One of the latest nationwide study, an Italian cohort of 30 patients with GATA2 deficiency, revealed new clinical phenotypes—pilonidal cyst/sacrococcygeal fistula, cholangiocarcinoma, and gastric adenocarcinoma—and show that lymphedema may be associated with null/regulatory GATA2 mutation. The gene discussed is GATA2; the disease is gastric adenocarcinoma.