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Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-05-17 , DOI: 10.1002/mgg3.1302
Jussi-Pekka Tolonen 1 , Anne Hekkala 1 , Outi Kuismin 2 , Hannu Tuominen 3 , Maria Suo-Palosaari 4, 5, 6 , Olli Tynninen 7 , Riitta Niinimäki 1
Affiliation  

Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MBSHH, MBWNT, MBGroup 3, and MBGroup 4, representing the second most common type of pediatric brain cancer after high‐grade gliomas. They suffer from a high prevalence of genetic predisposition with up to 20% of MBSHH caused by germline mutations in only six genes. However, the spectrum of germline mutations in MBSHH remains incomplete.

中文翻译:

髓母细胞瘤,大头畸形和致病性生殖系PTEN变异:原因还是巧合?

髓母细胞瘤(MBs)是儿童脑瘤的异质性组,具有四个共有亚组,即MB SHH,MB WNT,MB Group 3和MB Group 4,代表了仅次于高级神经胶质瘤的第二种最常见的小儿脑癌类型。他们的遗传易感性患病率很高,只有六个基因的种系突变导致高达20%的MB SHH。但是,MB SHH中的种系突变谱仍然不完整。
更新日期:2020-05-17
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