Ann Lab Med 2018; 38(3): 196-203  
Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience
Hyun Ae Jung, M.D.1,2*, Mi-Ae Jang, M.D.3,4*, Kihyun Kim, M.D.1, and Sun-Hee Kim, M.D.4
Division of Hematology-Oncology, Department of Medicine1, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Internal Medicine2, Hallym University Medical Center, Hallym University College of Medicine, Dongtan; Department of Laboratory Medicine and Genetics3, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon; Department of Laboratory Medicine & Genetics4, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Corresponding author: Sun-Hee Kim
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2704
Fax: +82-2-3410-2719
Co-corresponding author: Kihyun Kim
Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-3456
Fax: +82-2-3410-0041
*These authors contributed equally to this work.
Received: March 27, 2017; Revised: June 23, 2017; Accepted: January 5, 2018; Published online: May 1, 2018.
© Korean Society for Laboratory Medicine. All rights reserved.

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Background: 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.
Methods: 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.
Results: 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).
Conclusions: 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.
Keywords: Multiple myeloma, Cytogenetics, Fluorescence in situ hybridization, Prognosis

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