Sidra Humayun, Muhammad Tariq Masood Khan, Javaid Hassan, Mohsin Ali, Ghulam Farooq.
Analysis of calreticulin (CALR) mutation in myelofibrosis patients in Khyber Pakhtunkhwa.
J Med Sci May ;30(1):3-8.

Objective: To analyze the prevalence of CALR and JAK2 mutation co-occurrence in MF patients in KPK. Methods: This cross-sectional study included MF patients (n = 50) enrolled in the Hematology/Oncology department of Hayatabad Medical Complex (HMC), IRNUM (Institute of Radiotherapy and Nuclear Medicine), Peshawar and Blood Diseases Clinic, Peshawar. Non-probability convenience sampling technique was used. All Patients with JAK2 V617F positive and negative primary or secondary myelofibrosis were included. After taking blood samples, DNA was extracted manually and analysed for JAK2 mutations using conventional PCR. Sanger sequencing technique was implied to analyse the samples for CALR mutations. Data were recorded & analysed statistically. Results: Among the 50 patients of myelofibrosis under study, 48(96%) were harboring JAK2 mutations while it was not present in 2 (4%) patients. The typical CALR mutations was not identified in the current study. However, 02 specific genetic variants were identified in 30 patients i.e., a single nucleotide polymorphism (c.1381 G > T) in the 3? UTR and a novel insertion-deletion variant (c. 1099 CTT > AC). Seven patients had the Indel frameshift variant (p.Leu 367 Thr Fx 63), whereas 23 had SNPs. In JAK-2 positive patients (n=28), 06 had the Indel variant, and 22 had the SNPs. Two patients were JAK2 negative, one with SNP and the other with a frameshift mutation. Conclusion: Majority of the MF patients had a novel frameshift variant (p. Leu367Thr Fx63) (n = 07) and an SNP in the 3? UTR region (G > T) (n = 23) in CALR gene.

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