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The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome
Author(s) -
Sweeney Kieron J.,
Mottolese Carmine,
Belot Alexandre,
Szathmari Alexandru,
Frappaz Didier,
Lesca Gaetan,
Putoux Audrey,
Di Rocco Federico
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61180
Subject(s) - medulloblastoma , germline , carcinogenesis , germline mutation , malignancy , mutation , gene , genetics , cancer research , gene mutation , biology
DNMT3A codes for a DNA methyl transferase enzyme that plays a central role embryogenesis. Somatic mutations in this gene have been associated with tumorigenesis and are associated with a number of cancers. The recently described Tatton‐Brown–Rahman syndrome (TBRS) is due to heterozygous germline mutations in the DNMT3A gene. So far, only one case of hematological malignancy associated with TBRS have been reported. Here, we describe the first case presenting with TBRS and medulloblastoma. We also discuss the associations between mutations in DNMT3A found in TBRS, AML, and medulloblastoma.