Key features of TAM and JMML
. | TAM . | JMML . |
---|---|---|
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 |
. | TAM . | JMML . |
---|---|---|
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.