ASXL1 MUTATIONAL ANALYSIS IN MYELOFIBROSIS PATIENTS IN KHYBER PAKHTUNKHWA

Authors

Laila Bahadur PATHWEL Centre of Hematology and BMTC, Rawalpindi
Humaira Taj Niazi Rehman Medical Institute, Peshawar
Kulsoom Bahadur Medask Pvt Ltd, Peshawar
Ansa Kulsoom Rehman Kabir Medical College, Peshawar
Saliha Syed DHQ Tangi, Charsadda
Sidra Humayun Muhammad College of Medicine, Peshawar

DOI:

https://doi.org/10.70520/kjms.v18i1.632

Keywords:

Janus Kinase 2, MPNs, CALR, ASXL1, Peshawar

Abstract

Objectives: To determine the patients with MPNs for JAK2 mutations and to Identify ASXL1 mutation in JAK2 positive and JAK2 negative patients.

Methodology: This descriptive cross-sectional study consists of two consecutive phases. In the first phase, patients with myelofibrosis (MF) were identified. Both previously diagnosed and newly diagnosed MF cases were included. Data collection involved a comprehensive questionnaire including demographic details, clinical history, and physical examination findings. Blood samples were collected from participants for routine investigations and DNA extraction. The second phase consisted of genomic DNA extraction, and conventional PCR was performed to determine JAK-2 mutational status. Additionally, direct Sanger sequencing of ASXL1 was carried out for all patients.

Results: The study included 50 myelofibrosis (MF) patients diagnosed based on bone marrow biopsy and reticulin staining. The cohort comprised primary and secondary MF cases, including male and female participants. JAK2 mutation analysis revealed that 48 (96%) patients were JAK2-positive, while only 2 (4%) patients were JAK2-negative. Direct Sanger Sequencing analysis of ASXL1 Exon 12 identified missense variations in 2 (4%) out of 50 patients.

Conclusion: The high prevalence of JAK2 mutations (96%) among MF patients underscores its significance in disease pathogenesis and diagnosis.

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