Congenital leukemia: A case report and review of literature

Table 1 Reported cases of GATA1-related transitory abnormal myelodysplasia and acute megakaryoblastic leukemia in patients with Down syndrome

Case number	Age (yr)	Sex	Clinical symptoms	Signs	Physical examination			Treatment	Outcome	Ref.
					Bone marrow/peripheral blood, Blasts (%)	Cytogenetics	GATA1 mutation
1	1 d	Male	Limp and cyanotic	Dysmorphic features, hepatomegaly	33/45	47, XY, þ21[21]	c.49C>T	Cytarabine	Died of respiratory failure 8 d after birth	Yin et al[21]
2	1 d	Male	Weak with respiratory distress	Dysmorphic features, hepatomegaly	42/95	47, XY, þ21c[19]	c.37G>T	Cytarabine	Died of cardiovascular failure at the age of 8 mo	Yin et al[21]
3	1 d	Male	Purpura and petechiae all over the body	No abnormal signs	12/57	48, XY, + 21, + mar[20]	c.129_148dup20	Intensive chemotherapy	Complete remission for 6 yr	Ono et al[22]
4	18 mo	Male	Pale complexion	Hepatosplenomegaly (liver 3 cm and spleen 8 cm below costal margin)	43/64	47, XY, + 21[14]/46, XY[6]	c.128_220 + 144del237	Intensive chemotherapy and unrelated cord blood transplantation	Died of disease 10 mo after diagnosis	Ono et al[22]
5	2 d	Male	Decreased tone	Dysmorphic features	-/10-15	None	Yes	Untreated	Spontaneous remission	Bombery et al[23]
6	1 d	Female	Mild respiratory distress	Hepatosplenomegaly, phenotypic features of DS	-/8	None	Yes	Cytarabine	CR for more than 23 mo	Moritake et al[24]
7	1 d	Female	Respiratory distress	Hepatosplenomegaly and jaundice	-/86	47, XX, + 21	Yes	None	Died of overwhelming sepsis and hepatic failure at the age of 3 mo	Tsai et al[25]
8	1 d	Male	None	Physical characteristics of Down syndrome	13/22	47, XY, + 21[13]/46, XY[10]	Yes	None	Leukemia free survival (15 mo +)	Tsai et al[25]
9	1 d	Male	Generalized edema	Massive hepatosplenomegaly	-/71	47, XY, + 21	Yes	Symptomatic treatment	Died 1 wk after cardiac surgery at the age of 82 d	Tsai et al[25]