Bender Jonathan, Anderson Bailey, Bloom David A, Rabah Raja, McDougall Rhonda, Vats Pankaj, Mody Rajen
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Department of Radiology, University of Michigan, Ann Arbor, Michigan 48109, USA.
Cold Spring Harb Mol Case Stud. 2019 Feb 1;5(1). doi: 10.1101/mcs.a003376. Print 2019 Feb.
Infantile fibrosarcoma (IFS) is a rare soft-tissue sarcoma, which classically presents as an aggressive and rapidly enlarging tumor over the distal extremities of children in their first year of life. The presence of and gene rearrangement is characteristic of IFS, which can be detected on routine fluorescence in situ hybridization (FISH) testing. Patients with IFS typically respond well to surgical resection and chemotherapy and have an overall survival of ∼90%. In this report, we outline the use of integrative clinical sequencing (ICS) including RNA-seq in a patient with refractory, metastatic IFS to reveal an unusual fusion (), not detected by routine FISH testing, which was treated with oral crizotinib and resulted in a complete and durable long-term response. This study highlights the utility of ICS in identifying cryptic gene fusions, especially in refractory malignancies, and demonstrates how such information can be used to select targeted therapies in patients with actionable molecular alterations.
婴儿纤维肉瘤（IFS）是一种罕见的软组织肉瘤，典型表现为1岁以内儿童四肢远端侵袭性且迅速增大的肿瘤。ETV6和NTRK3基因重排是IFS的特征，可通过常规荧光原位杂交（FISH）检测到。IFS患者通常对手术切除和化疗反应良好，总生存率约为90%。在本报告中，我们概述了在一名难治性转移性IFS患者中使用包括RNA测序在内的综合临床测序（ICS），以揭示一种常规FISH检测未发现的异常融合（ETV6-NTRK3），该患者接受口服克唑替尼治疗并产生了完全且持久的长期反应。这项研究强调了ICS在识别隐匿性基因融合方面的效用，尤其是在难治性恶性肿瘤中，并展示了如何利用此类信息为具有可操作分子改变的患者选择靶向治疗。
