Expression of JAK2 V617F Mutation in BCR - ABL Negative Myeloproliferative Neoplasms

Article Information

Title: Expression of JAK2 V617F Mutation in BCR - ABL Negative Myeloproliferative Neoplasms

Authors: Kehkashan Hassan, Ayesha Khursheed, Hamid Saeed Malik, Manzar Bozdar, Rafia Mahmood, Zara Tasneem

Journal: Journal of Islamabad Medical and Dental College (JIMDC)

HEC Recognition History

Category	From	To
Y	2024-10-01	2025-12-31
Y	2023-07-01	2024-09-30
Y	2022-07-01	2023-06-30
Y	2021-07-01	2022-06-30
Y	2020-07-01	2021-06-30

Publisher: Healers Educational Society

Country: Pakistan

Year: 2023

Volume: 12

Issue: 4

Language: English

DOI: 10.35787/jimdc.v12i4.1057

Abstract

OBJECTIVE: To detect the presence of JAK2V617F mutation in BCR - ABL negative myeloproliferative neoplasms and to stratify high risk patients for targeted therapy.PLACE AND DURATION OF STUDY: Department of Haematology, Armed forces institute of Pathology (AFIP), Rawalpindi, from Dec 2023 to Oct 2023.STUDY DESIGN: Descriptive cross sectional studyMETHODOLOGY: A total of 40 consecutive patients of BCR - ABL 1 negative myeloproliferative disorders were included in the study after being diagnosed according to WHO defined haematological criteria for each disorder and performing bone marrow examination under aseptic measures. Informed consent and ethical approval were obtained from each individual. All patients had their blood samples examined for the G-T point mutation (V617F) in the JAK2 gene located on chromosome 9, utilizing allele-specific real-time qualitative polymerase chain reaction (RT-qPCR). Results were analyzed by using SPSS version 22.RESULTS: Out of total 40 patients included in our study 21(52.5%) had Polycythemia Vera (PV), 15 (37.5%) had Primary myelofibrosis (PMF) and 4 (10%) had Essential thrombocythemia (ET). JAK2 mutation was found in 20 (95.2%) patients of PV, 9 (60%) patients of PMF and 2 (50%) patients of ET with a significant p-value of ˂ 0.001.CONCLUSIONS: JAK2 V617F is a useful clinical marker for establishing diagnosis and separating high risk patients for specific targeted therapy.

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Research Objective

To detect the presence of JAK2V617F mutation in BCR-ABL negative myeloproliferative neoplasms and to stratify high risk patients for targeted therapy.

Methodology

This cross-sectional study involved 40 consecutive patients diagnosed with BCR-ABL1 negative myeloproliferative disorders according to WHO criteria. Bone marrow aspiration and biopsy were performed. DNA was extracted from peripheral blood samples and analyzed for the JAK2 V617F mutation using allele-specific real-time qualitative polymerase chain reaction (RT-qPCR). Data were analyzed using SPSS version 22.

Methodology Flowchart

                        graph TD;
    A["Patient Recruitment 40 patients with BCR-ABL1 negative MPNs"] --> B["Informed Consent & Ethical Approval"];
    B --> C["Bone Marrow Aspiration & Biopsy"];
    C --> D["DNA Extraction from Peripheral Blood"];
    D --> E["Allele-Specific Real-Time RT-qPCR for JAK2 V617F Mutation"];
    E --> F["Data Analysis SPSS v22"];
    F --> G["Results Interpretation"];
    G --> H["Conclusion & Stratification for Targeted Therapy"];

Discussion

The JAK2 V617F mutation is a crucial diagnostic and prognostic marker for BCR-ABL negative myeloproliferative neoplasms (MPNs). Its detection aids in differentiating primary clonal disorders from reactive causes and is essential for stratifying high-risk patients for targeted therapy with JAK inhibitors. The study's findings align with previous research on the prevalence of this mutation in different MPN subtypes.

Key Findings

Out of 40 patients, 21 had Polycythemia Vera (PV), 15 had Primary Myelofibrosis (PMF), and 4 had Essential Thrombocythemia (ET). The JAK2 V617F mutation was found in 95.2% of PV patients, 60% of PMF patients, and 50% of ET patients, with a significant p-value of 0.017.

Conclusion

The detection of the JAK2 V617F mutation using RT-PCR is valuable for the early diagnosis of myeloproliferative disorders, improving disease management, prognosis, and survival, especially with the availability of JAK2 inhibitors. The study also highlights the ongoing need to address vascular and thrombotic complications in MPN patients.

Fact Check

* The study included 40 consecutive patients. (Confirmed in Results section)
* The JAK2 mutation was found in 95.2% of PV patients. (Confirmed in Results section)
* The study was conducted from December 2022 to October 2023. (Confirmed in Methodology section)

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