Guizard Maylis, Karanian Marie, Dijoud Frédérique, Bouhamama Amine, Faure-Conter Cécile, Hameury Frédéric, Tirode Franck, Corradini Nadège
Department of Pediatric and Adolescent Oncology, Centre Leon Berard, Lyon, France.
Department of Biopathology, Centre Léon Berard, Lyon, France.
Case Rep Oncol. 2019 Aug 8;12(2):631-638. doi: 10.1159/000502227. eCollection 2019 May-Aug.
Neonatal soft tissues sarcoma is a rare entity that comprises heterogeneous types of tumors. In this article we describe a neonatal case of round-cell sarcoma with an YWHAE-NUTM2B fusion gene. The patient was treated just after birth with neoadjuvant chemotherapy, then surgical resection, but evolution was quickly fatal. This fusion transcript has been reported in endometrial stromal sarcomas and clear cells renal sarcomas but its description in small round-cell sarcomas is recent. To our knowledge, this is the first case report describing this translocation in a newborn patient with soft tissues sarcoma and its clinical tumoral evolution.
新生儿软组织肉瘤是一种罕见的疾病，由多种不同类型的肿瘤组成。在本文中，我们描述了一例患有YWHAE-NUTM2B融合基因的新生儿圆形细胞肉瘤病例。该患者出生后即接受新辅助化疗，随后进行手术切除，但病情迅速恶化，最终死亡。这种融合转录本已在子宫内膜间质肉瘤和透明细胞肾肉瘤中报道，但在小圆形细胞肉瘤中的描述是最近才出现的。据我们所知，这是第一例描述这种易位在新生儿软组织肉瘤患者中的病例报告及其临床肿瘤进展情况。
