Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation

作者：Abadie C^*; Bernard F; Netchine I; Sanlaville D; Roque A; Rossignol S; Coupier I

来源：European Journal of Medical Genetics, 2010, 53(6): 400-403.

DOI：10.1016/j.ejmg.2010.08.006

• Beckwith-Wiedemann syndrome
• CDKN1C
• T-type acute lymphoblastic leukaemia

Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth syndrome associated with an increased risk in childhood tumours. The phenotypic variability in BWS reflects its molecular heterogeneity. This syndrome is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes in the 11p15.5 region. The most commonly reported tumours in this syndrome are tumours of embryologic origin such as Wilms tumours, hepatoblastomas, neuroblastomas, rhabdomyosarcomas and adrenocortical carcinomas.
We report the case of a 10-year-old patient diagnosed with BWS, harbouring a CDKN1C ((p)57(KIP2)) mutation, who developed a T-type acute lymphoblastic leukaemia.
To our knowledge it is the first report of an acute lymphoblastic leukaemia of T-type in a child with BWS. We discuss the possibility of a link between BWS and leukaemia via one of the few known negative regulator of hematopoiesis, the transforming growth factor beta pathway, depending upon the up-regulation of CDKN1C.

• 出版日期2010-12