Urasaki Tetsuya, Ono Makiko, Yamashita Kyoko, Tanizawa Taisuke, Togashi Yuki, Ohmoto Akihiro, Suto Hirotaka, Oki Ryosuke, Wang Xiaofei, Nakao Takehiro, Sato Yasuyoshi, Fukuda Naoki, Nakano Kenji, Tomomatsu Junichi, Saito Masanori, Hayakawa Keiko, Takeuchi Kengo, Matsumoto Seiichi, Ae Keisuke, Takahashi Shunji
Department of Medical Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan.
Department of Pathology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan.
Oncol Lett. 2024 Dec 20;29(3):108. doi: 10.3892/ol.2024.14854. eCollection 2025 Mar.
sarcoma is rare and its clinical features remain unclear. Given the similarity in presentation, it is possible that previously reported cases of Ewing-like adamantinoma may have been sarcoma. The present case report describes a tumor in a 55-year-old man that was originally thought to be a Ewing-like adamantinoma, but was recently found to be an sarcoma following direct sequencing. The patient experienced pain in their left lower leg at 38 years of age. The initial pathological diagnosis was 'epithelioid malignant tumor of the left tibia suggesting Ewing-like adamantinoma'. The patient underwent wide excision of the tumor in their left tibia with left total knee arthroplasty and a medial gastrocnemius muscle flap. Thereafter, the patient continued with no evidence of recurrent or metastatic disease; however, 14 years later, they developed multiple lesions in the left lung, left pleural dissemination, and enlargement of the mediastinal, left hilar and juxtaesophageal lymph nodes. Pathological diagnosis of transbronchial lung biopsy was consistent with 'Ewing-like adamantinoma'. The patient received doxorubicin-based systemic chemotherapy as first-line therapy, which resulted in stable disease. After disease progression, the patient received eribulin monotherapy, which resulted in stable disease for 15 months. Reverse transcription-polymerase chain reaction followed by direct sequencing revealed an in-frame fusion where exon 8 of (ENST00000397938.7) was fused to exon 3 of (ENST00000371564.8), and their diagnosis was changed to sarcoma. The disease progressed, left pleural dissemination progressed, left pleural effusion increased and peritoneal dissemination in the left paracolic gutter was suspected. Therefore, the patient was started on trabectedin monotherapy during 16 months of stable disease, and thereafter received pazopanib after they presented with progressive disease on prior trabectedin monotherapy. It is likely that there are more patients with undiagnosed sarcoma. To make a definitive diagnosis, a thorough investigation should be performed.
肉瘤较为罕见，其临床特征尚不清楚。鉴于临床表现的相似性，先前报道的尤因样釉质瘤病例有可能实际上是肉瘤。本病例报告描述了一名55岁男性的肿瘤，该肿瘤最初被认为是尤因样釉质瘤，但最近经直接测序发现是肉瘤。患者38岁时左小腿出现疼痛。最初的病理诊断为“左胫骨上皮样恶性肿瘤，提示尤因样釉质瘤”。患者接受了左胫骨肿瘤广泛切除术，并行左全膝关节置换术及内侧腓肠肌肌瓣移植。此后，患者未出现复发或转移疾病的迹象；然而，14年后，他们在左肺出现多个病灶、左胸膜播散，纵隔、左肺门和食管旁淋巴结肿大。经支气管肺活检的病理诊断与“尤因样釉质瘤”一致。患者接受了以阿霉素为基础的全身化疗作为一线治疗，病情稳定。疾病进展后，患者接受了艾日布林单药治疗，病情稳定了15个月。逆转录-聚合酶链反应后直接测序显示一个读码框内融合，即（ENST00000397938.7）的第8外显子与（ENST00000371564.8）的第3外显子融合，其诊断改为肉瘤。疾病进展，左胸膜播散进展，左胸腔积液增加，怀疑左结肠旁沟有腹膜播散。因此，患者在病情稳定的16个月期间开始接受曲贝替定单药治疗，之后在先前曲贝替定单药治疗出现疾病进展后接受了帕唑帕尼治疗。很可能存在更多未被诊断的肉瘤患者。为了做出明确诊断，应进行全面检查。
