罗思蒙德-汤姆森综合征与骨肉瘤

Rothmund-Thomson syndrome and osteosarcoma.

作者信息

Judge M R, Kilby A, Harper J I

机构信息

Department of Dermatology, Hospital for Sick Children, London, U.K.

出版信息

Br J Dermatol. 1993 Dec;129(6):723-5. doi: 10.1111/j.1365-2133.1993.tb03340.x.

DOI:10.1111/j.1365-2133.1993.tb03340.x

PMID:8286259

Abstract

A 10-year-old girl with Rothmund-Thomson syndrome developed a fibular osteosarcoma. Standard chemotherapy produced intolerable toxicity, necessitating a modification of therapy. Initial DNA repair studies on skin fibroblasts were abnormal, but repeat studies failed to reproduce the defects.

摘要

一名患有罗思蒙德-汤姆森综合征的10岁女孩患上了腓骨骨肉瘤。标准化疗产生了无法耐受的毒性，因此有必要调整治疗方案。最初对皮肤成纤维细胞进行的DNA修复研究结果异常，但重复研究未能重现这些缺陷。