Chromosomal fragility syndrome and family history of radio sensitivity as indicators for radiotherapy dose modification

Chromosomal fragility syndrome and family history of radio sensitivity as indicators for radiotherapy dose modification
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DOI:
10.1016/s0167-8140(02)00327-4
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发表时间:
2003-03-01
影响因子:
5.7
通讯作者:
Brock, WA
Brock, WA
中科院分区:
医学1区
文献类型:
--
作者:
Alsbeih, G;Story, MD;Brock, WA

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除了一些已知的放射敏感综合征外,病人对放射治疗的反应很难预测。在这个报告中,我们描述了一个儿科癌症患者的管理与放射敏感性和癌症倾向的家族史。实验室调查显示染色体脆性综合征和细胞放射敏感性增加体外。AT基因测序未发现突变。病人接受了减少辐射剂量的治疗,以避免可能增加的对正常组织的毒性风险。患者对治疗耐受良好,无明显的急性或晚期放射后遗症。5年后,患者仍然没有疾病和并发症。虽然对放射敏感性的准确实验室测试仍然缺乏,但对染色体易碎性、细胞存活和临床医学的评估将继续对少数患者有用。(C) 2002爱思唯尔科学爱尔兰有限公司版权所有。
Beside a few known radiosensitive syndromes, a patient's reaction to radiotherapy is difficult to predict. In this report we describe the management of a pediatric cancer patient presented with a family history of radiosensitivity and cancer proneness. Laboratory investigations revealed a chromosomal fragility syndrome and an increased cellular radiosensitivity in vitro. AT gene sequencing revealed no mutations. The patient was treated with reduced radiation doses to avoid the presumed increased risks of toxicity to normal tissues. The patient tolerated well the treatment with no significant acute or late radiation sequelae. Five years later, the patient remains both disease and complications free. While an accurate laboratory test for radiosensitivity is still lacking, assessments of chromosomal fragility, cell survival and clinical medicine will continue to be useful for a small number of patients. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.