期刊
FRONTIERS IN ONCOLOGY
卷 12, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fonc.2022.954879
关键词
lynch syndrome; PMS2; CNS; oligodendroglioma; IDH-mutant and 1p; 19q-codeleted
类别
资金
- NIH Intramural Research Program
- Lasker Clinical Research Scholar Program
- NCI-CONNECT program
Most tumors, including brain tumors, occur sporadically. However, there is a small subset of central nervous system tumors that are associated with Lynch Syndrome. This report presents a rare case of an oligodendroglioma with a PMS2 mutation associated with Lynch Syndrome. The limited literature on germline PMS2 mutations and oligodendrogliomas highlights the importance of genetic testing in neuro-oncology.
Most tumors, including brain tumors, are sporadic. However, a small subset of CNS tumors are associated with hereditary cancer conditions like Lynch Syndrome (LS). Here, we present a case of an oligodendroglioma, IDH-mutant and 1p/19q-codeleted, and LS with a germline pathogenic PMS2 mutation. To our knowledge, this has only been reported in a few cases in the literature. While the family history is less typical of LS, previous studies have indicated the absence of a significant family history in patient cohorts with PMS2 mutations due to its low penetrance. Notably, only a handful of studies have worked on characterizing PMS2 mutations in LS, and even fewer have looked at these mutations in the context of brain tumor development. This report aims to add to the limited literature on germline PMS2 mutations and oligodendrogliomas. It highlights the importance of genetic testing in neuro-oncology.
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