Genetic analysis of driver mutations in classical myeloproliferative neoplasms – a study from a South Indian Tertiary Care Center.

Pai, Usha K.N.; Sankarankutti, Ragitha T.; Rafi, Aboobacker M.; John, Mithun C.; Raj, Soumya; Earali, Jerry; Raveendran, Suresh K.

Background: Despite being one of the most populated and diverse countries in the world, there is a paucity of data on the prevalence of driver mutations in classical myeloproliferative neoplasms (MPN) in India. Aim: In the present study, we aimed to analyze somatic driver mutations such as JAK2 , CALR , and MPL in classical MPNs in a South Indian Tertiary Care Center. Patients and methods: Out of 185 suspected MPN patients screened, based on WHO 2016 criteria, 72 MPN patients were included in this study. JAK2 V617F and MPL mutations were screened using an allele-specific PCR assay. JAK2 exon 12 and CALR exon 9 mutations were screened by PCR Sanger sequencing. Results: In the present study, JAK2 V617F mutation was detected in 88.8% of polycythemia vera, 66.6% of essential thrombocythemia, and 53.3% of primary myelofibrosis (PMF) cases. CALR mutations were observed in 16.6% of essential thrombocythemia and 13.3% of PMF patients. In addition to the common type 2 mutation, we identified a rarely reported type 2-like mutation (c.1154_1155insATGTC) in a PMF patient. The identified mutations were mutually exclusive. We observed an absence of JAK2 exon 12 and MPL mutations in our study participants. Conclusion: In the present study, we observed JAK2 and CALR mutations in 77.7 and 5.5%, respectively, in classical MPNs. We identified a rare CALR type 2-like mutation in a PMF patient, a first report from India.

GENETIC mutation; POLYCYTHEMIA vera; MYELOPROLIFERATIVE neoplasms; CALRETICULIN; TERTIARY care

Egyptian Journal of Haematology, 2024, Vol 49, Issue 4, p444

1110-1067

Academic Journal

10.4103/ejh.ejh_63_24