Ann Lab Med.  2018 Mar;38(2):160-164. 10.3343/alm.2018.38.2.160.

Clinicopathological Characteristics of Hyperdiploidy with High-Risk Cytogenetics in Multiple Myeloma

• Yang N
• Mun YC
• Seong CM
• Huh HJ
• Huh J

• KMID: 2403362
• DOI: http://doi.org/10.3343/alm.2018.38.2.160

Abstract

In multiple myeloma (MM), hyperdiploidy (HD) is known to impart longer overall survival. However, it is unclear whether coexistent HD ameliorates the adverse effects of known high-risk cytogenetics in MM patients. To address this issue, we investigated the clinicopathological characteristics of HD with high-risk cytogenetics in MM. Ninety-seven patients with MM were included in the study. For metaphase cytogenetics (MC), unstimulated cells from bone marrow aspirates were cultured for either 24 or 48 hours. To detect HD by interphase fluorescence in situ hybridization (iFISH), we assessed trisomies of chromosomes 5, 7, 9, 11, 15, and 17. Of the 97 MM patients, 40 showed HD. The frequency of co-occurrence of HD and high-risk cytogenetics was 14% (14/97). When the clinicopathological characteristics were compared between the two groups of HD with high-risk cytogenetics vs. non-HD (NHD) with high-risk cytogenetics, the level of beta 2 microglobulin and stage distribution significantly differed (P=0.020, P=0.032, respectively). This study shows that some of the clinicopathological characteristics of MM patients with high-risk cytogenetics differ according to HD or NHD status.

Keyword

Hyperdiploidy; Multiple myeloma; Cytogenetics; High risk

MeSH Terms

beta 2-Microglobulin
Bone Marrow
Cytogenetics*
Fluorescence
Humans
In Situ Hybridization
Interphase
Metaphase
Multiple Myeloma*
Trisomy
beta 2-Microglobulin

Figure

• 

  Fig. 1 Karyotype and interphase fluorescence in situ hybridization* using a D5S721/D5S23/EGR1 probe in multiple myeloma patients with chromosome 5 aberrations. (A) Case 9 showing partial trisomy 5; two normal chromosome 5s and one del(5q). (B) Case 38 showing del(5q). (C) Case 38 showing one red signal loss (2G1R), suggestive of del(5q). (D) Case 6 showing three green and red signals (3G3R), suggestive of trisomy 5 (left panel); and four green and three red signals (G4R3), suggestive of partial tetrasomy 5 (three normal chromosome 5s and one del(5q)) (right panel). (E) Case 16 showing G4R3, suggestive of partial tetrasomy 5. *FISH probe design is as follows: Chromosome 5p15 shows a green signal (G), and 5q31 shows a red signal (R). The normal FISH pattern of chromosome 5 is two green signals and two red signals (2G2R).

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