Myeloma Add On Panel
Methodology
FISH
Test Description and clinical significance
Probes
(14q32.33 & 14q32.33/16q23.1-q23.2 & 14q32.33/20q12 & 4p16.3/14q32.33)
Disease:
Multiple Myeloma, mantle cell lymphoma, Marginal Zone Lymphoma, NHL, endometrial endometrioid adenocarcinoma, follicular lymphoma, mature B-cell neoplasm, chronic lymphocytic leukemia, prolymphocytic leukemia, plasma cell leukemia
comprehensive panel to detect cytogenetic abnormalities associated with plasma cell dyscrasia.
IGH (immunoglobulin heavy chain) is the large polypeptide subunit of an immunoglobulin and located on chromosome 14. FISH can detect the rearrangements of the IGH gene which is associated in many hematologic cancers. IgH (immunoglobulin heavy chain) gene rearrangement is known to be the most frequent chromosome change in multiple myeloma. assess quantitative and qualitative changes in IGH gene on 14q32.33.
t(14;16) gene fusions involving the IGH gene at 14q32 and the MAF gene at 16q23 is generated during B-cell maturation in germinal centers possibly as a result of errors in the IGH switch recombination. The anomaly appears to be an early event in the genesis of plasma cell neoplasms (PCN) as it occurs in both MGUS and MM. Presence of an IGH-MAF rearrangement is a sign of poor prognosis in myeloma.
t(14:20) gene fusions involving the IGH gene at 14q32 and the MAFB gene at 20q12 are seen in multiple myeloma and MGUS. Presence of an IGH-MAFB rearrangement is a sign of poor prognosis in myeloma.
T(4:14) gene fusions involving the IGH gene at 14q32 and the FGFR3 gene at 4p16 are seen in multiple myeloma and MGUS. The identification of such fusions can assist in the diagnosis and classification of this disease. This rearrangement is not easily detectable by karyotype analysis. Presence of an IGH-FGFR3 rearrangement is a sign of poor prognosis in myeloma.
Specimen Requirements
Collection:
The ordering pathologist will decide whether to order a conventional FISH preparation or a Plasma-cell enrichment (PCE) FISH preparation.
Bone Marrow Aspirate: 1~2mL in Green top (Sodium Heparin) tube OR Lavender top (EDTA) tube. Plasma cell enrichment eligible.
Peripheral Blood: 2~5mL Green top (Sodium Heparin) tube OR Lavender top (EDTA) tube. Plasma cell enrichment eligible ONLY IF circulating plasma cells are noted in PB.
Fresh, Unfixed Tissue: Tissue in RPMI. A conventional FISH preparation will be performed as plasma cell enrichment can not be performed on fresh tissues.
Fluids: Equal parts RPMI to specimen volume. A conventional FISH preparation will be performed as plasma cell enrichment can not be performed on fresh fluid tissues.
Paraffin Block: H&E slide and paraffin block. Plasma cell enrichment can not be performed on paraffin embedded tissues. Enumeration probe types (1p36/1q25, 13q14.2/13q34, CEN9, and TP53/CEN17) are not compatible with paraffin embedded tissues.
Cut Slides: H&E slide and 1 unstained slide (cut at 4 microns) per probe. Plasma cell enrichment can not be performed on paraffin embedded tissues. Enumeration probe types (1p36/1q25, 13q14.2/13q34, CEN9, and TP53/CEN17) are not compatible with paraffin embedded tissues.
Stability:
120 Hours/48 hours
Unacceptable Conditions:
DO NOT FREEZE
Storage & Transport
Room Temperature/Refrigerated (2–8°C )
CPT(s)
88377x4 or 88377x4, 88112 based on sample type
New York Approved
YES
TAT
2 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
