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JAK2 V617F and Exon 12 Genetic Variations in Korean Patients with BCR/ABL1-negative Myeloproliferative Neoplasms

박영진|김혜란|이영진|박건|장숙진|조용곤|최삼임|문대수|김정태
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2010.12|Annals of Laboratory Medicine|제30권 제6호|pp. 567-574

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키워드

JAK2Myeoloproliferative neoplasmsV617FExon 12rs56241661
주제분류병리학

초록

Background : JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients with BCR/ABL1-negative MPN. Methods : We examined a total of 154 patients with BCR/ABL1-negative MPN that included 24, 26, 89, and 15 patients with polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), and unclassified myeloproliferative neoplasms (MPNU), respectively. We performed allele-specific PCR to detect V617F in all BCR/ABL1-negative patients, and performed direct sequencing to detect exon 12 variations in 47 V617F-negative MPN patients. JAK2 c.1641+179_183del5 variation was detected by restriction fragment length polymorphism assay in 176 healthy subjects. Results : JAK2 V617F was detected in 91 patients (59.1%): PV (91.6%), PMF (46.2%), ET (52.8%), and MPNU (66.7%). In V617F-negative MPN patients, no mutations were found in exon 12. The c.1641+179_183del5 was detected in 68.1% of V617F-negative MPN patients and 45.4% of healthy subjects (P=0.008). JAK2 V617F was closely correlated with age and leukocytosis in BCR/ABL1-negative MPN patients (P<0.05). However, c.1641+179_183del5 was not related to age, sex, or complete blood cell count parameters in V617F-negative MPN patients and healthy subjects. The c.1641+179_183del5 was associated with an increased odds ratio for MPN (odds ratio, 2.6;95% confidences interval, 1.3-5.1; P=0.007). Conclusions : Frequencies of V617F are similar to reported results. JAK2 exon 12 mutations may be rare and c.1641+179_183del5 may influence the occurrence of MPN in Korean patients with V6 17F-negative MPN. (Korean J Lab Med 2010;30:567-74)

Abstract

Background : JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients with BCR/ABL1-negative MPN. Methods : We examined a total of 154 patients with BCR/ABL1-negative MPN that included 24, 26, 89, and 15 patients with polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), and unclassified myeloproliferative neoplasms (MPNU), respectively. We performed allele-specific PCR to detect V617F in all BCR/ABL1-negative patients, and performed direct sequencing to detect exon 12 variations in 47 V617F-negative MPN patients. JAK2 c.1641+179_183del5 variation was detected by restriction fragment length polymorphism assay in 176 healthy subjects. Results : JAK2 V617F was detected in 91 patients (59.1%): PV (91.6%), PMF (46.2%), ET (52.8%), and MPNU (66.7%). In V617F-negative MPN patients, no mutations were found in exon 12. The c.1641+179_183del5 was detected in 68.1% of V617F-negative MPN patients and 45.4% of healthy subjects (P=0.008). JAK2 V617F was closely correlated with age and leukocytosis in BCR/ABL1-negative MPN patients (P<0.05). However, c.1641+179_183del5 was not related to age, sex, or complete blood cell count parameters in V617F-negative MPN patients and healthy subjects. The c.1641+179_183del5 was associated with an increased odds ratio for MPN (odds ratio, 2.6;95% confidences interval, 1.3-5.1; P=0.007). Conclusions : Frequencies of V617F are similar to reported results. JAK2 exon 12 mutations may be rare and c.1641+179_183del5 may influence the occurrence of MPN in Korean patients with V6 17F-negative MPN. (Korean J Lab Med 2010;30:567-74)

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관련 논문AI추천

JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia기창석, 김선희, 김종원, 김희정, 김희진, 유은형, 장자현대한진단검사의학회 · Annals of Laboratory Medicine2010 · 제30권 제5호한국인 본태성혈소판혈증 환자에서 JAK2V617F 유전자 변이박필환, 방수미, 서일혜, 신동복, 안정열, 유수진, 이재훈대한진단검사의학회 · Annals of Laboratory Medicine2007 · 제27권 제2호Correlations between Janus Kinase 2 V617F Allele Burdens and Clinicohematologic Parameters in Myeloproliferative Neoplasms김유경, 정순일, 정인성, 정혜라, 하정숙대한진단검사의학회 · Annals of Laboratory Medicine2012 · 제32권 제6호Diagnostic Usefulness of the Janus Kinase 2 Mutation in non­BCR/ABL Myeloproliferative Disorders박필환, 방수미, 서일혜, 안정열, Dong Bok Shin, Eun Kyung Cho, Eun Mi Nam, Jae Hoon Lee, Jiyoon Park, Se Hoon Park, Soo Jin Yoo대한내과학회 · The Korean Journal of Internal Medicine2006 · 제21권 제4호골수증식종양 환자에서 MPL W515 돌연변이 빈도와 임상혈액학적 특징김경보, 김유경, 김재룡, 류남희, 박성균, 서장수, 이원목, 전동석, 하정숙, 함지연대한진단검사의학회 · Laboratory Medicine Online2015 · 제5권 제1호실시간 반정량 PCR, JAK2 MutaScreenTM kit를 이용한 JAK2 V617F 유전자 변이 선별검사의 유용성김명신, 김용구, 민우성, 이제훈, 이종욱, 임지향, 정승원, 조병식, 조석구, 한경자, 채효진1대한진단검사의학회 · Annals of Laboratory Medicine2009 · 제29권 제3호

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