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Janus Kinase V617F Mutation Detection in Patients with Myelofibrosis

D Nikolova^1,2, A Yordanov², V Damyanova^1,2

¹Department of Medical genetics, Medical Faculty, Medical University Sofia, Sofia, Bulgaria.

Balkan Journal of Medical Genetics : BJMG

|September 17, 2019

Summary

The Janus kinase 2 (JAK2) V617F mutation is prevalent in myelofibrosis (MF) patients, with 60% carrying the mutation. This finding suggests a potential link between JAK2 V617F mutation burden and MF development in myeloproliferative neoplasm patients.

Area of Science:

Hematology
Oncology
Genetics

Background:

Myelofibrosis (MF) is a bone marrow disorder characterized by fibrosis and extramedullary hematopoiesis.
The Janus kinase 2 (JAK2) V617F somatic mutation is frequently observed in myeloproliferative neoplasms (MPNs), including MF and essential thrombocythemia (ET).

Purpose of the Study:

To determine the genotype status of the JAK2 V617F mutation in patients diagnosed with myelofibrosis.
To investigate the prevalence of JAK2 V617F mutation carriers among MF patients in Bulgaria.

Main Methods:

DNA samples were collected from patients with suspected MF or osteomyelofibrosis.
Polymerase chain reaction (PCR) and BsaXI restriction enzyme analysis were used to determine JAK2 V617F genotype.
Genotyping was performed on 2.0% agarose gel for 38 patients, with 20 confirmed MF cases.

Main Results:

Of 38 patients, 20 were confirmed with MF (52.6%).
Among MF patients, 60% (12/20) carried the JAK2 V617F mutation (15% homozygous, 45% heterozygous).
The JAK2 V617F mutation was present in 60.0% of MF patients, indicating its prevalence.

Conclusions:

The JAK2 V617F mutation is a significant genetic factor in myelofibrosis.
A higher burden of the JAK2 V617F mutation may be associated with the risk of developing MF in MPN patients.
Further research into genetic predisposition factors for MF is warranted.

Keywords:

JAK2 (Janus kinase 2) V617F mutation Myelofibrosis (MF)Myeloproliferative neoplasms (MPN)

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