Classification & Risk Stratification Prediction
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If the case disease is Acute Myeloid Leukemia or a subtype, Classification & Risk Stratification Prediction is provided on the .
The report interpretation summary can be generated from the prediction results by clicking Report.
All variants described below must pass secondary analysis filters (VCF Filter = PASS).
Any of the following:
If the above is met, the classification is predicted to be APL with PML::RARA fusion.
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.
Any of the following:
If the above is met, the classification is predicted to be AML with RUNX1::RUNX1T1 fusion.
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then Favorable.
Any of the following:
If the above is met, the classification is predicted to be AML with CBFB::MYH11 fusion.
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then Favorable.
Any of the following:
If the above is met, the classification is predicted to be AML with DEK::NUP214 fusion.
Adverse
Any of the following:
If the above is met, the classification is predicted to be AML with RBM15::MRTFA fusion.
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.
Any of the following:
If the above is met, the classification is predicted to be AML with BCR::ABL1 fusion.
Adverse
If the above is met, the classification is predicted to be AML with KMT2A rearrangement.
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then continue below.
Any of the following:
If the above is met, the risk stratification is predicted to be Intermediate. If not, then Adverse.
Any of the following:
If the above is met, the classification is predicted to be AML with MECOM rearragement.
Adverse
Any of the following:
If the above is met, the classification is predicted to be AML with NUP98 rearrangement.
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.
Small variant
If the above is met, the classification is predicted to be AML with NPM1 mutation.
Any of the following:
Small variant
Somatic origin (origin = somatic or unknown)
Oncogenic or likely oncogenic (as indicated by a knowledge base biological classification or oncogenicity prediction)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then continue below.
If the above is met, the risk stratification is predicted to be Intermediate. If not, then Favorable.
None of the classifications above should be met.
Any of the following:
Small variant
Small variant
Located in the bZIP domain
The guideline requires biallelic mutations, whereas the evaluation simply checks for 2 due to lack of cis/trans information.
If the above is met, the classification is predicted to be AML with CEBPA mutation.
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then continue below.
Small variant
In-frame (not a frameshift variant)
If the above is met, the risk stratification is predicted to be Favorable. If not, then Intermediate.
None of the classifications above should be met.
Any of the following:
If the above is met, the classification is predicted to be AML with other defined genetic alterations.
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
If the above is met, the risk stratification is predicted to be Adverse. If not, then continue below.
Any of the following:
If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.
None of the classifications above should be met.
Any of the following:
Both of the following:
Small variant
Small variant
Small variant
Small variant
Small variant
Small variant
Small variant
Small variant
If the above is met, the classification is predicted to be AML, myelodysplasia-related.
Any of the following:
Small variant
Somatic origin (origin = somatic or unknown)
VAF ≥ 0.10 (10%)
Small variant
Small variant
Small variant
Small variant
Small variant
Small variant
Small variant
Small variant
If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.
According to WHO/ISCN: ≥ 3 abnormalities, where abnormalities are counted as follows:
Only clonal abnormalities are counted; abnormalities present in only 1 metaphase are ignored.
Numerical gains and losses, simple and complex balanced translocations, unbalanced aberrations involving one chromosome, as well as multiplication of a complete chromosome set are counted as one abnormality.
Unbalanced aberrations involving two or more chromosomes, tetrasomy of same chromosome, triplication or quadruplication, as well as isoderivative chromosomes, are counted as 2 abnormalities.
Constitutional abnormalities are not counted.
In case of multiple clones (subclones or independent clones), chromosome abnormalities in each clone/subclone are counted separately and the number of chromosomal abnormalities is defined by the clone with the highest abnormalities.
For composite karyotypes, clonal chromosomal aberrations are counted in metaphases with the highest number of abnormalities.
According to ELN: Presence of two or more distinct monosomies (excluding loss of X or Y), or one single autosomal monosomy in combination with at least one structural chromosome abnormality.
Classification and risk stratification predictions are based on and acute myeloid leukemia guidelines, respectively, focusing on Acute myeloid leukemia with defining genetic abnormalities.
Select a box to review how the evaluation was performed. For more information, refer to below.
% ≥ 10
= No
Detection of PML::RARA fusion in the
Detection of t(15;17)(q24;q21) in the
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
% ≥ 10
= No
Detection of RUNX1::RUNX1T1 fusion in the
Detection of t(8;21)(q21.3;q22.1) in the
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
% ≥ 10
= No
Detection of CBFB::MYH11 fusion in the
Detection of inv(16)(p13.1q22.1) in the
Detection of t(16;16)(p13.1;q22.1) in the
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
% ≥ 10
= No
Detection of DEK::NUP214 fusion in the
Detection of t(6;9)(p22.3;q34.1) in the
% ≥ 10
= No
Detection of RBM15::MRTFA fusion in the
Detection of t(1;22)(p13.3;q13.1) in the
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
% ≥ 20
= No
Detection of BCR::ABL1 fusion in the
Detection of t(9;22)(q34.1;q11.2) in the
% ≥ 10
= No
Detection of KMT2A structural variant in the
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of MLLT3::KMT2A in the
Detection of t(9;11)(p21.3;q23.3) in the
Detection of KMT2A partial tandem duplication in the
% ≥ 10
= No
Detection of MECOM structural variant in the
Detection of inv(3)(q21.3q26.2) in the
Detection of t(3;3)(q21;q26) in the
Detection of t(3;21)(q26.2;q22) in the
Detection of t(3;12)(q26.2;p13) in the
% ≥ 10
= No
Detection of NUP98 structural variant in the
Detection of t(5;11)(q35.2;p15.4) in the
Detection of t(11;12)(p15.4;p13.3) in the
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
% ≥ 10
= No
Detection of NPM1 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of TP53 variant in the with the following characteristics:
Detection of DEK::NUP214 fusion in the
Detection of t(6;9)(p22.3;q34.1) in the
Detection of KMT2A structural variant without MLLT3 fusion partner in the
Detection of BCR::ABL1 fusion in the
Detection of t(9;22)(q34.1;q11.2) in the
Detection of KAT6A::CREBBP fusion in the
Detection of t(8;16)(p11.2;p13.3) in the
Detection of MECOM structural variant in the
Detection of inv(3)(q21.3q26.2) in the
Detection of t(3;3)(q21;q26) in the
Detection of t(3;21)(q26.2;q22) in the
Detection of t(3;12)(q26.2;p13) in the
Detection of monosomy 5 in the or
Detection of 5q deletion in the , or with length ≥ 5 Mbp
Detection of monosomy 7 in the or
Detection of monosomy 17 in the or
Detection of 17p deletion in the , or with length ≥ 5 Mbp
Detection of in the or
Detection of in the or
Detection of FLT3 internal tandem duplication in the
% ≥ 20
= No
Detection of 2 CEBPA variants in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of CEBPA variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of CEBPA variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
% ≥ 20
= No
Detection of CBFA2T3::GLIS2 fusion in the
Detection of inv(16)(p13q24) in the
Detection of KAT6A::CREBBP fusion in the
Detection of t(8;16)(p11.2;p13.3) in the
Detection of FUS::ERG fusion in the
Detection of t(16;21)(p11;q22) in the
Detection of MNX1::ETV6 fusion in the
Detection of t(7;12)(q36;p13) in the
Detection of NPM1::MLF1 fusion in the
Detection of t(3;5)(q25;q35) in the
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of KAT6A::CREBBP fusion in the
Detection of t(8;16)(p11.2;p13.3) in the
% ≥ 20
= No
= Yes
= Yes
= Yes
Detection of in the or
Detection of 5q deletion in the , or with length ≥ 5 Mbp
Detection of monosomy 7 in the or
Detection of 11q deletion in the , or with length ≥ 5 Mbp
Detection of 12p deletion in the , or with length ≥ 5 Mbp
Detection of monosomy 13 in the or
Detection of 17p deletion in the , or with length ≥ 5 Mbp
Detection of isochromosome 17q in the
Detection of idic(X)(q13) in the
Detection of ASXL1 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of BCOR variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of EZH2 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of SF3B1 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of SRSF2 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of STAG2 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of U2AF1 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of ZRSR2 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of TP53 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of monosomy 5 in the or
Detection of 5q deletion in the , or with length ≥ 5 Mbp
Detection of monosomy 7 in the or
Detection of monosomy 17 in the or
Detection of 17p deletion in the , or with length ≥ 5 Mbp
Detection of in the or
Detection of in the or
Detection of ASXL1 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of BCOR variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of EZH2 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of SF3B1 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of SRSF2 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of STAG2 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of U2AF1 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
Detection of ZRSR2 variant in the with the following characteristics:
Oncogenic or likely oncogenic (as indicated by a knowledge base or )
