Novel European Asiatic Clinical, Laboratory, Molecular and Pathobiological (2015-2020 CLMP) criteria for JAK2V617F trilinear polycythemia vera (PV), JAK2exon12 PV and JAK2V617F, CALR and MPL515 thrombocythemias: From Dameshek to Constantinescu-Vainchenker, Kralovics and Michiels
Jan Jacques Michiels*, King H Lam, Fibo Ten Kate, Dong-Wook Kim, Myungshin Kim, Vasily Shuvaev, Francisca Valster, Vincent Potters, Wilfried Schroyens, Mihaela Andreescu, Adrian Trifa, Achille Pich and Hendrik De Raeve
The Myeloproliferative Neoplasms (MPN) of trilinear polycythemia vera (PV) and megakaryocytic leukemia (ML = primary megakaryocytic granulocytic myeloproliferation: PMGM) and Essential Thrombocythemia (ET) in the studies of Dameshek and Michiels are caused by the MPN driver mutations JAK2V617F, JAK2exon12, CALR and MPL515 discovered by Constantinescu-Vainchenker, Green and Kralovics. The JAK2V617F mutated trilinear myeloproliferative neoplasms (MPN) include a broad spectrum of clinical laboratory and bone marrow features in essential thrombocythemia (ET), prodromal PV and erythrocythemic PV, classical PV and advanced stages of masked PV and PV complicated by splenomegaly and secondary myelofibrosis (MF). Heterozygous JAK2V617F mutated ET is associated with low JAK2 allele and MPN disease burden and normal life expectance. In combined heterozygous and homozygous or homozygous JAK2V617F mutated trilinear PV, the JAK2 mutation load increases from less than 50% in prodromal PV and classical PV to above 50% up to 100% in hypercellular PV, advanced PV and PV with MF. Bone marrow histology show diagnostic features of eryhrocytic, megakaryocytic and granulocytic (EMG) myeloproliferation in JAK2V617F mutated trilinear MPN, which clearly differs from monolinear megakaryocytic (M) myelproliferation in MPL and CALR thrombocythemia and dual megakaryocytic granulocytic (MG) myeloproliferation in CALR mutated thrombocythemia. The morphology of clustered large pleomorphic megakaryocytes with hyperlobulated nuclei are similar in JAK2V617F thrombocythemia, prodromal PV and classical PV patients. Monolinear megakaryocytic (M) myeloproliferation of large to giant megakaryocytes with hyperlobulated staghorn-like nuclei is the hallmark of MPL515 mutated normocellular thrombocythemia. CALR mutated thrombocythemia usually presents with high platelet count around 1000x109/l and normocellular megakaryocytic (M) proliferation of immature megakaryocytes with cloud-like hyperchromatic nuclei followed by dual megakaryocytic granulocytic (MG) myeloproliferation followed by various degrees of bone marrow fibrosis. Natural history and life expectancy of MPN patients are related to the response to treatment and the degree of anemia, splenomegaly, myelofibrosis and constitutional symptoms. The acquisition of epigenetic mutations at increasing age on top of MPN disease burden independently predict unfavorable outcome in JAK2V617F, MPL515 and CALR mutated myeloproliferative neoplasms (MPNs, which mutually exclude each other).
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Kim Y, Park J, Jo I, Lee GD, Kim J, et al. Genetic-pathologic characterization of myeloproiferative neoplasms. Exp Mol Med. 2016; 48: 247. PubMed: https://pubmed.ncbi.nlm.nih.gov/27444979
Vannucchi AM, Antonioli E, Guglielmelli P, Pancrazzi A, Guerini V, et al. Charateristics and clinical correlates of MPL515W>L/K mutation in essential thrombocythemia. Blood. 2008; 112: 844-847. PubMed: https://pubmed.ncbi.nlm.nih.gov/18519816/
Beer PA, Campbell PJ, Scott LM. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood. 2008; 112: 141-149. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/18451306
Jones AV, Campbell PJ, Beer PA, Schnittger, Vannucchi AM, et al. The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms. Blood. 2010; 115: 4517-4523. PubMed: https://pubmed.ncbi.nlm.nih.gov/20304805/
Michiels JJ, Berneman Z, Schroyens W, KuttiJ, Swolin B, et al. Philadelphia (Ph) chromosome positive thrombocythemia without features of chronic myeloid leukemia in peripheral blood and bone marrow: natural history and diagnostic differentiation from Ph-negative essential thrombocythemia. Ann Hematol. 2004; 83: 504-512. PubMed: https://pubmed.ncbi.nlm.nih.gov/15164229/
Klampf T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, et al. Somatic mutations od calreticulin in myeloproliferative neoplasms. N Eng J Med. 2013; 369: 2379-2387. PubMed: https://pubmed.ncbi.nlm.nih.gov/24325356/
Nangalia J, Massie CE, Baxter J, Nice FL, Gundem G, et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. Leukemia. 2014; 28: 1472-1477. PubMed: https://pubmed.ncbi.nlm.nih.gov/24402162/
Rotunno G, Mannarelli C, Guglielmielli P, Pacilli A, Pancrazzi A, et al. Impact of calreticulin mutations on clinical and haematological phenotype and outcome in essential thrombocthemia. Blood. 2014; 123: 1552-1555. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/24371211
Andrikovics H, Krahling T, Balassa K, Halm G, Bors A, et al. Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations. Haematologica. 2014; 99: 1184-1190. PubMed: https://pubmed.ncbi.nlm.nih.gov/24895336/
Thiele J, Kvasnicka HM, Facchetti F, Franco V, Van Der Walt J Orazi A. European consensus for grading bone marrow fibrosis and assessment of cellularity in myeloproliferative disorders. Haematologica. 2005; 90: 1128-1132. PubMed: https://pubmed.ncbi.nlm.nih.gov/16079113/
Kiladjian JJ, Cassinat B, Turlure P, Cambier N, Roussel M, et al. High molecular response rate of polycythemia vera treated with peglyated interpheron-alpha-2a. Blood. 2006; 108: 2037-2040. PubMed: https://pubmed.ncbi.nlm.nih.gov/16709929/
Larssen TS, Moeller MB, de Striker K, Peter Nørgaard, Jan Samuelsson, et al. Minimal residual disease and normalization of the bone marrow after longterm treatment with alfa-interferon2b in polycythemia vera. A report on molecular responses in seven patients in sustained complete hematological remission. Hematology. 2009; 14: 331-334. PubMed: https://pubmed.ncbi.nlm.nih.gov/19941739/
Verger E, Cassinat B, Chauveau A, Dosquet C, Giradier S, et al. Clinical and moelucular response to interferon-alpha therapy in essential thrombocythemia patients with CALR mutations. Blood. 2015; 126: 2585-2691. PubMed: https://pubmed.ncbi.nlm.nih.gov/26486786/
Wilkins BS, Erber WN, Bareford D, Buck G, Wheatley K, et al. Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood. 2008; 111: 60-70. PubMed: https://pubmed.ncbi.nlm.nih.gov/17885079/
James C, Delhommeau F, Marzac C, Teyssandier I, Le Couédic JP, et al. Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia. 2006; 20: 350-353. PubMed: https://pubmed.ncbi.nlm.nih.gov/16341032/
Cassinat B, verger E, Kiladjian JJ. Interferon alpha therapy in CALR-mutated essential thrombocythemia. N Eng J Med. 2014; 371: 188-189. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/25006741
Juvonen E, Ikkala E, Fyrquist F, Ruutu T. Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. Blood. 1991; 78: 3066-3069. PubMed: https://pubmed.ncbi.nlm.nih.gov/1954391/
De La Chapelle A, Traskelin AL, Juvonen E. Truncated erythropietin receptor causes doinantly inheritedbenign erythrocytosis. Proc Natl Acad Sci USA. 1993; 90: 4495-4499. PubMed: https://pubmed.ncbi.nlm.nih.gov/8506290/
Lacout C, Pisani DF, Tulliez M, Gachelin FM, Vainchenker W, et al. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood. 2006; 108: 1652-1660. PubMed: https://pubmed.ncbi.nlm.nih.gov/16670266/
Quintas-Cardama A, Kantarjian H, Manshouri T, Rajyalakshmi Luthra, Zeev Estrov, et al. Peglyated interferon alfa-2a yields high rates of hematological and molecular response in patients with advanced essential thrombocthemia and polycythemia vera. J Clin Oncol. 2009; 27: 5418-5424. PubMed: https://pubmed.ncbi.nlm.nih.gov/19826111/
Vannucchi AM, Papaemmanuil E, Campbell PJ, and Green AR. Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2. N Eng J Med. 2013; 369: 2391-2405. PubMed: https://pubmed.ncbi.nlm.nih.gov/24325359/
2001 WHO classification of the chronic myeloproliferative diseases (CMPD) polycythemia vera, chronic idiopathic myelofibrosis essential thrombocythemia and cMPD unclassifiable. In: Jaffe SS, Harris NL, Stern A, Vardiman JW eds. WHO classification of Tumours of haematopoiesis and lymphoid tissues. Lyon, France IARC; 2001; 31-42.
Jan Jacques Michiels*, Zwi Berneman, Wilfried Schroyens, Fibo W J ten Kate, King Lam and Hendrik De RaeveJan Jacques Michiels*,Zwi Berneman,Wilfried Schroyens,Fibo W J ten Kate,King Lam,Hendrik De Raeve. European Clinical Laboratory, Molecular and Pathological (ECMP) criteria for prefibrotic JAK2V617F-Thrombocythemia and Polycythemia Vera versus MPL515- and CALR-Thrombocythemia and Myelofibrosis: From Dameshek to Michiels 1950-2018. . 2019 doi: 10.29328/journal.ijbmr.1001002; 2: 001-017
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Jan Jacques Michiels* and Hendrik De RaeveJan Jacques Michiels*,Hendrik De Raeve. The PVSG/WHO versus the Rotterdam European clinical, molecular and pathological diagnostic criteria for the classification of myeloproliferative disorders and myeloproliferative neoplasms (MPD/MPN): From Dameshek to Georgii, Vainchenker and Michiels 1950-2018. . 2019 doi: 10.29328/journal.ijbmr.1001004; 2: 027-050
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Jan Jacques Michiels*, King H Lam, Fibo Ten Kate, Dong-Wook Kim, Myungshin Kim, Vasily Shuvaev, Francisca Valster, Vincent Potters, Wilfried Schroyens, Mihaela Andreescu, Adrian Trifa, Achille Pich and Hendrik De RaeveJan Jacques Michiels*,King H Lam,Fibo Ten Kate,Dong-Wook Kim,Myungshin Kim,Vasily Shuvaev,Francisca Valster,Vincent Potters,Wilfried Schroyens,Mihaela Andreescu,Adrian Trifa,Achille Pich,Hendrik De Raeve. Novel European Asiatic Clinical, Laboratory, Molecular and Pathobiological (2015-2020 CLMP) criteria for JAK2V617F trilinear polycythemia vera (PV), JAK2exon12 PV and JAK2V617F, CALR and MPL515 thrombocythemias: From Dameshek to Constantinescu-Vainchenker, Kralovics and Michiels. . 2020 doi: 10.29328/journal.ijbmr.1001011; 3: 001-020
Sudeep Navule Siddappa*, Kavitha Chikknayakanahalli Venugopal, Pavana Acharya and Tintu Susan Joy Sudeep Navule Siddappa*,Kavitha Chikknayakanahalli Venugopal,Pavana Acharya ,Tintu Susan Joy . Retinopathy of prematurity - Intersibling divergence of risk factors among twins. Int J Clin Exp Ophthalmol. 2020: doi: 10.29328/journal.ijceo.1001026; 4: 009-011
Linda Guerrero*Linda Guerrero*. Other Applications of Amniotic Membranes: Case Series. Arch Case Rep. 2024: doi: 10.29328/journal.acr.1001117; 8: 159-162
H Pérez-Aguilar*, M Lacruz-Asaro and F Arán-AisH Pérez-Aguilar*, M Lacruz-Asaro, F Arán-Ais. Evaluation of Biostimulants Based on Recovered Protein Hydrolysates from Animal By-products as Plant Growth Enhancers. J Plant Sci Phytopathol. 2023 doi: 10.29328/journal.jpsp.1001104; 7: 042-047
Julian A Purrinos* and Ramzi YounisJulian A Purrinos*, Ramzi Younis. Sinonasal Myxoma Extending into the Orbit in a 4-Year Old: A Case Presentation. Arch Case Rep. 2024 doi: 10.29328/journal.acr.1001099; 8: 075-077
Denis Tonini, Kai Wu, Renata Saha and Jian-Ping Wang*Denis Tonini,Kai Wu,Renata Saha,Jian-Ping Wang*. Feasibility study of magnetic sensing for detecting single-neuron action potentials. Ann Biomed Sci Eng. 2022 doi: 10.29328/journal.abse.1001018; 6: 019-029
Khashayar Maroufi*Khashayar Maroufi*. Physical activity can change the physiological and psychological circumstances during COVID-19 pandemic: A narrative review. J Sports Med Ther. 2021 doi: 10.29328/journal.jsmt.1001051; 6: 001-007
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