CRTC1::MAML2-Positive Hidradenoma With Sebaceous Differentiation.

IF 1.1 4区 医学 Q3 DERMATOLOGY
Megumi Aoki, Keisuke Goto, Kazuyasu Fujii, Mitsuharu Nomoto, Masamichi Goto, Manami Kajiwara, Toshitaka Nagao, Shigeto Matsushita
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引用次数: 0

Abstract

Hidradenoma can exhibit several cell types, including clear cells, polyhedral eosinophilic cells, squamoid cells, mucinous cells, oxyphilic (oncocytic) cells, and transitional (intermediate) cells. However, sebocytes have not yet been described in hidradenoma. Here, we present a case of CRTC1::MAML2-positive hidradenoma with sebaceous differentiation. In addition, this tumor had two cell-type layers that were morphologically similar to apocrine glandular cells and myoepithelial cells throughout the lesion. A 66-year-old male presented with a 20 mm nodule on his upper lip with a 3-year history. Histopathological examination revealed a multinodular tumor adherent to the overlying epidermis. No surrounding salivary glands were seen. The tumor consisted of eosinophilic ductoglandular cells surrounded by basaloid cells at the outer periphery. Numerous sebocytes were scattered throughout the tumor. Severe nuclear atypia or mitotic figures were not observed. Immunohistochemical examination showed no expression of α-smooth muscle actin, calponin, and S100 protein in the tumor cells. Adipophilin highlighted scattered sebocytic tumor cells. Immunoexpression of MLH1, PMS2, MSH2, and MSH6 was preserved. MAML2 break-apart fluorescence in situ hybridization revealed frequent split signals. Sanger sequencing revealed a CRTC1(e1)::MAML2(e2) fusion. Based on this report, hidradenoma should be included in the differential diagnosis of cutaneous adnexal tumors with sebaceous differentiation other than sebaceous adnexal tumors. In addition, sebocytes should be added to the list of tumor cell types in hidradenoma.

CRTC1:: maml2阳性皮脂腺瘤。
汗腺瘤可表现为几种细胞类型,包括透明细胞、多面体嗜酸性细胞、鳞状细胞、黏液细胞、嗜氧细胞和过渡性细胞。然而,在汗腺瘤中尚未发现脂细胞。在此,我们报告一例CRTC1:: maml2阳性皮脂腺瘤伴皮脂腺分化。此外,该肿瘤具有两种细胞型层,其形态与整个病变的大汗腺细胞和肌上皮细胞相似。66岁男性,上唇有20毫米结节,病史3年。组织病理学检查显示多结节性肿瘤粘附于上覆表皮。周围未见唾液腺。肿瘤由嗜酸性管腺细胞组成,外周由基底细胞包围。大量皮脂细胞散布在肿瘤各处。未见严重的核异型或有丝分裂象。免疫组化检查未见肿瘤细胞中α-平滑肌肌动蛋白、钙钙蛋白、S100蛋白的表达。脂亲蛋白突出了分散的皮脂细胞肿瘤细胞。保留MLH1、PMS2、MSH2和MSH6的免疫表达。MAML2断裂荧光原位杂交显示频繁的分裂信号。Sanger测序显示CRTC1(e1)::MAML2(e2)融合。根据本报告,除皮脂腺性附件肿瘤外,皮脂腺分化的皮肤附件肿瘤应纳入汗腺瘤的鉴别诊断。此外,应将皮脂细胞添加到汗腺瘤的肿瘤细胞类型列表中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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