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Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies
Author(s) -
Walter Andrew W.,
Ennis Sara,
Best Hunter,
Vaughn Cecily P.,
Swensen Jeffrey J.,
Openshaw Amanda,
Gripp Karen W.
Publication year - 2013
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24613
Subject(s) - medicine , childhood cancer , pediatrics , intensive care medicine , cancer
A 13‐year‐old child presented with three simultaneous malignancies: glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the PMS2 gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened: three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the