Korean J Med > Volume 97(5); 2022 > Article |
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Monocytic markers include CD14, CD4, CD64, CD11b, CD11c, CD36 and lysozyme. Megakaryocytic markers include CD41 and CD61.
Erythroid markers include glycophorin, hemoglobin A, CD71 and E-cadherin.
WHO, World Health Organization; AML-RGA, acute myeloid leukemia with recurrent genetic abnormalities; AML-MRC, acute myeloid leukemia with myelodysplasia-related changes; t-AML, therapy-related acute myeloid leukemia; AML-NOS, acute myeloid leukemia not otherwise specified; biCEBPA, biallelic mutation of CEBPA; BM; bone marrow; APMF, acute panmyelosis with myelofibrosis; TAM, transient abnormal myelopoiesis.
Category | Subtype | Additional cytogenetic abnormalities | Mutations |
---|---|---|---|
AML-RGA | AML with t(8;21) | Overall > 70%; -X, -Y, del(5q) | KIT (20-30%), N/KRAS (30% of children, 10-20% of adults), ASXL1 (10% of adults) |
AML with inv(16) | +22 (10-15%), +8 (10-15%), del(7q) (~5%), +21 (~5%) | KIT (e8 and e17, 30-40%), NRAS (45%), KRAS (13%), FLT3 (14%) | |
AML with PML-RARA | Overall 40%; +8 (10-15%) | FLT3 (ITD and TKD, 30-40%) | |
AML with t(9;11)a | +8 | KRAS (15%), NRAS (14%), FLT3-TKD (8%) | |
AML with t(6;9) | CK | FLT3-ITD (69% of children, 78% of adults) | |
AML with inv(3)b | -7 (>50%), del(5q), CK | NRAS (27%), SF3B1 (27%), PTPN11 (20%), GATA2 (15%), RUNX1 (12%), FLT3 (13%), KRAS (11%), NF1 (9%), CBL (7%) | |
AML with t(1;22) | |||
AML with BCR-ABL1c | -7, +8, CK | RUNX1 (38%) | |
AML with mutated NPM1d | Overall 5-15%; +8, del(9q) | DNMT3A (43%), FLT3-ITD (41%), RAS pathway (30%), TET2 (23%), IDH2 (21%). IDH1 (18%), FLT3-TKD (10%) | |
AML with biCEBPAe | del(9q), del(11q) | TET2 (~40%), WT1 (~30%), GATA2 (15-35%), FLT3 (30%), NRAS (20%), CSF3R (10-20%) | |
AML with mutated RUNX1f | +8, +13, -7, del(7q) | SRSF2 (25%), FLT3-ITD (24%), ASXL1 (20%), DNMT3A (19%), KMT2A-PTD (17%), IDH2 (13%), IDH1 (10%) | |
AML-MRCg | CK, -7/del(7q), del(5q)/t(5q), i(17q)/t(17p), -13/del(13q), del(11q), del(12p)/t(12p), idic(X)(q13), t(11;16), t(3;21), t(1;3), t(2;11), t(5;12), t(5;7), t(5;17), t(5;10), t(3;5) | ASXL1 (25%), U2AF1 (18%), NRAS (18%), TP53 (17%), SRSF2 (12%), | |
t-AMLh | del(5q), -7/del(7q), CK in 70% of patients; t(v;11q23) in 20~30% of patients | TP53 (23-37%), DNMT3A (8-27%), RUNX1 (11-16%), SRSF2 (8-11%), TET2 (6-14%), NRAS (10-13%), FLT3 (8-16%), KRAS (11%) | |
AML-NOS | M0 | CK | RUNX1 (27%), FLT3 (16-22%) |
M1 | |||
M2 | |||
M4 | +8 | ||
M5 | t(8;16)(p11.2;p13.3)i | ||
M6 | CK | ||
M7 | i(12p)j | ||
Acute basophilic leukemia | t(X;6)(p11.2;q23.3)k, t(3;6)(q21;p21), 12p abnormalities | ||
APMF | CK | ||
Down syndrome | TAM | GATA1 | |
Myeloid leukemia | +8 (13-44%) | GATA1 |
WHO, World Health Organization; AML-RGA, acute myeloid leukemia with recurrent genetic abnormalities; AML-MRC, acute myeloid leukemia with myelodysplasia-related changes; t-AML, therapy-related acute myeloid leukemia; AML-NOS, acute myeloid leukemia not otherwise specified; biCEBPA, biallelic mutation of CEBPA; APMF, acute panmyelosis with myelofibrosis; TAM, transient abnormal myelopoiesis; CK, complex karyotype; ITD, internal tandem duplication; TKD, tyrosine kinase domain; PTD, partial tandem duplication.
For the co-mutation pattern, see reference 27a, 28b, 29c, 30d, 31e, 32f, 33g, and 34h, respectively.