Bhangoo Munveer S, Zhou Jenny Y, Ali Siraj M, Madison Russell, Schrock Alexa B, Costantini Carrie
Division of Hematology Oncology, Scripps Clinic, 10666 N. Torrey Pines Ave, La Jolla, CA, 92037, USA.
Department of Internal Medicine, Scripps Mercy Hospital, San Diego, CA, USA.
BMC Cancer. 2017 Mar 16;17(1):197. doi: 10.1186/s12885-017-3167-y.
Collision tumors are uncommon but well described clinical entities composed of distinct tumor histologies occurring within the same anatomic site. Optimal management of patients with collision tumors remains highly variable and depends on clinical characteristics such as the involved tumor types, predominant histology, as well as the extent of disease. Comprehensive genomic profiling is a means of identifying genomic alterations to suggest benefit from targeted therapy.
A 78-year-old woman presented to medical oncology with liver metastases occurring within the background of a 1-year history of uveal melanoma. Biopsy of the liver metastases revealed presence of adenocarcinoma along with nests of malignant melanoma consistent with a collision tumor. The disease was refractory to several lines of conventional cytotoxic chemotherapy, and the patient later developed pulmonary metastases while on chemotherapy. The patient's tumor tissue was assayed by comprehensive genomic profiling which revealed presence of a TSC1 partial loss. The patient was subsequently initiated on temsirolimus 15 mg intravenously weekly for 4 months. Restaging imaging demonstrated a partial response to therapy by RECIST 1.1 criteria and clinical benefit for 6 months until the patient passed away secondary to unrelated causes.
We report the first case of a collision tumor composed of adenocarcinoma and melanoma with a TSC1 mutation that objectively and durably responded to mTOR inhibition.
碰撞瘤并不常见，但却是已得到充分描述的临床实体，由发生于同一解剖部位的不同肿瘤组织学类型组成。碰撞瘤患者的最佳治疗方案仍存在很大差异，并且取决于诸如所涉及的肿瘤类型、主要组织学类型以及疾病范围等临床特征。综合基因组分析是一种识别基因组改变以提示靶向治疗获益的方法。
一名78岁女性因葡萄膜黑色素瘤病史1年出现肝转移而就诊于医学肿瘤学。肝转移灶活检显示存在腺癌以及与碰撞瘤相符的恶性黑色素瘤巢。该疾病对多线传统细胞毒性化疗均耐药，且患者在化疗期间出现了肺转移。对患者的肿瘤组织进行综合基因组分析，结果显示存在TSC1部分缺失。随后患者开始接受每周15mg静脉注射替西罗莫司治疗，持续4个月。重新分期影像学检查显示，根据RECIST 1.1标准，治疗有部分缓解，且临床获益达6个月，直至患者因无关原因死亡。
我们报告了首例由腺癌和黑色素瘤组成且具有TSC1突变的碰撞瘤，该肿瘤对mTOR抑制有客观且持久的反应。
