Amioka Toshiki, Okayasu Kaori, Iwanaga Shoko, Yamamoto Mio, Tosaka Mizuho, Ishikawa Toshihisa, Kawasaki Tsutomu, Shimoyama Takehiko, Kumagai Jiro
Yokohama City Minato Red Cross Hospital, Respiratory Medicine, Yokohama, Kanagawa, Japan.
Hiratsuka Kyosai Hospital, Respiratory Medicine, Hiratsuka, Kanagawa, Japan.
Thorac Cancer. 2025 Sep;16(17):e70160. doi: 10.1111/1759-7714.70160.
Chest wall sarcomas are rare and may exhibit aggressive behavior, posing diagnostic challenges-particularly in young adults. Although multidisciplinary treatments involving chemotherapy, radiotherapy, and surgery are recommended, prognosis remains poor. We report a case of a 43-year-old man referred with left-sided chest pain, dyspnea, and massive pleural effusion. Cytological analysis of the effusion and biopsy revealed small, round, atypical cells, and initial immunohistochemistry suggested Ewing sarcoma. During workup, the patient's symptoms worsened, tumor lysis syndrome developed, and he died on hospital day 28. Autopsy and extended immunohistochemical testing indicated small round cell sarcoma. Molecular analysis identified an echinoderm microtubule-associated protein-like 4 (EML4)-anaplastic lymphoma kinase (ALK) fusion gene. The final diagnosis was small round cell sarcoma with EML4-ALK fusion originating from the thoracic wall. This case highlights the importance of early presentation and timely diagnosis using next generation sequencing to facilitate targeted therapy for ALK-rearranged chest wall sarcomas and improve patient outcomes.
胸壁肉瘤较为罕见，可能具有侵袭性，这给诊断带来了挑战，尤其是在年轻成年人中。尽管推荐采用包括化疗、放疗和手术在内的多学科治疗，但预后仍然很差。我们报告了一例43岁男性患者，因左侧胸痛、呼吸困难和大量胸腔积液前来就诊。对胸腔积液的细胞学分析和活检显示有小的、圆形的、非典型细胞，初步免疫组化提示为尤因肉瘤。在检查过程中，患者症状恶化，出现肿瘤溶解综合征，并于住院第28天死亡。尸检和扩展免疫组化检测显示为小圆细胞肉瘤。分子分析鉴定出一种棘皮动物微管相关蛋白样4（EML4）-间变性淋巴瘤激酶（ALK）融合基因。最终诊断为起源于胸壁的伴有EML4-ALK融合的小圆细胞肉瘤。该病例强调了早期就诊和使用下一代测序进行及时诊断的重要性，以便为ALK重排的胸壁肉瘤提供靶向治疗并改善患者预后。
