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

Pediatr Hematol Oncol. 2023;40(6):587-594. doi: 10.1080/08880018.2022.2154417. Epub 2023 Feb 2.

Abstract

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.

Keywords: BRCA2; Fanconi Anemia; PMS2; familial cancers; synchronous malignancies.

Publication types

  • Case Reports

MeSH terms

  • BRCA2 Protein / genetics
  • Fanconi Anemia* / complications
  • Fanconi Anemia* / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Kidney Neoplasms* / genetics
  • Mismatch Repair Endonuclease PMS2 / genetics
  • Mutation
  • Neoplasms, Multiple Primary* / genetics
  • Phenotype
  • Wilms Tumor* / complications

Substances

  • BRCA2 Protein
  • BRCA2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • PMS2 protein, human