Furthermore, pivotal hematopoietic genes are reportedly mutated at the constitutional level in patients with T-ALL; recently, we reported a novel variant in PIK3R1 in a patient with Short syndrome and TAL/LMO2 T-ALL, suggesting that this might be a novel locus resulting in predisposition to T-ALL [64]. Here, PIK3R1 is linked to acute lymphoblastic leukemia.