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Plasma Cell Neoplasms Panel by FISH

Test Code

F MM

Test Synonyms

1p-, 1q+, 5,+9, t(11;14), 13q-, +15, 17p-, reflex t(4;14) / t(14;16)

Associations

Multiple Myeloma

Reflex testing
F MM will be auto reflexed to F FGFR3 t(4;14) and F IGH MAF t(14;16) when IGH is rearranged with a locus other than BCL1
Methodology

Fluorescence in situ Hybridization (FISH)

1p32.3 (CDKN2C)/1q21 (CKS1B)
5p15.31 (D5S630,D5S2064)/5q31.2 (EGR1)
CEP 9 (D9Z1)
11q13 (CCND1)/14q32.3 (IGH)
CEP 15 (D15Z4)
13q14.3 (D13S319)/13q34
17p13 (TP53)/CEP17 (D17Z1)

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

Specimen Stability
Peripheral blood and bone marrow stable at 18-25°C for 72 hours
Storage & Handling

Whole blood and bone marrow, ship ambient

Causes for Rejection

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

Reference Range

See report

Description

Aneuploidy is a frequent finding in plasma cell myeloma.  Approximately 60-70% of myeloma cases have been reported to have hyperdiploid clones. About 10-20% have been reported to have pseudodiploid clones, and 10-30% have been reported to have hypodiploid clones. The most frequent cytogenetic abnormalities are 13q13~q14 deletions and translocations involving the immunoglobulin heavy chain (IGH) gene on 14q32, most frequently t(11;14), t(4;14) and t(14;16) whereas 17p13 deletions are rare. FISH can detect these abnormalities in either interphase or metaphase cells.

References
  1. Christensen Jacob et al. (2007). Cancer Genetics and Cytogenetics. 174:89-99.
  2. Schmidt-Wolf IGH. et al. (2006). Cancer Genetics and Cytogenetics. 167:20-25.
  3. Fonseca R et al. (2004). Genetics and cytogenetics of multiple myeloma: a workshop report. Cancer Res. 64:1546-1558.
  4. Nilsson T et al. (2003 Mar). A pooled analysis of karyotypic patterns, breakpoints and imbalances in 783 cytogenetically abnormal multiple myelomas reveals frequently involved chromosome segments as well as significant age- and sex-related differences.Br J Haematol.120(6):960-9.