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E-ISSN: 3061-9947
CALR, JAK2 and MPL Genes Mutations in Myeloproliferative Neoplasms, Single Center Experience
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Original Article
VOLUME: 52 ISSUE: 3
P: 388-392
2019

CALR, JAK2 and MPL Genes Mutations in Myeloproliferative Neoplasms, Single Center Experience

Acta Haematol Oncol Turc 2019;52(3):388-392
DOI: 10.5505/aot.2019.03521
Taha Bahsi 1
Tuğçe Nur Yiğenoğlu 2
1. Sbu Abdurrahman Yurtaslan Ankara Oncology Training And Research Hospital, Medical Genetics Department
2. Sbu Abdurrahman Yurtaslan Ankara Oncology Training And Research Hospital, Hematology Department
3.
No information available.
No information available
Received Date: 2019-10-17T18:07:25
Accepted Date: 2019-12-27T14:22:45
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Abstract

INTRODUCTION

Genetic tests are very important for the diagnosis of Philedelphia negative myeloproliferative neoplasms (MPN), in addition to clinical findings and laboratory results. JAK2 V617F mutation is the most common genomic variaton among these group of diseases. Otherwise, analysis of W515L/K mutation in MPL gene and CALR gene mutations is crucial. In this study, prevalence of JAK2 V617F, MPL W515L/K mutations and, spectrum and prevalence of CALR gene mutations were investigated in MPN patients.

METHODS

Genetic test results of JAK2 V617 mutation, MPL W515L/K mutation and CALR gene mutations of 41 MPN patients were analysed, retrospectively. Genetic parameters were performed with real-time PCR.

RESULTS

While the frequency of JAK2 V617F mutation was 36% and CALR mutation was 17% in all patients, MPL W515L/K mutation was not detected in any patient. In terms of subgroups of MPN; in polycythemia vera, essential thrombocytosis and primary myelofibrosis groups, the incidence of JAK2 V617F mutation was 67%, 33% and 25%, respectively; and the incidence of CALR mutation was 8%, 29% and 8%, respectively. MPL W515L/K was absent in all groups.

DISCUSSION AND CONCLUSION

Previous studies have reported that the frequency of JAK2 V617F, MPL W515L/K and CALR mutations in Ph (-) MPN group diseases is very variable. As conclusion, it is thought that environmental factors such as smoking and altitude have an effect besides epigenetic factors such as ethnicity in distribution of mutations.