Diagnostic Pathology最新文献_第10页

Extradural spinal melanoma: is it primary or metastatic? A case report with a brief review of literature 脊柱外黑色素瘤：是原发性还是转移性？病例报告及文献综述

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-20 DOI: 10.1186/s13000-024-01475-4

Raghav Kapoor, Anurag Mehta, Anila Sharma, Shrinidhi Nathany, Himanshi Diwan, Divya Bansal

Melanocytic lesions involving the central nervous system are extremely rare and pose a diagnostic challenge owing melanoma being the third most common malignancy metastasizing to the spine. Morphology and immunohistochemistry are identical in both primary and secondary cases, and hence may not help in rendering a final diagnosis. Molecular alterations involving melanomas of the spine and melanomas elsewhere are distinct and help establish the appropriate diagnosis. We report an interesting case where molecular profiling of the tumor tissue helped render the final diagnosis.

累及中枢神经系统的黑色素细胞病变极为罕见，由于黑色素瘤是转移到脊柱的第三大常见恶性肿瘤，因此给诊断带来了挑战。原发性和继发性病例的形态学和免疫组化均相同，因此可能无助于做出最终诊断。脊柱黑色素瘤和其他部位黑色素瘤的分子改变是不同的，有助于确定适当的诊断。我们报告了一个有趣的病例，肿瘤组织的分子图谱分析有助于最终诊断。

引用次数: 0

Comprehensive evaluation of the relationship between biomarker profiles and neoadjuvant chemotherapy outcomes for breast cancer patients 全面评估乳腺癌患者的生物标志物特征与新辅助化疗结果之间的关系

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-20 DOI: 10.1186/s13000-024-01451-y

Mijia Wang, Zhendong Wei, Jixia Kong, Haidong Zhao

Accurately predicting the response to neoadjuvant chemotherapy (NAC) in breast cancer patients is crucial for guiding treatment strategies and enhancing clinical outcomes. Current studies have primarily focused on a limited set of biomarkers. More importantly, the results of many studies are in conflict. To address this, we conducted a comprehensive evaluation of the predictive value of a diverse range of clinically available molecular biomarkers in breast cancer, including HER2, ER, PR, TOPO II, EGFR, Ki67, CK5/6, AR, and p53. Additionally, we assessed changes in these biomarkers after NAC administration. Our study involved 189 patients with invasive breast cancer who underwent NAC at our institute. We examined biomarker profiles in core-needle biopsies taken before NAC and in surgical specimens obtained after NAC. We examined the association between these biomarkers and NAC outcomes, focusing on two main aspects: the rate of pathological complete response (pCR) and the reduction in tumor size. We used Chi-square and Mann-Whitney U tests to compare biomarker status changes between pCR and non-pCR patients. Linear regression analysis was employed to evaluate the relationship between biomarker status and tumor shrinkage rate. Additionally, we compared the expression status of these biomarkers before and after NAC using Chi-square and Wilcoxon signed-rank tests. Our results demonstrated significant differences in the expression levels of HER2, ER, PR, TOPO II, EGFR, and Ki67 between pCR and non-pCR patients, underscoring their potential as predictive markers for NAC outcomes. Importantly, our results have shed light on the contentious issue surrounding TOPO II in NAC outcome prediction. We have provided evidence that establishes a significantly positive association between TOPO II expression level and the pCR rate. Notably, tumor size was identified as a relevant predictive factor for achieving pCR. Regarding biomarker profiles, only Ki67 levels and TOPO II status exhibited changes following NAC, resolving previous controversies. While the ER and PR status remained unchanged, their expression values exhibited a slight but significant decrease post-NAC. Our results provide clarity and insights into the value and potential of using these biomarkers to predict NAC responses and prognosis in breast cancer patients.

准确预测乳腺癌患者对新辅助化疗（NAC）的反应对于指导治疗策略和提高临床疗效至关重要。目前的研究主要集中在一组有限的生物标志物上。更重要的是，许多研究结果相互矛盾。为了解决这个问题，我们对临床上可用的各种乳腺癌分子生物标记物的预测价值进行了全面评估，包括 HER2、ER、PR、TOPO II、表皮生长因子受体、Ki67、CK5/6、AR 和 p53。此外，我们还评估了服用 NAC 后这些生物标志物的变化。我们的研究涉及在本研究所接受 NAC 治疗的 189 例浸润性乳腺癌患者。我们检查了在 NAC 之前提取的核心针活检样本和 NAC 之后提取的手术标本中的生物标志物概况。我们研究了这些生物标志物与新农合结果之间的关联，重点关注两个主要方面：病理完全反应率（pCR）和肿瘤体积缩小。我们使用卡方检验（Chi-square）和曼惠特尼U检验（Mann-Whitney U）来比较pCR和非pCR患者的生物标志物状态变化。我们采用线性回归分析来评估生物标志物状态与肿瘤缩小率之间的关系。此外，我们还使用Chi-square和Wilcoxon符号秩检验比较了NAC前后这些生物标志物的表达状态。我们的结果表明，在 pCR 和非 pCR 患者之间，HER2、ER、PR、TOPO II、表皮生长因子受体（EGFR）和 Ki67 的表达水平存在明显差异，这凸显了它们作为 NAC 结果预测标志物的潜力。重要的是，我们的研究结果揭示了新农合预后预测中围绕 TOPO II 的争议问题。我们提供的证据表明，TOPO II 表达水平与 pCR 率之间存在显著的正相关。值得注意的是，肿瘤大小被认为是获得 pCR 的相关预测因素。在生物标志物特征方面，只有 Ki67 水平和 TOPO II 状态在 NAC 后发生了变化，解决了之前的争议。虽然 ER 和 PR 状态保持不变，但它们的表达值在 NAC 后出现了轻微但显著的下降。我们的研究结果阐明了使用这些生物标志物预测乳腺癌患者 NAC 反应和预后的价值和潜力。

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引用次数: 0

High incidence of HPV infection in minors with oral squamous cell carcinoma. 患有口腔鳞状细胞癌的未成年人中 HPV 感染率很高。

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-09 DOI: 10.1186/s13000-024-01470-9

Ningxiang Wu, Yonghui Li, Xiaokun Ma, Zhen Huang, Zhuoxuan Chen, Weihua Chen, Ran Zhang

Background: Oral squamous cell carcinoma in minors is considered to be a distinct entity from OSCC in older patients, with an uncertain etiology. Human papillomavirus (HPV) infection may trigger the initiation and promote the progression of OSCC, but these roles have not been firmly established.We aimed to explore the correlation between HPV infection and the development of oral squamous cell carcinoma in minors and know the characteristics of OSCC in young patients more thoroughly.

Method: From January 2013 to December 2022,6 cases of OSCC aged < 15 years were selected from the Department of Oral Pathology, Peking University School of Stomatology, Beijing, China. All cases underwent testing for high-risk HPV mRNA infection using the RNA scope technique, and immunohistochemical staining was performed to investigate the expression of p16, pan-cytokeratin (CK), CK5/6, CK7, CK8/18, epidermal growth factor receptor (EGFR), p53, and Ki-67. Furthermore, we reviewed the literature on OSCC in patients aged < 21 years.

Conclusions: Minors OSCC is associated with HPV infection, and that p16 can serve as an immunohistochemical marker of HPV positivity.

背景：未成年人口腔鳞状细胞癌被认为是与老年患者口腔鳞状细胞癌截然不同的实体，其病因尚不确定。我们旨在探讨人乳头瘤病毒（HPV）感染与未成年人口腔鳞状细胞癌发病的相关性，并更深入地了解年轻患者口腔鳞状细胞癌的特点：方法：自2013年1月至2022年12月，共收治6例老年OSCC患者：未成年人OSCC与HPV感染有关，p16可作为HPV阳性的免疫组化标志物。

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引用次数: 0

Two lymphoma histotypes and papillary thyroid carcinoma coexisting on Hashimoto ground: a case report and review of the literature. 两种淋巴瘤组织类型和甲状腺乳头状癌并存的桥本氏病：病例报告和文献综述。

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-09 DOI: 10.1186/s13000-024-01472-7

Igor Iskra, Maja Ilić Tomaš, Tatjana Bogović Crnčić, Edvin Kukić, Ita Hadžisejdić, Manuela Avirović, Neva Girotto

Background: Papillary carcinoma is the most frequent type of thyroid carcinoma, while primary thyroid lymphoma is uncommon disease. The coexistence of these entities has already been described, and the common risk factor is considered Hashimoto thyroiditis. The two most frequent histotypes of primary thyroid lymphoma are diffuse large B-cell and mucosa-associated lymphoid tissue lymphoma, but the coexistence of both with papillary carcinoma is rarely reported.

Methods: We present a case of a previously healthy 57-years old male with rapidly growing lump on the right side of the neck. Ultrasonography revealed nodules in both thyroid lobes. Fine needle aspiration cytology and pertechnetate scintigraphy were performed. Due to the Bethesda T-5 in the "cold" nodule of the right lobe, surgery with histopathological and immunohistochemistry analysis was indicated.

Results: Histopathological and immunohistochemistry methods confirmed concomitant malignancies in the thyroid gland: diffuse large B-cell lymphoma and papillary carcinoma in the right, and mucosa-associated lymphoid tissue lymphoma in the left lobe with Hashimoto thyroiditis in the remaining tissue. Patient underwent therapy procedures and was without signs of local recurrence or metastatic spread on subsequent follow-up.

Conclusions: Sudden appearance of the neck mass in patients with Hashimoto thyroiditis should raise suspicion on primary thyroid lymphoma and be promptly taken in the diagnostic workup, including fine needle aspiration cytology. Pathology with immunohistochemistry is crucial for further clinical decision making. Since the standardized protocol in management of these complex patients is missing, personal approach and close collaboration between cytologist, pathologist, surgeon, haematologist and nuclear medicine specialist is essential.

背景：乳头状癌是最常见的甲状腺癌类型，而原发性甲状腺淋巴瘤则是不常见的疾病。这些疾病同时存在的情况已有描述，其共同的风险因素被认为是桥本甲状腺炎。原发性甲状腺淋巴瘤最常见的两种组织类型是弥漫大B细胞淋巴瘤和粘膜相关淋巴组织淋巴瘤，但这两种淋巴瘤与乳头状癌同时存在的报道很少：本病例是一名 57 岁的男性，颈部右侧肿块生长迅速。超声波检查发现两侧甲状腺叶均有结节。随后进行了细针穿刺细胞学检查和过硫酸盐闪烁扫描。由于右叶 "冷 "结节中的贝塞斯达T-5，因此需要进行手术，并进行组织病理学和免疫组化分析：组织病理学和免疫组化方法证实甲状腺同时存在恶性肿瘤：右侧为弥漫大B细胞淋巴瘤和乳头状癌，左叶为粘膜相关淋巴组织淋巴瘤，其余组织为桥本氏甲状腺炎。患者接受了治疗程序，在随后的随访中没有出现局部复发或转移扩散的迹象：结论：桥本氏甲状腺炎患者突然出现颈部肿块，应怀疑原发性甲状腺淋巴瘤，并及时进行诊断性检查，包括细针穿刺细胞学检查。免疫组化病理检查对于进一步的临床决策至关重要。由于目前还没有处理这些复杂患者的标准化方案，因此细胞学专家、病理学专家、外科医生、血液学专家和核医学专家之间的个人方法和密切合作至关重要。

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引用次数: 0

Histological criteria for selecting patients who need clonality test for non-gastric MALT lymphoma diagnosis. 在诊断非胃 MALT 淋巴瘤时选择需要进行克隆检验的患者的组织学标准。

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-08 DOI: 10.1186/s13000-024-01471-8

Dajeong Park, Junhun Cho

The histological diagnosis of extranodal marginal zone lymphoma of the mucosa-associated lymphoid tissue (MALT lymphoma) is difficult for pathologists. Recently, digital pathology systems have been widely used to provide tools that can objectively measure lesions on slides. In this study, we measured the extent of marginal zone expansion in suspected MALT lymphoma cases and compared the results with those of a molecular clonality test. In total, 115 patients who underwent an IGH gene rearrangement test for suspected MALT lymphoma were included in this study. All cases were histologically classified into three patterns; "small lymphoid aggregates with no germinal center (Pattern 1)," "lymphoid follicles with germinal center (Pattern 2)" and " fused marginal zone or diffuse small lymphocytic proliferation (Pattern 3)." The proportions of monoclonality in Pattern 1, 2, and 3 were 25.0%, 55.0%, and 97.9%, respectively. The ratios of marginal zone thickness to germinal center diameter and entire lymphoid follicle area to germinal center area were measured in Pattern 2 cases using a digital pathology system. Combining the width cutoff of 1.5 and the areal cutoff of 3.5, the sensitivity, specificity, positive predictive value, and negative predictive value for MALT lymphoma were 96.97%, 70.37%, 80.00%, and 95.00%, respectively. In conclusion, through objective measurement of the marginal zone, suspected cases of MALT lymphoma requiring a molecular clonality test can be effectively selected.

病理学家很难对粘膜相关淋巴组织外结节边缘区淋巴瘤（MALT淋巴瘤）进行组织学诊断。最近，数字病理系统得到了广泛应用，为客观测量切片上的病变提供了工具。在这项研究中，我们测量了疑似 MALT 淋巴瘤病例的边缘区扩展程度，并将结果与分子克隆性检测结果进行了比较。本研究共纳入了115例接受IGH基因重排检测的疑似MALT淋巴瘤患者。所有病例在组织学上分为三种模式："无生殖中心的小淋巴细胞聚集（模式1）"、"有生殖中心的淋巴滤泡（模式2）"和 "融合边缘区或弥漫性小淋巴细胞增生（模式3）"。模式 1、2 和 3 的单克隆比例分别为 25.0%、55.0% 和 97.9%。使用数字病理系统测量了模式 2 病例的边缘区厚度与生发中心直径之比，以及整个淋巴滤泡面积与生发中心面积之比。结合宽度临界值 1.5 和面积临界值 3.5，MALT 淋巴瘤的敏感性、特异性、阳性预测值和阴性预测值分别为 96.97%、70.37%、80.00% 和 95.00%。总之，通过对边缘区的客观测量，可以有效筛选出需要进行分子克隆性检测的 MALT 淋巴瘤疑似病例。

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引用次数: 0

Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review. 结节性硬化症复合体牙龈巨细胞血管纤维瘤：病例报告和文献综述。

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-08 DOI: 10.1186/s13000-024-01467-4

Qiaochu Sun, Jaeyoung Ryu, Young Kim

Background: Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC.

Case presentation: A 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, "confetti" skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery.

Conclusions: We report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC.

背景：结节性硬化症复合体（TSC）是一种罕见的复杂遗传性疾病，其特征是在不同器官系统中出现仓鼠肉瘤和肿瘤性病变。随着放射学和基因检测技术的发展，2012年国际共识会议更新了TSC的诊断标准。长期以来，口腔内纤维瘤一直与TSC有关。然而，巨细胞血管纤维瘤（GCA）在TSC患者中的发病率却极为罕见。在此，我们报告了首例TSC患者牙龈组织中的GCA病例：一名 41 岁的女性首次到全南大学牙科医院口腔颌面外科就诊，主诉牙龈肿大。临床检查发现了几种与 TSC 相关的表现，包括口腔内纤维瘤、面部血管纤维瘤、牙釉质凹陷、单龈纤维瘤、"纸屑 "状皮损、色素减退性斑丘疹和长绿斑。口腔内检查发现，左下颌有一个 6.0 × 5.0 厘米的牙龈增生。手术切除后，组织病理学检查确诊为 GCA。术后 24 个月内无复发迹象：我们报告了首例在 TSC 患者牙龈组织中发现 GCA 的病例。结论：我们报告了首例在 TSC 患者牙龈组织中发现 GCA 的病例，这将有助于加深对这种罕见疾病的了解。然而，还需要更多的病例报告来阐明GCA与TSC之间的关系。

{"title":"Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review.","authors":"Qiaochu Sun, Jaeyoung Ryu, Young Kim","doi":"10.1186/s13000-024-01467-4","DOIUrl":"10.1186/s13000-024-01467-4","url":null,"abstract":"Background: Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC.Case presentation: A 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, \"confetti\" skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery.Conclusions: We report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC.","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10921606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140065046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

PKM2 promotes lymphatic metastasis of hypopharyngeal carcinoma via regulating epithelial-mesenchymal transition: an experimental research PKM2 通过调控上皮-间质转化促进下咽癌的淋巴转移：一项实验研究

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-02 DOI: 10.1186/s13000-024-01474-5

Xin Zhou, Yanshi Li, Min Pan, Tao Lu, Chuan Liu, Zhihai Wang, Fengxiang Tang, Guohua Hu

Patients with hypopharyngeal carcinoma (HPC) have a poor prognosis mainly because of lymphatic metastasis. This research aimed to determine the PKM2 role in lymphatic metastasis in HPC and the underlying molecular mechanism contributing to this phenomenon. PKM2 in HPC was studied for its expression and its likelihood of overall survival using TCGA dataset. Western blotting, qRT-PCR, and IHC were employed to confirm PKM2 expression. Methods including gain- and loss-of-function were used to examine the PKM2 role in HPC metastasis in vitro and in vivo. In vitro and in vivo studies also confirmed lymphatic metastasis’s mechanism. Prominent PKM2 overexpression was seen in patients with lymphatic metastasis of HPC, and there was an inherent relationship between a high PKM2 level and poor prognosis. In vitro research showed that knocking down PKM2 decreased tumor cell invasion, migration, and proliferation while promoting apoptosis and inhibiting epithelial-mesenchymal transition, but overexpressing PKM2 had the reverse effect. Animal studies suggested that PKM2 may facilitate tumor development and lymphatic metastasis. Our findings suggest that PKM2 may be a tumor’s promoter gene of lymphatic metastasis, which may promote lymphatic metastasis of HPC by regulating epithelial-mesenchymal transition. PKM2 may be a biomarker of metastatic potential, ultimately providing a basis for exploring new therapeutic targets.

下咽癌（HPC）患者预后不良的主要原因是淋巴转移。本研究旨在确定PKM2在下咽癌淋巴转移中的作用以及导致这一现象的潜在分子机制。本研究利用TCGA数据集研究了PKM2在HPC中的表达及其与总生存率的关系。研究采用了 Western 印迹、qRT-PCR 和 IHC 来确认 PKM2 的表达。采用功能增益和功能缺失等方法研究了 PKM2 在 HPC 体外和体内转移中的作用。体外和体内研究也证实了淋巴转移的机制。PKM2在HPC淋巴转移患者中明显过表达，且PKM2水平高与预后不良之间存在内在联系。体外研究表明，敲除 PKM2 可减少肿瘤细胞的侵袭、迁移和增殖，同时促进细胞凋亡和抑制上皮-间质转化，但过表达 PKM2 则效果相反。动物实验表明，PKM2 可促进肿瘤发生和淋巴转移。我们的研究结果表明，PKM2可能是肿瘤淋巴转移的启动基因，它可能通过调节上皮-间质转化促进HPC的淋巴转移。PKM2可能是转移潜力的生物标志物，最终为探索新的治疗靶点提供依据。

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引用次数: 0

Cerebrospinal fluid and blood exosomes as biomarkers for amyotrophic lateral sclerosis; a systematic review 脑脊液和血液外泌体作为肌萎缩性脊髓侧索硬化症的生物标记物；系统综述

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-01 DOI: 10.1186/s13000-024-01473-6

Shahram Darabi, Armin Ariaei, Auob Rustamzadeh, Dariush Afshari, Enam Alhagh Charkhat Gorgich, Leila Darabi

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal motor neuron disease. Due to the limited knowledge about potential biomarkers that help in early diagnosis and monitoring disease progression, today’s diagnoses are based on ruling out other diseases, neurography, and electromyography examination, which takes a time-consuming procedure. PubMed, ScienceDirect, and Web of Science were explored to extract articles published from January 2015 to June 2023. In the searching strategy following keywords were included; amyotrophic lateral sclerosis, biomarkers, cerebrospinal fluid, serum, and plama. A total number of 6 studies describing fluid-based exosomal biomarkers were included in this study. Aggregated proteins including SOD1, TDP-43, pTDP-43, and FUS could be detected in the microvesicles (MVs). Moreover, TDP-43 and NFL extracted from plasma exosomes could be used as prognostic biomarkers. Also, downregulated miR-27a-3p detected through exoEasy Maxi and exoQuick Kit in the plasma could be measured as a diagnostic biomarker. Eventually, the upregulated level of CORO1A could be used to monitor disease progression. Based on the results, each biomarker alone is insufficient to evaluate ALS. CNS-derived exosomes contain multiple ALS-related biomarkers (SOD1, TDP-43, pTDP-43, FUS, and miRNAs) that are detectable in cerebrospinal fluid and blood is a proper alternation. Exosome detecting kits listed as exoEasy, ExoQuick, Exo-spin, ME kit, ExoQuick Plus, and Exo-Flow, are helpful to reach this purpose.

肌萎缩侧索硬化症（ALS）是一种进行性致命运动神经元疾病。由于对有助于早期诊断和监测疾病进展的潜在生物标志物了解有限，目前的诊断主要基于排除其他疾病、神经影像学检查和肌电图检查，而这需要耗费大量时间。我们对 PubMed、ScienceDirect 和 Web of Science 进行了检索，以提取 2015 年 1 月至 2023 年 6 月期间发表的文章。搜索策略包括以下关键词：肌萎缩性脊髓侧索硬化症、生物标志物、脑脊液、血清和血浆。本研究共纳入了 6 项描述基于脑脊液外泌体生物标记物的研究。在微囊泡（MVs）中可检测到包括SOD1、TDP-43、pTDP-43和FUS在内的聚集蛋白。此外，从血浆外泌体中提取的TDP-43和NFL可作为预后生物标志物。通过exoEasy Maxi和exoQuick Kit检测到的血浆中下调的miR-27a-3p也可作为诊断生物标志物。最终，CORO1A 的上调水平可用于监测疾病的进展。根据研究结果，仅靠每种生物标记物不足以评估渐冻人症。中枢神经系统衍生的外泌体含有多种 ALS 相关生物标记物（SOD1、TDP-43、pTDP-43、FUS 和 miRNA），可在脑脊液和血液中检测到，这是一种适当的交替。exoEasy、ExoQuick、Exo-spin、ME kit、ExoQuick Plus 和 Exo-Flow 等外泌体检测试剂盒都有助于达到这一目的。

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引用次数: 0

Re-evaluating a historic cohort of sinonasal and skull base mucoepidermoid carcinoma: an institutional experience 重新评估鼻窦和颅底粘液表皮样癌的历史队列：机构经验

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-03-01 DOI: 10.1186/s13000-024-01466-5

Chunyan Hu, Lan Lin, Ming Ye, Yifeng Liu, Qiang Huang, Cuncun Yuan, Ji Sun, Hui Sun

Primary mucoepidermoid carcinomas (MECs) of the sinonasal tract and nasopharynx are rare entities that represent a diagnostic challenge, especially in biopsy samples. Herein, we present a case series of MECs of the sinonasal and skull base and its mimics to evaluate the clinicopathological and molecular characteristics in order to avoid misdiagnosis. We reviewed the pathology records of patients diagnosed from 2014 to 2022. Thirty MECs were consecutively diagnosed during that period. Based on morphological and fluorescence in situ hybridization (FISH) analyses, 30 tumors originally diagnosed as MECs were separated into MAML2 fusion-positive (7 cases) and MAML2 fusion-negative groups (23 cases), in which 14 tumors were positive for the EWSR1::ATF1 fusion; these tumors were reclassified to have hyalinizing clear cell carcinoma (HCCC). The remaining nine MAML2 FISH negative cases were reconfirmed as squamous cell carcinoma (SCC, 3 cases) which showed keratinization and high Ki-67 expression; DEK::AFF2 carcinomas (2 cases), in which DEK gene rearrangement was detected by FISH; and MECs as previously described (4 cases) with typical morphological features. Including 7 MAML2 rearrangements tumors, 11 MEC cases had a male-to-female ratio of 4.5:1, and 6 tumors arose from the nasopharyngeal region, while 5 tumors arose from the sinonasal region. The prognosis of this series of salivary gland-type MECs was favorable. Our study confirmed that HCCC runs the risk of being misdiagnosed as MEC in the sinonasal tract and nasopharynx, particularly with biopsy specimens. Careful histological evaluation with supporting molecular testing can facilitate pathological diagnoses.

鼻窦道和鼻咽的原发性粘液表皮样癌（MECs）是一种罕见的实体肿瘤，尤其是活检样本的诊断是一个难题。在此，我们对鼻窦和颅底的原发性大肠埃希氏腺癌及其类似物进行了病例系列研究，以评估其临床病理和分子特征，从而避免误诊。我们回顾了2014年至2022年期间确诊患者的病理记录。在此期间连续确诊了30例MEC。根据形态学和荧光原位杂交（FISH）分析，将最初诊断为MEC的30例肿瘤分为MAML2融合阳性组（7例）和MAML2融合阴性组（23例），其中14例肿瘤的EWSR1::ATF1融合阳性；这些肿瘤被重新分类为透明透明细胞癌（HCCC）。其余 9 例 MAML2 FISH 阴性病例被重新确认为鳞状细胞癌（SCC，3 例），表现为角化和高 Ki-67 表达；DEK::AFF2 癌（2 例），其中通过 FISH 检测到 DEK 基因重排；以及之前描述的具有典型形态特征的 MECs（4 例）。包括7例MAML2基因重排肿瘤在内，11例MEC的男女比例为4.5:1，6例肿瘤来自鼻咽部，5例肿瘤来自鼻窦部。这一系列唾液腺型 MEC 的预后良好。我们的研究证实，HCCC 有可能被误诊为鼻窦道和鼻咽部的 MEC，尤其是活检标本。仔细的组织学评估和辅助的分子检测有助于病理诊断。

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引用次数: 0

Incidental detection of Cladosporium in cytology. 在细胞学中偶然发现克拉多孢子菌。

IF 2.6 3区医学 Q2 Medicine

Diagnostic Pathology

Pub Date : 2024-02-29 DOI: 10.1186/s13000-024-01469-2

Tummidi Santosh, Indranil Chakrabarti, Aparna Palit, Sonakshi Srivastava

Background: Fungal infection incidental detection is a common encounter in cytopathology practices. Detection of the fungal organisms and awareness of the morphological features are challenges for the cytopathologist.

Case presentation: We report a case of incidental detection of a fungal organism in a 67-year-old male patient with complaints of bilateral elbow joint swellings. Cytology was done and showed a fungal organism (Cladosporium sps.).

Conclusion: Fine needle aspiration cytology (FNAC) along with Rapid on-site evaluation (ROSE) is a rapid, minimally invasive technique used for the diagnosis and detection of various fungi / parasites leading to early and definitive treatment.

背景：在细胞病理学实践中，偶然发现真菌感染是一种常见现象。真菌的检测和形态特征的认识是细胞病理学家面临的挑战：我们报告了一例偶然发现真菌的病例，患者是一名 67 岁的男性，主诉双侧肘关节肿胀。细胞学检查结果显示为真菌（Cladosporium sps.）：结论：细针穿刺细胞学检查（FNAC）与快速现场评估（ROSE）是一种快速、微创的技术，可用于诊断和检测各种真菌/寄生虫，从而及早进行明确治疗。

引用次数: 0