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软组织肌上皮癌伴 基因融合：一例婴儿病例报告。

Myoepithelial Carcinoma of Soft Tissue With an Gene Fusion in an Infant.

机构信息

Department of Pathology and Molecular Pathology, University Hospital Zurich, Zürich, Switzerland.

Department of Oncology, University Children's Hospital Zürich, Zürich, Switzerland.

出版信息

Pediatr Dev Pathol. 2021 Jul-Aug;24(4):371-377. doi: 10.1177/1093526621999020. Epub 2021 Mar 18.

DOI:10.1177/1093526621999020
PMID:33734915
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8278561/
Abstract

Overall, neonatal cancer is uncommon. Because of its rarity and heterogeneity, diagnosis can be challenging. We report a unique case of a myoepithelial carcinoma in a 7 week old girl. Molecular diagnostic workup revealed a gene fusion which was previously described in only six cases of myoepithelial tumors so far. All cases occurred in children and adolescents. To our knowledge, this is the first report of a congenital fusion positive myoepithelial tumor in an infant.

摘要

总体而言，新生儿癌症较为罕见。由于其罕见性和异质性，诊断可能具有挑战性。我们报告了一例 7 周大女婴的肌上皮癌独特病例。分子诊断工作显示存在 基因融合，迄今为止仅在六例肌上皮肿瘤中描述过这种融合。所有病例均发生在儿童和青少年中。据我们所知，这是首例婴儿先天性 融合阳性肌上皮肿瘤的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/260bce6fef4f/10.1177_1093526621999020-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/24fa4a74426e/10.1177_1093526621999020-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/a9afb280fbb0/10.1177_1093526621999020-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/69cd601d488f/10.1177_1093526621999020-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/260bce6fef4f/10.1177_1093526621999020-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/24fa4a74426e/10.1177_1093526621999020-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/a9afb280fbb0/10.1177_1093526621999020-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/69cd601d488f/10.1177_1093526621999020-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f639/8278561/260bce6fef4f/10.1177_1093526621999020-fig4.jpg

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2
A Rare Case of an Intracardiac Myoepithelial Carcinoma in an Infant.婴儿心脏内肌上皮癌1例罕见病例
J Pediatr Hematol Oncol. 2019 May;41(4):e206-e209. doi: 10.1097/MPH.0000000000001343.
3
Malignant Ewing-Like Neoplasm With an EWSR1-KLF15 Fusion: At the Crossroads of a Myoepithelial Carcinoma and a Ewing-Like Sarcoma. A Case Report With Treatment Options.
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Mol Clin Oncol. 2022 Nov 3;17(6):163. doi: 10.3892/mco.2022.2596. eCollection 2022 Dec.
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4
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