Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF)

Pathologie Biologie - Tập 55 - Trang 92-104 - 2007
J.J. Michiels1,2, Z. Bernema1, D. Van Bockstaele3, H. De Raeve4, W. Schroyens1
1Department of Hematology, University Hospital Antwerp Wilrijkstraat 10, 2650 Edegem/Antwerp, Belgium
2Goodheart Institute, Hematology, Hemostasis and Thrombosis Research Center, Rotterdam, MPD Center Europe, Erasmus Tower, Veenmos 13, 3069 AT Rotterdam, The Netherlands
3Department of Molecular Genetics, University Hospital Antwerp, Antwerp, Belgium
4Department of Pathology, University Hospital Antwerp, Antwerp, Belgium

Tài liệu tham khảo

Dameshek, 1950, Physiopathology and course of polycythemia vera as related to therapy, J Am Ass Med, 142, 790, 10.1001/jama.1950.02910290018005 James, 2005, JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects, Trends Mol Med, 10.1016/j.molmed.2005.10.003 Wasserman, 1954, Polycthemia vera, its course and treatment: relation to myeloid metaplasia and leukemia, Bull. N. Y. Acad. Med., 30, 343 Wasserman, 1995 Pearson, 1979, The course and complications of idiopathic erythrocytosis, Clin. Lab. Haematol., 1, 189, 10.1111/j.1365-2257.1979.tb00467.x Najean, 1981, Pure erythrocytosis: reappraisal of a study of 51 patients, Am. J. Hematol., 10, 129, 10.1002/ajh.2830100204 Glaser, 1969, Transitions among the myeloproliferative disorders, Ann. Intern. Med., 71, 285, 10.7326/0003-4819-71-2-285 Burkhardt R., Bartl R., Jaeger K., Frisch B., Kettner G., Mahl G., Sund M. Chronic myeloproliferative disorders. Path Res Pract 1084;179:131-186. Georgii, 1980, Chronic megakaryocytic granulocytic myelosis: CMGM, Virch Arch A Path Anat Histol, 389, 253, 10.1007/BF00430654 Georgii, 1990, Chronic myeloproliferative disorders in bone marrow biopsies, Path Res Pract, 186, 3, 10.1016/S0344-0338(11)81008-3 Georgii, 1996, Classification and staging of Ph-negative myeloproliferative disorders by histopathology from bone marrow biopsies, Leuk. Lymphoma, 22, 15, 10.3109/10428199609074357 Georgii, 1998, The histopathology of chronic myeloproliferative diseases, Bailière’s Clin Haematol, 11, 721, 10.1016/S0950-3536(98)80036-X Thiele, 1977, Chronic megakaryocytic granulocytic myelosis: An electron microscopic study. Megakaryocytes and thrombocytes, Virch Arch, 373, 191, 10.1007/BF00432237 Thiele, 1983, Density distribution and size of megakaryocytes in inflammatory reactions of the bone marrow (myelitis) and chronic myeloproliferative disorders, Scand. J. Haematol., 31, 329, 10.1111/j.1600-0609.1983.tb00661.x Thiele, 1988, Primary (essential) thrombocythemia versus polycythemia vera rubra. A histomorphometric analysis of bone marrow features in trephine biopsies, Analyt Quat Cytol Histol, 10, 375 Thiele, 1989, Primary (essential) thrombocythemia versus hyperplastic stages of agnogenic myeloid metaplasia with thrombocytosis: a critical evaluation of clinical and histomorphological data, Acta Haematol., 81, 192, 10.1159/000205560 Thiele, 1990, Megakaryocyte precursors (pro- and megakaryoblasts) in bone marrow tissue from patients with reactive thrombocytosis, polycythemia vera and primary (essential) thrombocythemia, Virch Arch, 58, 295, 10.1007/BF02890084 Thiele, 1996, Idiopathic primary osteo-myelofibrosis: A clinico-pathological study on 208 patients wit special emphasis on evolution of disease features, differentiation from essential thrombocythemia and variables of prognostic impact, Leuk. Lymphoma, 22, 303, 10.3109/10428199609051762 Michiels, 1996, The myeloproliferative disorders. An historical appraisal and personal experiences, Leuk. Lymphoma, 22, 1, 10.3109/10428199609074356 Michiels, 1997, Diagnostic criteria of the myeloproliferative disorders (MPD) essential thrombocythemia, polycythemia vera and chronic megakaryocytic granulocytic metaplasia, Neth. J. Med., 51, 57, 10.1016/S0300-2977(97)00018-1 Michiels, 1997, Proposal for revised diagnostic criteria of essential thrombocythemia and polycythemia vera by the Thrombocythemia Vera Study Group, Semin Thromb Hemostas, 23, 339, 10.1055/s-2007-996107 Thiele, 1999, Histochemistry and morphometry on bone marrow biopsies in chronic myeloproliferative disorders: aids to diagnosis and classification, Ann Hematol, 78, 495, 10.1007/s002770050546 Thiele, 1999, Clinicopathological diagnosis and differential criteria of thrombocythemias in various myeloproliferative disorders by histopathology, histochemistry and immunostaining from bone marrow biopsies, Leuk. Lymphoma, 33, 207, 10.3109/10428199909058421 2001, 31 Michiels, 2002, Clinical and pathological criteria for the diagnosis of essential thrombocythemia, polycythemia vera and idiopathic myelofibrosis (agnogenic myeloid metaplasia), Int. J. Hematol., 76, 133, 10.1007/BF02982575 Michiels, 2004, Bone marrow histopathology and biological markers as specific clues to the differential diagnosis of essential thrombocythemia, polycythemia vera and prefibrotic or fibrotic myeloid metaplasia, Hematol. J., 5, 93, 10.1038/sj.thj.6200368 Thiele, 1999, Initial (prefibrotic) stages of idiopathic (primary) myelofibrosis (IMF): a clinicopathological study, Leukemia, 13, 1741, 10.1038/sj.leu.2401553 Thiele, 2000, Relevance of bone marrow features in the differential diagnosis between essential thrombocythemia and early stage idiopathic myelofibrosis, Haematlogica, 85, 1126 Thiele, 2001, Clinical and morphological criteria for the diagnosis of prefibrotic idiopathic (primary) myelofibrosis, Ann. Hematol., 80, 160, 10.1007/s002770000278 Thiele, 2002, Early stage idiopathic (primary) myelofibrosis: current issues of diagnostic features, Leuk. Lymphoma, 43, 1036, 10.1080/10428190290021542 Thiele, 2003, Diagnostic differentiation of essential thrombocythemia from thrombocythemia associated with chronic idiopathic myelofibrosis by discriminate analysis of bone marrow features, Histol. Histopathol., 18, 93 Thiele, 2003, Dynamics of fibrosis in chronic idiopathic (primary) myelofibrosis during therapy: a follow-up on 308 patients, Leuk. Lymphoma, 44, 949, 10.1080/1042819031000077070 Thiele, 2003, Chronic myeloproliferative disorders with thrombocythemia: a comparative study of two classifications systems (PVSG-WHO) on 839 patients, Ann. Hematol., 82, 148, 10.1007/s00277-002-0604-y Thiele, 2004, Prefibrotic chronic myelofibrosis – a diagnostic enigma?, Acta Haematol., 111, 155, 10.1159/000076524 Thiele, 2005, Standadization of bone marrow features—does it work in hematopathology for histological discrimination of different disease patterns?, Histopathol, 20, 633 Thiele, 2005, Bone marrow histopathology in myeloproliferative disorders—current diagnostic approacj, Semin. Hematol., 42, 184, 10.1053/j.seminhematol.2005.05.020 Laszlo, 1975, Myeloproliferative disorders (MPD): myelofibrosis, myelosclerosis, extramedullary hematopoiesis, undifferentiated MPD and hemorrhagic thrombocythemia, Semin. Hematol., 12, 409 Murphy, 1986, Essential thrombocythemia: an interim report from the Polycythemia Vera Study Group, Semin. Hematol., 23, 177 Berlin, 1975, Diagnosis and classification of the polycythemias, Sem Hematol, 12, 339 Thiele, 2001, The value of bone marrow histopathology for the differentiation between early stage polycythemia vera and secondary (reactive) polycythemias, Haematologica, 86, 368 Thiele, 2001, Polycythemia rubra vera versus secondary polycythemias. A clinicopathological evaluation of distinctive features in 199 patients, Pathol. Res. Pract., 197, 77, 10.1078/0344-0338-5710013 Thiele, 2005, Bone marrow features of diagnostic impact in erythrocytosis, Ann Haematol, 84, 362, 10.1007/s00277-005-1030-8 Thiele, 2005, Initial (latent) polycythemia vera with thrombocytosis mimicking essential thrombocythemia, Acta Haematol., 113, 213, 10.1159/000084673 Thiele, 2005, Diagnostic impact of bone marrow histopathology in polycythemia vera (PV), Histol Histpathol, 20, 317 Tefferi, 2003, Polycythemia vera: a comprehensive review and clinical recommendations, Mayo Clin. Proc., 78, 174, 10.4065/78.2.174 McMullin, 2005, Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis, Br. J. Haematol., 130, 174, 10.1111/j.1365-2141.2005.05535.x De Stefano, 1997, Spontaneous erythroid colony formation as the clue to an underlying myeloproliferative disorder in Budd-Chiari syndrome or portal vein thrombosis, Semin Thromb Hemostas, 23, 411, 10.1055/s-2007-996117 Chait, 2005, Relevance of the criteria commonly used to diagnose myeloproliferative disorders in patients with splanchnic vein thrombosis, Br. J. Haematol., 129, 553, 10.1111/j.1365-2141.2005.05490.x Liu, 2003, Discrimination of polycythemias and thrombocythemias by novel, simple accurate clonality assays and comparison with PRV-1 expression and BFU:E response to erythropoietin, Blood, 101, 3294, 10.1182/blood-2002-07-2287 Shih, 1994, Identification of masked polycythemia vera from patients with idiopathic marked thrombocytosis by endogenous erythroid colony assay, Blood, 83, 744, 10.1182/blood.V83.3.744.744 Westwood, 1996, Diagnostic applications of haematopoietic progenitor culture techniques in polycythaemias and thrombocythaemias, Leuk. Lymphoma, 22, 95, 10.3109/10428199609074366 Dobo, 2004, Standardization and comparison of endogenous erythroid colony assays performed with bone marrow or blood progenitors for the diagnosis of polycythemia vera, Hematol. J., 5, 161, 10.1038/sj.thj.6200344 Florensa, 2004, Endogenous erythroid and megakaryocytic circulating progenitors, HUMARA clonality assay, and PRV-1 expression are useful tools for diagnosis of polycythemia vera and essential thrombocythemia, Blood, 103, 2427, 10.1182/blood-2003-10-3502 Messinezy, 2002, Serum erythropoietin values in erythrocytosis and in primary thrombocythaemia, Br. J. Haematol., 117, 47, 10.1046/j.1365-2141.2002.03386.x Cotes, 1986, Determination of serum immunoreactive erythropoietin in the investigation of erythrocytosis, N. Engl. J. Med., 315, 283, 10.1056/NEJM198607313150503 Birgegard, 1992, Serum erythropoietin in the diagnosis of polycythemia and after phlebotomy treatment, Br. J. Haematol., 81, 603, 10.1111/j.1365-2141.1992.tb02999.x Messinezy, 1995, Low serum erythropoietin: a strong diagnostic criterion of primary polycythaemia even at normal haemoglobin levels, Clin. Lab. Haematol., 17, 217 Carneskog, 1998, Plasma erythropoietin by high-detectability immunoradiometric assay in untreated patients with polycythemia vera and essential thrombocythemia, Eur. J. Haematol., 60, 278, 10.1111/j.1600-0609.1998.tb01040.x Griesshammer, 2000, Serum erythropoietin and thrombopoietin levels in patients with essential thrombocythemia, Leuk. Lymphoma, 36, 533, 10.3109/10428190009148401 Mossuz, 2004, 1194 Temerinac, 2000, Cloning of PRV-1, a novel member of the uPAR receptor superfamily, which is over expressed in polycythemia rubra vera, Blood, 95, 2569, 10.1182/blood.V95.8.2569 Pahl, 2000, Towards a molecular understanding of polycythemia rubra vera, Eur. J. Biochem., 267, 3395, 10.1046/j.1432-1327.2000.01352.x Klippel, 2001, Quantification of PRV-1 expression, a molecular marker for the diagnosis of polycythemia vera, Blood, 98, 470a Pahl, 2002, Polycythaemia vera: will new markers help us answer old questions?, Acta Haematol., 108, 120, 10.1159/000064709 Johanson, 2003, The presence of a significant association between elevated PRV-1 mRNA expression and low plasma erythropoietin concentration in essential thrombocythemia, Eur. J. Haematol., 70, 358, 10.1034/j.1600-0609.2003.00079.x Griesshammer, 2004, PRV-1 mRNA expression discriminates two types of essential thrombocythemia, Ann. Hematol., 83, 364, 10.1007/s00277-004-0864-9 Juvonen, 1993, Megakaryocyte and erythroid colony formation in essential thrombocythemia and reactive thrombocytosis: diagnostic value and correlation to complications, Br. J. Haematol., 83, 192, 10.1111/j.1365-2141.1993.tb08271.x Florensa, 1995, Endogenous megakaryocyte and erythroid colony formation from blood in essential thrombocythemia, Leukemia, 9, 271 Jantunen, 1998, Essential thrombocythemia at diagnosis: causes of diagnostic evaluation and presence of positive diagnostic findings, Ann. Hematol., 77, 101, 10.1007/s002770050423 Reilly, 1994, Pathogenesis of idiopathic myelofibrosis: present status and future directions, Br. J. Haematol., 88, 1, 10.1111/j.1365-2141.1994.tb04969.x Tefferi, 1995, Agnogenic myeloid metaplasia, Semin. Hematol., 22, 327 Barosi, 1999, The Italian consensus conference on diagnostic criteria for myelofibrosis with myeloid metaplasia, Br J Haematol, 104, 730, 10.1046/j.1365-2141.1999.01262.x Barosi, 1999, Myelofibrosis with myeloid metaplasia: diagnostic definition and prognostic classification for clinical studies and treatment guidelines, J. Clin. Oncol., 17, 2954, 10.1200/JCO.1999.17.9.2954 Tefferi, 2000, Myelofibrosis with myeloid metaplasia, N. Engl. J. Med., 342, 1255, 10.1056/NEJM200004273421706 Dingli, 2004, Myelofibrosis with myeloid metaplasia: new developments in pathogenesis and treatment, Intern. Med., 43, 540, 10.2169/internalmedicine.43.540 Thiele, 2005, Bone marrow CD34+ progenitor cells in Philadelphia chromosome-negative chronic myeloproliferative disorders: a clinicopathological study on 575 patients, Leuk. Lymphoma, 46, 709, 10.1080/10428190500046554 Florena, 2004, Value of bone marrow biopsy in the diagnosis of essential thrombocythemia, Haematologica, 89, 911 Bauermeister, 1971, Quantification of bone marrow reticulin, Am. J. Clin. Pathol., 56, 24, 10.1093/ajcp/56.1.24 Manoharan, 1982, Prognostic factors in myelofibrosis, Pathology, 14, 445, 10.3109/00313028209092127 Thiele, 2005, European consensus for grading of bone marrow fibrosis and assessment of cellularity in myeloproliferative disorders, Haematologica, 90, 1128 Buhr, 1993, Myelofibrosis in chronic myeloproliferative disorders. Incidence among subtypes to the Hannover Classification, Patol Res Pract, 189, 121, 10.1016/S0344-0338(11)80081-6 Thiele, 2002, Follow-up examinations including sequential bone marrow biopsies in essential thrombocythemia (ET): a retrospective clinicopathological study of 120 patients, Am. J. Hematol., 70, 283, 10.1002/ajh.10116 Kreft, 2005, The incidence of myelofibrosis in essential thrombocythemia, polycythemia vera and chronic idiopathicmyelofibrosis: a retrospective evaluation of sequential bone marrow biopsies, Acta Haematol., 113, 137, 10.1159/000083452 Thiele, 2003, Dynamics of fibrosis in chronic idiopathic (primary) myelofibrosis during therapy: a follow-up study on 309 patients, Leuk. Lymphoma, 44, 949, 10.1080/1042819031000077070 Buhr, 2003, Evolution of myelofibrosis in chronic idiopathic myelofibrosis as evidenced in sequential bone marrow biopsy specimens, Am. J. Clin. Pathol., 119, 152, 10.1309/PTVGB3DXB8A8M7KD Thiele, 2005, Hematopathologic findings in chronic idiopathic myelofibrosis, Semin. Oncol., 32, 380, 10.1053/j.seminoncol.2005.04.010 Michiels, 2005 Dupriez, 1996, Prognostic factors in agnogenic myeloid metaplasia: a report on 195 cases with a bew scoring syste, Blod, 88, 1013, 10.1182/blood.V88.3.1013.1013 Reilly, 1997, Idiopathic myelofibrosis: pathogenesis, natural history and management, Blood Rev., 11, 233, 10.1016/S0268-960X(97)90022-9 Michiels, 2005, Clinical, pathological and molecular features of myeloproliferative disorders: MPD 2005 and beyond, Hematology (Am Soc Hematol Educ Program), 10, 215, 10.1080/10245330512331390456 James, 2005, A unique clonal JAK2 mutation leading to constitutive signalling causes polycythemia vera, Nature, 434, 1144, 10.1038/nature03546 Levine, 2005, Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia and myeloid metaplasia with myelofibrosis, Cancer Cells, 7, 387, 10.1016/j.ccr.2005.03.023 Kralovics, 2005, A gain-of-function mutation of JAK2 in myeloproliferative disorders, N. Engl. J. Med., 352, 1779, 10.1056/NEJMoa051113 Baxter, 2005, Acquired mutation of the tyrosine kinase in human myeloproliferative disorders, Lancet, 365, 1054, 10.1016/S0140-6736(05)74230-6 Zhao, 2005, Identification of an acquired JAK2 mutation in polycythemia vera, J. Biol. Chem., 29 Kaushanky, 2005, On the origin of the chronic myeloproliferative disorders: it makes all sense, Blood, 105, 4187, 10.1182/blood-2005-03-1287 Goldman, 2005, A unifying mutation in chronic myeloproliferative disorders, N. Engl. J. Med., 352, 1744, 10.1056/NEJMp058083 Cazzola, 2005, Gain of function, loss of control. A molecular basis for chronic myeloproliferative disorders, Haematologica Hematol J, 90, 871 Jones, 2005, Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders, Blood, 106, 2162, 10.1182/blood-2005-03-1320 Wolanskyj, 2005, JAK2 V617 mutation in essential thrombocythaemia: clinical associations and long-term relevance, Br. J. Haematol., 131, 208, 10.1111/j.1365-2141.2005.05764.x Antonioli, 2005, Clinical implications of the JAK2 V617F mutation in essential thrombocythemia, Leukemia, 19, 1847, 10.1038/sj.leu.2403902 Goerttler, 2005, The JAK2 V617F mutation, PRV-1 over expression and EEC formation define a similar cohort of MPD patients, Blood, 106, 2862, 10.1182/blood-2005-04-1515 Kralovics, 2005, Altered gene expression in myeloproliferative disorders correlates with activation of signalling by the V617F mutation of JAK2, Blood, 106, 3374, 10.1182/blood-2005-05-1889 Levine, 2005, The JAK2 V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia, Blood, 106, 3377, 10.1182/blood-2005-05-1898 Steensma, 2005, Levine RL et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both atypical myeloproliferative disorders and the myelodysplastic syndrome, Blood, 106, 1207, 10.1182/blood-2005-03-1183 Jelinek, 2005, JAK2 mutation 1849G >T is rare in acute leukemias but can be found in CMML, Philadelphia-chromosome negative CML and megakaryocytic leukemia, Blood, 10.1182/blood-2005-05-1800 Kiladjian JJ, Elkassar N, Hetet G, Balitrand N et al. Analysis of JAK2 mutation in essential thrombocythemia (ET) patients with monoclonal and polyclonal X-chromosome inactivation patterns (XCIPs). Blood (Suppl Abstract 807-II). Campbell, 2005, Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study, Lancet, 366, 1945, 10.1016/S0140-6736(05)67785-9