PDF(Pubmed)
Abstract：
BACKGROUND: NTRK (neurotrophic tyrosine receptor kinase)-rearranged spindle cell neoplasms are a new group of tumors included in the new 5th edition of the World Health Organization (WHO) classification of soft Tissue and Bone Sarcomas. These tumors are characterized by NTRK gene fusions and show a wide spectrum of histologies and clinical behavior. Several targeted therapies have recently been approved for tumors harboring NTRK fusions, including STS.
METHODS: A 26-year-old male with advanced, pretreated NTRK rearranged spindle cell neoplasm and liver, lung and bone metastases was treated with larotrectinib on a continuous 28-day schedule, at a dose of 100 mg twice daily. An 18FDG-PET/CT scan performed after 7 days of treatment showed tumor shrinkage in both visceral and bone lesions. There was no drug-related toxicity. Subsequent evaluations confirmed continued tumor regression in disease sites. The patient is well and continues treatment.
CONCLUSIONS: The clinical and radiological response of our patient with an uncommon TPM4 (exon 7)-NTRK1 (exon 12) gene fusion tumor treated with a first-generation TRK inhibitor could contribute to a better understanding of the biology of this new STS entity and help to improve patient management.
METHODS: A 26-year-old male with advanced, pretreated NTRK rearranged spindle cell neoplasm and liver, lung and bone metastases was treated with larotrectinib on a continuous 28-day schedule, at a dose of 100 mg twice daily. An 18FDG-PET/CT scan performed after 7 days of treatment showed tumor shrinkage in both visceral and bone lesions. There was no drug-related toxicity. Subsequent evaluations confirmed continued tumor regression in disease sites. The patient is well and continues treatment.
CONCLUSIONS: The clinical and radiological response of our patient with an uncommon TPM4 (exon 7)-NTRK1 (exon 12) gene fusion tumor treated with a first-generation TRK inhibitor could contribute to a better understanding of the biology of this new STS entity and help to improve patient management.
摘要：
背景：NTRK（神经营养性酪氨酸受体激酶）重排的梭形细胞肿瘤是一组新的肿瘤，包括在新的第5版世界卫生组织（WHO）软组织和骨肉瘤分类中。这些肿瘤的特征在于NTRK基因融合,并显示广谱的组织学和临床行为。一些靶向疗法最近已被批准用于携带NTRK融合的肿瘤。包括STS。
方法：一名26岁男性，预处理的NTRK重排梭形细胞肿瘤和肝脏，肺和骨转移用拉罗列替尼连续28天治疗，剂量为100毫克，每天两次。治疗7天后进行的18FDG-PET/CT扫描显示内脏和骨病变中的肿瘤缩小。没有药物相关的毒性。随后的评估证实了疾病部位的肿瘤持续消退。患者情况良好，继续治疗。
结论：使用第一代TRK抑制剂治疗的罕见TPM4（外显子7）-NTRK1（外显子12）基因融合肿瘤患者的临床和放射学反应可能有助于更好地了解这种新STS实体的生物学特性，并有助于改善患者管理。
方法：一名26岁男性，预处理的NTRK重排梭形细胞肿瘤和肝脏，肺和骨转移用拉罗列替尼连续28天治疗，剂量为100毫克，每天两次。治疗7天后进行的18FDG-PET/CT扫描显示内脏和骨病变中的肿瘤缩小。没有药物相关的毒性。随后的评估证实了疾病部位的肿瘤持续消退。患者情况良好，继续治疗。
结论：使用第一代TRK抑制剂治疗的罕见TPM4（外显子7）-NTRK1（外显子12）基因融合肿瘤患者的临床和放射学反应可能有助于更好地了解这种新STS实体的生物学特性，并有助于改善患者管理。
