Acute Myeloid Leukemia Fluorescence In Situ Hybridization (FISH) Analysis
FISH, AML, genetic, GAMLP, GAML2, RUNX1T1::RUNX1 [ETO::AML1] fusion for t(8;21), CBFß::MYH11 gene for inv(16)/t(16;16), MLL gene rearrangement for t(11q23;var), PML::RARA for t(15;17), RPN1::MECOM, for inv(3)/t(3;3), BCR::ABL1 t(9;22), NUP98
Limited AML Panel: CBFB::MYH11, p53, PML::RARA, MLL, NUP98 and BCR::ABL1
Expanded AML Panel: CBFB::MYH11, p53, PML::RARA, MLL, NUP98, BCR::ABL1, RUNX1T1::RUNX1, RPN1::MECOM
*Note: The limited AML panel will be the default order unless the expanded panel is designated by the ordering physician
**A verbal STAT APL FISH result, if clinically indicated, will be made available to the ordering physician within 48 hours of specimen receipt for all new APL diagnoses.
Test Codes
Please contact the Cytogenetics Laboratory if assistance with ordering in EPIC is needed.
FISH (no chromosomes): LAB5137, FISH (with chromosomes): LAB5203
Department
Cytogenetics
Specimen Collection Criteria
Collect: Peripheral blood (Minimum: 3.0 mL) or bone marrow aspirate (Minimum: 1.0 mL) in Dark Green-top Sodium Heparin tubes.
A copy of the requisition must be sent with the specimen.
Physician Office/Draw Specimen Preparation
Do not freeze specimen. Maintain specimens at room temperature (20-26°C or 68-78.8°F) prior to courier pickup. For delays in transport (greater than 48 from the time of collection), refrigerate (2-8°C or 36-46°F) the specimen.
Preparation for Courier Transport
Transport: 5-7 mL peripheral blood or 1-2 mL bone marrow, at room temperature (20-26°C or 68-78.8°F) or refrigerated (2-8°C or 36-46°F). (Minimum: 3.0 mL blood or 1.0 mL bone marrow)
Rejection Criteria
Specimens arriving in the Laboratory 3 days or more following the original collection date.
Frozen or fixed specimens.
In-Lab Processing
Specimens are processed immediately upon receipt in the Laboratory.
Storage
Specimen Stability for Testing:
Room Temperature (20-26°C or 68-78.8°F): 48 hours
Refrigerated (2-8°C or 36-46°F): 96 hours
Frozen (-20°C/-4°F or below): Unacceptable
Specimen Storage in Department Prior to Disposal:
Refrigerated (2-8°C or 36-46°F): 7 days. A backup cell pellet is maintained for three weeks after the case has been signed out.
Laboratory
Royal Oak Cytogenetics Laboratory
Performed
Monday – Friday, 8:00 am – 5:00 pm.
Results available within one week of receipt in the Laboratory.
Reference Range
Positive or negative for a neoplastic clone. An interpretative report will be provided.
Test Methodology
Fluorescence In Situ Hybridization (FISH) Analysis.
Interpretation
A positive FISH result indicates the presence of the chromosome abnormality. The presence of RUNX1T1::RUNX1 fusion, CBFß gene rearrangement, PML::RARA fusion, RPN1::MECOM rearrangement, NUP98 rearrangement or MLL gene rearrangement is diagnostic
for their respective WHO AML classifications.
Clinical Utility
Acute myeloid leukemia (AML) is a hematopoietic neoplasm characterized by excessive accumulation of myeloid blasts (>20%) in bone marrow, peripheral blood, and other tissues. The identification of specific cytogenetic abnormalities is diagnostic for specific AML subtypes and can be powerful predictors of prognosis and response to therapy. Overall, cytogenetic abnormalities are identified in approximately 55% of adults at diagnosis, with a range of 50-80%; however, only a subset of these chromosome changes is associated with clinical, morphological, and immunophenotypic specificity for a particular AML subtype. These are included in the WHO classification scheme under AML with recurrent genetic abnormalities and include: AML with t(8;21)(q22;q22); AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); (RPN1/EVI1 [MECOM]); RUNX1T1::RUNX1, AML with inv(16)(p13q22) or t(16;16)(p13;q22);(CBFß::MYH11), acute promyelocytic leukemia [AML with t(15;17)(q22;q12); (PML::RARA) and variants], and AML with 11q23 (MLL) abnormalities. BCR::ABL1 gene rearrangement is evaluated if the AML panel is normal.
The following FISH probes detect myeloid-associated abnormalities and are available:
- RUNX1T1::RUNX1 fusion for t(8;21)
- RPN1/EVI1 (MECOM) fusion with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
- CBFß::MYH11 gene for inv(16)/t(16;16)
- MLL gene rearrangement for t(11q23;var)
- PML::RARA for t(15;17)
- BCR::ABL1 for t(9;22)
- NUP98 gene rearrangement
Guidelines for Cytogenetic/Molecular Follow-Up Testing of Hematopoietic Malignancy
CPT Codes
88271x9, 88275x6, 100-300 cells. (Limited Panel)
88271x13, 88275x8, 100-300 cells. (Expanded Panel)
Contacts
Cytogenetics Laboratory – RO
248-898-9030
Name: Cytogenetics Laboratory – RO
Location:
Phone: 248-898-9030
Last Updated
12/30/2022
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