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FISH, AML Targeted Panel
Test Code13730
CPT Codes
88271 (x12), 88275 (x6)
Includes
If results are not possible from the submitted specimen, the test order will be cancelled and replaced by non-orderable test Cytogenetics Communication.
Note: STAT handling for PML-RARA component is available only by request. Please include a note STAT for PML-RARA, MD contact name, and phone number to receive preliminary STAT results.
Note: STAT handling for PML-RARA component is available only by request. Please include a note STAT for PML-RARA, MD contact name, and phone number to receive preliminary STAT results.
Preferred Specimen
5 mL whole blood or 3 mL bone marrow collected in a sodium heparin (green-top) tube
Minimum Volume
3 mL whole blood • 1 mL bone marrow
Other Acceptable Specimens
EDTA (lavender-top) tube
Instructions
Clinical history and reason for referral are required with test order. Prior therapy and bone marrow transplant history should be provided with test order.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: Preferred
Refrigerated: Acceptable
Frozen: Unacceptable
Refrigerated: Acceptable
Frozen: Unacceptable
Methodology
Fluorescence in situ Hybridization (FISH)
Setup Schedule
Set up: Daily; Report available: 7 days
Reference Range
See Laboratory Report
Clinical Significance
The Acute Myeloid Leukemia (AML) targeted FISH panel provide rapid detection of key WHO defining cytogenetic abnormalities that confirm diagnosis and disease classification, guide immediate and long-term therapy, and contribute to prognostication in patients with or suspected of having AML. The panel complements conventional cytogenetics and molecular testing and covers the following genomic alterations: t(8;21)(RUNX1::RUNX1T1), inv(16)/ t(16;16)(CBFB::MYH11), t(15;17)(PML::RARA), t(9;22)(BCR:: ABL1),11q23(KMT2A) rearrangements, and 17p13 (TP53) deletion. The results of this assay help distinguish AML subtypes (e.g., Acute Promyelocytic Leukemia, core-binding factor AML, AML with KMT2A rearrangement) from other myeloid neoplasms and support WHO classification when morphology and immunophenotype are insufficient. They ultimately enable accurate disease categorization which affects initial treatment choice, treatment urgency, and risk stratification:
Favorable Prognosis (Core Binding Factor AML):
- t(8;21)(q22;q22); RUNX1::RUNX1T1: a well-defined cytogenetic abnormality in "Core Binding Factor" (CBF) leukemia, this subtype frequently exhibits aberrant CD19 expression and is associated with high complete remission rates and favorable long-term survival.
- inv(16)(p13.1q22) or t(16;16); CBFB::MYH11: a recurring cytogenetic abnormality in another CBF-AML subtype, it often presents with myelomonocytic features and abnormal eosinophils (AML-M4eo), and is associated with favorable prognosis.
Distinct Treatment Pathway
- t(15;17)(q24.1;q21.2); PML::RARA: defines Acute Promyelocytic Leukemia (APL). It is a medical emergency due to high early mortality from coagulopathy but is highly curable with targeted therapies like All-Trans Retinoic Acid (ATRA) and Arsenic Trioxide (ATO).
Adverse or Variable Prognosis
- t(9;22)(q34.1;q11.2); BCR::ABL1, also known as the "Philadelphia Chromosome" translocation: characteristic of CML, it occurs in rare cases of AML and is associated with a highly aggressive clinical course and low survival rate, often requiring intensive chemotherapy combined with Tyrosine Kinase Inhibitors (TKI).
- 11q23 (KMT2A) rearrangements: rearrangements of KMT2A gene (previously known as MLL) involve many partner genes and generally carry an intermediate to adverse prognosis. They are common in infant leukemias and therapy-related AML.
- 17p13 deletion (TP53): deletions of the TP53 gene define a highly treatment-resistant, high-risk subtype, typically associated with a complex karyotype and very poor prognosis.
Favorable Prognosis (Core Binding Factor AML):
- t(8;21)(q22;q22); RUNX1::RUNX1T1: a well-defined cytogenetic abnormality in "Core Binding Factor" (CBF) leukemia, this subtype frequently exhibits aberrant CD19 expression and is associated with high complete remission rates and favorable long-term survival.
- inv(16)(p13.1q22) or t(16;16); CBFB::MYH11: a recurring cytogenetic abnormality in another CBF-AML subtype, it often presents with myelomonocytic features and abnormal eosinophils (AML-M4eo), and is associated with favorable prognosis.
Distinct Treatment Pathway
- t(15;17)(q24.1;q21.2); PML::RARA: defines Acute Promyelocytic Leukemia (APL). It is a medical emergency due to high early mortality from coagulopathy but is highly curable with targeted therapies like All-Trans Retinoic Acid (ATRA) and Arsenic Trioxide (ATO).
Adverse or Variable Prognosis
- t(9;22)(q34.1;q11.2); BCR::ABL1, also known as the "Philadelphia Chromosome" translocation: characteristic of CML, it occurs in rare cases of AML and is associated with a highly aggressive clinical course and low survival rate, often requiring intensive chemotherapy combined with Tyrosine Kinase Inhibitors (TKI).
- 11q23 (KMT2A) rearrangements: rearrangements of KMT2A gene (previously known as MLL) involve many partner genes and generally carry an intermediate to adverse prognosis. They are common in infant leukemias and therapy-related AML.
- 17p13 deletion (TP53): deletions of the TP53 gene define a highly treatment-resistant, high-risk subtype, typically associated with a complex karyotype and very poor prognosis.
