Lymphoblastic Leukemia/Lymphoma (ALL)

B-Lymphoblastic
T-Lymphoblastic

Adult

Should perform testing for:

• t(9;22)(q34;q11.2); BCR-ABL1

May perform testing for:

  • KMT2A (MLL) rearrangement
  • Mutational analysis that includes (but is not limited to) PAX5, JAK1, JAK2, and/or IKZF1
  • CRLF2 over-expression by flow cytometry
Strong Recommendation
Recommendation

Pediatric

Should perform testing for:

  • t(12;21)(p13;q22); ETV6-RUNX1
  • t(9;22)(q34;q11.2); BCR-ABL1
  • KMT2A (MLL) rearrangement
  • iAMP21
  • Trisomy 4 and 10

May perform:

  • Mutational analysis that includes (but is not limited to) PAX5, JAK1, JAK2, and/or IKZF1
  • CRLF2 over- expression by flow cytometry
Strong Recommendation
Recommendation

Flow cytometry panel should include sufficient markers to identify early T-cell precursor (ETP)

May perform:

Mutational analysis for NOTCH1 and/or FBXW7

Strong Recommendation
Recommendation

Acute Myeloid Leukemia (AML)

Should perform:

FLT3-ITD mutation

May perform:

Mutational analysis that includes (but is not limited to): IDH1, IDH2, TET2, WT1, DNMT3A, and/or TP53

Strong Recommendation
Recommendation
If acute promyelocytic leukemia (APL) is suspected

Should perform:

▪ Rapid detection of PML-RARA
▪ Coagulation studies to evaluate for DIC

Strong Recommendation
Core Binding Factor (CBF) AML

t(8;21)(q22;q22.1); RUNX1-RUNX1T1 or inv16(p13.1q22)/ t(16;16)(p13.1;q22); CBFB-MYH11

Adult

Should perform:

KIT mutation

Pediatric

May perform:

KIT mutation

Strong Recommendation
Expert Consensus Opinion
AML other than CBF, APL or AML with myelodysplasia- related cytogenetic abnormalities

Should perform:

Mutational analysis for NPM1, CEBPA and RUNX1

Strong Recommendation

Mixed Phenotype Acute Leukemia (MPAL)

Should perform testing for:

  • t(9;22)(q34;q11.2); BCR-ABL1
  • KMT2A (MLL) rearrangement
Strong Recommendation

Initial Diagnostic Workup of Acute Leukemia

ALL
AML
MPAL

For all patients with suspected leukemia:

  • Relevant clinical data
  • Complete blood count and leukocyte differential
  • Peripheral blood smear
  • Bone marrow aspiration with core biopsy
  • Extramedullary tissue biopsy (if applicable)
  • Morphologic evaluation
  • Flow cytometry immunophenotyping
  • Conventional cytogenetic analysis
  • Appropriate molecular genetic and/or FISH studies

If a CSF sample is collected at the time of intrathecal therapy or for other clinical indications, should perform:

  • CSF cell count
  • Pathologist review of a cytocentrifuge preparation with enumeration of blasts

May perform: CSF flow cytometry

Should use the current WHO terminology for the final diagnosis and classification of acute leukemia.

Strong Recommendation
Recommendation