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

Ravindran   Ankathil; Eva  Foong; Ismail  Siti-Mariam; Ramli   Norhidayah; Mohd  Yunus Nazihah; Vijay Sangeetha; Sreedharan   Hariharan; Husin  Azlan

doi:10.18502/ijhoscr.v15i3.6852

Ravindran Ankathil Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Eva Foong Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Ismail Siti-Mariam Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Ramli Norhidayah Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Mohd Yunus Nazihah Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Kelantan, Malaysia
Vijay Sangeetha Regional Cancer Centre, Medical College, Thiruvananthapuram, Kerala, India
Sreedharan Hariharan Regional Cancer Centre, Medical College, Thiruvananthapuram, Kerala, India
Husin Azlan Department of Internal Medicine and Clinical Hematology, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia

DOI: https://doi.org/10.18502/ijhoscr.v15i3.6852

Keywords: Multiple myeloma; Conventional cytogenetics; Interphase fluorescence in situ hybridization (iFISH); Spectral karyotyping; Novel complex cytogenetic abnormalities

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.