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Cutaneous pilomatrical carcinosarcoma: a case report with molecular analysis and literature review

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Title: Cutaneous pilomatrical carcinosarcoma: a case report with molecular analysis and literature review
Authors: Luong, Thi My Hanh / Akazawa, Yuko / Mussazhanova, Zhanna / Matsuda, Katsuya / Ueki, Nozomi / Miura, Shiro / Hara, Toshihide / Yokoyama, Hiroko / Nakashima, Masahiro
Issue Date: 31-Jan-2020
Publisher: BioMed Central Ltd.
Citation: Diagnostic pathology, 15(1), art.no.7; 2020
Abstract: Background: Cutaneous pilomatrical carcinosarcoma (CS) is a very rare biphasic tumor composed of admixed epithelial and mesenchymal malignant cells, with limited information on its pathogenesis. We report a case of pilomatrical CS of the scalp with comparative immunohistochemical and molecular analysis together with a review of the literature. Case presentation: A 74-year-old woman presented with a rapidly growing long-standing tumor of the scalp. The tumor was surgically resected. Histologically, the tumor was 25 mm in diameter, and was composed of carcinoma showing a clear pilomatrical differentiation and sarcoma with pleomorphic spindle cells and giant cells. Both epithelial and mesenchymal components shared focal cytoplasmic and/or nuclear accumulation of β-catenin based on immunohistochemical analysis, although a mutation of exon 3 of the CTNNB1 gene was not detected. Fluorescence in situ hybridization analysis revealed gains of chromosomes 9p21, 3, and 7 in both the epithelial and sarcomatous components. Conclusions: The current case demonstrated characteristic findings of pilomatricoma and further evidence of partial clonality between the carcinomatous and sarcomatous component, suggesting the possibility of malignant transformation of pilomatricoma. Rapid growth of a pilomatrical tumor should warrant the development of a malignant tumor, including CS.
Keywords: Carcinosarcoma / Skin / β-Catenin
URI: http://hdl.handle.net/10069/39662
DOI: 10.1186/s13000-020-0925-y
Rights: © The Author(s). 2020 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/39662

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