Testa Stefano, Million Lynn, Longacre Teri, Bui Nam
Department of Medicine, Stanford University School of Medicine, Palo Alto, California, USA.
Department of Radiation Oncology, Stanford University Medical Center, Stanford, California, USA.
Case Rep Oncol. 2021 Jun 11;14(2):812-819. doi: 10.1159/000516758. eCollection 2021 May-Aug.
Uterine leiomyosarcoma (LMS) is a rare malignant neoplasm of the female genital tract poorly responsive to conventional chemotherapy and radiotherapy, with an overall poor prognosis. Pazopanib is at the moment the only FDA-approved targeted molecular therapy for uterine LMS, given the exceedingly rare occurrence of actionable genetic mutations in this type of cancer. Here, we describe the first reported case of metastatic uterine LMS with an FN1-anaplastic lymphoma kinase (ALK) fusion mutation occurring in a 63-year-old woman with a history of uterine leiomyomas. The patient progressed on several lines of therapy, including conventional chemotherapy, pazopanib, and the first-generation ALK inhibitor crizotinib. Interestingly, the patient showed a remarkable 16-month response to second generation ALK inhibitors alectinib and lorlatinib. This case demonstrates that ALK inhibitors can be an effective therapeutic strategy for patients with ALK fusion-positive uterine LMS that has progressed on conventional chemotherapy.
子宫平滑肌肉瘤（LMS）是女性生殖道罕见的恶性肿瘤，对传统化疗和放疗反应不佳，总体预后较差。鉴于这种癌症中可操作基因突变极为罕见，帕唑帕尼目前是唯一获得美国食品药品监督管理局（FDA）批准用于子宫LMS的靶向分子疗法。在此，我们报告首例转移性子宫LMS病例，该病例发生在一名有子宫平滑肌瘤病史的63岁女性身上，存在纤连蛋白1（FN1）-间变性淋巴瘤激酶（ALK）融合突变。该患者在接受包括传统化疗、帕唑帕尼和第一代ALK抑制剂克唑替尼在内的多线治疗后病情进展。有趣的是，该患者对第二代ALK抑制剂阿来替尼和劳拉替尼表现出长达16个月的显著反应。本病例表明，对于在传统化疗后病情进展的ALK融合阳性子宫LMS患者，ALK抑制剂可能是一种有效的治疗策略。
