While MDS/AML is the most common neoplasm in GATA2 deficiency, the EWOG-MDS study [49], which included 426 patients, found that GATA2 germline mutations were present in up to 7% of all pediatric cases with primary MDS and 15% of advanced MDS in examined series [49,78,79]. Here, GATA2 is linked to hyperinsulinemic hypoglycemia, familial, 4.