Osteosarcoma With Apparent Ewing Sarcoma Gene Rearrangement.
Osteosarcoma With Apparent Ewing Sarcoma Gene Rearrangement.
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具有明显尤文肉瘤基因重排的骨肉瘤。
DOI：
10.1097/mph.0000000000000553
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Kentsis,Alex
中科院分区：
文献类型：
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作者：
Mathias,MelissaD;Chou,AlexanderJ;Meyers,Paul;Shukla,Neerav;Hameed,Meera;Agaram,Narasimhan;Wang,Lu;Berger,MichaelF;Walsh,Michael;Kentsis,Alex
Poorly differentiated round cell sarcomas present diagnostic challenges because of their variable morphology and lack of specific immunophenotypic markers. We present a case of a 15-year-old female with a tibial tumor that exhibited features of Ewing-like sarcoma, including apparent rearrangement of the EWSR1 gene. Hybridization capture-based next-generation DNA sequencing showed evidence of complex genomic rearrangements, absence of known pathogenic Ewing-like chromosome translocations, and deletions RB1, PTCH1, and ATRX, supporting the diagnosis of osteosarcoma. This illustrates the potential of clinical genomic profiling to improve diagnosis and enable specifically targeted therapies for cancers with complex pathologies.
