Hicks M John, Roth Jill R, Kozinetz Claudia A, Wang Lisa L
Baylor College of Medicine, Houston, TX 77030, USA.
J Clin Oncol. 2007 Feb 1;25(4):370-5. doi: 10.1200/JCO.2006.08.4558.
Patients with Rothmund-Thomson syndrome (RTS) and RECQL4 gene mutations have an increased risk of developing osteosarcoma (OS). Because RTS is considered a genomic instability syndrome, patients may experience increased toxicity with chemotherapy. The purpose of this study was to summarize the clinical features and response to therapy of OS in patients with RTS. The results of this analysis will help to define treatment guidelines for this complex and rare condition.
An international cohort of patients with RTS and OS was enrolled in an institutional review board-approved study at Baylor College of Medicine (Houston, TX). Medical records were reviewed, and the following information was extracted: clinical features, treatment, pathologic findings, and clinical outcome.
The median age at diagnosis of OS for the 12 patients was 10 years. The most common primary tumor sites were the long bones (femur, tibia); the most frequent histologic subtype was conventional OS. Histologic response to chemotherapy and outcome were similar to other published large series of sporadic OS. Eight patients are alive and disease free; four died as a result of cancer. Five patients required chemotherapy dose modifications, most commonly due to mucositis from doxorubicin.
Our results indicate that patients with RTS and OS are younger, but that their clinical behavior is similar to patients with sporadic OS. Our report suggests that these patients should initially be treated with conventional doses of chemotherapy as prescribed by current protocols; however, cautious and careful clinical observation is warranted to monitor for enhanced doxorubicin sensitivity in patients with RTS.
患有罗思蒙德 - 汤姆森综合征（RTS）且携带RECQL4基因突变的患者发生骨肉瘤（OS）的风险增加。由于RTS被认为是一种基因组不稳定综合征，患者可能对化疗产生更高的毒性反应。本研究的目的是总结RTS患者中OS的临床特征及治疗反应。该分析结果将有助于确定针对这种复杂罕见病症的治疗指南。
一个国际队列的RTS和OS患者被纳入贝勒医学院（德克萨斯州休斯顿）一项经机构审查委员会批准的研究。查阅了医疗记录，并提取了以下信息：临床特征、治疗、病理结果和临床结局。
12例OS患者的诊断中位年龄为10岁。最常见的原发肿瘤部位是长骨（股骨、胫骨）；最常见的组织学亚型是传统型OS。化疗的组织学反应和结局与其他已发表的大量散发性OS系列研究相似。8例患者存活且无疾病；4例因癌症死亡。5例患者需要调整化疗剂量，最常见的原因是阿霉素引起的粘膜炎。
我们的结果表明，RTS和OS患者年龄较小，但其临床行为与散发性OS患者相似。我们的报告表明，这些患者最初应按照当前方案规定的常规剂量进行化疗；然而，有必要进行谨慎仔细的临床观察，以监测RTS患者对阿霉素敏感性的增强情况。
