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MAML2 基因重排几乎存在于所有汗腺瘤中:20 例系列病例再评估。

MAML2 Gene Rearrangement Occurs in Nearly All Hidradenomas: A Reappraisal in a Series of 20 Cases.

机构信息

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.

出版信息

Am J Dermatopathol. 2022 Nov 1;44(11):806-811. doi: 10.1097/DAD.0000000000002276. Epub 2022 Jul 28.

Abstract

Hidradenoma is a benign cutaneous adnexal neoplasm that occurs across a wide age range and at a variety of anatomic sites. Its most characteristic morphologic feature is the presence of diverse cell types including squamoid, clear, plasmacytoid, and mucinous cells. Hidradenoma is morphologically and molecularly similar to mucoepidermoid carcinoma, and both tumors are characterized by recurrent CRTC1-MAML2 cytogenetic translocations. Previous studies have suggested that approximately half of hidradenomas possess this translocation. This finding raised the question of whether translocation-negative hidradenomas might have an alternate molecular basis. Here, we sought to reevaluate the frequency of MAML2 translocation in hidradenoma in a series of 20 cases. We find that 90% show evidence of MAML2 translocation, suggesting that this genetic event is a nearly invariant feature of hidradenoma. These results inform our molecular understanding of this tumor and may be useful in challenging cases to distinguish hidradenoma from its histologic mimics.

摘要

汗管瘤是一种发生于广泛年龄范围和多种解剖部位的良性皮肤附属器肿瘤。其最具特征性的形态学特征是存在多种细胞类型,包括鳞样、透明、浆细胞样和黏液样细胞。汗管瘤在形态学和分子上与黏液表皮样癌相似,两种肿瘤均以反复发生的 CRTC1-MAML2 细胞遗传学易位为特征。先前的研究表明,大约一半的汗管瘤具有这种易位。这一发现提出了一个问题,即易位阴性的汗管瘤是否可能具有替代的分子基础。在这里,我们试图在一系列 20 例病例中重新评估汗管瘤中 MAML2 易位的频率。我们发现 90%的病例显示出 MAML2 易位的证据,这表明这种遗传事件几乎是汗管瘤的一个不变特征。这些结果为我们对该肿瘤的分子理解提供了信息,并可能在具有挑战性的病例中有助于将汗管瘤与组织学模拟物区分开来。

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