Diagnostic tool AML


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1. are recurrent genetic abnormalities present ?
  • t(8;21)(q22;q22.1);RUNX1-RUNX1T1
  • inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
  • t(15;17)(q22;q12);PML-RARA
  • t(9;11)(p21.3;q23.3):KMT2A-MLLT3
  • t(6;9)(p23;q34.1);DEK-NUP214
  • inv(3)(q21.326.2) or t(3;3)(q(21.3;q26.2); GATA2, MECOM
  • t(1;22)(p13.3;q13.3); RBM15-MKL1
  • mutated NPM1
  • biallelic mutations of CEBPA
     provisional entities:
  • BCR-ABL1
  • mutated RUNX1
AML with recurrent genetic abnormalities
2. are myelodysplasia-related changes present ?
  • previous history of MDS
  • or
  • MDS-related cytogenetic abnormality *
  • or
  • dysplastic morphologic features in 50% or more of cells in 2 or more cell lines
  • absence of the specific cytogenetic abnormalities of AML with recurrent genetic abnormalities
  • absence of prior history of therapy
AML with myelodysplasia related changes
3. history of prior cytotoxic or radiation therapy for an unrelated disease
  • as a complication of cytotoxic chemotherapy and/or radiation therapy for a prior non-hematological neoplasm
  • excluded from this category are transformation of MPN since it is often not possible to determine if this is disease evolution or therapy related
therapy related AML
4. none of the above
AML, not otherwise specified

AML with minimal differentiation
AML without maturation
AML with maturation
Acute myelomonocytic leukemia
Acute monoblastic/monocytic leukemia
Pure erythroid leukemia #
Acute megakaryoblastic leukemia
Acute basophilic leukemia
Acute panmyelosis with myelofibrosis

* MDS-related cytogenetic abnormality are:
  • Complex karyotype (3 or more abnormalities)
  • • Unbalanced abnormalities
  • -7/del(7q)
  • del(5q)/t(5q)
  • i(17q)/t(17p)
  • -13/del(13q)
  • del(11q)
  • del(12p)/t(12p)
  • idic(X)(q13)
  • • Balanced abnormalities
  • t(11;16)(q23.3;p13.3)
  • t(3;21)(q26.2;q22.1)
  • t(1;3)(p36.3;q21.2)
  • t(2;11)(p21;q23.3)
  • t(5;12)(q32;p13.2)
  • t(5;7)(q32;q11.2)
  • t(5;17)(q32;p13.2)
  • t(5;10)(q32;q21.2)
  • t(3;5)(q25.3;q35.1)
  # for definition of pure erythroid leukemia see also PB and BM finding of MDS