Table 2.

Key features of TAM and JMML

TAMJMML
Clinical features Diagnosis of trisomy 21 Male to female ratio 2:1 
 Age ≤3 months Most common in early childhood 
 Jaundice and/or HSM are common Splenomegaly in almost all patients 
 Rash and effusions are less frequent Lymphadenopathy and fever are common 
Laboratory findings Leukocytosis Leukocytosis 
 Circulating blasts (higher in blood than BM) Monocytosis (≥1 × 109/L) 
  Blast count <20% in blood and BM 
 Anemia is rare Thrombocytopenia is common 
Genetic features GATA1 mutation Germline mutations/LOH: CBL, NF1 
  Or 
  Somatic mutations: PTPN11, KRAS, NRAS, RRAS 
TAMJMML
Clinical features Diagnosis of trisomy 21 Male to female ratio 2:1 
 Age ≤3 months Most common in early childhood 
 Jaundice and/or HSM are common Splenomegaly in almost all patients 
 Rash and effusions are less frequent Lymphadenopathy and fever are common 
Laboratory findings Leukocytosis Leukocytosis 
 Circulating blasts (higher in blood than BM) Monocytosis (≥1 × 109/L) 
  Blast count <20% in blood and BM 
 Anemia is rare Thrombocytopenia is common 
Genetic features GATA1 mutation Germline mutations/LOH: CBL, NF1 
  Or 
  Somatic mutations: PTPN11, KRAS, NRAS, RRAS 

BM ,  bone marrow; HSM ,  hepatosplenomegaly; JMML ,  juvenile myelomonocytic leukemia; LOH ,  loss of heterozygosity; TAM ,  transient abnormal myelopoiesis.

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