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Abstract
BCR-ABL negative myeloproliferative neoplasms
(MPNs) are a heterogeneous group of clonal hematopoietic disorders characterized by the overproduction of differentiated hematopoietic cells, including
polycythemia vera (PV), essential thrombocythemia
(ET), primary myelofibrosis (PMF) and prefibrotic
primary myelofibrosis (prePMF).
The WHO classification was revised in 2016 adding specific molecular findings with an impact on diagnosis and treatment. This integrates clinical, molecular and pathological criteria and provides a central role to morphological examination of the bone marrow (BM). It also discriminates between essential thrombocythemia (ET) and the prefibrotic phase of primary myelofibrosis (pre PMF).
In order to better understand this entity and to have its own population data, a retrospective cohort study was carried out at the Hospital Italiano de Buenos Aires, which included 264 patients with a diagnosis of Philadelphia-negative chronic myeloproliferative neoplasms between January 2004 and December 2017 and a pathological review of 64 patients with a diagnosis of essential thrombocythemia prior to 2016 (using the criteria of the new WHO classification).
The analysis showed that the characteristics of our population are similar to those reported in the literature, with rates of global survival and transformation similar to the global population. Regarding the review of bone marrow pathology, the diagnosis of ET was confirmed in 56% of the patients. In patients who were reclassified to PMF prefibrotic stage (44%), a higher percentage of medullary fibrosis and splenomegaly was found at diagnosis.
References
2. Grinfeld J, Nangalia J, Green AR. Molecular determinants of pathogenesis and clinical phenotype in myeloproliferative neoplasms. Hematológica. 2017;102: 7–17.
3. Guglielmelli P, Pacilli A, Rotunno G, Rumi E, Rosti V, Delaini F, et al. Presentation and outcome of patients with 2016 WHO diagnosis of prefibrotic and overt primary myelofibrosis. Blood. 2017;129: 3227–3236.
4. Rupoli S, Goteri G, Picardi P, Micucci G, Canafoglia L, Scortechini AR, et al. Thrombosis in essential thrombocytemia and early/prefibrotic primary myelofibrosis: the role of the WHO histological diagnosis. Diagn Pathol. 2015;10: 29.
5. Kim SY, Im K, Park SN, Kwon J, Kim J-A, Lee DS. CALR, JAK2, and MPL mutation profiles in patients with four different subtypes of myeloproliferative neoplasms: primary myelofibrosis, essential thrombocythemia, polycythemia vera, and myeloproliferative neoplasm, unclassifiable. Am J Clin Pathol. 2015;143: 635–644.
6. Vainchenker W, Constantinescu SN, Plo I. Recent advances in understanding myelofibrosis and essential thrombocythemia. F1000Res. 2016;5. 10.12688/f1000research.8081.1
7. Passamonti F, Elena C, Schnittger S, Skoda RC, Green AR, Girodon F, et al. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations. Blood. 2011;117: 2813–2816.
8. Passamonti F, Rumi E, Pietra D, Elena C, Boveri E, Arcaini L, et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia. 2010;24: 1574–1579.
9. Tefferi A, Lasho TL, Finke C, Belachew AA, Wassie EA, Ketterling RP, et al. Type 1 vs type 2 calreticulin mutations in primary myelofibrosis: differences in phenotype and prognostic impact. Leukemia. 2014;28: 1568–1570.
10. Tefferi A, Wassie EA, Guglielmelli P, Gangat N, Belachew AA, Lasho TL, et al. Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: A collaborative study of 1027 patients. Am J Hematol. 2014;89: E121–E124.
11. Cazzola M, Kralovics R. From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms. Blood. 2014;123: 3714–3719.
12. Coleman WB, Tsongalis GJ. Molecular Pathology: The Molecular Basis of Human Disease. Academic Press; 2017.
13. McKenney AS, Lau AN, Somasundara AVH, Spitzer B, Intlekofer AM, Ahn J, et al. JAK2/IDH-mutant–driven myeloproliferative neoplasm is sensitive to combined targeted inhibition. J Clin Invest. 2018;128: 4743–4743.
14. Kralovics R, Passamonti F, Buser AS, Teo S-S, Tiedt R, Passweg JR, et al. A Gain-of- Function Mutation ofJAK2in Myeloproliferative Disorders. N Engl J Med. 2005;352: 1779–1790.
15. Zhan H, Lin CHS, Segal Y, Kaushansky K. The JAK2V617F-bearing vascular niche promotes clonal expansion in myeloproliferative neoplasms. Leukemia. 2017;32: 462– 469.
16. Kubesova B, Pavlova S, Malcikova J, Kabathova J, Radova L, Tom N, et al. Low-burden TP53 mutations in chronic phase of myeloproliferative neoplasms: association with age, hydroxyurea administration, disease type and JAK2 mutational status. Leukemia. 2018;32: 450–461.
17. Tefferi A, Lasho TL, Tischer A, Wassie EA, Finke CM, Belachew AA, et al. The prognostic advantage of calreticulin mutations in myelofibrosis might be confined to type 1 or type 1-like CALR variants. Blood. 2014;124: 2465–2466.
18. Nangalia J, Green AR. Myeloproliferative neoplasms: from origins to outcomes. Blood. 2017;130: 2475–2483.
19. Tefferi A. Primary myelofibrosis: 2017 update on diagnosis, riskstratification, and management. Am J Hematol. 2016;91: 1262–1271.
20. Maffioli M, Mora B, Passamonti F. Polycythemia vera: from new, modified diagnostic criteria to new therapeutic approaches. Clin Adv Hematol Oncol. 2017;15: 700–707.
21. Masked polycythemia Vera (mPV): Results of an international study. Am J Hematol. 2018;93: E133.
22. Hatalova A, Schwarz J, Gotic M, Penka M, Hrubisko M, Kusec R, et al. Recommendations for the diagnosis and treatment of patients with polycythaemia vera. Eur J Haematol. 2018;10.1111/ejh.13156
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