Overview of 1q abnormalities in multiple myeloma: scientific opinions from Italian experts

Multiple myeloma (MM) is a haematological malignancy characterised by high genomic heterogeneity. One of the most common cytogenic abnormalities in MM is the gain of genetic material at the long arm (q) of chromosome 1 (+ 1q). While many mechanisms of resistance have been associated with + 1q alterations (e.g. CD38 downregulation, impairment of complement-dependent cytotoxicity, or induction of immunosuppression), the precise genetic or pathogenetic factors responsible for these alterations are still being investigated. Although interphase fluorescence in situ hybridisation (iFISH) is the gold standard for the detection of + 1q abnormalities used by the majority of diagnostic laboratories worldwide, there are no universally recognised cut-offs for + 1q positivity or a threshold for clinical meaningfulness. Because iFISH alone is insufficient to elucidate the extent of + 1q and other cytogenetic abnormalities in MM, sequencing-based methods could be adopted. The second revision of the i...