Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience
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 si...
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Published in | Annals of laboratory medicine Vol. 38; no. 3; pp. 196 - 203 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
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Korea (South)
The Korean Society for Laboratory Medicine
01.05.2018
대한진단검사의학회 |
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Abstract | 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. |
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AbstractList | 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. KCI Citation Count: 2 BACKGROUNDThe 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.METHODSIn 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.RESULTSUsing 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).CONCLUSIONSOur findings highlight the importance of applying a comprehensive approach for detecting genetic abnormalities, which could be closely associated with the prognostic significance of MM. 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. |
Author | Kim, Sun Hee Kim, Kihyun Jung, Hyun Ae Jang, Mi Ae |
AuthorAffiliation | 4 Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea 1 Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea 3 Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea 2 Department of Internal Medicine, Hallym University Medical Center, Hallym University College of Medicine, Dongtan, Korea |
AuthorAffiliation_xml | – name: 2 Department of Internal Medicine, Hallym University Medical Center, Hallym University College of Medicine, Dongtan, Korea – name: 4 Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea – name: 1 Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea – name: 3 Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea |
Author_xml | – sequence: 1 givenname: Hyun Ae surname: Jung fullname: Jung, Hyun Ae organization: Department of Internal Medicine, Hallym University Medical Center, Hallym University College of Medicine, Dongtan, Korea – sequence: 2 givenname: Mi Ae surname: Jang fullname: Jang, Mi Ae organization: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea – sequence: 3 givenname: Kihyun surname: Kim fullname: Kim, Kihyun email: kihyunkimk@gmail.com organization: Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kihyunkimk@gmail.com – sequence: 4 givenname: Sun Hee surname: Kim fullname: Kim, Sun Hee email: drsunnyhk@gmail.com organization: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. drsunnyhk@gmail.com |
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Cites_doi | 10.1038/leu.2009.174 10.1016/j.clml.2012.05.003 10.1016/j.cancergencyto.2006.02.015 10.1182/blood-2006-08-040410 10.1007/s00277-014-2057-5 10.3343/alm.2013.33.4.248 10.1038/leu.2012.282 10.1200/JCO.2005.05.021 10.1038/sj.onc.1204641 10.1002/1097-0142(197509)36:3<842::AID-CNCR2820360303>3.0.CO;2-U 10.2353/jmoldx.2007.060128 10.3343/kjlm.2008.28.6.413 10.1111/j.1365-2141.2011.08849.x 10.4143/crt.2007.39.4.171 10.1038/leu.2013.247 10.1182/blood-2010-10-300970 10.1111/ejh.12257 10.1002/(SICI)1098-2264(199702)18:2<84::AID-GCC2>3.0.CO;2-X |
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Keywords | Cytogenetics Prognosis Fluorescence in situ hybridization Multiple myeloma |
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Title | Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience |
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