Classification & Risk Stratification Prediction

Overview

If the case disease is Acute Myeloid Leukemia or a subtype, Classification & Risk Stratification Prediction is provided on the .

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.

Reporting

The report interpretation summary can be generated from the prediction results by clicking Report.

Decision Trees

APL with PML::RARA fusion

Classification

• % ≥ 10

• = No

• Any of the following:

If the above is met, the classification is predicted to be APL with PML::RARA fusion.

Risk Stratification

• Detection of TP53 variant in the with the following characteristics:

  • VCF filter = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.

AML with RUNX1::RUNX1T1 fusion

Classification

• % ≥ 10

• = No

• Any of the following:

If the above is met, the classification is predicted to be AML with RUNX1::RUNX1T1 fusion.

Risk Stratification

• Detection of TP53 variant in the with the following characteristics:

  • VCF filter = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Adverse. If not, then Favorable.

AML with CBFB::MYH11 fusion

Classification

• % ≥ 10

• = No

• Any of the following:

If the above is met, the classification is predicted to be AML with CBFB::MYH11 fusion.

Risk Stratification

• Detection of TP53 variant in the with the following characteristics:

  • VCF filter = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Adverse. If not, then Favorable.

AML with DEK::NUP214 fusion

Classification

• % ≥ 10

• = No

• Any of the following:

If the above is met, the classification is predicted to be AML with DEK::NUP214 fusion.

Risk Stratification

Adverse

AML with RBM15::MRTFA fusion

Classification

• % ≥ 10

• = No

• Any of the following:

If the above is met, the classification is predicted to be AML with RBM15::MRTFA fusion.

Risk Stratification

• Detection of TP53 variant in the with the following characteristics:

  • VCF filter = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.

AML with BCR::ABL1 fusion

Classification

• % ≥ 20

• = No

• Any of the following:

If the above is met, the classification is predicted to be AML with BCR::ABL1 fusion.

Risk Stratification

Adverse

AML with KMT2A rearrangement

Classification

• % ≥ 10

• = No

• Detection of KMT2A structural variant with VCF filter = PASS in the

If the above is met, the classification is predicted to be AML with KMT2A rearrangement.

Risk Stratification

• Detection of TP53 variant in the with the following characteristics:

  • VCF filter = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Adverse. If not, then continue below.

• Any of the following:

  • Detection of MLLT3::KMT2A / KMT2A::MLLT3 with VCF filter = PASS in the

  • Detection of t(9;11)(p21.3;q23.3) in the

If the above is met, the risk stratification is predicted to be Intermediate. If not, then Adverse.

AML with MECOM rearrangement

Classification

• % ≥ 10

• = No

• Any of the following:

If the above is met, the classification is predicted to be AML with MECOM rearragement.

Risk Stratification

Adverse

AML with NUP98 rearrangement

Classification

• % ≥ 10

• = No

• Any of the following:

If the above is met, the classification is predicted to be AML with NUP98 rearrangement.

Risk Stratification

• Detection of TP53 variant in the with the following characteristics:

  • VCF filter = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.

AML with NPM1 mutation

Classification

• % ≥ 10

• = No

• Detection of NPM1 variant in the with the following characteristics:

If the above is met, the classification is predicted to be AML with NPM1 mutation.

Risk Stratification

• Any of the following:

  • Detection of TP53 variant in the with the following characteristics:

    • VCF filter = PASS

If the above is met, the risk stratification is predicted to be Adverse. If not, then continue below.

• Detection of FLT3 internal tandem duplication with ≥ 2 allele depth or split reads and paired reads in the

If the above is met, the risk stratification is predicted to be Intermediate. If not, then Favorable.

AML with CEBPA mutation

Classification

• None of the classifications above should be met.

• % ≥ 20

• = No

If the above is met, the classification is predicted to be AML with CEBPA mutation.

Risk Stratification

• Detection of TP53 variant in the with the following characteristics:

  • VCF filters = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Adverse. If not, then continue below.

• Detection of CEBPA variant in the with the following characteristics:

  • VCF filters = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Favorable. If not, then Intermediate.

AML with other defined genetic alterations

Classification

• None of the classifications above should be met.

• % ≥ 20

• = No

If the above is met, the classification is predicted to be AML with other defined genetic alterations.

Risk Stratification

• Detection of TP53 variant in the with the following characteristics:

  • VCF filters = PASS

  • Small variant

If the above is met, the risk stratification is predicted to be Adverse. If not, then continue below.

• Any of the following:

  • Detection of KAT6A::CREBBP fusion with ≥ 2 split reads and paired reads in the

  • Detection of t(8;16)(p11.2;p13.3) in the

If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.

AML, myelodysplasia-related

Classification

• None of the classifications above should be met.

• % ≥ 20

• = No

If the above is met, the classification is predicted to be AML, myelodysplasia-related.

Risk Stratification

Any of the following:

• Detection of TP53 variant in the with the following characteristics:

  • Small variant

  • Somatic origin (origin = somatic or unknown)

If the above is met, the risk stratification is predicted to be Adverse. If not, then Intermediate.

Definitions

Complex Karyotype

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.

We consider the following when counting abnormalities:

• Recurrent SVs

• One CNV ≥ 5 Mbp per chromosome arm

Monosomal Karyotype

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 (excluding core-binding factor AML).