首页 > 最新文献

Annals of Diagnostic Pathology最新文献

英文 中文
Diagnostic utility of PSMA immunohistochemistry in colorectal mass biopsy PSMA免疫组织化学在结直肠肿块活检中的诊断价值
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-28 DOI: 10.1016/j.anndiagpath.2025.152557
Xin Wang , Eundong Park , Nusret Bekir Subasi , Andrea Lightle , Hwajeong Lee
Rendering a diagnosis of invasion can be challenging in a small biopsy of a large colorectal mass-forming lesion. However, this diagnosis can have major implications in the management of patients with rectal cancer. Prostate-specific membrane antigen (PSMA) is associated with tumor neoangiogenesis. We compared PSMA expression in biopsies of invasive colorectal cancer (CRC) and in resected adenomas. 65 biopsies from invasive CRC, 48 surgically resected large adenomas and 5 CRC biopsies with sampling error (precursor adenoma was sampled without invasion) were retrieved. PSMA and CD34 immunohistochemistry were performed and the ratio of PSMA+ neovasculature to CD34+ vasculature within the tumors was compared between CRC biopsies and adenomas. In the CRC cohort, clinicopathological characteristics including desmoplasia, the amount of benign/nondysplastic tissue and tumor grade were evaluated for correlation with endothelial PSMA expression. PSMA/CD34 ratio was significantly lower in adenomas (2.8 %) and in CRC biopsies with sampling error (2.5 %) than in CRC biopsies (19.1 %). Using a 5 % cut-off, the sensitivity, specificity, positive, and negative predictive values for accurate diagnosis of CRC were 78.5 %, 83.3 %, 86.4 % and 74.1 %, respectively. A lower PSMA/CD34 ratio was associated with a higher percentage of benign tissue in the biopsy, but no other association was found between PSMA/CD34 ratio and other clinicopathologic parameters. PSMA expression is significantly higher in CRC biopsies than in precursor lesions and adenomas irrespective of the presence of desmoplasia. Our observation indicates that PSMA can serve as an adjunctive tool to confirm invasion in challenging biopsies with inconspicuous desmoplasia.
在一个大的结直肠肿块形成病变的小活检中,诊断浸润是具有挑战性的。然而,这种诊断对直肠癌患者的治疗具有重要意义。前列腺特异性膜抗原(PSMA)与肿瘤新生血管生成有关。我们比较了PSMA在侵袭性结直肠癌(CRC)和切除腺瘤活检中的表达。65例浸润性结直肠癌活检,48例手术切除的大腺瘤和5例取样错误的结直肠癌活检(前体腺瘤取样无浸润)。行PSMA和CD34免疫组化,比较结直肠癌活检组织和腺瘤组织中肿瘤内PSMA+血管与CD34+血管的比值。在结直肠癌队列中,临床病理特征包括结缔组织增生、良性/非发育不良组织的数量和肿瘤分级与内皮PSMA表达的相关性进行了评估。PSMA/CD34比值在腺瘤(2.8%)和抽样误差较大的结直肠癌活检(2.5%)中显著低于结直肠癌活检(19.1%)。使用5%的临界值,CRC准确诊断的敏感性、特异性、阳性和阴性预测值分别为78.5%、83.3%、86.4%和74.1%。较低的PSMA/CD34比值与活检中较高的良性组织百分比相关,但PSMA/CD34比值与其他临床病理参数之间未发现其他关联。无论结缔组织增生是否存在,PSMA在结直肠癌活检中的表达明显高于前体病变和腺瘤。我们的观察表明,PSMA可以作为一种辅助工具,在具有不明显的结缔组织增生的挑战性活检中确认侵袭。
{"title":"Diagnostic utility of PSMA immunohistochemistry in colorectal mass biopsy","authors":"Xin Wang ,&nbsp;Eundong Park ,&nbsp;Nusret Bekir Subasi ,&nbsp;Andrea Lightle ,&nbsp;Hwajeong Lee","doi":"10.1016/j.anndiagpath.2025.152557","DOIUrl":"10.1016/j.anndiagpath.2025.152557","url":null,"abstract":"<div><div>Rendering a diagnosis of invasion can be challenging in a small biopsy of a large colorectal mass-forming lesion. However, this diagnosis can have major implications in the management of patients with rectal cancer. Prostate-specific membrane antigen (PSMA) is associated with tumor neoangiogenesis. We compared PSMA expression in biopsies of invasive colorectal cancer (CRC) and in resected adenomas. 65 biopsies from invasive CRC, 48 surgically resected large adenomas and 5 CRC biopsies with sampling error (precursor adenoma was sampled without invasion) were retrieved. PSMA and CD34 immunohistochemistry were performed and the ratio of PSMA+ neovasculature to CD34+ vasculature within the tumors was compared between CRC biopsies and adenomas. In the CRC cohort, clinicopathological characteristics including desmoplasia, the amount of benign/nondysplastic tissue and tumor grade were evaluated for correlation with endothelial PSMA expression. PSMA/CD34 ratio was significantly lower in adenomas (2.8 %) and in CRC biopsies with sampling error (2.5 %) than in CRC biopsies (19.1 %). Using a 5 % cut-off, the sensitivity, specificity, positive, and negative predictive values for accurate diagnosis of CRC were 78.5 %, 83.3 %, 86.4 % and 74.1 %, respectively. A lower PSMA/CD34 ratio was associated with a higher percentage of benign tissue in the biopsy, but no other association was found between PSMA/CD34 ratio and other clinicopathologic parameters. PSMA expression is significantly higher in CRC biopsies than in precursor lesions and adenomas irrespective of the presence of desmoplasia. Our observation indicates that PSMA can serve as an adjunctive tool to confirm invasion in challenging biopsies with inconspicuous desmoplasia.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152557"},"PeriodicalIF":1.4,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144921526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic challenges and considerations in CD30-negative classical Hodgkin lymphoma from biopsy specimens cd30阴性经典霍奇金淋巴瘤活检标本的诊断挑战和考虑
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-26 DOI: 10.1016/j.anndiagpath.2025.152556
Yu Pan , Xiaona Zuo , Xiaolong Sui , Lei Jiang , Jiaosheng Xu , Zifen Gao , Guohua Yu
This study aimed to investigate the clinicopathological features and diagnostic strategies of CD30-negative classic Hodgkin lymphoma (cHL) based on core needle biopsy specimens. Six cases diagnosed at Yantai Yuhuangding Hospital and Beijing Gaobo Boren Hospital were retrospectively analyzed. The diagnosis was established through integrated evaluation of histomorphology and immunohistochemical (IHC) profiling. All cases underwent repeated CD30 immunostaining using multiple antibody clones and platforms to confirm true CD30 negativity. The cohort comprised five males and one female (male-to-female ratio 5:1), with a median age of 17.5 years (range: 6–86 years). Histological subtypes included four cases of mixed cellularity and two of nodular sclerosis, all demonstrating characteristic morphological features of cHL. CD30 expression was entirely absent in five cases and weakly positive in scattered tumor cells in one case. To ensure diagnostic accuracy, repeat biopsies were performed in four patients. IHC analysis revealed consistent expression of PAX5, C-MYC, ATF3, and p53 in all six cases, with variable positivity for CD20 (3/6), LCA (1/6), MUM1 (4/6), OCT2 (4/6), and BOB.1 (1/6). Epstein-Barr virus–encoded RNA (EBER) was positive in five cases (83.3 %), with none of the cases undergoing flow cytometry (FCM). Five patients received ABVD chemotherapy; four achieved complete remission, one died, and one was lost to follow-up. IDiagnosis was established based on histomorphological identification of Reed–Sternberg–like cells within a characteristic inflammatory background, in conjunction with an extended immunophenotypic panel. CD30 immunostaining was repeated using different clones and platforms to exclude technical artifacts. In cases with persistent CD30 negativity, complete excision was performed when feasible, and diagnosis was confirmed only if R-S–like cells concurrently exhibited: (1) variable or weak CD20 and LCA expression, never both strongly positive; (2) weak or absent PAX5 and MUM1; (3) discordant BOB.1 and OCT2 expression; and (4) positive c-MYC, p53, and ATF3 nuclear staining. Cases failing to meet all criteria were excluded. In conclusion, CD30-negative cHL diagnosed on limited biopsy material tends to affect younger male patients and retains typical morphological and immunophenotypic hallmarks of cHL. A thorough diagnostic approach incorporating multi-clone CD30 IHC and repeat sampling when necessary is crucial to avoid misdiagnosis in these diagnostically ambiguous cases.
本研究旨在探讨cd30阴性经典霍奇金淋巴瘤(cHL)的临床病理特征和诊断策略。回顾性分析在烟台玉皇顶医院和北京高博博人医院诊断的6例病例。诊断是通过组织形态学和免疫组化(IHC)分析的综合评估建立的。所有病例均使用多个抗体克隆和平台进行重复CD30免疫染色以确认CD30阴性。该队列包括5男1女(男女比例为5:1),年龄中位数为17.5岁(范围:6-86岁)。组织学亚型包括4例混合细胞性和2例结节性硬化,均表现出cHL的典型形态学特征。5例CD30表达完全缺失,1例分散肿瘤细胞表达弱阳性。为了确保诊断的准确性,4例患者进行了重复活检。免疫组化分析显示,所有6例患者中PAX5、C-MYC、ATF3和p53的表达一致,CD20(3/6)、LCA(1/6)、MUM1(4/6)、OCT2(4/6)和BOB.1(1/6)的表达不同。Epstein-Barr病毒编码RNA (EBER)阳性5例(83.3%),流式细胞术(FCM)检测均为阴性。5例患者接受ABVD化疗;4例完全缓解,1例死亡,1例随访失败。i诊断是基于特征性炎症背景下reed - sternberg样细胞的组织形态学鉴定,并结合扩展的免疫表型面板建立的。使用不同的克隆和平台重复CD30免疫染色以排除技术伪影。对于持续CD30阴性的病例,在可行的情况下进行完全切除,只有当r - s样细胞同时表现出:(1)CD20和LCA表达可变或弱,从未同时呈强阳性;(2) PAX5和MUM1弱或缺失;(3) BOB.1和OCT2表达不一致;(4) c-MYC、p53、ATF3核染色阳性。不符合所有标准的病例被排除在外。总之,在有限的活检材料上诊断出cd30阴性的cHL倾向于影响年轻男性患者,并保留了cHL的典型形态学和免疫表型特征。一个彻底的诊断方法,包括多克隆CD30 IHC和必要时重复采样是至关重要的,以避免误诊这些诊断模糊的病例。
{"title":"Diagnostic challenges and considerations in CD30-negative classical Hodgkin lymphoma from biopsy specimens","authors":"Yu Pan ,&nbsp;Xiaona Zuo ,&nbsp;Xiaolong Sui ,&nbsp;Lei Jiang ,&nbsp;Jiaosheng Xu ,&nbsp;Zifen Gao ,&nbsp;Guohua Yu","doi":"10.1016/j.anndiagpath.2025.152556","DOIUrl":"10.1016/j.anndiagpath.2025.152556","url":null,"abstract":"<div><div>This study aimed to investigate the clinicopathological features and diagnostic strategies of CD30-negative classic Hodgkin lymphoma (cHL) based on core needle biopsy specimens. Six cases diagnosed at Yantai Yuhuangding Hospital and Beijing Gaobo Boren Hospital were retrospectively analyzed. The diagnosis was established through integrated evaluation of histomorphology and immunohistochemical (IHC) profiling. All cases underwent repeated CD30 immunostaining using multiple antibody clones and platforms to confirm true CD30 negativity. The cohort comprised five males and one female (male-to-female ratio 5:1), with a median age of 17.5 years (range: 6–86 years). Histological subtypes included four cases of mixed cellularity and two of nodular sclerosis, all demonstrating characteristic morphological features of cHL. CD30 expression was entirely absent in five cases and weakly positive in scattered tumor cells in one case. To ensure diagnostic accuracy, repeat biopsies were performed in four patients. IHC analysis revealed consistent expression of PAX5, C-MYC, ATF3, and p53 in all six cases, with variable positivity for CD20 (3/6), LCA (1/6), MUM1 (4/6), OCT2 (4/6), and BOB.1 (1/6). Epstein-Barr virus–encoded RNA (EBER) was positive in five cases (83.3 %), with none of the cases undergoing flow cytometry (FCM). Five patients received ABVD chemotherapy; four achieved complete remission, one died, and one was lost to follow-up. IDiagnosis was established based on histomorphological identification of Reed–Sternberg–like cells within a characteristic inflammatory background, in conjunction with an extended immunophenotypic panel. CD30 immunostaining was repeated using different clones and platforms to exclude technical artifacts. In cases with persistent CD30 negativity, complete excision was performed when feasible, and diagnosis was confirmed only if R-S–like cells concurrently exhibited: (1) variable or weak CD20 and LCA expression, never both strongly positive; (2) weak or absent PAX5 and MUM1; (3) discordant BOB.1 and OCT2 expression; and (4) positive c-MYC, p53, and ATF3 nuclear staining. Cases failing to meet all criteria were excluded. In conclusion, CD30-negative cHL diagnosed on limited biopsy material tends to affect younger male patients and retains typical morphological and immunophenotypic hallmarks of cHL. A thorough diagnostic approach incorporating multi-clone CD30 IHC and repeat sampling when necessary is crucial to avoid misdiagnosis in these diagnostically ambiguous cases.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152556"},"PeriodicalIF":1.4,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144932049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
p63 immunohistochemical expression in tumor cells of high-grade invasive breast carcinomas on core biopsy: a potential diagnostic pitfall P63在高级别浸润性乳腺癌核心活检肿瘤细胞中的免疫组织化学表达:一个潜在的诊断缺陷
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-26 DOI: 10.1016/j.anndiagpath.2025.152554
Serena Salzano , Giada Maria Vecchio , Manuel Mazzucchelli , Marco Furci , Claudio Trovato , Gaetano Magro , Giuseppe Broggi
In breast pathology, p63 is a highly specific myoepithelial marker, crucial for distinguishing in situ from invasive lesions. Its expression is characteristically absent in the neoplastic cells of invasive carcinoma. However, in our diagnostic experience focal p63 expression in neoplastic cells of some high-grade breast tumors has been observed. This study aimed to describe the expression pattern of p63 in high-grade versus low and intermediate-grade invasive breast carcinomas. We performed a retrospective immunohistochemical analysis for p63 on a cohort of 60 breast core biopsies. The cases included 20 Grade 3 (G3), 20 Grade 2 (G2) and 20 Grade 1 (G1) invasive breast carcinomas, graded according the Nottingham grading system. Nuclear p63 expression in neoplastic cells was assessed and described. Positive p63 staining in neoplastic cells was identified in 16 out of 20 (80 %) high-grade invasive carcinomas. The staining pattern was typically focal and moderate in intensity. Conversely, all but one case of invasive breast carcinoma G2 showed absolute negativity for p63. All cases of low-grade invasive carcinoma also showed clear negativity for p63. A clear association between p63 expression in neoplastic cells and G3 grading was observed.
Our findings suggest that p63 expression can be a feature of high-grade invasive breast carcinoma. Although this findings represents a potential diagnostic pitfall, especially on small core biopsy samples, the awareness of this possibility can also allow p63 to serve as a helpful ancillary clue for identifying high-grade disease.
在乳腺病理学中,p63是一个高度特异性的肌上皮标志物,对于区分原位病变和侵袭性病变至关重要。它在侵袭性癌的肿瘤细胞中不表达。然而,根据我们的诊断经验,在一些高级别乳腺肿瘤的肿瘤细胞中观察到局灶性p63的表达。本研究旨在描述p63在高级别、低级别和中级别浸润性乳腺癌中的表达模式。我们对60例乳腺核心活检进行了p63的回顾性免疫组织化学分析。3级(G3) 20例,2级(G2) 20例,1级(G1) 20例,按照Nottingham分级系统进行分级。评估和描述肿瘤细胞中核p63的表达。20例(80%)高级别浸润性癌中有16例肿瘤细胞p63染色阳性。典型的灶性和中等强度的染色模式。相反,除一例浸润性乳腺癌G2外,其余病例p63均为绝对阴性。所有低级别浸润性癌均显示p63明显阴性。p63在肿瘤细胞中的表达与G3分级有明显的相关性。我们的研究结果表明p63表达可能是高级别浸润性乳腺癌的一个特征。尽管这一发现代表了一个潜在的诊断缺陷,特别是在小的核心活检样本中,但对这种可能性的认识也可以使p63作为识别高级别疾病的有用辅助线索。
{"title":"p63 immunohistochemical expression in tumor cells of high-grade invasive breast carcinomas on core biopsy: a potential diagnostic pitfall","authors":"Serena Salzano ,&nbsp;Giada Maria Vecchio ,&nbsp;Manuel Mazzucchelli ,&nbsp;Marco Furci ,&nbsp;Claudio Trovato ,&nbsp;Gaetano Magro ,&nbsp;Giuseppe Broggi","doi":"10.1016/j.anndiagpath.2025.152554","DOIUrl":"10.1016/j.anndiagpath.2025.152554","url":null,"abstract":"<div><div>In breast pathology, p63 is a highly specific myoepithelial marker, crucial for distinguishing in situ from invasive lesions. Its expression is characteristically absent in the neoplastic cells of invasive carcinoma. However, in our diagnostic experience focal p63 expression in neoplastic cells of some high-grade breast tumors has been observed. This study aimed to describe the expression pattern of p63 in high-grade versus low and intermediate-grade invasive breast carcinomas. We performed a retrospective immunohistochemical analysis for p63 on a cohort of 60 breast core biopsies. The cases included 20 Grade 3 (G3), 20 Grade 2 (G2) and 20 Grade 1 (G1) invasive breast carcinomas, graded according the Nottingham grading system. Nuclear p63 expression in neoplastic cells was assessed and described. Positive p63 staining in neoplastic cells was identified in 16 out of 20 (80 %) high-grade invasive carcinomas. The staining pattern was typically focal and moderate in intensity. Conversely, all but one case of invasive breast carcinoma G2 showed absolute negativity for p63. All cases of low-grade invasive carcinoma also showed clear negativity for p63. A clear association between p63 expression in neoplastic cells and G3 grading was observed.</div><div>Our findings suggest that p63 expression can be a feature of high-grade invasive breast carcinoma. Although this findings represents a potential diagnostic pitfall, especially on small core biopsy samples, the awareness of this possibility can also allow p63 to serve as a helpful ancillary clue for identifying high-grade disease.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152554"},"PeriodicalIF":1.4,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144932047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
B/T mixed phenotype acute leukemia revealing immunophenotypic lineage-genotype associations and frequent myelodysplasia-related cytogenetic/gene abnormalities: implication for diagnosis and treatment B/T混合表型急性白血病揭示免疫表型谱系-基因型关联和频繁骨髓增生异常相关的细胞遗传学/基因异常:对诊断和治疗的意义
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-26 DOI: 10.1016/j.anndiagpath.2025.152540
Lina Han, Van Tuong Nguyen, Ruifang Zheng, Franklin Fuda, Miguel D. Cantu, Prasad Koduru, Jesse M. Jaso, Olga K. Weinberg, Sharon Germans, Mingyi Chen, Jing Xu, Weina Chen
B/T mixed-phenotype acute leukemia (MPAL) is a rare subtype of leukemia with diagnostic and therapeutic challenges due to its rarity, genomic diversity, and evolving diagnostic criteria. We report six cases of B/T MPAL with clinicopathological and genomic characterization. Most cases (5/6) demonstrated immunophenotypic/lineage-genotype-associations, i.e., T-lineage predominant B/T MPAL with T-lymphoblastic leukemia (T-ALL) genotype whereas B/T-lineage codominant B/T MPAL with combined T-ALL/B-ALL genotype. Furthermore, most patients (5/6) carried myelodysplasia-related (MR) cytogenetic-gene-alterations [MR-CG-Gene, as defined in acute myeloid leukemia (AML)-MR (AML-MR)], harboring ALL-genotype, and responded well to ALL-based induction regimens. These findings indicate that B/T MPAL with MR-CG-Gene is more appropriately diagnosed as MPAL rather than AML-MR. Our study is the first to demonstrate immunophenotypic lineage-genotype associations and frequent MR-CG-Gene in B/T MPAL and advocate more studies to refine diagnostic criteria.
B/T混合表型急性白血病(MPAL)是一种罕见的白血病亚型,由于其罕见性、基因组多样性和不断发展的诊断标准,给诊断和治疗带来了挑战。我们报告6例B/T MPAL的临床病理和基因组特征。大多数病例(5/6)表现出免疫表型/谱系-基因型关联,即T系显性B/T MPAL与T淋巴母细胞白血病(T- all)基因型相关,而B/T系共显性B/T MPAL与T- all /B- all基因型相关。此外,大多数患者(5/6)携带骨髓增生异常相关(MR)细胞遗传学基因改变[MR- cg基因,定义为急性髓性白血病(AML)-MR (AML-MR)],携带all基因型,对基于all的诱导方案反应良好。这些结果表明,携带mr - cg基因的B/T MPAL比AML-MR更适合诊断为MPAL。我们的研究首次证明了B/T MPAL的免疫表型谱系-基因型关联和mr - cg -基因频繁存在,并倡导更多的研究来完善诊断标准。
{"title":"B/T mixed phenotype acute leukemia revealing immunophenotypic lineage-genotype associations and frequent myelodysplasia-related cytogenetic/gene abnormalities: implication for diagnosis and treatment","authors":"Lina Han,&nbsp;Van Tuong Nguyen,&nbsp;Ruifang Zheng,&nbsp;Franklin Fuda,&nbsp;Miguel D. Cantu,&nbsp;Prasad Koduru,&nbsp;Jesse M. Jaso,&nbsp;Olga K. Weinberg,&nbsp;Sharon Germans,&nbsp;Mingyi Chen,&nbsp;Jing Xu,&nbsp;Weina Chen","doi":"10.1016/j.anndiagpath.2025.152540","DOIUrl":"10.1016/j.anndiagpath.2025.152540","url":null,"abstract":"<div><div>B/T mixed-phenotype acute leukemia (MPAL) is a rare subtype of leukemia with diagnostic and therapeutic challenges due to its rarity, genomic diversity, and evolving diagnostic criteria. We report six cases of B/T MPAL with clinicopathological and genomic characterization. Most cases (5/6) demonstrated immunophenotypic/lineage-genotype-associations, i.e., T-lineage predominant B/T MPAL with T-lymphoblastic leukemia (T-ALL) genotype whereas B/T-lineage codominant B/T MPAL with combined T-ALL/B-ALL genotype. Furthermore, most patients (5/6) carried myelodysplasia-related (MR) cytogenetic-gene-alterations [MR-CG-Gene, as defined in acute myeloid leukemia (AML)-MR (AML-MR)], harboring ALL-genotype, and responded well to ALL-based induction regimens. These findings indicate that B/T MPAL with MR-CG-Gene is more appropriately diagnosed as MPAL rather than AML-MR. Our study is the first to demonstrate immunophenotypic lineage-genotype associations and frequent MR-CG-Gene in B/T MPAL and advocate more studies to refine diagnostic criteria.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152540"},"PeriodicalIF":1.4,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144906888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
“Letter to the editor: MTAP and p16 as immunohistochemical surrogates of CDKN2A/B homozygous deletion in central nervous system tumors: A multicentre Italian experience.” “致编辑的信:MTAP和p16作为CDKN2A/B纯合缺失在中枢神经系统肿瘤中的免疫组织化学替代物:一项多中心的意大利经验。”
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-26 DOI: 10.1016/j.anndiagpath.2025.152555
Sanhia Maheshwari
{"title":"“Letter to the editor: MTAP and p16 as immunohistochemical surrogates of CDKN2A/B homozygous deletion in central nervous system tumors: A multicentre Italian experience.”","authors":"Sanhia Maheshwari","doi":"10.1016/j.anndiagpath.2025.152555","DOIUrl":"10.1016/j.anndiagpath.2025.152555","url":null,"abstract":"","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152555"},"PeriodicalIF":1.4,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144921527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of SOX6 immunohistochemical expression as a diagnostic marker in the distinction of epithelioid mesothelioma from lung carcinomas SOX6免疫组织化学表达作为区分上皮样间皮瘤和肺癌的诊断标志物的评价
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-26 DOI: 10.1016/j.anndiagpath.2025.152553
Fatma Samy Hafez , Safaa Mahmoud Mohamed Abdelkhalek , Shaimaa Abdelraouf Elgohary
Epithelioid mesothelioma (EM) is a pleural malignancy whose many histopathologic patterns may overlap considerably with those of lung adenocarcinoma (LAC) or poorly differentiated squamous cell carcinoma (SCC). This study aimed to evaluate the diagnostic role of SOX6 immunohistochemical expression in EM, study its differential expression in EM, LAC, and SCC, and evaluate the utility of various combinations of SOX6 with established EM markers calretinin and D2–40. The study included 39 EM, 21 LAC, and 11 SCC cases. SOX6 expression was detected in 71.8 % of EM cases. Conversely, all SCC cases were SOX6-negative, and only two LAC cases were SOX6-positive (P < 0.001). The sensitivity and specificity of SOX6 in identifying EM was 71.8 % and 93.8 %, respectively. Calretinin and D2–40 expression was detected in 100 % and 97.4 % cases of EM, respectively. The diagnostic sensitivity of SOX6 for EM in combination with D2–40 and/or calretinin was higher than SOX6 as a solitary marker. Notably, the sensitivity of calretinin and/or SOX6 positive expression was 100 % higher than that of SOX6 combination with D2–40. Although the sensitivity of SOX6 is lower than that of other established markers for EM, it may be a fairly specific marker for the diagnosis of EM. Therefore, the inclusion of SOX6 into an immunohistochemical panel may have diagnostic utility in distinguishing between EM and lung carcinomas. However, more research is needed on a wider array of tumor types from various organs to truly understand its global specificity.
上皮样间皮瘤(EM)是一种胸膜恶性肿瘤,其许多组织病理模式可能与肺腺癌(LAC)或低分化鳞状细胞癌(SCC)有很大的重叠。本研究旨在评估SOX6免疫组织化学表达在EM中的诊断作用,研究其在EM、LAC和SCC中的差异表达,并评估SOX6与已建立的EM标志物calretinin和D2-40的不同组合的有效性。该研究包括39例EM, 21例LAC和11例SCC。在71.8%的EM病例中检测到SOX6表达。相反,所有SCC病例均为sox6阴性,只有2例LAC病例为sox6阳性(P < 0.001)。SOX6对EM的敏感性和特异性分别为71.8%和93.8%。Calretinin和D2-40在EM中的表达分别为100%和97.4%。SOX6联合D2-40和/或calretinin对EM的诊断敏感性高于SOX6作为单独标志物。值得注意的是,calretinin和/或SOX6阳性表达的敏感性比SOX6与D2-40联合的敏感性高100%。虽然SOX6的敏感性低于其他已建立的EM标记物,但它可能是EM诊断的一个相当特异性的标记物。因此,将SOX6纳入免疫组织化学小组可能在区分EM和肺癌方面具有诊断价值。然而,为了真正了解它的全局特异性,还需要对来自不同器官的更广泛的肿瘤类型进行更多的研究。
{"title":"Evaluation of SOX6 immunohistochemical expression as a diagnostic marker in the distinction of epithelioid mesothelioma from lung carcinomas","authors":"Fatma Samy Hafez ,&nbsp;Safaa Mahmoud Mohamed Abdelkhalek ,&nbsp;Shaimaa Abdelraouf Elgohary","doi":"10.1016/j.anndiagpath.2025.152553","DOIUrl":"10.1016/j.anndiagpath.2025.152553","url":null,"abstract":"<div><div>Epithelioid mesothelioma (EM) is a pleural malignancy whose many histopathologic patterns may overlap considerably with those of lung adenocarcinoma (LAC) or poorly differentiated squamous cell carcinoma (SCC). This study aimed to evaluate the diagnostic role of SOX6 immunohistochemical expression in EM, study its differential expression in EM, LAC, and SCC, and evaluate the utility of various combinations of SOX6 with established EM markers calretinin and D2–40. The study included 39 EM, 21 LAC, and 11 SCC cases. SOX6 expression was detected in 71.8 % of EM cases. Conversely, all SCC cases were SOX6-negative, and only two LAC cases were SOX6-positive (<em>P</em> &lt; 0.001). The sensitivity and specificity of SOX6 in identifying EM was 71.8 % and 93.8 %, respectively. Calretinin and D2–40 expression was detected in 100 % and 97.4 % cases of EM, respectively. The diagnostic sensitivity of SOX6 for EM in combination with D2–40 and/or calretinin was higher than SOX6 as a solitary marker. Notably, the sensitivity of calretinin and/or SOX6 positive expression was 100 % higher than that of SOX6 combination with D2–40. Although the sensitivity of SOX6 is lower than that of other established markers for EM, it may be a fairly specific marker for the diagnosis of EM. Therefore, the inclusion of SOX6 into an immunohistochemical panel may have diagnostic utility in distinguishing between EM and lung carcinomas. However, more research is needed on a wider array of tumor types from various organs to truly understand its global specificity.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152553"},"PeriodicalIF":1.4,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144988605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Radiological-pathological correlation in encapsulated papillary carcinoma of the breast 乳腺包膜状乳头状癌的影像学病理相关性
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-19 DOI: 10.1016/j.anndiagpath.2025.152552
Ying Zhang , Ya Gao , Jinrong Wei , Zhifen Dong
The study aims to investigate the radiological-pathological correlation in encapsulated papillary carcinoma (EPC) of the breast. We recruited patients with breast EPC between April 2016 and March 2025, and divided them into 3 histologic subtypes: pure EPC, EPC with ductal carcinoma in situ (DCIS), and EPC with invasive carcinoma (IC). Clinical, pathological, mammographic and ultrasonographic manifestations of the three histologic subtypes were analyzed. A total of 48 female patients with EPC were enrolled, with an average onset age of 62.2 ± 12.7 years. Histopathological analysis revealed 25 (52.1 %) pure EPC, 10 (20.8 %) EPC with DCIS, and 13 (27.1 %) EPC with IC. Immunohistochemistry indicated Luminal A predominated in pure EPC and EPC with IC, while Luminal B was more common in EPC with DCIS. The majority of mammography images showed high density or equal density masses with regular shape, and there were no significant differences in the size, morphology, margin, or internal calcification of tumors among the three histologic subtypes (P > 0.05). The majority of ultrasonography images of EPCs showed cystic and solid echogenicity masses with regular morphology and rich blood flow signals. There were no significant differences in the size, echo type, margin, posterior echo enhancement, or blood flow of tumors among the three histologic subtypes of EPC (P > 0.05), but the EPC with IC had a higher proportion of irregular morphology compared with pure EPC (P < 0.05). Therefore, mammography or ultrasonography alone is insufficient to distinguish the histologic subtypes of EPC, but irregular shape on ultrasonography should raise suspicion for non-pure EPC subtypes.
本研究旨在探讨乳腺包封性乳头状癌(EPC)的放射学与病理学的相关性。我们招募了2016年4月至2025年3月期间的乳腺EPC患者,并将其分为3个组织学亚型:纯EPC、EPC合并导管原位癌(DCIS)和EPC合并浸润性癌(IC)。分析三种组织学亚型的临床、病理、x线及超声表现。共纳入48例女性EPC患者,平均发病年龄为62.2±12.7岁。组织病理学分析显示,纯EPC 25例(52.1%),合并DCIS的EPC 10例(20.8%),合并IC的EPC 13例(27.1%)。免疫组化显示,纯EPC和合并IC的EPC中以Luminal A为主,合并DCIS的EPC中以Luminal B多见。乳腺x线影像多表现为高密度或等密度肿块,形状规则,三种组织学亚型间肿瘤大小、形态、边缘、内部钙化无显著差异(P > 0.05)。EPCs超声多表现为囊性、实性回声团块,形态规则,血流信号丰富。三种组织学亚型EPC在肿瘤大小、回声类型、边缘、后回声增强、血流等方面均无统计学差异(P < 0.05),但合并IC的EPC不规则形态比例高于单纯EPC (P < 0.05)。因此,单纯的乳房x线或超声检查不足以区分EPC的组织学亚型,超声检查上的不规则形状应引起对非纯EPC亚型的怀疑。
{"title":"Radiological-pathological correlation in encapsulated papillary carcinoma of the breast","authors":"Ying Zhang ,&nbsp;Ya Gao ,&nbsp;Jinrong Wei ,&nbsp;Zhifen Dong","doi":"10.1016/j.anndiagpath.2025.152552","DOIUrl":"10.1016/j.anndiagpath.2025.152552","url":null,"abstract":"<div><div>The study aims to investigate the radiological-pathological correlation in encapsulated papillary carcinoma (EPC) of the breast. We recruited patients with breast EPC between April 2016 and March 2025, and divided them into 3 histologic subtypes: pure EPC, EPC with ductal carcinoma in situ (DCIS), and EPC with invasive carcinoma (IC). Clinical, pathological, mammographic and ultrasonographic manifestations of the three histologic subtypes were analyzed. A total of 48 female patients with EPC were enrolled, with an average onset age of 62.2 ± 12.7 years. Histopathological analysis revealed 25 (52.1 %) pure EPC, 10 (20.8 %) EPC with DCIS, and 13 (27.1 %) EPC with IC. Immunohistochemistry indicated Luminal A predominated in pure EPC and EPC with IC, while Luminal B was more common in EPC with DCIS. The majority of mammography images showed high density or equal density masses with regular shape, and there were no significant differences in the size, morphology, margin, or internal calcification of tumors among the three histologic subtypes (<em>P</em> &gt; 0.05). The majority of ultrasonography images of EPCs showed cystic and solid echogenicity masses with regular morphology and rich blood flow signals. There were no significant differences in the size, echo type, margin, posterior echo enhancement, or blood flow of tumors among the three histologic subtypes of EPC (<em>P</em> &gt; 0.05), but the EPC with IC had a higher proportion of irregular morphology compared with pure EPC (<em>P</em> &lt; 0.05). Therefore, mammography or ultrasonography alone is insufficient to distinguish the histologic subtypes of EPC, but irregular shape on ultrasonography should raise suspicion for non-pure EPC subtypes.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152552"},"PeriodicalIF":1.4,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144888659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deep learning-based quantitative assessment of renal chronicity indices in lupus nephritis 基于深度学习的狼疮性肾炎肾慢性指标定量评价
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-19 DOI: 10.1016/j.anndiagpath.2025.152537
Tianqi TU , Hui WANG , Jiangbo PEI , Xiaojuan YU , Aidong MEN , Suxia WANG , Qingchao CHEN , Ying TAN , Feng YU , Minghui ZHAO
Renal chronicity indices (CI) have been identified as strong predictors of long-term outcomes in lupus nephritis (LN) patients. However, assessment by pathologists is hindered by challenges such as substantial time requirements, high interobserver variation, and susceptibility to fatigue. This study aims to develop an effective deep learning (DL) pipeline that automates the assessment of CI and provides valuable prognostic insights from a disease-specific perspective.
We curated a dataset comprising 282 slides obtained from 141 patients across two independent cohorts with a complete 10-years follow-up. Our DL pipeline was developed on 60 slides (22,410 patch images) from 30 patients in the training cohort and evaluated on both an internal testing set (148 slides, 77,605 patch images) and an external testing set (74 slides, 27,522 patch images).
The study included two cohorts with slight demographic differences, particularly in age and hemoglobin levels. The DL pipeline showed high segmentation performance across tissue compartments and histopathologic lesions, outperforming state-of-the-art methods. The DL pipeline also demonstrated a strong correlation with pathologists in assessing CI, significantly improving interobserver agreement. Additionally, the DL pipeline enhanced prognostic accuracy, particularly in outcome prediction, when combined with clinical parameters and pathologist-assessed CIs.
The DL pipeline demonstrated accuracy and efficiency in assessing CI in LN, showing promise in improving interobserver agreement among pathologists. It also exhibited significant value in prognostic analysis and enhancing outcome prediction in LN patients, offering a valuable tool for clinical decision-making.
肾脏慢性指数(CI)已被确定为狼疮性肾炎(LN)患者长期预后的有力预测指标。然而,病理学家的评估受到诸如大量时间要求、观察者之间的高度差异和对疲劳的易感性等挑战的阻碍。本研究旨在开发一种有效的深度学习(DL)管道,使CI评估自动化,并从特定疾病的角度提供有价值的预后见解。我们策划了一个数据集,包括282张幻灯片,来自两个独立队列的141名患者,随访时间为10年。我们的DL管道是在来自30名训练队列患者的60张幻灯片(22,410张补丁图像)上开发的,并在内部测试集(148张幻灯片,77,605张补丁图像)和外部测试集(74张幻灯片,27,522张补丁图像)上进行评估。该研究包括两个具有轻微人口统计学差异的队列,特别是在年龄和血红蛋白水平上。DL管道在组织区室和组织病理病变之间显示出高分割性能,优于最先进的方法。DL管道在评估CI时也与病理学家表现出很强的相关性,显著提高了观察者之间的一致性。此外,当与临床参数和病理评估ci相结合时,DL管道提高了预后准确性,特别是在结果预测方面。DL管道在评估LN的CI方面显示出准确性和效率,显示出提高病理学家之间观察者之间一致性的希望。它在LN患者的预后分析和预后预测中也显示出显著的价值,为临床决策提供了有价值的工具。
{"title":"Deep learning-based quantitative assessment of renal chronicity indices in lupus nephritis","authors":"Tianqi TU ,&nbsp;Hui WANG ,&nbsp;Jiangbo PEI ,&nbsp;Xiaojuan YU ,&nbsp;Aidong MEN ,&nbsp;Suxia WANG ,&nbsp;Qingchao CHEN ,&nbsp;Ying TAN ,&nbsp;Feng YU ,&nbsp;Minghui ZHAO","doi":"10.1016/j.anndiagpath.2025.152537","DOIUrl":"10.1016/j.anndiagpath.2025.152537","url":null,"abstract":"<div><div>Renal chronicity indices (CI) have been identified as strong predictors of long-term outcomes in lupus nephritis (LN) patients. However, assessment by pathologists is hindered by challenges such as substantial time requirements, high interobserver variation, and susceptibility to fatigue. This study aims to develop an effective deep learning (DL) pipeline that automates the assessment of CI and provides valuable prognostic insights from a disease-specific perspective.</div><div>We curated a dataset comprising 282 slides obtained from 141 patients across two independent cohorts with a complete 10-years follow-up. Our DL pipeline was developed on 60 slides (22,410 patch images) from 30 patients in the training cohort and evaluated on both an internal testing set (148 slides, 77,605 patch images) and an external testing set (74 slides, 27,522 patch images).</div><div>The study included two cohorts with slight demographic differences, particularly in age and hemoglobin levels. The DL pipeline showed high segmentation performance across tissue compartments and histopathologic lesions, outperforming state-of-the-art methods. The DL pipeline also demonstrated a strong correlation with pathologists in assessing CI, significantly improving interobserver agreement. Additionally, the DL pipeline enhanced prognostic accuracy, particularly in outcome prediction, when combined with clinical parameters and pathologist-assessed CIs.</div><div>The DL pipeline demonstrated accuracy and efficiency in assessing CI in LN, showing promise in improving interobserver agreement among pathologists. It also exhibited significant value in prognostic analysis and enhancing outcome prediction in LN patients, offering a valuable tool for clinical decision-making.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152537"},"PeriodicalIF":1.4,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144902381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hyalinizing trabecular tumor of the thyroid: A comprehensive review of clinicopathological features, diagnostic dilemmas, and emerging molecular insights 甲状腺透明化小梁肿瘤:临床病理特征、诊断困境和新兴分子见解的综合综述
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-13 DOI: 10.1016/j.anndiagpath.2025.152539
Yinghe Huang , Shanshan Liu , Yilei Wen
Hyalinizing trabecular tumor (HTT), a rare thyroid neoplasm, is defined by its unique histopathological architecture and diagnostic complexity due to morphological mimicry of papillary thyroid carcinoma (PTC) and medullary thyroid carcinomas (MTC). This review consolidates contemporary insights into HTT's clinicopathological spectrum, diagnostic ambiguities, and molecular underpinnings. Epidemiologically, HTT predominantly affects middle-aged females, manifesting as circumscribed, asymptomatic nodules. Histologically, trabecular clusters of neoplastic cells embedded within hyalinized stroma are pathognomonic. The nuclear grooves and pseudoinclusions characteristic of HTT overlap with those of PTC, while amyloid-like deposits risk misclassification as MTC, necessitating comprehensive ancillary testing. Definitive diagnosis combines key tests: MIB1 membranous staining. BRAF V600E exclusion for PTC, and calcitonin negativity for MTC exclusion. Emerging molecular evidence reveals recurrent PAX8::GLIS3 fusions in >90 % of cases, suggesting diagnostic utility, though their prognostic relevance remains elusive. The most recent WHO classification categorizes HTT as a “low risk neoplasm” owing to the exceptionally low frequency with which it displays lymph node metastases, although debates persist regarding its intrinsic biological behavior. This review underscores the imperative for multidisciplinary collaboration to refine diagnostic accuracy, mitigate overtreatment, and advance targeted therapeutic strategies based on HTT's unique molecular profile.
摘要透明化性甲状腺小梁瘤(HTT)是一种罕见的甲状腺肿瘤,由于其形态与甲状腺乳头状癌(PTC)和甲状腺髓样癌(MTC)相似,具有独特的组织病理结构和诊断复杂性。本综述整合了对HTT临床病理谱、诊断模糊性和分子基础的当代见解。流行病学上,HTT主要影响中年女性,表现为局限的无症状结节。组织学上,透明化间质内嵌肿瘤细胞的小梁簇是典型的。HTT的核槽和假内含物特征与PTC重叠,淀粉样沉积物有被误分类为MTC的风险,需要综合辅助检测。明确诊断结合关键检查:MIB1膜染色。PTC排除BRAF V600E, MTC排除降钙素阴性。新出现的分子证据显示,90%的病例中复发性PAX8::GLIS3融合,提示诊断实用性,尽管其预后相关性尚不明确。世卫组织最近的分类将HTT归类为“低风险肿瘤”,因为它显示淋巴结转移的频率非常低,尽管关于其内在生物学行为的争论仍然存在。这篇综述强调了多学科合作的必要性,以提高诊断准确性,减轻过度治疗,并基于HTT独特的分子特征推进靶向治疗策略。
{"title":"Hyalinizing trabecular tumor of the thyroid: A comprehensive review of clinicopathological features, diagnostic dilemmas, and emerging molecular insights","authors":"Yinghe Huang ,&nbsp;Shanshan Liu ,&nbsp;Yilei Wen","doi":"10.1016/j.anndiagpath.2025.152539","DOIUrl":"10.1016/j.anndiagpath.2025.152539","url":null,"abstract":"<div><div>Hyalinizing trabecular tumor (HTT), a rare thyroid neoplasm, is defined by its unique histopathological architecture and diagnostic complexity due to morphological mimicry of papillary thyroid carcinoma (PTC) and medullary thyroid carcinomas (MTC). This review consolidates contemporary insights into HTT's clinicopathological spectrum, diagnostic ambiguities, and molecular underpinnings. Epidemiologically, HTT predominantly affects middle-aged females, manifesting as circumscribed, asymptomatic nodules. Histologically, trabecular clusters of neoplastic cells embedded within hyalinized stroma are pathognomonic. The nuclear grooves and pseudoinclusions characteristic of HTT overlap with those of PTC, while amyloid-like deposits risk misclassification as MTC, necessitating comprehensive ancillary testing. Definitive diagnosis combines key tests: MIB1 membranous staining. <em>BRAF V600E</em> exclusion for PTC, and calcitonin negativity for MTC exclusion. Emerging molecular evidence reveals recurrent <em>PAX8::GLIS3</em> fusions in &gt;90 % of cases, suggesting diagnostic utility, though their prognostic relevance remains elusive. The most recent WHO classification categorizes HTT as a “low risk neoplasm” owing to the exceptionally low frequency with which it displays lymph node metastases, although debates persist regarding its intrinsic biological behavior. This review underscores the imperative for multidisciplinary collaboration to refine diagnostic accuracy, mitigate overtreatment, and advance targeted therapeutic strategies based on HTT's unique molecular profile.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152539"},"PeriodicalIF":1.4,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144867037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SOX10 and TRPS1 in triple-negative breast cancer: Promise, pitfalls, and the need for broader validation SOX10和TRPS1在三阴性乳腺癌中的应用:前景、缺陷和需要更广泛的验证
IF 1.4 4区 医学 Q3 PATHOLOGY Pub Date : 2025-08-13 DOI: 10.1016/j.anndiagpath.2025.152538
Kadri Altundag
Elgohary et al. reported high TRPS1 and moderate SOX10 expression in triple-negative breast cancer (TNBC). While these findings suggest potential diagnostic value, the absence of non-breast controls, variation in positivity thresholds, and exclusion of small biopsy and neoadjuvant-treated cases limit applicability in metastatic settings. Broader, multi-tumor validation—benchmarked against established marker panels—is needed before routine use in TNBC diagnosis.
Elgohary等人报道了TRPS1在三阴性乳腺癌(TNBC)中的高表达和SOX10的中等表达。虽然这些发现提示了潜在的诊断价值,但缺乏非乳腺对照,阳性阈值的变化,以及排除小活检和新辅助治疗的病例限制了转移情况的适用性。在常规用于TNBC诊断之前,需要更广泛的多肿瘤验证-以已建立的标志物组为基准。
{"title":"SOX10 and TRPS1 in triple-negative breast cancer: Promise, pitfalls, and the need for broader validation","authors":"Kadri Altundag","doi":"10.1016/j.anndiagpath.2025.152538","DOIUrl":"10.1016/j.anndiagpath.2025.152538","url":null,"abstract":"<div><div>Elgohary et al. reported high TRPS1 and moderate SOX10 expression in triple-negative breast cancer (TNBC). While these findings suggest potential diagnostic value, the absence of non-breast controls, variation in positivity thresholds, and exclusion of small biopsy and neoadjuvant-treated cases limit applicability in metastatic settings. Broader, multi-tumor validation—benchmarked against established marker panels—is needed before routine use in TNBC diagnosis.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152538"},"PeriodicalIF":1.4,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144851891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","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
Annals of Diagnostic Pathology
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:604180095
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