Myeloproliferative Neoplasms

Myeloproliferative Neoplasms (also known as Myeloproliferative Disorders (MPD) are a group of diseases involving myeloid precursors in the bone marrow. These disorders include Chronic Myelogenus Leukemia (CML), Essential Thrombocythemia (ET), Polycythemia Vera (PV), Myelofibrosis (MF), and others. The identification of specific genetic abnormalities can aid in the classification and associated prognosis and treatment responses of the different neoplasms.1


Molecular Assays:

BCR-ABL: Presence of the BCR-ABL translocation is an indication of CML. The BCR-ABL fusion is found in 95% of CML cases and is associated with a very poor prognosis. Detection of the BCR-ABL translocation aids researchers in the classification of disease, prognosis, response to treatment, and the assessment of minimal residual disease (MRD).2,3,4

MPL (W515K): Detection of the JAK2 V617F mutation is an aid in the classification of MPN. A less frequent mutation found in MPN disorders is the MPLW515L or MPLW515K mutations. Researchers have discovered that MPLW515L or MPLW515K mutations are present in patients with MF or ET at a frequency of approximately 5% and 1%, respectively, but are not observed in patients with polycythemia Vera (PV) or other myeloid disorders.5,6


FISH Assays:

Trisomy 8: Trisomy 8 is observed in CML, PV, MF, but not ET. Trisomy 8 is the most common genetic instability associated with the progression of CML chronic phase to blast crisis.7,8

Polysomy 9: Polysomy 9 is a common abnormality observed in PV and MF but not CML.8

Order FISH Probes



    1. Michiels JJ, Bernema Z, Van Bockstaele D, De Raeve H, Schroyens W. Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF). Pathol Biol (Paris). 2007 Mar;55(2):92-104. Epub 2006 Aug 21. Review. PubMed PMID: 16919893.
    2. White HE, Matejtschuk P, Rigsby P, Gabert J, Lin F, Lynn Wang Y, Branford S, Müller MC, Beaufils N, Beillard E, Colomer D, Dvorakova D, Ehrencrona H, Goh HG, El Housni H, Jones D, Kairisto V, Kamel-Reid S, Kim DW, Langabeer S, Ma ES, Press RD, Romeo G, Wang L, Zoi K, Hughes T, Saglio G, Hochhaus A, Goldman JM, Metcalfe P, Cross NC. Establishment of the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA. Blood. 2010 Nov 25;116(22):e111-7. Epub 2010 Aug 18.
    3. WHO International Standard. 1st WHO International Genetic Reference Panel for quantitation of BCR-ABL translocation by RQ-PCR.
    4. Hughes T, et al. Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: Review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results. Blood. 2006;108:28-37.
    5. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, Steensma DP, Elliott MA, Wolanskyj AP, Hogan WJ, McClure RF, Litzow MR, Gilliland DG, Tefferi A. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006 Nov 15;108(10):3472-6. Epub 2006 Jul 25. PubMed PMID: 16868251.
    6. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A, Wernig G, Moore S, Galinsky I, DeAngelo DJ, Clark JJ, Lee SJ, Golub TR, Wadleigh M, Gilliland DG, Levine RL. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006 Jul;3(7):e270. PubMed PMID: 16834459; PubMed Central PMCID: PMC1502153.
    7. Calabretta B, Perrotti D. The biology of CML blast crisis. Blood. 2004 Jun 1;103(11):4010-22. Epub 2004 Feb 24. Review. PubMed PMID: 14982876.
    8. Atlas of genetics and cytogenetics in oncology and haematology in 2013. Huret JL, Ahmad M, Arsaban M, Bernheim A, Cigna J, Desangles F, Guignard JC, Jacquemot-Perbal MC, Labarussias M, Leberre V, Malo A, Morel-Pair C, Mossafa H, Potier JC, Texier G, Viguié F, Yau Chun Wan-Senon S, Zasadzinski A, Dessen P. Nucleic Acids Res. 2013 Jan;41(Database issue):D920-4. PMID:23161685