Open AccessHyperdiploid Multiple Myeloma with Novel Complex Structural Chromosome Abnormalities Associated with Poor Prognosis : A Rare Case Report
Author(s) -
Ravindran Ankathil,
Foong Eva,
Ismail Siti-Mariam,
Ramli Norhidayah,
Mohd Yunus Nazihah,
V. Sangeetha,
S Hariharan,
Azlan Husin
Publication year - 2021
Publication title -
international journal of hematology- oncology and stem cell research.
Language(s) - English
Resource type - Journals
eISSN - 2008-3009
pISSN - 2008-2207
DOI - 10.18502/ijhoscr.v15i3.6852
Subject(s) - karyotype , chromosomal translocation , biology , chromosome , multiple myeloma , abnormality , g banding , medicine , cytogenetics , pathology , genetics , immunology , gene , psychiatry
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.