TESTS AVAILABLE: FISH on separated Plasma Cells (CD138+ve)
Diagnostic and relapsed Multiple Myeloma: TP53 (17p13.1); 1q21/1p32.3; IGH-FGFR3 t(4;14); IGH-MAF t(14;16);
Minimum Myeloma panel : If insufficient cells available for a full panel , a minimum of two probes will be applied in the order stated previously.
At diagnosis aim is to distinguish between monoclonal gammopathy of undetermined significance, asymptomatic (smoldering) MM, symptomatic MM, solitary plasmacytoma, and other plasma cell diseases. Symptomatic MM is defined as the presence of 10% clonal bone marrow plasma cells and organ damage (hypercalcemia, renal failure, anaemia, or bone lesions [CRAB]). In addition, the presences of 60% bone marrow involvement or rapidly climbing paraprotein, regardless of CRAB, are considered as MM-related symptoms. The diagnostic work-up should include three subsequent levels of investigation to confirm the diagnosis, assess the prognosis, and establish the appropriate treatment. The International Staging System (ISS) is used to assess the prognosis of patients with symptomatic MM (CRAB). Chromosomal abnormalities IGH/FGFR3 t(4;14), IGH/MAF t(14;16), and IGH/MAFB t(14;20); chromosome1 abnormalities (del1p or gain of 1q); and del17p (TP53) detected by fluorescent in situ hybridization (FISH) are associated with poor prognosis. The isolated 13q deletion is not considered a high-risk feature. Hyperdiploidy, t(11;14), and t(6;14) are considered standard-risk features. The combination of FISH data with ISS stage improves risk assessment.