Department of Medicine, University of Minnesota, 420 Delaware St SE, Minneapolis, MN, 55455, USA.
Department of Laboratory Medicine and Pathology, University of Minnesota, 420 Delaware St SE, Minneapolis, MN, 55455, USA.
BMC Med Genomics. 2021 Aug 31;14(1):213. doi: 10.1186/s12920-021-01064-0.
Chordoma is a rare bone tumor that is typically resistant to chemotherapy and is associated with genetic abnormalities of the T-box transcription factor T (TBXT) gene, which encodes the transcription factor brachyury. Brachyury is felt to be a major contributor to the development of chordomas.
We describe a 67-year-old woman who developed an undifferentiated pleomorphic sarcoma in her thigh. Despite treatment with standard chemotherapy regimens, she had a rapidly progressive course of disease with pulmonary metastases and passed away 8 months from diagnosis with pulmonary complications. Her medical history was remarkable in that she had a spheno-occipital chordoma at age 39 and later developed multiple other tumors throughout her life including Hodgkin lymphoma and squamous cell carcinoma and basal cell carcinoma of the skin. She had a family history of chordoma and her family underwent extensive genetic study in the past and were found to have a duplication of the TBXT gene.
Brachyury has been found to associate with tumor progression, treatment resistance, and metastasis in various epithelial cancers, and it might play roles in tumorigenesis and aggressiveness in this patient with multiple rare tumors and germ line duplication of the TBXT gene. Targeting this molecule may be useful for some malignancies.
软骨肉瘤是一种罕见的骨肿瘤，通常对化疗具有耐药性，并与 T 盒转录因子 T（TBXT）基因的遗传异常相关，该基因编码转录因子 brachyury。Brachyury 被认为是软骨肉瘤发展的主要贡献者。
我们描述了一位 67 岁女性，她的大腿发生了未分化多形性肉瘤。尽管接受了标准的化疗方案治疗，但她的疾病仍迅速进展，出现肺部转移，并在诊断后 8 个月因肺部并发症去世。她的病史很显著，她在 39 岁时患有蝶枕部脊索瘤，后来在她的一生中还发生了多种其他肿瘤，包括霍奇金淋巴瘤、鳞状细胞癌和基底细胞癌。她有家族性脊索瘤病史，她的家人过去曾进行过广泛的基因研究，发现 TBXT 基因存在重复。
Brachyury 已被发现与多种上皮癌的肿瘤进展、治疗耐药和转移相关，它可能在这位患有多种罕见肿瘤和 TBXT 基因种系重复的患者的肿瘤发生和侵袭性中发挥作用。靶向该分子可能对某些恶性肿瘤有用。
