Intracardiac Low-grade Sarcoma Following Treatment for Ewing Sarcoma.
Intracardiac Low-grade Sarcoma Following Treatment for Ewing Sarcoma.
复制标题
尤文肉瘤治疗后的心内低度肉瘤。
DOI：
10.1097/mph.0000000000000754
复制
发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Hameed
中科院分区：
文献类型：
--
作者：
Ortiz,MichaelV;Magnan,Heather;Slotkin,EmilyK;Ambati,SrikanthR;Chou,AlexanderJ;Wexler,LeonardH;Meyers,PaulA;Walsh,MichaelF;Heaton,Todd;Girardi,LeonardN;Wolden,SuzanneL;Price,AnitaP;Kennedy,JenniferA;Zehir,Ahmet;Hameed
一名16岁的男性被诊断为尤文肉瘤的胸腔肺转移。在完成预定治疗后6个月，发现他有一个新的心内肿块，推测为复发性尤文肉瘤。EWSR 1融合基因在血浆中未被微滴聚合酶链反应检测到。在补救化疗没有改善后，他接受了手术切除，确定了一个低级别的梭形细胞肉瘤。尽管两个不相关的肉瘤几乎同步出现，但广泛的基因组分析并未发现任何统一的体细胞或生殖系突变，也未发现任何明显的癌症易感性。该病例还强调了利用血浆游离DNA在活检赋予高发病率的位置诊断肿瘤的潜在作用。
A 16-year-old male was diagnosed with Ewing sarcoma of the ribcage with pulmonary metastases. Six months after completion of scheduled therapy, he was found to have a new intracardiac mass, presumed recurrent Ewing sarcoma. EWSR1 fusion was not detected by droplet digital polymerase chain reaction from blood plasma. After no improvement with salvage chemotherapy, he underwent surgical resection that identified a low-grade spindle cell sarcoma. Despite the near-synchronous presentation of 2 unrelated sarcomas, extensive genomic analyses did not reveal any unifying somatic or germline mutations nor any apparent cancer predisposition. This case also highlights the potential role of utilizing plasma cell-free DNA for diagnosing tumors in locations where biopsy confers high morbidity.