Plasma cell myeloma (multiple myeloma, MM)

Description: 
Available tests Fluorescence in situ hybridisation for: CKS1B/CDKN2C to detect 1q21 gain and 1p32 deletion;
TP53 (17p13.1);
DLEU/LAMPto detect del(13q)/-13;
IGH t(14;?);
IGH-FGFR3 t(4;14);
IGH-CCND1 t(11;14);
IGH-MAF t(14;16);
IGH-MAFB t(14;20);
IGH-CCND3 t(6;14);
D5S23,D5S721/CEP9/CEP15 and ATM (11q22.3) to detect hyperdiploidy
Clinical details: 
Cytogenetic analysis in plasma cell myeloma is carried out by interphase FISH analysis of CD138 positive cells enriched from bone marrow aspirate samples. This technique allows analysis of the malignant plasma cells in patients with a known diagnosis of myeloma and removes the possibility of false negative results occurring due to analysis of non-malignant cells. A number of abnormalities detected in this way have prognostic significance and are playing an increasing role in informing patient management including treatment decisions, and as such interphase FISH analysis is standard-of-care at diagnosis and relapse/progression of disease. FISH testing strategy:
Synonyms or keywords: 
CKS1B, CDKN2C, 1q21, 1p32, TP53, p53, monsomy 13 IGH, IGH-FGFR3, t(4;14), IGH-CCND1, t(11;14), IGH-MAF, t(14;16), IGH-MAFB, t(14;20), IGH-CCND3, t(6;14), Hyperdiploidy
Department: 
Sample type and Volume required: 
Bone marrow aspirate; European Myeloma Network guidelines recommend that material sent for cutogenetic analysis must be part of the first draw of the aspirate, or that the needle is repositioned for further aspiration (Reference: Ross et al. Report from the European Myeloma Network on interphase FISH in multiple myeloma
and related disorders. Haematologica 2012;97(8):1272-1277)
Turnaround time: 
Current service turnaround times: 5-10 calendar days; National targets: Non-urgent- 95% reprted within 21 days
Storage and transport: 
Bone marrow in bone marrow transport medium. Do not spindown or freeze samples before sending. Samples must arrive within 24 hours
Contacts:
Oncology Cytogenetics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 1715
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015