Zhang Qing, Ju Yongzhi, You Xia, Sun Tingting, Ding Yi
Department of Orthopaedic Oncology, Beijing Ji Shui Tan Hospital, Peking University, Beijing, China.
The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.
Front Oncol. 2022 Aug 10;12:966020. doi: 10.3389/fonc.2022.966020. eCollection 2022.
Dermatofibrosarcoma protuberans (DFSP) is a kind of soft tissue sarcoma, mostly occurs in the trunk, followed by proximal extremities and head and neck. Surgical resection is the most important treatment for DFSP, but the local recurrence rate of DFSP is high. Except reported specific chromosomal tran7slocations occurred in DFSP, the association between DNA repair gene mutations and DFSP still unknown. In this report we found a 19-year-old boy with DFSP carries a novel heterozygous germline mutation, which belongs to the nucleotide excision repair (NER) pathway and genetic defects in may contribute to the cancer susceptibility xeroderma pigmentosum (XP), Cocaine syndrome (CS), and trichothiodystrophy (TTD). Different mutations of the gene can lead to diverse diseases, but there are no targeted therapies. In summary, our results enlarged the mutation spectrum of the DFSP patients. It also provides new insights into genetic counseling and targeted therapeutic strategies for patients with DFSP.
隆突性皮肤纤维肉瘤（DFSP）是一种软组织肉瘤，多发生于躯干，其次为四肢近端及头颈部。手术切除是DFSP最重要的治疗方法，但DFSP的局部复发率较高。除了报道的DFSP中发生的特定染色体易位外，DNA修复基因突变与DFSP之间的关联仍不清楚。在本报告中，我们发现一名19岁患有DFSP的男孩携带一种新的杂合种系突变，该突变属于核苷酸切除修复（NER）途径，其基因缺陷可能导致癌症易感性着色性干皮病（XP）、可卡因综合征（CS）和毛发硫营养不良（TTD）。该基因的不同突变可导致多种疾病，但目前尚无靶向治疗方法。总之，我们的结果扩大了DFSP患者的突变谱。它还为DFSP患者的遗传咨询和靶向治疗策略提供了新的见解。
