作者
Rita Alaggio, Lei Zhang, Yun-Shao Sung, Shih-Chiang Huang, Chun-Liang Chen, Gianni Bisogno, Angelica Zin, Narasimhan P Agaram, Michael P LaQuaglia, Leonard H Wexler, Cristina R Antonescu
发表日期
2016/2/1
期刊
The American journal of surgical pathology
卷号
40
期号
2
页码范围
224-235
出版商
LWW
简介
Sclerosing rhabdomyosarcoma (ScRMS) and spindle cell rhabdomyosarcoma (SRMS) have been recently reclassified as a stand-alone pathologic entity, separate from embryonal RMS. Genetically, a subset of the congenital cases display NCOA2 gene rearrangements, whereas tumors occurring in older children or adults harbor MYOD1 gene mutations with or without coexisting PIK3CA mutations. Despite these recent advances, a significant number of tumors lack known genetic alterations. In this study we sought to investigate a large group of pediatric SRMS/ScRMS, spanning a diverse clinical and pathologic spectrum, by using a combined fluorescence in situ hybridization, targeted DNA, and whole-transcriptome sequencing methodology for a more definitive molecular classification. A total of 26 SRMS and ScRMS cases were selected from the 2 participating institutions for the molecular analysis. Ten of the 11 …
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