Abstract

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.

摘要

我们在本文中报道了尽管进行了多种化疗方案，积极的肿瘤切除，多次肺转移和自体外周血干细胞移植的女孩，但患有PRETEXT III肝母细胞瘤（HB）的女孩发生复发性肺转移的情况。通过靶向的下一代测序确定了高肿瘤突变负担（TMB），并且在手术后作为最后手段使用了pembrolizumab。在22个月内，对免疫检查点抑制剂产生了完整而持续的反应。尽管大多数HB的TMB较低，但免疫检查点抑制剂疗法可能对TMB较高的难治性HBs患者有用。