Abstract
There are lot of grey zones in Philadelphia negative chronic myeloproliferative neoplasms (CMPNs) and that’s the reason they are in hit list of researchers. Having a spectrum of disorders their diagnosis is very important and especially to differentiate from each other since they overlap with each other in many ways. Diagnosis doesn’t start from lab but with clinical phenotype. Clinical phenotype not only able to provide us the diagnosis but also helps in management of the disease per se. When diagnosis comes, the old timer but an evergreen morphology plays an important role which along with the newer generation tool “molecular” helps in differentiating these disorders. Lot of studies have already come up from the world. Indian data has also started coming up. When we say about the Indian data nothing holds more important role than Indian Society of Haematology and Blood Transfusion, ISHBT. This small review will cover all papers with BCR-ABL negative CMPNs which were presented at the annual national conference of the ISHBT (Haematocon 2017) which was conducted at Guwahati. These abstract papers from various reputed institutes and centres will provide a short academic journey towards ongoing research activities at these places and will able to guide us regarding Philadelphia negative CMPNs and also stimulate our brain for some left or conflicted areas.
References
Hammond E, Shaw K, Carnley B, P’ng S, James I, Herrmann R (2007) Quantitative determination of JAK2 V617F by TaqMan: an absolute measure of averaged copies per cell that may be associated with the different types of myeloproliferative disorders. J Mol Diagn 9:242–248
Merker JD, Jones CD, Oh ST, Schrijver I, Gotlib J, Zehnder JL (2010) Design and evaluation of a real-time PCR assay for quantification of JAK2 V617F and wild-type JAK2 transcript levels in the clinical laboratory. J Mol Diagn 12:58–64
Denys B, El Housni H, Nollet F, Verhasselt B, Philippé J (2010) A real-time polymerase chain reaction assay for rapid, sensitive, and specific quantification of the JAK2V617F mutation using a locked nucleic acid-modified oligonucleotide. J Mol Diagn 12:512–519
Larsen TS, Pallisgaard N, Møller MB, Hasselbalch HC (2007) The JAK2 V617F allele burden in essential thrombocythemia, polycythemiavera and primary myelofibrosiseimpact on disease phenotype. Eur J Haematol 79:508–515
Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365:1054–1061 (Erratum appeared in Lancet 2005, 366: 122)
McClure R, Mai M, Lasho T (2006) Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia 20:168–171
Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase AJ, Grand FH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou EC, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, Hochhaus A, Oscier D, Silver RT, Reiter A, Cross NC (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106:2162–2168
Cankovic M, Whiteley L, Hawley RC, Zarbo RJ, Chitale D (2009) Clinical performance of JAK2 V617F mutation detection assays in a molecular diagnostics laboratory: evaluation of screening and quantitation methods. Am J Clin Pathol 132:713–721
Carillo S, Henry L, Lippert E, Girodon F, Guiraud I, Richard C, Dubois Galopin F, Cleyrat C, Jourdan E, Kralovics R, Hermouet S, Lavabre-Bertrand T (2011) Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of JAK2 exon 12 mutations-clinical relevance in the monitoring of polycythemia. J Mol Diagn 13:263–270
Murugesan G, Aboudola S, Szpurka H, Verbic MA, Maciejewski JP, Tubbs RR, Hsi ED (2006) Identification of the JAK2 V617F mutation in chronic myeloproliferative disorders using FRET probes and melting curve analysis. Am J Clin Pathol 125:625–633
Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S, Beran M, Estey E, Kantarjian HM, Issa JP (2005) JAK2 mutation 1849G > T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 106:3370–3373
Shepard GC, Lawson HL, Hawkins GA, Owen J (2011) BsaXI/RFLP analysis of initial or selectively reamplified PCR product is unreliable in detecting the V617F mutation in JAK2. Int J Lab Hematol 33:267–271
Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D’Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemiavera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7:387–397
Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC (2005) Again-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352:1779–1790
James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, Garçon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434:1144–1148
Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365:1054–1061 (Erratum in Lancet 2005, 366: 122)
Furtado LV, Weigelin HC, Elenitoba-Johnson KSJ, Betz BL (2013) Detection of MPL mutations by a novel allele-specific PCR-based strategy. J Mol Diagn 15(6):810–818
Thangavelu H, Kumar AA, Kulkarni U, Devasia A, Korula A, Nisham PN et al (2017) Comparison of direct sequencing and allele specific PCR assay for detection of MPL mutations in essential thrombocythemia and primary myelofibrosis patients. Indian J Hematol Blood Transfus 33(Suppl 1):S1–S126
Pati HP, Sharma P (2016) Myeloproliferative neoplasms, an acquired thrombophilic state: JAK2 and beyond. Indian J Hematol Blood Transfus 32(3):245–247
Elliott MA, Tefferi A (2005) Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol 128:275–290
Barbui T, Finazzi G, Carobbio A, Thiele J, Passamonti F, Rumi E, Ruggeri M, Rodeghiero F, Randi ML, Bertozzi I, Gisslinger H, Buxhofer-Ausch V, De Stefano V, Betti S, Rambaldi A, Vannucchi AM, Tefferi A (2012) Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis). Blood 120:5128–5133
Borowczyk M, Wojtaszewska M, Lewandowski K, Gil L, Lewandowska M, Lehmann-Kopydłowska A, Kroll-Balcerzak R, Balcerzak A, Iwoła M, Michalak M, Komarnicki M (2015) The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboembolic events in patients with Philadelphia-negative myeloproliferative neoplasms. Thromb Res 135:272–280
Marchetti M, Castoldi E, Spronk HM, van Oerle R, Balducci D, Barbui T, Rosing J, Ten Cate H, Falanga A (2008) Thrombin generation and activated protein C resistance in patients with essential thrombocythemia and polycythemia vera. Blood 112:4061–4068
Barbui T, Finazzi G, Falanga A (2013) Myeloproliferative neoplasms and thrombosis. Blood 122:2176–2184
Falanga A, Marchetti M (2012) Thrombotic disease in the myeloproliferative neoplasms. Hematol Am Soc Hematol Educ Program 2012:571–581
Singh K, Sazawal S, Sharma A, Chikkara S, Chaubey R, Kishor K, Mahapatra M, Saxena R Impact of combined JAK2 V617F mutation and the inherited thrombophilic factors on thrombotic risk in CMPNs: AIIMS experience. ISHBT Guwahati 2017
Zhao S, Zhang X, Xu Y, Feng Y, Sheng W, Cen J, Wu D, Han Y (2016) Impact of JAK2 V617F mutation burden on disease phenotype in Chinese patients with JAK2 V617F-positive polycythemia vera (PV) and essential thrombocythemia (ET). Int J Med Sci 13:85–89
Sazawal S, Singh K, Chikkara S, Kumar D, Chaubey R, Mahapatra M (2017) Saxena R Influence of JAK2 V617F allele burden on clinical phenotype of polycythemia vera patients: AIIMS experience. ISHBT, Guwahati
Vannucchi AM, Pieri L, Guglielmelli P (2011) JAK2 allele burden in the myeloproliferative neoplasms: effects on phenotype, prognosis and change with treatment. Ther Adv Hematol. 2(1):21–32
Tahlan A, Yadav S, Palta A (2017) Clinico-pathological spectrum of myeloneoproliferative neoplasm. Government Medical College & Hospital, Chandigarh, ISHBT, Guwahati
Tanya, Basu D, Kar R (2017) Pathological spectrum of myeloproliferative neoplasm. Megakaryocyte morphology and morphometry in philadelphia negative myeloproliferative neoplasms—JIPMER experience, ISHBT, Guwahati
Vytrva N, Stacher E, Regitnig P, Zinke-Cerwenka W, Hojas S, Hubmann E, Porwit A, Bjorkholm M, Hoefler G, Beham-Schmid C (2014) Megakaryocytic morphology and clinical parameters in essential thrombocythemia, polycythemia vera, and primary myelofibrosis with and without JAK2 V617F. Arch Pathol Lab Med 138:1203–1209
Thiele J, Funke S, Holgado S, Choritz H, Georgii A (1984) Megakaryopoiesis in chronic myeloproliferative diseases: a morphometric evaluation with special emphasis on primary thrombocythemia. Anal Quant Cytol 6(3):155–167
Thiele J, Schneider G, Hoeppner B, Wienhold S, Zankovich R, Fischer R (1988) Histomorphometry of bone marrow biopsies in chronic myeloproliferative disorders with associated thrombocytosis–features of significance for the diagnosis of primary (essential) thrombocythaemia. Virchows Arch A Pathol Anat Histopathol 413(5):407–417
Gianelli U, Iurlo A, Vener C et al (2008) The significance of bone marrow biopsy and JAK2 V617F mutation in the differential diagnosis between the ‘‘early’’ prepolycythemic phase of polycythemiavera and essential thrombocythemia. Am J Clin Pathol 130(3):336–342
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflicts of interest.
Ethical Approval
Not sought/required as this review article does not contain any studies with human participants performed by any of the authors.
Rights and permissions
About this article
Cite this article
Chatterjee, T., Ahuja, A. Summary and Review of the Abstracts on Philadelphia-Negative Myeloproliferative Neoplasms Presented at Haematocon 2017. Indian J Hematol Blood Transfus 34, 227–232 (2018). https://doi.org/10.1007/s12288-017-0913-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12288-017-0913-x