Ortiz Michael V, Magnan Heather, Slotkin Emily K, Ambati Srikanth R, Chou Alexander J, Wexler Leonard H, Meyers Paul A, Walsh Michael F, Heaton Todd, Girardi Leonard N, Wolden Suzanne L, Price Anita P, Kennedy Jennifer A, Zehir Ahmet, Hameed Meera, Berger Michael F, Kentsis Alex, Shukla Neerav
Departments of *Pediatrics †Medicine ‡Surgery ∥Radiation Oncology ¶Radiology #Pathology **Human Oncology and Pathogenesis Program, Molecular Pharmacology Program ††Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center §Department of Cardiothoracic Surgery, Weill Cornell Medicine, New York, NY.
J Pediatr Hematol Oncol. 2017 Nov;39(8):e443-e445. doi: 10.1097/MPH.0000000000000754.
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.
一名16岁男性被诊断为患有伴有肺转移的胸廓尤因肉瘤。在预定治疗结束6个月后，发现他有一个新的心脏内肿块，推测为复发性尤因肉瘤。通过血浆滴液数字聚合酶链反应未检测到EWSR1融合。在挽救性化疗无效后，他接受了手术切除，结果确定为低级别梭形细胞肉瘤。尽管这两种不相关的肉瘤几乎同时出现，但广泛的基因组分析未发现任何统一的体细胞或种系突变，也未发现任何明显的癌症易感性。该病例还凸显了在活检具有高发病率的部位利用血浆游离DNA诊断肿瘤的潜在作用。
