Silva Jorge Galvez, Corrales-Medina Fernando F, Maher Ossama M, Tannir Nizar, Huh Winston W, Rytting Michael E, Subbiah Vivek
Division of Pediatrics, The University of Texas MD Anderson Children's Cancer Hospital, Houston, TX.
Division of Pediatric Hematology-Oncology, Department of Pediatrics, University of Miami-Miller School of Medicine, Miami, FL.
Oncoscience. 2015 Feb 20;2(2):187-92. doi: 10.18632/oncoscience.131. eCollection 2015.
Pediatric malignancies in adults, in contrast to the same diseases in children are clinically more aggressive, resistant to chemotherapeutics, and carry a higher risk of relapse. Molecular profiling of tumor sample using next generation sequencing (NGS) has recently become clinically available. We report the results of targeted exome sequencing of six adult patients with pediatric-type malignancies : Wilms tumor(n=2), medulloblastoma(n=2), Ewing's sarcoma( n=1) and desmoplastic small round cell tumor (n=1) with a median age of 28.8 years. Detection of druggable somatic aberrations in tumors is feasible. However, identification of actionable target therapies in these rare adult patients with pediatric-type malignancies is challenging. Continuous efforts to establish a rare disease registry are warranted.
与儿童的相同疾病相比，成人的儿科恶性肿瘤在临床上更具侵袭性，对化疗药物耐药，且复发风险更高。使用下一代测序（NGS）对肿瘤样本进行分子谱分析最近已在临床上可用。我们报告了6例患有儿科类型恶性肿瘤的成年患者的靶向外显子组测序结果：肾母细胞瘤（n = 2）、髓母细胞瘤（n = 2）、尤因肉瘤（n = 1）和促纤维增生性小圆细胞瘤（n = 1），中位年龄为28.8岁。检测肿瘤中可靶向治疗的体细胞畸变是可行的。然而，在这些患有儿科类型恶性肿瘤的罕见成年患者中确定可采取行动的靶向治疗具有挑战性。有必要持续努力建立罕见病登记处。
