首页 > 最新文献

Journal of Pathology and Translational Medicine最新文献

英文 中文
Special AT-rich sequence-binding protein 2 (SATB2) in the differential diagnosis of osteogenic and non-osteogenic bone and soft tissue tumors. 特殊的富含at序列结合蛋白2 (SATB2)在成骨性和非成骨性骨和软组织肿瘤鉴别诊断中的作用。
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-09-01 Epub Date: 2022-09-13 DOI: 10.4132/jptm.2022.07.11
Sharon Milton, Anne Jennifer Prabhu, V T K Titus, Rikki John, Selvamani Backianathan, Vrisha Madhuri

Background: The diagnosis of osteosarcoma (OSA) depends on clinicopathological and radiological correlation. A biopsy is considered the gold standard for OSA diagnosis. However, since OSA is a great histological mimicker, diagnostic challenges exist. Immunohistochemistry (IHC) can serve as an adjunct for the histological diagnosis of OSA. Special AT-rich sequence-binding protein 2 (SATB2) was recently described as a reliable adjunct immunohistochemical marker for the diagnosis of OSA.

Methods: We investigated the IHC expression of SATB2 in 95 OSA and 100 non-osteogenic bone and soft tissue tumors using a monoclonal antibody (clone EPNCIR30A). The diagnostic utility of SATB2 and correlation with clinicopathological parameters were analyzed.

Results: SATB2 IHC was positive in 88 out of 95 cases (92.6%) of OSA and 50 out of 100 cases (50.0%) of primary non-osteogenic bone and soft tissue tumors. Of the 59 bone tumors, 37 cases (62.7%) were positive for SATB2, and of the 41 soft tissue tumors, 13 cases (31.7%) were positive for SATB2. The sensitivity of SATB2 as a diagnostic test was 92.6%, specificity 50%, positive predictive value 63.8%, and negative predictive value 87.7%.

Conclusions: Although SATB2 is a useful diagnostic marker for OSA, other clinical, histological and immunohistochemical features should be considered for the interpretation of SATB2.

背景:骨肉瘤(OSA)的诊断依赖于临床病理和影像学的相关性。活组织检查被认为是OSA诊断的金标准。然而,由于OSA是一个巨大的组织学模仿者,因此存在诊断挑战。免疫组织化学(IHC)可作为OSA组织学诊断的辅助手段。特殊的富含at的序列结合蛋白2 (SATB2)最近被描述为诊断OSA的可靠辅助免疫组织化学标志物。方法:采用单克隆抗体(克隆EPNCIR30A)检测95例OSA和100例非成骨性骨和软组织肿瘤中SATB2的IHC表达。分析SATB2的诊断价值及其与临床病理参数的相关性。结果:95例OSA患者中有88例(92.6%)SATB2 IHC阳性,100例原发性非成骨性骨及软组织肿瘤中有50例(50.0%)SATB2 IHC阳性。59例骨肿瘤中SATB2阳性37例(62.7%),41例软组织肿瘤中SATB2阳性13例(31.7%)。SATB2诊断敏感性为92.6%,特异性为50%,阳性预测值为63.8%,阴性预测值为87.7%。结论:虽然SATB2是OSA的一个有用的诊断标志物,但在解释SATB2时应考虑其他临床、组织学和免疫组织化学特征。
{"title":"Special AT-rich sequence-binding protein 2 (SATB2) in the differential diagnosis of osteogenic and non-osteogenic bone and soft tissue tumors.","authors":"Sharon Milton,&nbsp;Anne Jennifer Prabhu,&nbsp;V T K Titus,&nbsp;Rikki John,&nbsp;Selvamani Backianathan,&nbsp;Vrisha Madhuri","doi":"10.4132/jptm.2022.07.11","DOIUrl":"https://doi.org/10.4132/jptm.2022.07.11","url":null,"abstract":"<p><strong>Background: </strong>The diagnosis of osteosarcoma (OSA) depends on clinicopathological and radiological correlation. A biopsy is considered the gold standard for OSA diagnosis. However, since OSA is a great histological mimicker, diagnostic challenges exist. Immunohistochemistry (IHC) can serve as an adjunct for the histological diagnosis of OSA. Special AT-rich sequence-binding protein 2 (SATB2) was recently described as a reliable adjunct immunohistochemical marker for the diagnosis of OSA.</p><p><strong>Methods: </strong>We investigated the IHC expression of SATB2 in 95 OSA and 100 non-osteogenic bone and soft tissue tumors using a monoclonal antibody (clone EPNCIR30A). The diagnostic utility of SATB2 and correlation with clinicopathological parameters were analyzed.</p><p><strong>Results: </strong>SATB2 IHC was positive in 88 out of 95 cases (92.6%) of OSA and 50 out of 100 cases (50.0%) of primary non-osteogenic bone and soft tissue tumors. Of the 59 bone tumors, 37 cases (62.7%) were positive for SATB2, and of the 41 soft tissue tumors, 13 cases (31.7%) were positive for SATB2. The sensitivity of SATB2 as a diagnostic test was 92.6%, specificity 50%, positive predictive value 63.8%, and negative predictive value 87.7%.</p><p><strong>Conclusions: </strong>Although SATB2 is a useful diagnostic marker for OSA, other clinical, histological and immunohistochemical features should be considered for the interpretation of SATB2.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 5","pages":"270-280"},"PeriodicalIF":2.4,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a3/b7/jptm-2022-07-11.PMC9510043.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40372799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Evaluation of the characteristics of multiple human papillomavirus (HPV) infections identified using the BD Onclarity HPV assay and comparison with those of single HPV infection. 用BD Onclarity HPV检测方法鉴定多重人乳头瘤病毒(HPV)感染的特征评价,并与单一HPV感染的比较
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-09-01 Epub Date: 2022-09-13 DOI: 10.4132/jptm.2022.08.02
Jinhee Kim, Moonsik Kim, Ji Young Park

Background: Human papillomavirus (HPV) infection is a major cause of cervical cancer and associated precursor lesions. Multiple HPV genotype infections have been reported. However, their clinicopathological characteristics still remain elusive.

Methods: For this study, 814 consecutive patients who had undergone colposcopy and HPV genotyping test using BD Onclarity HPV assay were retrospectively selected. Clinicopathological parameters of multiple HPV infections were compared with those of single HPV infection.

Results: Multiple HPV infections were found in 110 out of 814 cases (13.5%). Multiple HPV infections were associated with a significantly higher incidence of high-grade intraepithelial lesions (HSILs) compared with single HPV infection. Other high-risk HPV genotypes, in addition to HPV 16, were found more frequently in the multiple HPV infections group; these included HPV 51, 52, 33/58, 56/59/66, and 35/39/68. No specific coinfection pattern was not identified. Additionally, the number of HPV genotypes in multiple HPV infections was not associated with the progression to HSIL or squamous cell carcinoma.

Conclusions: Multiple HPV infections have distinct clinicopathological characteristics (compared with single HPV infection). As their biological behavior is uncertain, close and frequent follow-up is warranted.

背景:人乳头瘤病毒(HPV)感染是宫颈癌及其相关前驱病变的主要原因。多种HPV基因型感染已被报道。然而,他们的临床病理特征仍然难以捉摸。方法:本研究回顾性选择814例连续接受阴道镜检查并使用BD Onclarity HPV检测进行HPV基因分型检测的患者。比较多发HPV感染与单一HPV感染的临床病理参数。结果:814例患者中有110例存在多发HPV感染,占13.5%。与单一HPV感染相比,多发HPV感染与高级别上皮内病变(HSILs)的发生率显著升高相关。除HPV 16外,其他高危HPV基因型在多发HPV感染组中更为常见;包括HPV 51、52、33/58、56/59/66和35/39/68。未发现特定的合并感染模式。此外,多重HPV感染中HPV基因型的数量与HSIL或鳞状细胞癌的进展无关。结论:多发HPV感染具有明显的临床病理特征(与单一HPV感染相比)。由于它们的生物学行为是不确定的,因此需要密切和频繁的随访。
{"title":"Evaluation of the characteristics of multiple human papillomavirus (HPV) infections identified using the BD Onclarity HPV assay and comparison with those of single HPV infection.","authors":"Jinhee Kim,&nbsp;Moonsik Kim,&nbsp;Ji Young Park","doi":"10.4132/jptm.2022.08.02","DOIUrl":"https://doi.org/10.4132/jptm.2022.08.02","url":null,"abstract":"<p><strong>Background: </strong>Human papillomavirus (HPV) infection is a major cause of cervical cancer and associated precursor lesions. Multiple HPV genotype infections have been reported. However, their clinicopathological characteristics still remain elusive.</p><p><strong>Methods: </strong>For this study, 814 consecutive patients who had undergone colposcopy and HPV genotyping test using BD Onclarity HPV assay were retrospectively selected. Clinicopathological parameters of multiple HPV infections were compared with those of single HPV infection.</p><p><strong>Results: </strong>Multiple HPV infections were found in 110 out of 814 cases (13.5%). Multiple HPV infections were associated with a significantly higher incidence of high-grade intraepithelial lesions (HSILs) compared with single HPV infection. Other high-risk HPV genotypes, in addition to HPV 16, were found more frequently in the multiple HPV infections group; these included HPV 51, 52, 33/58, 56/59/66, and 35/39/68. No specific coinfection pattern was not identified. Additionally, the number of HPV genotypes in multiple HPV infections was not associated with the progression to HSIL or squamous cell carcinoma.</p><p><strong>Conclusions: </strong>Multiple HPV infections have distinct clinicopathological characteristics (compared with single HPV infection). As their biological behavior is uncertain, close and frequent follow-up is warranted.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 5","pages":"289-293"},"PeriodicalIF":2.4,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e2/2b/jptm-2022-08-02.PMC9510038.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40372801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Prognostic significance of BLK expression in R-CHOP treated diffuse large B-cell lymphoma. R-CHOP治疗弥漫性大b细胞淋巴瘤中BLK表达的预后意义。
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-09-01 Epub Date: 2022-09-13 DOI: 10.4132/jptm.2022.07.26
Soyeon Choi, Yoo Jin Lee, Yunsuk Choi, Misung Kim, Hyun-Jung Kim, Ji Eun Kim, Sukjoong Oh, Seoung Wan Chae, Hee Jeong Cha, Jae-Cheol Jo

Background: The aim of the present study was to evaluate the prognostic significance of B-cell lymphocyte kinase (BLK) expression for survival outcomes in diffuse large B-cell lymphoma (DLBCL) patients treated with R-CHOP.

Methods: We retrospectively analyzed the medical records of 89 patients from two tertiary referral hospitals. The expression of BLK, SYK, and CDK1 were evaluated in a semiquantitative method using an H-score, and the proportions of BCL2 and C-MYC were evaluated.

Results: A total of 89 patients received R-CHOP chemotherapy as a first-line chemotherapy. The expression rates of BLK in tumor cells was 39.2% (n = 34). BLK expression status was not significantly associated with clinical variables; however, BLK expression in tumor cells was significantly associated with the expression of both C-MYC and BCL2 (p = .003). With a median follow-up of 60.4 months, patients with BLK expression had significantly lower 5-year progression-free survival (PFS) and overall survival rates (49.8% and 60.9%, respectively) than patients without BLK expression (77.3% and 86.7%, respectively). In multivariate analysis for PFS, BLK positivity was an independent poor prognostic factor (hazard ratio, 2.208; p = .040).

Conclusions: Here, we describe the clinicopathological features and survival outcome according to expression of BLK in DLBCL. Approximately 39% of DLBCL patients showed BLK positivity, which was associated as a predictive marker for poor prognosis in patients who received R-CHOP chemotherapy.

背景:本研究的目的是评估b细胞淋巴细胞激酶(BLK)表达对弥漫性大b细胞淋巴瘤(DLBCL)患者接受R-CHOP治疗后生存结果的预后意义。方法:回顾性分析两家三级转诊医院89例患者的病历。采用H-score半定量法检测BLK、SYK和CDK1的表达,检测BCL2和C-MYC的表达比例。结果:89例患者接受R-CHOP化疗作为一线化疗。BLK在肿瘤细胞中的表达率为39.2% (n = 34)。BLK表达状态与临床变量无显著相关性;然而,BLK在肿瘤细胞中的表达与C-MYC和BCL2的表达均显著相关(p = 0.003)。中位随访时间为60.4个月,BLK表达患者的5年无进展生存期(PFS)和总生存率(分别为49.8%和60.9%)显著低于无BLK表达患者(分别为77.3%和86.7%)。在PFS的多变量分析中,BLK阳性是一个独立的不良预后因素(危险比,2.208;P = .040)。结论:我们根据BLK在DLBCL中的表达来描述临床病理特征和生存结局。大约39%的DLBCL患者显示BLK阳性,这是接受R-CHOP化疗的患者预后不良的预测指标。
{"title":"Prognostic significance of BLK expression in R-CHOP treated diffuse large B-cell lymphoma.","authors":"Soyeon Choi,&nbsp;Yoo Jin Lee,&nbsp;Yunsuk Choi,&nbsp;Misung Kim,&nbsp;Hyun-Jung Kim,&nbsp;Ji Eun Kim,&nbsp;Sukjoong Oh,&nbsp;Seoung Wan Chae,&nbsp;Hee Jeong Cha,&nbsp;Jae-Cheol Jo","doi":"10.4132/jptm.2022.07.26","DOIUrl":"https://doi.org/10.4132/jptm.2022.07.26","url":null,"abstract":"<p><strong>Background: </strong>The aim of the present study was to evaluate the prognostic significance of B-cell lymphocyte kinase (BLK) expression for survival outcomes in diffuse large B-cell lymphoma (DLBCL) patients treated with R-CHOP.</p><p><strong>Methods: </strong>We retrospectively analyzed the medical records of 89 patients from two tertiary referral hospitals. The expression of BLK, SYK, and CDK1 were evaluated in a semiquantitative method using an H-score, and the proportions of BCL2 and C-MYC were evaluated.</p><p><strong>Results: </strong>A total of 89 patients received R-CHOP chemotherapy as a first-line chemotherapy. The expression rates of BLK in tumor cells was 39.2% (n = 34). BLK expression status was not significantly associated with clinical variables; however, BLK expression in tumor cells was significantly associated with the expression of both C-MYC and BCL2 (p = .003). With a median follow-up of 60.4 months, patients with BLK expression had significantly lower 5-year progression-free survival (PFS) and overall survival rates (49.8% and 60.9%, respectively) than patients without BLK expression (77.3% and 86.7%, respectively). In multivariate analysis for PFS, BLK positivity was an independent poor prognostic factor (hazard ratio, 2.208; p = .040).</p><p><strong>Conclusions: </strong>Here, we describe the clinicopathological features and survival outcome according to expression of BLK in DLBCL. Approximately 39% of DLBCL patients showed BLK positivity, which was associated as a predictive marker for poor prognosis in patients who received R-CHOP chemotherapy.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 5","pages":"281-288"},"PeriodicalIF":2.4,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b7/4c/jptm-2022-07-26.PMC9510039.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40372800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Heterotopic mesenteric ossification: a report of two cases. 异位肠系膜骨化2例报告。
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-09-01 Epub Date: 2022-09-13 DOI: 10.4132/jptm.2022.07.23
Hisham F Bahmad, Olga Lopez, Tyson Sutherland, Marisa Vinas, Kfir Ben-David, Lydia Howard, Robert Poppiti, Sarah Alghamdi

Heterotopic mesenteric ossification (HMO) is abnormal bone formation in tissues which usually do not undergo ossification. There are approximately 75 cases reported worldwide. We present two cases of HMO. The first case is that of a 39-year-old man who presented with abdominal pain and a computerized tomography scan of the abdomen and pelvis revealed an apple core lesion resulting in small bowel obstruction. The second case is that of a 36-year-old woman who presented 2 months after undergoing robotic gastric sleeve resection complaining of weakness and emesis. An esophagogram revealed kinking at the distal esophagus. Surgical resection was performed in both, yielding the diagnosis of HMO. There are various theories as to the pathophysiology of HMO, but no clearly defined mechanism has been established. Management should be conservative whenever possible to prevent further ossification with subsequent surgical intervention.

异位肠系膜骨化(HMO)是在通常不发生骨化的组织中发生的异常骨形成。全世界报告的病例约有75例。我们提出两例HMO病例。第一个病例是一名39岁的男性,他表现为腹痛,腹部和骨盆的计算机断层扫描显示苹果核病变导致小肠梗阻。第二个病例是一名36岁的女性,她在接受机器人胃袖切除术2个月后出现虚弱和呕吐。食道造影显示远端食道扭结。两例均行手术切除,诊断为HMO。关于HMO的病理生理有多种理论,但尚未建立明确的机制。治疗应尽可能保守,以防止后续手术干预进一步骨化。
{"title":"Heterotopic mesenteric ossification: a report of two cases.","authors":"Hisham F Bahmad,&nbsp;Olga Lopez,&nbsp;Tyson Sutherland,&nbsp;Marisa Vinas,&nbsp;Kfir Ben-David,&nbsp;Lydia Howard,&nbsp;Robert Poppiti,&nbsp;Sarah Alghamdi","doi":"10.4132/jptm.2022.07.23","DOIUrl":"https://doi.org/10.4132/jptm.2022.07.23","url":null,"abstract":"<p><p>Heterotopic mesenteric ossification (HMO) is abnormal bone formation in tissues which usually do not undergo ossification. There are approximately 75 cases reported worldwide. We present two cases of HMO. The first case is that of a 39-year-old man who presented with abdominal pain and a computerized tomography scan of the abdomen and pelvis revealed an apple core lesion resulting in small bowel obstruction. The second case is that of a 36-year-old woman who presented 2 months after undergoing robotic gastric sleeve resection complaining of weakness and emesis. An esophagogram revealed kinking at the distal esophagus. Surgical resection was performed in both, yielding the diagnosis of HMO. There are various theories as to the pathophysiology of HMO, but no clearly defined mechanism has been established. Management should be conservative whenever possible to prevent further ossification with subsequent surgical intervention.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 5","pages":"294-300"},"PeriodicalIF":2.4,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/33/34/jptm-2022-07-23.PMC9510041.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40372802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cytopathologic features of human papillomavirus-independent, gastric-type endocervical adenocarcinoma. 不依赖人乳头瘤病毒的胃型宫颈内膜腺癌的细胞病理学特征。
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-09-01 Epub Date: 2022-09-13 DOI: 10.4132/jptm.2022.07.05
Min-Kyung Yeo, Go Eun Bae, Dong-Hyun Kim, In-Ock Seong, Kwang-Sun Suh

Background: Gastric-type endocervical adenocarcinoma (GEA) is unrelated to human papillomavirus (HPV) infection and is clinically aggressive compared with HPV-associated usual-type endocervical adenocarcinoma (UEA). The cytological diagnosis falls short of a definitive diagnosis of GEA and is often categorized as atypical glandular cells (AGCs). To improve cytologic recognition, cytological findings of HPV-independent GEA were analyzed and the results compared with HPV-associated UEA.

Methods: Cervical Papanicolaou (Pap) smears from eight patients with a histopathologic diagnosis of GEA and 12 control cases of UEA were reviewed. All slides were conventionally prepared and/or liquid-based prepared (ThinPrep) and stained following the Pap method. A mucinous background, architectural, nuclear, and cytoplasmic features were analyzed and compared with UEA.

Results: Preoperative cytologic diagnoses of the eight GEA cases were AGCs, favor neoplastic in three cases, adenocarcinoma in situ in one case, and adenocarcinoma in four cases. Cytologically, monolayered honeycomb-like sheets (p = .002) of atypical endocervical cells with vacuolar granular cytoplasm (p = .001) were extensive in GEA, and three-dimensional clusters (p = .010) were extensive in UEA. Although the differences were not statistically significant, background mucin (p = .058), vesicular nuclei (p = .057), and golden-brown intracytoplasmic mucin (p = .089) were also discriminatory findings for GEA versus UEA.

Conclusions: Although GEA is difficult to diagnose on cytologic screening, GEA can be recognized based on cytologic features of monolayered honeycomb sheets of atypical endocervical cells with abundant vacuolar cytoplasm and some golden-brown intracytoplasmic mucin. UEA cases are characterized by three-dimensional clusters.

背景:胃型宫颈内膜腺癌(GEA)与人乳头瘤病毒(HPV)感染无关,与HPV相关的普通型宫颈内膜腺癌(UEA)相比,其临床侵袭性更强。细胞学诊断缺乏GEA的明确诊断,通常被归类为非典型腺细胞(AGCs)。为了提高细胞学识别,我们分析了hpv非依赖性GEA的细胞学结果,并将结果与hpv相关的UEA进行了比较。方法:回顾性分析8例经组织病理学诊断为GEA的宫颈巴氏涂片患者和12例UEA对照患者的临床资料。所有载玻片均常规制备和/或液基制备(ThinPrep),并按照Pap法染色。黏液背景、结构、核和细胞质特征与UEA进行了分析和比较。结果:8例GEA术前细胞学诊断均为AGCs, 3例为肿瘤,1例为原位腺癌,4例为腺癌。细胞学上,非典型宫颈内膜细胞广泛呈单层蜂窝状片状(p = 0.002),胞浆为空泡状颗粒状(p = 0.001),而UEA细胞广泛呈三维团簇(p = 0.010)。虽然差异无统计学意义,但背景黏液蛋白(p = 0.058)、泡状核(p = 0.057)和金棕色胞浆内黏液蛋白(p = 0.089)也是GEA与UEA的区别发现。结论:虽然GEA在细胞学筛查上难以诊断,但可以通过细胞学特征识别非典型宫颈内膜细胞的单层蜂窝片,胞浆中有丰富的空泡状细胞质和一些金棕色的胞浆内黏液。东安格利亚病例的特点是三维集群。
{"title":"Cytopathologic features of human papillomavirus-independent, gastric-type endocervical adenocarcinoma.","authors":"Min-Kyung Yeo,&nbsp;Go Eun Bae,&nbsp;Dong-Hyun Kim,&nbsp;In-Ock Seong,&nbsp;Kwang-Sun Suh","doi":"10.4132/jptm.2022.07.05","DOIUrl":"https://doi.org/10.4132/jptm.2022.07.05","url":null,"abstract":"<p><strong>Background: </strong>Gastric-type endocervical adenocarcinoma (GEA) is unrelated to human papillomavirus (HPV) infection and is clinically aggressive compared with HPV-associated usual-type endocervical adenocarcinoma (UEA). The cytological diagnosis falls short of a definitive diagnosis of GEA and is often categorized as atypical glandular cells (AGCs). To improve cytologic recognition, cytological findings of HPV-independent GEA were analyzed and the results compared with HPV-associated UEA.</p><p><strong>Methods: </strong>Cervical Papanicolaou (Pap) smears from eight patients with a histopathologic diagnosis of GEA and 12 control cases of UEA were reviewed. All slides were conventionally prepared and/or liquid-based prepared (ThinPrep) and stained following the Pap method. A mucinous background, architectural, nuclear, and cytoplasmic features were analyzed and compared with UEA.</p><p><strong>Results: </strong>Preoperative cytologic diagnoses of the eight GEA cases were AGCs, favor neoplastic in three cases, adenocarcinoma in situ in one case, and adenocarcinoma in four cases. Cytologically, monolayered honeycomb-like sheets (p = .002) of atypical endocervical cells with vacuolar granular cytoplasm (p = .001) were extensive in GEA, and three-dimensional clusters (p = .010) were extensive in UEA. Although the differences were not statistically significant, background mucin (p = .058), vesicular nuclei (p = .057), and golden-brown intracytoplasmic mucin (p = .089) were also discriminatory findings for GEA versus UEA.</p><p><strong>Conclusions: </strong>Although GEA is difficult to diagnose on cytologic screening, GEA can be recognized based on cytologic features of monolayered honeycomb sheets of atypical endocervical cells with abundant vacuolar cytoplasm and some golden-brown intracytoplasmic mucin. UEA cases are characterized by three-dimensional clusters.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 5","pages":"260-269"},"PeriodicalIF":2.4,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4b/ab/jptm-2022-07-05.PMC9510040.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40372798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing. 肺腺癌中EGFR突变的前景:PANAMutyper检测和靶向下一代测序比较的单个研究所经验。
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-09-01 Epub Date: 2022-09-13 DOI: 10.4132/jptm.2022.06.11
Jeonghyo Lee, Yeon Bi Han, Hyun Jung Kwon, Song Kook Lee, Hyojin Kim, Jin-Haeng Chung

Background: Activating mutations in the tyrosine kinase domain of epidermal growth factor receptor (EGFR) are predictive biomarkers for response to EGFR-tyrosine kinase inhibitor (TKI) therapy in lung adenocarcinoma (LUAD). Here, we characterized the clinicopathologic features associated with EGFR mutations via peptide nucleic acid clamping-assisted fluorescence melting curve analysis (PANAMutyper) and evaluated the feasibility of targeted deep sequencing for detecting the mutations.

Methods: We examined EGFR mutations in exons 18 through 21 for 2,088 LUADs from July 2017 to April 2020 using PANAMutyper. Of these, we performed targeted deep sequencing in 73 patients and evaluated EGFR-mutation status and TKI clinical response.

Results: EGFR mutation was identified in 55.7% of LUADs by PANAMutyper, with mutation rates higher in females (69.3%) and never smokers (67.1%) and highest in the age range of 50 to 59 years (64.9%). For the 73 patients evaluated using both methods, next-generation sequencing (NGS) identified EGFR mutation-positive results in 14 of 61 patients (23.0%) who were EGFR-negative according to PANAMutyper testing. Of the 10 patients reportedly harboring a sensitizing mutation according to NGS, seven received TKI treatment, with all showing partial response or stable disease. In the 12 PANAMutyper-positive cases, NGS identified two additional mutations in exon 18, whereas a discordant negative result was observed in two cases.

Conclusions: Although PANAMutyper identified high frequencies of EGFR mutations, targeted deep sequencing revealed additional uncommon EGFR mutations. These findings suggested that appropriate use of NGS may benefit LUAD patients with otherwise negative screening test results.

背景:表皮生长因子受体(EGFR)酪氨酸激酶结构域的激活突变是肺腺癌(LUAD)患者对EGFR-酪氨酸激酶抑制剂(TKI)治疗反应的预测性生物标志物。在这里,我们通过肽核酸夹辅助荧光熔化曲线分析(PANAMutyper)表征了与EGFR突变相关的临床病理特征,并评估了靶向深度测序检测突变的可行性。方法:我们使用PANAMutyper检测了2017年7月至2020年4月期间2088例luad的外显子18至21的EGFR突变。其中,我们对73名患者进行了靶向深度测序,并评估了egfr突变状态和TKI临床反应。结果:PANAMutyper在55.7%的luad中检测到EGFR突变,其中女性(69.3%)和从不吸烟者(67.1%)的突变率较高,在50 - 59岁年龄段最高(64.9%)。对于使用两种方法评估的73例患者,下一代测序(NGS)在61例患者中鉴定出EGFR突变阳性结果,其中14例(23.0%)根据PANAMutyper检测为EGFR阴性。据报道,根据NGS,在10名携带致敏突变的患者中,有7名接受了TKI治疗,所有患者均表现出部分反应或病情稳定。在12例panamutyper阳性病例中,NGS在18号外显子中发现了两个额外的突变,而在2例中观察到不一致的阴性结果。结论:尽管PANAMutyper发现了EGFR突变的高频率,但靶向深度测序发现了其他不常见的EGFR突变。这些发现表明,适当使用NGS可能对筛查结果阴性的LUAD患者有益。
{"title":"Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing.","authors":"Jeonghyo Lee,&nbsp;Yeon Bi Han,&nbsp;Hyun Jung Kwon,&nbsp;Song Kook Lee,&nbsp;Hyojin Kim,&nbsp;Jin-Haeng Chung","doi":"10.4132/jptm.2022.06.11","DOIUrl":"https://doi.org/10.4132/jptm.2022.06.11","url":null,"abstract":"<p><strong>Background: </strong>Activating mutations in the tyrosine kinase domain of epidermal growth factor receptor (EGFR) are predictive biomarkers for response to EGFR-tyrosine kinase inhibitor (TKI) therapy in lung adenocarcinoma (LUAD). Here, we characterized the clinicopathologic features associated with EGFR mutations via peptide nucleic acid clamping-assisted fluorescence melting curve analysis (PANAMutyper) and evaluated the feasibility of targeted deep sequencing for detecting the mutations.</p><p><strong>Methods: </strong>We examined EGFR mutations in exons 18 through 21 for 2,088 LUADs from July 2017 to April 2020 using PANAMutyper. Of these, we performed targeted deep sequencing in 73 patients and evaluated EGFR-mutation status and TKI clinical response.</p><p><strong>Results: </strong>EGFR mutation was identified in 55.7% of LUADs by PANAMutyper, with mutation rates higher in females (69.3%) and never smokers (67.1%) and highest in the age range of 50 to 59 years (64.9%). For the 73 patients evaluated using both methods, next-generation sequencing (NGS) identified EGFR mutation-positive results in 14 of 61 patients (23.0%) who were EGFR-negative according to PANAMutyper testing. Of the 10 patients reportedly harboring a sensitizing mutation according to NGS, seven received TKI treatment, with all showing partial response or stable disease. In the 12 PANAMutyper-positive cases, NGS identified two additional mutations in exon 18, whereas a discordant negative result was observed in two cases.</p><p><strong>Conclusions: </strong>Although PANAMutyper identified high frequencies of EGFR mutations, targeted deep sequencing revealed additional uncommon EGFR mutations. These findings suggested that appropriate use of NGS may benefit LUAD patients with otherwise negative screening test results.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 5","pages":"249-259"},"PeriodicalIF":2.4,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b5/18/jptm-2022-06-11.PMC9510045.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40374271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Founder BRCA1 mutations in Nepalese population 尼泊尔人群的创始人BRCA1突变
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-06-15 DOI: 10.4132/jptm.2022.05.02
A. Mehta, H. Diwan, G. Gupta, S. Nathany, S. Agnihotri, Surender Dhanda
Background Founder mutation is a heritable genetic alteration observed with high frequency in a geographically and culturally isolated population where one or more ancestors becomes the forebearer of the altered gene. The current study reports two founder mutations in the BRCA1 gene in the Nepalese people. Methods Germline BRCA testing in all surface epithelial ovarian cancers and the selected case of breast, prostate, and pancreatic cancers has been the standard practice from 2016 to 2021. One thousand one hundred thirty-three probands were screened for germline BRCA variants by next generation sequencing. The variants were classified as per the American Society of Medical Genetics and Genomics recommendations. Pathogenic (class V) and likely pathogenic (class IV) were considered clinically relevant and utilized for cascade screening. Results Nepalese population made up a subcohort of 5.12% (58/1,133) of probands tested for germline BRCA1/2 variants. Twenty-seven of these 58 tested harbored pathogenic genetic alterations in BRCA1/2 genes, with 23 being BRCA1 mutant. Sixteen of 23 BRCA1 mutant cases shared one common pathogenic mutation c.2214_2215insT (p.Lys739Ter) (NM_007294.4). Additionally, a second highly recurrent mutation in BRCA1 gene c.5068A>T (p.Lys1690Ter) (NM_007294.4) was noted in six patients from this population. Conclusions The overwhelming abundance of the above two variants in a geographically confined population confers these two genetic alterations a status of founder mutations amongst the people of Nepal. A more extensive population-based study to reaffirm these findings will help establish a dual site-specific germline testing similar to the “Multisite-3-assay” in Ashkenazi Jews as the primary screening tool, especially in a resource-constrained environment.
背景Founder突变是在地理和文化上孤立的人群中观察到的一种可遗传的基因改变,其中一个或多个祖先成为改变基因的祖先。目前的研究报告了尼泊尔人BRCA1基因的两个创始突变。方法从2016年到2021年,对所有表面上皮性卵巢癌和选定的乳腺癌、前列腺癌和胰腺癌进行种系BRCA检测是标准做法。通过下一代测序对133名先证者进行了种系BRCA变异筛查。这些变体是根据美国医学遗传学和基因组学学会的建议进行分类的。致病性(V类)和可能致病性(IV类)被认为具有临床相关性,并用于级联筛查。结果在种系BRCA1/2变异检测的先证者中,尼泊尔人群占5.12%(58/1133)。在这58个测试中,有27个BRCA1/2基因存在致病性基因改变,其中23个是BRCA1突变体。23例BRCA1突变病例中有16例共有一个常见的致病突变c.2214_2215insT(p.Lys739Ter)(NM_007294.4)。此外,在该人群的6名患者中发现BRCA1基因c.5068A>T(p.Lys1690Ter)(NM-007294.4)的第二个高复发突变。结论在地理位置有限的人群中,上述两种变体的大量存在使这两种基因改变在尼泊尔人民中具有奠基突变的地位。一项更广泛的基于人群的研究来重申这些发现,将有助于在阿什肯纳兹犹太人中建立一种类似于“多位点-3-测定”的双位点种系检测,作为主要筛查工具,特别是在资源有限的环境中。
{"title":"Founder BRCA1 mutations in Nepalese population","authors":"A. Mehta, H. Diwan, G. Gupta, S. Nathany, S. Agnihotri, Surender Dhanda","doi":"10.4132/jptm.2022.05.02","DOIUrl":"https://doi.org/10.4132/jptm.2022.05.02","url":null,"abstract":"Background Founder mutation is a heritable genetic alteration observed with high frequency in a geographically and culturally isolated population where one or more ancestors becomes the forebearer of the altered gene. The current study reports two founder mutations in the BRCA1 gene in the Nepalese people. Methods Germline BRCA testing in all surface epithelial ovarian cancers and the selected case of breast, prostate, and pancreatic cancers has been the standard practice from 2016 to 2021. One thousand one hundred thirty-three probands were screened for germline BRCA variants by next generation sequencing. The variants were classified as per the American Society of Medical Genetics and Genomics recommendations. Pathogenic (class V) and likely pathogenic (class IV) were considered clinically relevant and utilized for cascade screening. Results Nepalese population made up a subcohort of 5.12% (58/1,133) of probands tested for germline BRCA1/2 variants. Twenty-seven of these 58 tested harbored pathogenic genetic alterations in BRCA1/2 genes, with 23 being BRCA1 mutant. Sixteen of 23 BRCA1 mutant cases shared one common pathogenic mutation c.2214_2215insT (p.Lys739Ter) (NM_007294.4). Additionally, a second highly recurrent mutation in BRCA1 gene c.5068A>T (p.Lys1690Ter) (NM_007294.4) was noted in six patients from this population. Conclusions The overwhelming abundance of the above two variants in a geographically confined population confers these two genetic alterations a status of founder mutations amongst the people of Nepal. A more extensive population-based study to reaffirm these findings will help establish a dual site-specific germline testing similar to the “Multisite-3-assay” in Ashkenazi Jews as the primary screening tool, especially in a resource-constrained environment.","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 1","pages":"212 - 216"},"PeriodicalIF":2.4,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46795357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Hepatic carcinoma expressing inhibin: case report of a proposed novel entity and review of the literature 表达抑制素的肝癌:一个新实体的病例报告和文献综述
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-06-15 DOI: 10.4132/jptm.2022.04.07
A. Syrnioti, E. Athanasiou, P. Hytiroglou
Hepatic carcinoma expressing inhibin is a recently described neoplasm with varied architecture, including trabecular, pseudoglandular, follicular/microcystic, organoid, solid and tubular patterns of growth. We report a case of hepatic carcinoma expressing inhibin that occurred in a 47-year-old woman presenting with epigastric and back pain. The tumor was located in the left hepatic lobe and measured 12 cm in diameter. On immunohistochemical stains, the neoplastic cells were positive for inhibin, as well as cytokeratins 7, 8/18 and 19. There was mild focal expression of synaptophysin, and lack of expression of hepatocytic markers. The histogenesis of hepatic carcinoma expressing inhibin is presently uncertain. From a practical point of view, this neoplasm can potentially cause diagnostic pitfalls by simulating other primary or metastatic tumors, such as hepatocellular carcinoma, cholangiocarcinoma, neuroendocrine tumors, and follicular carcinoma of thyroid gland. Performing inhibin immunostain could assist in the differential diagnosis of liver tumors with unusual histologic features.
表达抑制素的肝癌是最近发现的一种结构多样的肿瘤,包括小梁、假腺、滤泡/微囊、类器官、实体和管状生长模式。我们报告一例肝癌表达抑制素,发生在一个47岁的妇女表现为上腹部和背部疼痛。肿瘤位于左肝叶,直径约12cm。免疫组化染色肿瘤细胞抑制素阳性,细胞角蛋白7、8/18和19阳性。synaptophysin轻度局灶性表达,肝细胞标志物缺乏表达。表达抑制素的肝癌的组织发生目前尚不清楚。从实用的角度来看,这种肿瘤通过模拟其他原发性或转移性肿瘤,如肝细胞癌、胆管癌、神经内分泌肿瘤和甲状腺滤泡癌,可能会造成潜在的诊断缺陷。抑制素免疫染色对具有异常组织学特征的肝脏肿瘤有鉴别诊断价值。
{"title":"Hepatic carcinoma expressing inhibin: case report of a proposed novel entity and review of the literature","authors":"A. Syrnioti, E. Athanasiou, P. Hytiroglou","doi":"10.4132/jptm.2022.04.07","DOIUrl":"https://doi.org/10.4132/jptm.2022.04.07","url":null,"abstract":"Hepatic carcinoma expressing inhibin is a recently described neoplasm with varied architecture, including trabecular, pseudoglandular, follicular/microcystic, organoid, solid and tubular patterns of growth. We report a case of hepatic carcinoma expressing inhibin that occurred in a 47-year-old woman presenting with epigastric and back pain. The tumor was located in the left hepatic lobe and measured 12 cm in diameter. On immunohistochemical stains, the neoplastic cells were positive for inhibin, as well as cytokeratins 7, 8/18 and 19. There was mild focal expression of synaptophysin, and lack of expression of hepatocytic markers. The histogenesis of hepatic carcinoma expressing inhibin is presently uncertain. From a practical point of view, this neoplasm can potentially cause diagnostic pitfalls by simulating other primary or metastatic tumors, such as hepatocellular carcinoma, cholangiocarcinoma, neuroendocrine tumors, and follicular carcinoma of thyroid gland. Performing inhibin immunostain could assist in the differential diagnosis of liver tumors with unusual histologic features.","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 1","pages":"225 - 230"},"PeriodicalIF":2.4,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41416974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
EGFL7 expression profile in IDH-wildtype glioblastomas is associated with poor patient outcome IDH野生型胶质母细胞瘤中EGFL7的表达谱与不良患者预后相关
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-06-15 DOI: 10.4132/jptm.2022.04.22
Bruno Henrique Bressan da Costa, A. Becker, L. Neder, P. G. Gonçalves, Cristiane Carla de Oliveira, A. Polverini, C. Clara, G. Teixeira, R. Reis, L. Bidinotto
Background Despite the advances in glioblastoma (GBM) treatment, the average life span of patients is 14 months. Therefore, it is urgent to identity biomarkers of prognosis, treatment response, or development of novel treatment strategies. We previously described the association of high epidermal growth factor-like domain multiple 7 (EGFL7) expression and unfavorable outcome of pilocytic astrocytoma patients. The present study aims to analyze the prognostic potential of EGFL7 in GBM isocitrate dehydrogenase (IDH)-wildtype, using immunohistochemistry and in silico approaches. Methods Spearman’s correlation analysis of The Cancer Genome Atlas RNA sequencing data was performed. The genes strongly correlated to EGFL7 expression were submitted to enrichment gene ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Additionally, EGFL7 expression was associated with patient overall survival. The expression of EGFL7 was analyzed through immunohistochemistry in 74 GBM IDH-wildtype patients’ samples, and was associated with clinicopathological data and overall survival. Results In silico analysis found 78 genes strongly correlated to EGFL7 expression. These genes were enriched in 40 biological processes and eight KEGG pathways, including angiogenesis/vasculogenesis, cell adhesion, and phosphoinositide 3-kinase–Akt, Notch, and Rap1 signaling pathways. The immunostaining showed high EGFL7 expression in 39 cases (52.7%). High immunolabelling was significantly associated with low Karnofsky Performance Status and poor overall survival. Cox analysis showed that GBMs IDH-wildtype with high EGFL7 expression presented a higher risk of death compared to low expression (hazard ratio, 1.645; 95% confidence interval, 1.021 to 2.650; p = .041). Conclusions This study gives insights regarding the genes that are correlated with EGFL7, as well as biological processes and signaling pathways, which should be further investigated in order to elucidate their role in glioblastoma biology.
背景尽管胶质母细胞瘤(GBM)的治疗取得了进展,但患者的平均寿命为14个月。因此,迫切需要确定预后、治疗反应或开发新的治疗策略的生物标志物。我们先前描述了高表皮生长因子样结构域多重7(EGFL7)表达与毛细胞星形细胞瘤患者不良预后的关系。本研究旨在使用免疫组织化学和计算机方法分析EGFL7在GBM异柠檬酸脱氢酶(IDH)-野生型中的预后潜力。方法对癌症基因组图谱RNA测序数据进行Spearman相关性分析。将与EGFL7表达密切相关的基因提交给富集基因本体论和京都基因和基因组百科全书(KEGG)分析。此外,EGFL7的表达与患者的总生存率相关。通过免疫组化分析了74例GBM IDH野生型患者样本中EGFL7的表达,并与临床病理数据和总生存率相关。结果计算机分析发现78个基因与EGFL7的表达密切相关。这些基因在40个生物学过程和8个KEGG途径中富集,包括血管生成/血管生成、细胞粘附和磷酸肌醇3-激酶-Akt、Notch和Rap1信号通路。免疫染色显示39例(52.7%)EGFL7高表达。高免疫标记与低Karnofsky性能状态和低总生存率显著相关。Cox分析显示,与低表达相比,EGFL7高表达的GBMs-IDH野生型具有更高的死亡风险(风险比,1.645;95%置信区间,1.021-2.650;p=0.041),为了阐明它们在胶质母细胞瘤生物学中的作用,应该对其进行进一步的研究。
{"title":"EGFL7 expression profile in IDH-wildtype glioblastomas is associated with poor patient outcome","authors":"Bruno Henrique Bressan da Costa, A. Becker, L. Neder, P. G. Gonçalves, Cristiane Carla de Oliveira, A. Polverini, C. Clara, G. Teixeira, R. Reis, L. Bidinotto","doi":"10.4132/jptm.2022.04.22","DOIUrl":"https://doi.org/10.4132/jptm.2022.04.22","url":null,"abstract":"Background Despite the advances in glioblastoma (GBM) treatment, the average life span of patients is 14 months. Therefore, it is urgent to identity biomarkers of prognosis, treatment response, or development of novel treatment strategies. We previously described the association of high epidermal growth factor-like domain multiple 7 (EGFL7) expression and unfavorable outcome of pilocytic astrocytoma patients. The present study aims to analyze the prognostic potential of EGFL7 in GBM isocitrate dehydrogenase (IDH)-wildtype, using immunohistochemistry and in silico approaches. Methods Spearman’s correlation analysis of The Cancer Genome Atlas RNA sequencing data was performed. The genes strongly correlated to EGFL7 expression were submitted to enrichment gene ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Additionally, EGFL7 expression was associated with patient overall survival. The expression of EGFL7 was analyzed through immunohistochemistry in 74 GBM IDH-wildtype patients’ samples, and was associated with clinicopathological data and overall survival. Results In silico analysis found 78 genes strongly correlated to EGFL7 expression. These genes were enriched in 40 biological processes and eight KEGG pathways, including angiogenesis/vasculogenesis, cell adhesion, and phosphoinositide 3-kinase–Akt, Notch, and Rap1 signaling pathways. The immunostaining showed high EGFL7 expression in 39 cases (52.7%). High immunolabelling was significantly associated with low Karnofsky Performance Status and poor overall survival. Cox analysis showed that GBMs IDH-wildtype with high EGFL7 expression presented a higher risk of death compared to low expression (hazard ratio, 1.645; 95% confidence interval, 1.021 to 2.650; p = .041). Conclusions This study gives insights regarding the genes that are correlated with EGFL7, as well as biological processes and signaling pathways, which should be further investigated in order to elucidate their role in glioblastoma biology.","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 1","pages":"205 - 211"},"PeriodicalIF":2.4,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44475535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Correlation between myoferlin expression and lymph node metastasis in papillary thyroid carcinoma 甲状腺乳头状癌肌纤维蛋白表达与淋巴结转移的相关性研究
IF 2.4 Q3 PATHOLOGY Pub Date : 2022-05-11 DOI: 10.4132/jptm.2022.03.19
J. Na, Dong Chul Kim, D. Song, H. An, H. Koh, Jeong-Hee Lee, Jong Sil Lee, J. Yang, Min Hye Kim
Background Myoferlin is a multifunctional protein expressed in various normal and cancer cells, with novel oncogenic roles being newly discovered. Recently, correlations have been found between myoferlin expression and unfavorable prognosis in various carcinomas. This study investigated the prognostic role of myoferlin expression in papillary thyroid carcinoma (PTC), specifically that associated with nodal metastasis. Methods We collected clinicopathological data and PTC tissues from 116 patients who had been admitted to Gyeongsang National University Hospital in 2010. Immunohistochemical analysis was performed on surgical specimen-derived tissue microarray blocks. Myoferlin expression was graded, and the relationship between expression level and pathological features of tumors based on the American Joint Committee on Cancer staging system was evaluated. Results Of the 116 patient samples, 100 cases exhibited positive myoferlin expression. Higher grade of myoferlin expression was correlated with lower T category group (p = .010). Presence of lymph node metastasis was determined to be significantly correlated with low-grade myoferlin expression (p = .019), with no significant difference between pN1a and pN1b tumors. Conclusions Our study revealed an adverse correlation between myoferlin expression and pathological features of PTC, evidence of the potential prognostic role of myoferlin in PTC lymph node metastasis.
背景Myoferlin是一种在各种正常和癌症细胞中表达的多功能蛋白,其新的致癌作用正在被新发现。近年来,人们发现肌纤维蛋白的表达与各种癌症的不良预后之间存在相关性。本研究探讨了肌纤维蛋白表达在甲状腺乳头状癌(PTC)中的预后作用,特别是与淋巴结转移相关的预后作用。方法收集2010年入住庆尚国立大学医院的116例患者的临床病理资料和PTC组织。对手术标本来源的组织微阵列块进行免疫组织化学分析。根据美国癌症联合委员会的分期系统对Myoferlin的表达进行分级,并评估表达水平与肿瘤病理特征之间的关系。结果116例患者标本中,100例肌纤维蛋白表达阳性。较高级别的肌纤维蛋白表达与较低的T类组相关(p=0.010)。淋巴结转移的存在与较低级别的肌细胞蛋白表达显著相关(p=0.019),pN1a和pN1b肿瘤之间没有显著差异。结论我们的研究揭示了肌纤维蛋白的表达与PTC的病理特征之间的不良相关性,证明了肌纤维素在PTC淋巴结转移中的潜在预后作用。
{"title":"Correlation between myoferlin expression and lymph node metastasis in papillary thyroid carcinoma","authors":"J. Na, Dong Chul Kim, D. Song, H. An, H. Koh, Jeong-Hee Lee, Jong Sil Lee, J. Yang, Min Hye Kim","doi":"10.4132/jptm.2022.03.19","DOIUrl":"https://doi.org/10.4132/jptm.2022.03.19","url":null,"abstract":"Background Myoferlin is a multifunctional protein expressed in various normal and cancer cells, with novel oncogenic roles being newly discovered. Recently, correlations have been found between myoferlin expression and unfavorable prognosis in various carcinomas. This study investigated the prognostic role of myoferlin expression in papillary thyroid carcinoma (PTC), specifically that associated with nodal metastasis. Methods We collected clinicopathological data and PTC tissues from 116 patients who had been admitted to Gyeongsang National University Hospital in 2010. Immunohistochemical analysis was performed on surgical specimen-derived tissue microarray blocks. Myoferlin expression was graded, and the relationship between expression level and pathological features of tumors based on the American Joint Committee on Cancer staging system was evaluated. Results Of the 116 patient samples, 100 cases exhibited positive myoferlin expression. Higher grade of myoferlin expression was correlated with lower T category group (p = .010). Presence of lymph node metastasis was determined to be significantly correlated with low-grade myoferlin expression (p = .019), with no significant difference between pN1a and pN1b tumors. Conclusions Our study revealed an adverse correlation between myoferlin expression and pathological features of PTC, evidence of the potential prognostic role of myoferlin in PTC lymph node metastasis.","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"56 1","pages":"199 - 204"},"PeriodicalIF":2.4,"publicationDate":"2022-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48581485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Journal of Pathology and Translational Medicine
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1