Multiple Myeloma Panel by FISH Test
Multiple Myeloma Panel by FISH Test
Fluorescence In Situ Hybridization (FISH) is a molecular cytogenetic technique used to detect chromosomal abnormalities in multiple myeloma (MM). The Multiple Myeloma Panel by FISH is a diagnostic tool that helps identify specific genetic changes associated with MM, aiding in prognosis and treatment planning. By detecting chromosomal rearrangements, deletions, and amplifications, this test provides valuable insights into disease progression and therapeutic responses.
Multiple myeloma is a plasma cell malignancy that originates in the bone marrow. It is characterized by the uncontrolled proliferation of abnormal plasma cells, which produce excessive monoclonal immunoglobulin (paraprotein), leading to bone destruction, anemia, kidney dysfunction, and immunosuppression. The exact cause of multiple myeloma is unknown, but risk factors include genetic predisposition, exposure to radiation or toxic chemicals, chronic inflammation, and certain viral infections.
This disease is commonly diagnosed in older adults, typically over the age of 65, and is more prevalent in men than women. Advances in genetic testing, such as FISH, have improved the ability to stratify patients into different risk categories, allowing for more personalized treatment approaches. Early detection of chromosomal abnormalities through FISH can significantly impact clinical decisions and patient outcomes.
Common genetic abnormalities detected include Deletion 17p (TP53 deletion), t (4;14) (IGH/FGFR3 translocation), t (14;16) (IGH/MAF translocation), t (11;14) (IGH/CCND1 translocation), and 1q21 gain/amplification.
What is the Multiple Myeloma Panel by FISH Used For?
This test is used to:
- Detect chromosomal abnormalities in multiple myeloma cells.
- Stratify prognosis based on genetic markers.
- Guide treatment decisions, particularly for targeted therapies.
- Monitor disease progression and response to therapy.
Symptoms of Multiple Myeloma
Patients with multiple myeloma may experience
Bone pain (especially in the back and ribs)
Frequent infections due to weakened immunity
Fatigue and weakness (caused by anemia)
Weight loss
Kidney dysfunction
Increased calcium levels leading to confusion, nausea, and constipation
Preparation for the Test
A bone marrow sample is required for analysis. No special preparation is needed, but inform your doctor about any medications or conditions that may affect bone marrow function. The procedure is usually done by bone marrow aspiration.
Interpretation of Results
|
Chromosomal Abnormality |
Result Interpretation |
Prognostic Significance |
|
t (11;14) (CCND1-IGH) |
Detected |
Standard-risk MM; responsive to BCL-2 inhibitors (e.g., Venetoclax). |
|
t (4;14) (IGH-FGFR3) |
Detected |
High-risk MM; associated with rapid disease progression and poor prognosis. |
|
t (14;16) (IGH-MAF) |
Detected |
High-risk MM; linked to aggressive disease and shorter survival. |
|
t (14;20) (IGH-MAFB) |
Detected |
High-risk MM; associated with poor outcomes. |
|
Deletion 17p (TP53 loss) |
Detected |
Very high-risk MM; linked to chemoresistance and poor survival. |
|
1q21 Gain (1q Amplification) |
Detected |
Intermediate- to high-risk MM; associated with poor response to therapy. |
|
1p Deletion |
Detected |
High-risk MM; may indicate disease progression. |
|
Hyperdiploidy (Extra copies of odd-numbered chromosomes: 3, 5, 7, 9, 11, 15, 19, 21) |
Detected |
Standard-risk MM; better prognosis with conventional therapy. |
FAQs
How is the FISH test different from conventional cytogenetics?
FISH is more sensitive and can detect chromosomal abnormalities even when present in a small number of cells, whereas conventional cytogenetics requires actively dividing cells.
How long does it take to receive results?
Typically, results are available within 7-10 days.
Can this test be repeated?
Yes, especially to monitor disease progression or treatment response.
What treatments are recommended based on FISH findings?
- High-risk patients may require proteasome inhibitors (e.g., bortezomib) and immunomodulatory drugs (e.g., lenalidomide).
- Standard-risk patients may follow conventional chemotherapy protocols.