1p / 1q

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Deletions in 1p and amplifications in 1q

Chromosome 1 aberrations are the most common structural aberrations in MM and mostly involve deletions in 1p and amplifications in 1q. The deletions of 1p are mainly interstitial deletions and are associated with a poor prognosis.

Chromosome 1 aberrations involving the q arm are particularly complex and tend to become unstable during tumor progression. The 1q arm, particularly the 1q12∼q23 region, contains a large number of possible candidate genes that show amplification and/or deregulated expression important in myeloma, including MUC1, MCL1, PDZK1, IL6R, BCL9, CKS1B, PSMD4, UBAP2L, UBE2Q1, and ANP32E, among others. The amplification of the proximal 1q21 region in MM has been reported by FISH in about 40% of patients with newly diagnosed MM, and in 70% of patients at relapse. Amplification of 1q is associated with poor prognosis.