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结节性汗腺瘤和汗管癌的临床病理和基因组拷贝数变异分析,重点关注具有预后重要特征的内容。

Clinicopathological and genomic copy number variation analysis in nodular hidradenoma and hidradenocarcinoma with focus on prognostically important features.

机构信息

Dahl-Chase Pathology Associates, P.A, Bangor, ME, 04401, USA.

Department of Pathology, St. Mary's Hospital, Madison, WI, 53744, USA.

出版信息

Hum Pathol. 2022 Nov;129:103-112. doi: 10.1016/j.humpath.2022.08.004. Epub 2022 Sep 6.

Abstract

Nodular hidradenoma is a cutaneous adnexal tumor of sweat gland origin, characterized by its diverse but overlapping histomorphologic features with other skin tumors. In addition, distinction of benign hidradenoma and its malignant counterpart hidradenocarcinoma can be challenging, especially in prognostic prediction. We retrospectively reviewed pathological features of 29 cases, including benign nodular hidradenoma (n = 17) and hidradenocarcinoma (n = 12), with clinical follow-up ranging from 18 to 216 months. Genomic copy number variation (CNV) was studied in selected cases (n = 18) by single nucleotide polymorphism microarray. None of the benign hidradenomas (0/17) or low-grade hidradenocarcinomas (0/6) had recurrence or metastasis after complete excision, whereas all 6 high-grade hidradenocarcinomas (6/6) showed locally destructive disease, recurrence, or local metastases. In benign hidradenomas, CNV abnormality was absent in all clear cell hidradenomas (0/5) but was detected in a considerable portion of poroid hidradenoma (3/5), with number of abnormalities ranging 2, 4, and 9. In malignant cases, regardless of morphological classification, both low-grade hidradenocarcinomas demonstrated limited CNV abnormalities in 2 areas (2/2), whereas all high-grade hidradenocarcinomas contained 8 or more CNV abnormalities (6/6). No disease-associated death was recorded in the cohort except one case was lost to follow-up after the development of metastatic disease. Overall, the findings support that genomic CNV abnormalities may serve as a sensitive but less specific tool in detecting malignancy in these tumors, and potentially have a role in predicting clinical behavior particularly in the tumors of nonporoid morphology.

摘要

结节性汗腺瘤是一种皮肤附属器肿瘤,起源于汗腺,其组织形态学特征具有多样性,但与其他皮肤肿瘤有重叠。此外,良性汗腺瘤和其恶性 counterpart 汗管癌的鉴别具有挑战性,特别是在预后预测方面。我们回顾性分析了 29 例病例的病理特征,包括良性结节性汗腺瘤(n=17)和汗管癌(n=12),临床随访时间为 18 至 216 个月。在选定的病例中(n=18)通过单核苷酸多态性微阵列研究了基因组拷贝数变异(CNV)。在完全切除后,所有良性汗腺瘤(0/17)或低级别汗管癌(0/6)均无复发或转移,而所有 6 例高级别汗管癌(6/6)均表现为局部破坏性疾病、复发或局部转移。在良性汗腺瘤中,所有透明细胞汗腺瘤(0/5)均无 CNV 异常,但相当一部分 Poroid 汗腺瘤(3/5)存在异常,异常数为 2、4 和 9。在恶性病例中,无论形态学分类如何,低级别汗管癌均在 2 个区域显示有限的 CNV 异常(2/2),而所有高级别汗管癌均包含 8 个或更多的 CNV 异常(6/6)。除了 1 例病例在发生转移性疾病后失访外,该队列中没有与疾病相关的死亡记录。总的来说,这些发现支持基因组 CNV 异常可能作为一种敏感但特异性较低的工具,用于检测这些肿瘤中的恶性肿瘤,并且可能在预测临床行为方面发挥作用,特别是在非 Poroid 形态的肿瘤中。

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