Use of trio whole exome sequence in an adolescent with unexplained splenomegaly: a case report of CBL syndrome

Abstract

CBL syndrome is a diagnosis typically made in childhood, which features neuroectodermal, cardiac and haematological abnormalities due to heterozygous germline CBL mutation. When complicated by additional genetic abnormalities, it confers a risk for JMML (due to CBL uniparental disomy), and in adulthood for MDS and AML (due to acquired copy-neutral loss of heterozygosity of the CBL allele, or additional single nucleotide polymorphisms) 1 and therefore will be encountered by both adult and paediatric haematologists.