Ann Lab Med.  2018 May;38(3):196-203. 10.3343/alm.2018.38.3.196.

Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience

  • 1Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 2Department of Internal Medicine, Hallym University Medical Center, Hallym University College of Medicine, Dongtan, Korea.
  • 3Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
  • 4Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.


The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional cytogenetics and FISH and analyzed the prognostic significance of the identified additional abnormalities in MM.
In total, 267 bone marrow samples were collected from February 2006 to November 2013 from patients who were newly diagnosed as having MM in a tertiary-care hospital in Korea. The clinical and laboratory data were retrospectively obtained. Cox proportional hazard regression was used to examine the relationship between clinical/genetic factors and survival outcome, using univariate and multivariate models.
Using conventional cytogenetic analysis and FISH, 45% (120/267) and 69% (183/267) patients, respectively, were identified to harbor genetic abnormalities. In the univariate analysis, the following genetic variables were identified to affect OS: abnormal karyotype (P < 0.001), aneuploidy (P=0.046), −13 or del(13q) (P=0.002), 1q amplification (P < 0.001), and t(4;14) (P=0.020). In the multivariate analysis, the presence of −13 or del(13q) was the only significant genetic factor affecting OS (P=0.012) with a hazard ratio (HR) of 2.131 (95% confidence interval [CI], 1.185-3.832) in addition to the clinical factor of age (>65 years) (P=0.013) with an HR of 2.505 (95% CI, 1.218-5.151).
Our findings highlight the importance of applying a comprehensive approach for detecting genetic abnormalities, which could be closely associated with the prognostic significance of MM.


Multiple myeloma; Cytogenetics; Fluorescence in situ hybridization; Prognosis
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