Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations
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DOI：
10.1136/jmg.2009.067751
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发表时间：
2010-02-01
影响因子：
4
通讯作者：
Delattre, Olivier
中科院分区：
文献类型：
--
作者：
Brugieres, Laurence;Pierron, Gaelle;Delattre, Olivier
方法和结果在两个3岁以下儿童被诊断为髓母细胞瘤的家庭中发现了生殖系SUFU突变。所有髓母细胞瘤的组织学检查均为促结缔组织增生亚型，包括3例罕见的广泛结节亚型。在这两个家庭中，在SUFU基因中检测到的突变是移码突变。在这两个家庭中确定的25个突变携带者中，有7个发展成神经管细胞瘤。结论本报告突出了SUFU相关肿瘤的三个特点。主要是髓母细胞瘤伴广泛结节或典型促结缔组织增生性/结节性髓母细胞瘤。这些肿瘤大多数（如果不是全部）出现在生命的前3年。变异的遗传是不完全的。
Methods and results Germline SUFU mutations were identified in two families with several children under 3 years of age diagnosed with medulloblastoma. All medulloblastomas in which the histology was reviewed were of the desmoplastic subtype, including three with the rare extensive nodularity subtype. In both families, the mutation detected in the SUFU gene was a frameshift mutation. Among the 25 mutation carriers identified in the two families, seven developed medulloblastomas.Conclusions This report highlights three features of SUFU related tumours. These are mainly medulloblastomas with extensive nodularity or typical desmoplastic/nodular medulloblastomas. These tumours mostly, if not exclusively, appear during the first 3 years of life. The penetrance of the mutation is incomplete.