Department of Pediatrics, Taipei Veterans General Hospital, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.
Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
Pediatr Hematol Oncol. 2021 May;38(4):385-390. doi: 10.1080/08880018.2020.1853859. Epub 2021 Feb 27.
We herein report the case of a girl with PRETEXT III hepatoblastoma (HB) developing recurrent lung metastases despite multiple chemotherapy regimens, aggressive tumor excision, multiple lung metastasectomies, and autologous peripheral blood stem cell transplantation. High tumor mutation burden (TMB) was identified through targeted next-generation sequencing, and pembrolizumab was administered post-operatively as a last resort. A complete and sustained response to the immune checkpoint inhibitor was achieved for 22 months. Although the majority of HB have a low TMB, immune checkpoint inhibitor therapy may be useful for patients with refractory HBs with a high TMB.
我们在此报告了一例 PRETEXT III 型肝母细胞瘤（HB）女孩的病例，尽管接受了多种化疗方案、积极的肿瘤切除、多次肺转移瘤切除术和自体外周血干细胞移植，但仍出现复发性肺转移。通过靶向下一代测序确定了高肿瘤突变负担（TMB），并作为最后手段在术后给予派姆单抗治疗。免疫检查点抑制剂治疗实现了 22 个月的完全和持续缓解。虽然大多数 HB 的 TMB 较低，但免疫检查点抑制剂治疗可能对 TMB 较高的难治性 HBs 患者有用。
