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:
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)
Storage and transport
Bone marrow in bone marrow transport medium. Do not spindown or freeze samples before sending. Samples must arrive within 24 hours
Turnaround time
Current service turnaround times: 5-10 calendar days; National targets: Non-urgent- 95% reprted within 21 days
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