Myelofibrosis screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]Sabawoon Mirwais, M.B.B.S, M.D.[3]

Overview

There is insufficient evidence to recommend routine screening for myelofibrosis and there is no screening test currently available for the disease. Routine blood work can be used to check the blood cell counts which can further warrant a bone marrow biopsy.

There is insufficient evidence to recommend routine screening for myelofibrosis.
Blood cell counts can be determined and monitored for any irregularity which can then further warrant a bone marrow biopsy.
According to 2008 World Health Organization (WHO) classification of myeloproliferative neoplasms, JAK2^V617F is the most prevalent mutation with approximately 60% of the primary myelofibrosis (PMF) patients carrying this mutation. This trend is followed in frequency by the mutations in myeloproliferative leukemia virus (MPL) and calreticulin (CALR) genes.^[1]^[2]^[3]
Patients can be screened for the above mentioned mutations based on this data.

↑ Barbui T, Thiele J, Gisslinger H, Kvasnicka HM, Vannucchi AM, Guglielmelli P, Orazi A, Tefferi A (February 2018). “The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion”. Blood Cancer J. 8 (2): 15. doi:10.1038/s41408-018-0054-y. PMC 5807384. PMID 29426921.
↑ Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC (April 2005). “A gain-of-function mutation of JAK2 in myeloproliferative disorders”. N. Engl. J. Med. 352 (17): 1779–90. doi:10.1056/NEJMoa051113. PMID 15858187.
↑ Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, Harris NL, Le Beau MM, Hellström-Lindberg E, Tefferi A, Bloomfield CD (July 2009). “The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes”. Blood. 114 (5): 937–51. doi:10.1182/blood-2009-03-209262. PMID 19357394.