Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations
Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations
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DOI：
10.1097/00005072-199811000-00009
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发表时间：
1998-11-01
影响因子：
3.2
通讯作者：
Ohgaki, H
中科院分区：
文献类型：
--
作者：
Vital, A;Bringuier, PP;Ohgaki, H
生殖系p53突变增加了乳腺癌、软组织和骨肉瘤、脑肿瘤、白血病和肾上腺皮质癌的发生风险。脑肿瘤通常是星形胶质细胞谱系，发生在40%的受影响的家庭。本报告介绍了来自法国2个家族的临床、神经病理学和分子遗传学数据，这些家族在密码子248处具有相同的p53种系突变（CGG->TGG; Arg->Trp）和CNS肿瘤集群。每个家族中最年轻的患者发展为恶性脉络丛肿瘤，而两个家族中的几个年轻人死于低级别星形细胞瘤、间变性星形细胞瘤或胶质母细胞瘤。唯一的非神经肿瘤是一名4岁男孩的肾上腺皮质癌，2年后出现间变性脉络丛乳头状瘤。在2例先前报道的遗传性脉络丛肿瘤中，1例发生在一个家族中，该家族也携带248密码子的种系突变。这种不寻常的CNS肿瘤模式是否是由于这种特定的p53突变的器官特异性效应，或者它是否反映了受影响家族的遗传背景，还有待证实。
Germline p53 mutations carry an increased risk of development of breast cancer, soft tissue and osteosarcomas, brain tumors, leukemia and adrenocortical carcinomas. Cerebral neoplasms are usually of astrocytic lineage and occur in 40% of affected families. This report presents clinical, neuropathological and molecular genetic data from 2 families in France with an identical p53 germline mutation in codon 248 (CGG->TGG; Arg->Trp) and a clustering of CNS tumors. The youngest patient in each family developed a malignant choroid plexus tumor while several young adults of both kindred succumbed to low-grade astrocytoma, anaplastic astrocytoma or glioblastoma. The only non-neural neoplasm was an adrenocortical carcinoma in a boy aged 4 years who developed an anaplastic choroid plexus papilloma 2 years later. Of 2 previously reported inherited choroid plexus tumors, 1 occurred in a family which also carried a germline mutation in codon 248. It remains to be shown whether this unusual pattern of CNS tumors is due to an organ-specific effect of this particular p53 mutation or whether it reflects the genetic background of the affected families.