Year: 2025
Type: article
Study design: Observational Study
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.
Institution: Rehman Medical Institute
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409524577