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Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.

Hamad Mohammed AlghanimMohamed EltawelAbdulmajeed Ibrahim AlhaidariMuhannad Mohammed AlobaidAreej Mofareh MoghairiFahad SufianiNaveed Ahmad
Published in: Pediatric hematology and oncology (2023)
Hereditary cancer predisposition accounts for more than 10% of all cancers in pediatric age group and this is increasingly recognized as an important entity because of modern sequencing techniques. We report a rare association of two concurrent cancer predisposition syndromes, BRCA2 and PMS2, in a young child who presented with concurrent malignancies including Wilms tumor, myelodysplastic syndrome and an indeterminate brain lesion who succumbed to his disease. Multiple synchronous malignancies present difficult clinical and psycho-social challenges which need to be carefully addressed in the setting of a multi-disciplinary team approach.
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