Hyperdiploid Multiple Myeloma with Novel Complex Structural Chromosome Abnormalities Associated with Poor Prognosis : A Rare Case Report

Abstract

Hyperdiploid multiple myeloma (MM) is associated with better prognosis and non-hyperdiploid subtype is associated with variable to adverse prognosis based on the nature of karyotype abnormality. Rarely exceptions to this hyperdiploid and non-hyperdiploid divisions do exist in a minority. We report an adult male MM patient who showed hyperdiploid karyotype with few novel complex abnormalities and who showed poor clinical outcome. Conventional cytogenetic analysis carried out in 22 GTG banded metaphases showed 53,Y,der(X)t(X;22)(q27;q11.2),+3,+5,+6,+9,+11,+15,der(17)ins(17;1;3)(q11.2;?;?),der(17)ins(17;1;3)(q11.2;?;?),+19,-22,+mar karyotype pattern in 15 metaphases whereas 7 metaphases showed 46,XY karyotype pattern. Interphase FISH revealed biallelic del(13q14) and del(17p13) but no translocations involving the 14q32 region. Through Spectral karyotyping FISH, the origin of complex abnormalities involving der(17) chromosome, translocation t(X;22), and marker chromosome could be clearly delineated. Although the present case showed hyperdiploid karyotype, he showed an adverse prognosis probably due to the co-existence of high risk and complex abnormalities and expired 5 months after initial diagnosis despite standard treatment given.

Optimization of Plasma Cell Enrichment for CNV Detection by SNP Array and Mlpa

“…The most frequent type of abnormalities in MM is the CNV's (copy number variations). The duplication of odd chromosome (3,5,7,9,11,15,19,21) divides MM in hyperdiploid and non-hyperdiploid (Buedts, Smits et al 2020) and is found in around 50% of MM and confer a good prognosis (Fonseca, Barlogie et al 2004, Barilà, Bonaldi et al 2020, Ankathil, Foong et al 2021. The deletion of chr 1p has an incidence of approximatively 30% and give a poor prognosis especially if 1p32 is implicated (Qazilbash, Saliba et al 2007, Ouyang, Gou et al 2014.…”