皮肤FUS: tfcp2重排横纹肌肉瘤最初误诊为alk -重排间质肿瘤1例。

IF 1.1 4区 医学 Q3 DERMATOLOGY
Daigo Shiraishi, Kenji Murata, Junya Shimizu, Yasutaka Murahashi, Taro Sugawara, Shintaro Sugita, Makoto Emori, Atsushi Teramoto
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引用次数: 0

摘要

FUS:: tfcp2重排横纹肌肉瘤是一种最近发现的恶性肿瘤,其特征是横纹肌母细胞标记物和ALK共同表达的免疫组织化学证据。在此,我们报告一例皮肤梭形细胞/硬化横纹肌肉瘤合并FUS::TFCP2融合,最初被解释为一种alk重排的间充质肿瘤,患者为43岁男性,由于横纹肌母细胞标记物desmin表达阴性。RNA测序检测ALK融合对应物;然而,没有观察到ALK对应的融合,并且检测到FUS::TFCP2融合。Myogenin阴性,MyoD1阳性。利用FISH检测FUS信号可诊断为FUS:: tfcp2重排横纹肌肉瘤。在ALK阳性和梭形细胞或上皮样细胞形态的病例中,应考虑FUS:: tfcp2重排横纹肌肉瘤的鉴别诊断,使用横纹肌母细胞标记物染色而不是desmin。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cutaneous FUS::TFCP2-Rearranged Rhabdomyosarcoma Initially Misdiagnosed as ALK-Rearranged Mesenchymal Neoplasm: A Case Report.

FUS::TFCP2-rearranged rhabdomyosarcoma is a recently identified malignant neoplasm characterized by immunohistochemical evidence of the co-expression of rhabdomyoblastic markers and ALK. Herein, we report a case of cutaneous spindle cell/sclerosing rhabdomyosarcoma with FUS::TFCP2 fusion that was initially interpreted as an ALK-rearranged mesenchymal neoplasm in a 43-year-old male due to negative desmin expression, a rhabdomyoblastic marker. RNA sequencing was performed to detect ALK fusion counterparts; however, no ALK counterpart fusion was observed, and FUS::TFCP2 fusion was detected. Myogenin was negative, but MyoD1 was positive. Detection of FUS signals using FISH led to the diagnosis of FUS::TFCP2-rearranged rhabdomyosarcoma. In cases of ALK positivity and spindle cell or epithelioid cell morphology, FUS::TFCP2-rearranged rhabdomyosarcoma should be considered in the differential diagnosis using staining for rhabdomyoblastic markers other than desmin.

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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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