Test ID: AMLF    
Acute Myeloid Leukemia (AML), FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with acute myeloid leukemia or other myeloid malignancies

Evaluating specimens in which standard cytogenetic analysis is unsuccessful

Identifying and tracking known chromosome abnormalities in patients with myeloid malignancies and tracking response to therapy

This test includes a charge for application of the first probe set (2 fluorescence in situ hybridization: FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

The following algorithms are available in Special Instructions:

-Acute Leukemias of Ambiguous Lineage Testing Algorithm

-Acute Myeloid Leukemia: Testing Algorithm

-Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up

For diagnostic samples, all probes in the initial panel will be performed. The initial panel includes testing for the following abnormalities using the probes listed:

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

11q23 rearrangement, [M0-M7], MLL (KMT2A)

inv(16), [M4, Eos], MYH11/CBFB

Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities:

t(6;9), [M2,M4], DEK/NUP214

inv(3) or t(3;3), [M1,2,4,6,7], RPN1/MECOM

t(8;16), [M4,M5], MYST3/CREBBP

t(1;22), [M7], RBM15/MKL1*

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

17p-, TP53/D17Z1

t(9;22), BCR/ABL1

 *The RBM15/MKL1 probe set will only be used to test patients with a suspected or confirmed diagnosis of M7 or to confirm a t(1;22) identified by chromosome analysis.

-When a MLL (KMT2A) rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of t(4;11)(q21;q23) AFF1/MLL, t(6;11)(q27;q23) MLLT4/MLL, t(9;11)(p22;q23) MLLT3/MLL, t(10;11)(p13;q23) MLLT10/MLL, t(11;16)(q23;p13.3) MLL/CREBBP, t(11;19)(q23;p13.1) MLL/ELL, or t(11;19)(q23;p13.3) MLL/MLLT1.

-When 3 copies of MECOM are observed with no fusion with RPN1, reflex testing using the MECOM/RUNX1 probe set will be performed to identify a potential t(3;21)(q26.2;q22) rearrangement.

-When 3 copies of RPN1 are observed with no fusion with MECOM, reflex testing using the PRDM16/RPN1 probe set will be performed to identify a potential t(1;3)(p36;q21).

-When 3 copies of RARA are observed with no fusion with PML, reflex testing using the 5'RARA/3'RARA rearrangement probe set will be performed to identify a potential variant translocation involving RARA; example: t(17;var)( q21;?).

-In the absence of BCR/ABL1 fusion, when an extra signal for ABL1 is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement.

If the patient is being treated for known abnormalities, indicate which probes should be used.

If this test is ordered and the laboratory is informed that the patient is on a Children's Oncology Group (COG) protocol, this test will be canceled and automatically reordered by the laboratory as COGMF / Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies.

• Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up
• Acute Leukemias of Ambiguous Lineage Testing Algorithm
• Acute Myeloid Leukemia: Testing Algorithm

Fluorescence In Situ Hybridization (FISH)