PDF(Pubmed)
Abstract：
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.
摘要：
肺泡软组织肉瘤是一种组织起源不确定的罕见肿瘤，属于新定义的超罕见肉瘤类别。肿瘤的特征是特定的染色体易位，der（17）t（X；17）（p11.2；q25），这导致ASPSCR1-TFE3基因融合。肺泡软组织肉瘤的自然史描述了四肢深层软组织中缓慢进展的惰性行为。青少年和年轻人的躯干和头/颈部。据报道，远处转移的检出率很高，最常见的转移部位以频率递减的顺序是肺，骨头和大脑完整的手术切除仍然是标准的治疗策略，而放疗适用于手术切缘不足或无法切除肿瘤的患者。尽管肺泡软组织肉瘤对传统的多柔比星化疗是难治性的，使用酪氨酸激酶抑制剂和免疫检查点抑制剂的单一疗法或联合疗法提供了抗肿瘤活性,并成为新的治疗策略.本文根据肺泡软组织肉瘤的临床阶段，概述了对这种超罕见肉瘤的当前理解以及治疗方法的最新进展。
