A Rare Association of Beckwith Wiedemann Syndrome with PH Positive Precursor B Cell Acute Lymphoblastic Leukaemia

Beckwith Wiedemann Syndrome (BWS) is a genetic overgrowth syndrome with complex molecular heterogeneity and a variable phenotypic spectrum. Macrosomia, anterior abdominal wall defects and macroglossia are its characteristic features. BWS is known for its propensity to develop malignancies, most commonly, solid organ tumours. There is a paucity of literature regarding the association of BWS with Acute Lymphoblastic Leukemia (ALL). To our knowledge, this is the first case report of BWS associated with Philadelphia chromosome positive (ph+) ALL. A 10 year boy with BWS was diagnosed with ph+ ALL. After a thorough review of literature, we found 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. This case report will elaborate on the possibilities of association of BWS and ALL due to abnormal genomic imprinting and IGF dysregulation.