BACKGROUND Acute leukemia in newborns is also known as neonatal or congenital leukemia(CL)and is a rare disease with an incidence rate of 1-5 per 1000000 live births.After birth,infants with CL exhibit infiltrative cu...BACKGROUND Acute leukemia in newborns is also known as neonatal or congenital leukemia(CL)and is a rare disease with an incidence rate of 1-5 per 1000000 live births.After birth,infants with CL exhibit infiltrative cutaneous nodules,hepatosplenomegaly,thrombocytopenia,and immature leukocytes in the peripheral blood.These symptoms are frequently accompanied by congenital abnormalities including trisomy 21,trisomy 9,trisomy 13,or Turner syndrome.Despite significant advances in disease management,the survival rate is approximately 25%at 2 years.CASE SUMMARY Here,we document a case of trisomy 21-related acute myeloid leukemia(AML)in a female neonate.The baby was sent to the neonatal intensive care unit because of anorexia,poor responsiveness,and respiratory distress.She was diagnosed with AML based on bone marrow aspiration and immunophenotyping.Genetic sequencing identified a mutation in the GATA1 gene.After receiving the diagnosis,the parents decided against medical care for their child,and the baby died at home on day 9 after birth.CONCLUSIONS The newborn infant was diagnosed with trisomy 21-related AML.Genetic sequencing identified a mutation in the GATA1 gene.The parents abandoned medical treatment for their infant after receiving the diagnosis,and the infant died at home on the 9th day after birth.展开更多
基金Supported by Project of Regional Science Foundation of National Natural Science Foundation,No.82060033Project of Scientific and Technological Innovation Talent Team in Guizhou Province,No.CXTD[2021]002.
文摘BACKGROUND Acute leukemia in newborns is also known as neonatal or congenital leukemia(CL)and is a rare disease with an incidence rate of 1-5 per 1000000 live births.After birth,infants with CL exhibit infiltrative cutaneous nodules,hepatosplenomegaly,thrombocytopenia,and immature leukocytes in the peripheral blood.These symptoms are frequently accompanied by congenital abnormalities including trisomy 21,trisomy 9,trisomy 13,or Turner syndrome.Despite significant advances in disease management,the survival rate is approximately 25%at 2 years.CASE SUMMARY Here,we document a case of trisomy 21-related acute myeloid leukemia(AML)in a female neonate.The baby was sent to the neonatal intensive care unit because of anorexia,poor responsiveness,and respiratory distress.She was diagnosed with AML based on bone marrow aspiration and immunophenotyping.Genetic sequencing identified a mutation in the GATA1 gene.After receiving the diagnosis,the parents decided against medical care for their child,and the baby died at home on day 9 after birth.CONCLUSIONS The newborn infant was diagnosed with trisomy 21-related AML.Genetic sequencing identified a mutation in the GATA1 gene.The parents abandoned medical treatment for their infant after receiving the diagnosis,and the infant died at home on the 9th day after birth.
