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JAK 2 negative Polycythemia vera in tertiary care center in West | 60549
Journal of Hematology & Thromboembolic Diseases

Journal of Hematology & Thromboembolic Diseases
Open Access

ISSN: 2329-8790

JAK 2 negative Polycythemia vera in tertiary care center in West UP population in India :A rare presentation of 3 cases


2nd World Congress on HEMATOLOGY AND GENETIC BLOOD DISORDERS

July 11, 2022 | Webinar

Neema Tiwari

Swami Vivekanand Subharti University, India

Scientific Tracks Abstracts: J Hematol Thromb Dis

Abstract :

Polycythaemia vera (PV) belongs to the group of myeloproliferative neoplasms with excessive increase in hemoglobin levels. They are clinically characterized by nonspecific symptoms such as fatigability, pruritus, early satiety due to splenomegaly, increased risk of infections, and thrombotic events. JAK2 V617F mutation present in 80-90% of MPNs and JAK2 exon12 mutations are seen in 4%-5% cases of MPNs like PV. Activation of JAK2 by either point mutation or fusion protein causes activation of the JAK-STAT pathway. While mutations in JAK2 are reported in numerous MPN phenotypes, exon 12 mutations specifically result in erythrocytosis due to increased EPO signaling. Conclusion: All three cases that presented to the department had been undiagnosed for 2-3 months before they reached our setup. The unique feature of all these cases was negativity for both JAK2V617F as well as JAK2 exon 12 mutation despite its clinical behavior being that of PV .These cases are being actively managed as low risk polycythemia vera and since the start of the treatment comprising of phlebotomy once very 3 months their hemoglobin and hematocrit concentrations are maintained. No cytoreductive therapy is being given .Such unique presentations need to be reported and discussed extensively

Biography :

Neema Tiwari did her MBBS and MD in Pathology in Pathology from Eras Lucknow Medical college and Hospital, She is has worked as Senior Resident, Pathology in department of clinical hematology and hemato-oncology, King George Medical University, India and Post Graduate Institute of Child Health Noida, UP and has 4 years post PG experience. She is currently working as Assistant Professor in Subharti Medical College Meerut. She has done numerous intra-mural and extramural (ICMR,DST)research projects and has many national and international publications in indexed and peer reviewed journals(>40) to her credit. She is a reviewer for 3 journals to of which are pubmed indexed. She has presented papers in IAP,ICC and CAP conferences. She has recently presented a poster on MDS in the ISHBT-EHS TUTORIAL-2018 held in India.

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