Curiously, 2 of 3 germline (p.R38H) cases acquired a PAX5 (p.R140L) mutation (125) which is in keeping with somatic p.R38H and p.R140L mutations co-occurring in a biallelic fashion in 10/11 B-ALL patients harboring a p.R140L mutation (125). The gene discussed is PAX5; the disease is acute lymphoblastic leukemia.