Department of Orthopaedic Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
Department of Pathology, Okayama University Hospital, Okayama, Japan.
Jpn J Clin Oncol. 2023 Nov 5;53(11):1009-1018. doi: 10.1093/jjco/hyad102.
Alveolar soft part sarcoma is a rare neoplasm of uncertain histogenesis that belongs to a newly defined category of ultra-rare sarcomas. The neoplasm is characterized by a specific chromosomal translocation, der (17) t(X; 17)(p11.2;q25), that results in ASPSCR1-TFE3 gene fusion. The natural history of alveolar soft part sarcoma describes indolent behaviour with slow progression in deep soft tissues of the extremities, trunk and head/neck in adolescents and young adults. A high rate of detection of distant metastasis at presentation has been reported, and the most common metastatic sites in decreasing order of frequency are the lung, bone and brain. Complete surgical resection remains the standard treatment strategy, whereas radiotherapy is indicated for patients with inadequate surgical margins or unresectable tumours. Although alveolar soft part sarcoma is refractory to conventional doxorubicin-based chemotherapy, monotherapy or combination therapy using tyrosine kinase inhibitors and immune checkpoint inhibitors have provided antitumor activity and emerged as new treatment strategies. This article provides an overview of the current understanding of this ultra-rare sarcoma and recent advancements in treatments according to the clinical stage of alveolar soft part sarcoma.
腺泡状软组织肉瘤是一种罕见的、组织来源不明的肿瘤,属于一种新定义的超罕见肉瘤类别。该肿瘤的特征是一种特定的染色体易位,即 der(17)t(X;17)(p11.2;q25),导致 ASPSCR1-TFE3 基因融合。腺泡状软组织肉瘤的自然病史描述为青少年和年轻成年人四肢、躯干和头颈部深部软组织的惰性行为,进展缓慢。据报道,在发病时已检测到远处转移的高发生率,且最常见的转移部位依次为肺、骨和脑。完全手术切除仍然是标准的治疗策略,而对于手术切缘不足或不可切除的肿瘤,放疗是指征。虽然腺泡状软组织肉瘤对常规多柔比星为基础的化疗具有耐药性,但使用酪氨酸激酶抑制剂和免疫检查点抑制剂的单药或联合治疗已提供抗肿瘤活性,并成为新的治疗策略。本文根据腺泡状软组织肉瘤的临床分期,概述了对这种超罕见肉瘤的最新认识和治疗进展。