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IGH/MAF t(14;16) by FISH

Test Code

F IGH MAF

Test Synonyms

t(14;16)(q32;q23), Immunoglobulin heavy chain / MAF gene

Associations

Myeloma, MGUS

Methodology

Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

2.0 mL (min. 1.0 mL) peripheral blood in sodium heparin preferred, EDTA accepted
1.0 mL (min. 0.5 mL) bone marrow in sodium heparin preferred, EDTA accepted
5 mm^3 fresh tissue or 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media

Specimen Stability
Peripheral blood and bone marrow stable at 18-25°C for 72 hours
Fresh tissue or FNA stable at 2-8°C for 72 hours
Storage & Handling

Whole blood and bone marrow, ship ambient
Fresh tissue, FNA or paraffin embedded tissue, ship in a Styrofoam container with a cool/refrigerated pack (Do not allow cool pack to directly contact sample)

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

In a normal cell, a two orange, two green signal pattern will be observed. In an abnormal cell containing the t(14;18) translocation, a one orange (MAF), one green (IGH), and two fusion (IGH/MAF and MAF/IGH) signals observed.

Description

The t(14;16)(q32;q23) is detectable in 2–10% of patients with plasma cell myeloma and in about 25% of myeloma cell lines. The t(14;16)(q32;q23) is difficult to detect by conventional karyotypes. Although some studies report a low prevalence of the t(14;16) in newly diagnosed patients, other studies reveal that a small percentage of patients show the t(14;16) at the time of initial diagnosis. Translocation (14;16)(q32;q23) has also been described in MGUS.
FISH can detect this rearrangement in either interphase or metaphase cells.

References
  1. Fonseca et al. (2004). Genetics and cytogenetics of multiple myeloma: A workshop report. Cancer Res. 64:1546.
  2. Hideshima et al. (2004). Advances in biology of multiple myeloma: clinical applications. Blood. 104:607.
  3. Pratt G. (2002). Molecular aspects of multiple myeloma. J Clin Pathol: Mol Pathol. 55:273.