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肛门生殖器区域和臀部的乳头状汗腺囊腺瘤:16例报告,包括人乳头瘤病毒分析以及HRAS和BRAF V600突变研究

Syringocystadenoma Papilliferum of the Anogenital Area and Buttocks: A Report of 16 Cases, Including Human Papillomavirus Analysis and HRAS and BRAF V600 Mutation Studies.

作者信息

Konstantinova Anastasia M, Kyrpychova Liubov, Nemcova Jana, Sedivcova Monica, Bisceglia Michele, Kutzner Heinz, Zamecnik Michal, Sehnalkova Eva, Pavlovsky Michal, Zateckova Kamila, Shvernik Sergej, Spurkova Zuzana, Michal Michal, Kerl Katrin, Kazakov Dmitry V

机构信息

Department of Pathology, Clinical Research and Practical Center for Specialized Oncological Care, Saint-Petersburg, Russia.

Department of Pathology, Medical Faculty, Saint-Petersburg State University, Saint Petersburg, Russia.

出版信息

Am J Dermatopathol. 2019 Apr;41(4):281-285. doi: 10.1097/DAD.0000000000001285.

Abstract

Syringocystadenoma papilliferum (SCAP) is a benign tumor most commonly located on the head and neck area often associated with nevus sebaceus. In its usual location, the human papillomavirus (HPV) DNA and mutations in the RAS/mitogen-activated protein kinase signaling pathway have been detected in SCAP. We studied 16 cases of SCAP in the anogenital areas and buttock where this neoplasm is rare and attempted to find out whether SCAP in these sites have different histopathological and molecular biological features. It seems that there is no significant difference between the morphology of anogenital SCAP and SCAP in other locations. Several tumors in our cohort demonstrated features resembling those seen in warts, but HPV DNA was not found in these lesions. On the contrary, we identified DNA of HPV high-risk types in some tumors without HPV-related morphology. Our study confirms the role of HRAS and BRAF V600 mutations in the pathogenesis of SCAP, including SCAP in the anogenital areas and buttock.

摘要

乳头状汗管囊腺瘤(SCAP)是一种良性肿瘤,最常见于头颈部区域,常与皮脂腺痣相关。在其常见部位,已在SCAP中检测到人乳头瘤病毒(HPV)DNA以及RAS/丝裂原活化蛋白激酶信号通路中的突变。我们研究了16例发生于肛门生殖器区域和臀部的SCAP病例,该肿瘤在这些部位较为罕见,并试图找出这些部位的SCAP是否具有不同的组织病理学和分子生物学特征。肛门生殖器部位的SCAP与其他部位的SCAP在形态上似乎没有显著差异。我们队列中的一些肿瘤表现出类似疣的特征,但在这些病变中未发现HPV DNA。相反,我们在一些没有HPV相关形态的肿瘤中鉴定出了高危型HPV的DNA。我们的研究证实了HRAS和BRAF V600突变在SCAP发病机制中的作用,包括发生于肛门生殖器区域和臀部的SCAP。

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