Abstract：
Pulmonary epithelioid hemangioendothelioma (PEH) is a rare vascular tumor with no established treatment protocol. The authors report the case of a young woman diagnosed with PEH. DNA and RNA analysis by next-generation sequencing was performed on the tumor tissue. A novel germline PALB2 mutation and classical WWTR1-CAMTA1 fusion were identified. She experienced a poor response to sintilimab (a PD-1 inhibitor) plus platinum-based chemotherapy as the first-line treatment. PEH patients harboring a germline PALB2 mutation and WWTR1-CAMTA1 gene fusion may respond poorly to treatment with PD-1 inhibitors plus chemotherapy.
Pulmonary epithelioid hemangioendothelioma (PEH) is a rare vascular tumor with no established treatment protocol. Although PD-1 inhibitors have dramatically improved the prognosis of some tumors, the efficacy is unknown in PEH patients. The authors report an advanced PEH patient treated with sintilimab plus platinum-based chemotherapy, who died after two cycles of treatment. The authors inferred that PEH patients with a germline PALB2 mutation and WWTR1-CAMTA1 fusion may not benefit from PD-1 inhibitors plus chemotherapy.
Pulmonary epithelioid hemangioendothelioma (PEH) is a rare vascular tumor with no established treatment protocol. Although PD-1 inhibitors have dramatically improved the prognosis of some tumors, the efficacy is unknown in PEH patients. The authors report an advanced PEH patient treated with sintilimab plus platinum-based chemotherapy, who died after two cycles of treatment. The authors inferred that PEH patients with a germline PALB2 mutation and WWTR1-CAMTA1 fusion may not benefit from PD-1 inhibitors plus chemotherapy.
摘要：
肺上皮样血管内皮瘤（PEH）是一种罕见的血管肿瘤，尚无既定的治疗方案。作者报告了一名被诊断患有PEH的年轻女性的病例。通过下一代测序对肿瘤组织进行DNA和RNA分析。鉴定了新的种系PALB2突变和经典的WWTR1-CAMTA1融合。她对Sintilimab（PD-1抑制剂）加基于铂的化疗作为一线治疗的反应不佳。具有种系PALB2突变和WWTR1-CAMTA1基因融合的PEH患者可能对PD-1抑制剂加化疗的治疗反应较差。
肺上皮样血管内皮瘤（PEH）是一种罕见的血管肿瘤，没有确定的治疗方案。尽管PD-1抑制剂显著改善了一些肿瘤的预后,PEH患者的疗效未知。作者报告了一名晚期PEH患者接受sintilimab加铂类化疗治疗，在两个周期的治疗后死亡。作者推断，具有种系PALB2突变和WWTR1-CAMTA1融合的PEH患者可能无法从PD-1抑制剂加化疗中受益。
肺上皮样血管内皮瘤（PEH）是一种罕见的血管肿瘤，没有确定的治疗方案。尽管PD-1抑制剂显著改善了一些肿瘤的预后,PEH患者的疗效未知。作者报告了一名晚期PEH患者接受sintilimab加铂类化疗治疗，在两个周期的治疗后死亡。作者推断，具有种系PALB2突变和WWTR1-CAMTA1融合的PEH患者可能无法从PD-1抑制剂加化疗中受益。
