A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene
A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene
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DOI：
10.1007/s10147-007-0692-8
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发表时间：
2008-02-01
影响因子：
3.3
通讯作者：
Kawaguchi, Noriyoshi
中科院分区：
文献类型：
--
作者：
Izawa, Naohiro;Matsumoto, Seiichi;Kawaguchi, Noriyoshi
我们描述了一个病人谁有九个原发性恶性肿瘤和p53肿瘤抑制基因的种系突变，典型的发现在李-Fraumeni综合征（LFS）。一名15岁的女孩，没有癌症家族史，因右膝疼痛和肿胀被转诊到我院。诊断为骨肉瘤。患者接受化疗后接受手术，病情缓解。28岁以后先后发生9例原发恶性肿瘤，包括右乳腺癌、结肠癌、腹壁恶性纤维组织细胞瘤（MFH）、右肺双癌、双侧乳腺癌和左大腿MFH。这是LFS中报告的第二高类型的原发性恶性肿瘤。所有肿瘤均采用包括手术在内的多学科方法进行治疗。遗传分析显示p53基因中的种系错义突变（c. 659 A > G），导致Y220 C，这已经在三个LFS家族中报道。患者死于MFH肺转移，享年37岁。尽管有多个肿瘤，反复诱导缓解导致长期生存。我们的研究结果表明，包括手术在内的多学科治疗方法对LFS患者有益。
We describe a patient who had nine primary malignant tumors and a germline mutation in the p53 tumor-suppressor gene, characteristically found in the Li-Fraumeni syndrome (LFS). A 15-year-old girl with no family history of cancer was referred to our hospital because of pain and swelling of the right knee. Osteosarcoma was diagnosed. The patient received chemotherapy followed by surgery and had a remission. After the age of 28 years, nine primary malignant tumors developed successively, including right breast cancer, colon cancer, malignant fibrous histiocytoma (MFH) of the abdominal wall, right lung double cancers, bilateral breast cancers, and MFH of the left thigh. This is the second highest number of types of primary malignant tumors to be reported in LFS. All tumors were treated by a multidisciplinary approach, including surgery. Genetic analysis revealed a germline missense mutation in the p53 gene (c. 659 A > G), resulting in Y220C, which has been reported in three families with LFS. The patient died of lung metastasis from MFH at the age of 37 years. Despite the multiple tumors, repeated induction of remissions resulted in long survival. Our findings suggest that a multidisciplinary approach to treatment, including surgery, is beneficial in patients with LFS.