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先天性横纹肌肉瘤出生时表现为颈部肿块。

Congenital Rhabdomyosarcoma Presenting as a Neck Mass at Birth.

作者信息

Waldman Leah E, Williamson Alex K, Amodio John B, Collins Lee

机构信息

Department of Radiology, Lenox Hill Hospital of Northwell Health, 100 E. 77th St., New York, NY 10075, USA.

Department of Pathology, Cohen Children's Medical Center of Northwell Heath, 26901 76th Ave., New Hyde Park, NY 11040, USA.

出版信息

Case Rep Pediatr. 2018 Jul 30;2018:1243436. doi: 10.1155/2018/1243436. eCollection 2018.

Abstract

Rhabdomyosarcoma is a malignant tumor of the soft tissues which preferentially affects the pediatric population. Neonatal rhabdomyosarcoma is rare, and much of the published literature concerning this entity consists of isolated case reports and small case series. Recent work involving the classification of rhabdomyosarcoma has helped to delineate prognostic information based on gene rearrangements. Here, we present a case of congenital rhabdomyosarcoma seen in utero which manifested as a neck mass at birth and was found to harbor a favorable gene fusion.

摘要

横纹肌肉瘤是一种软组织恶性肿瘤,主要影响儿童群体。新生儿横纹肌肉瘤较为罕见,关于该实体的已发表文献大多是孤立的病例报告和小病例系列。最近有关横纹肌肉瘤分类的研究有助于根据基因重排来描绘预后信息。在此,我们报告一例先天性横纹肌肉瘤病例,该病例在子宫内被发现,出生时表现为颈部肿块,且发现含有一种预后良好的基因融合。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c17/6091335/293fcedad402/CRIPE2018-1243436.001.jpg

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