Laboratory Investigation of Myeloproliferative Neoplasms (MPNs)

被引:0
作者
Busque, Lambert [1 ]
Porwit, Anna [2 ,3 ]
Day, Radmila [5 ]
Olney, Harold J. [6 ]
Leber, Brian [7 ]
Ethier, Vincent [1 ]
Sirhan, Shireen [8 ]
Foltz, Linda [9 ]
Prchal, Jaroslav [10 ]
Kamel-Reid, Suzanne [2 ,3 ]
Karsan, Aly [11 ,12 ]
Gupta, Vikas [4 ]
机构
[1] Univ Montreal, Hop Maisonneuve Rosemont, Dept Lab Hematol, 5415 Blvd Assompt, Montreal, PQ H1T 2M4, Canada
[2] Univ Toronto, Princess Margaret Canc Ctr, Dept Pathol, Univ Hlth Network, Toronto, ON, Canada
[3] Univ Toronto, Princess Margaret Canc Ctr, Dept Lab Med & Pathobiol, Toronto, ON, Canada
[4] Univ Toronto, Princess Margaret Canc Ctr, Dept Med Oncol & Hematol, Toronto, ON, Canada
[5] Fus MD Med Sci Network, Montreal, PQ, Canada
[6] Ctr Hosp Univ Montreal, Dept Hematol & Transfus Med, Montreal, PQ, Canada
[7] McMaster Univ, Dept Med Hematol & Thromboembolism, Hamilton, ON, Canada
[8] Jewish Gen Hosp, Div Hematol, Montreal, PQ, Canada
[9] Univ British Columbia, St Pauls Hosp, Div Hematol, Vancouver, BC, Canada
[10] McGill Univ, Div Oncol, Montreal, PQ, Canada
[11] BC Canc Agcy, Pathol & Lab Med, Vancouver, BC, Canada
[12] BC Canc Agcy, Michael Smith Genome Sci Ctr, Vancouver, BC, Canada
关键词
Myeloproliferative neoplasms; Myelofibrosis; Polycythemia vera; Essential thrombocythemia; JAK2; V617F; CALR; MPL; BCR-ABL negative; EXON; 12; MUTATIONS; ERYTHROID COLONY FORMATION; TYROSINE KINASE JAK2; POLYCYTHEMIA-VERA; ESSENTIAL THROMBOCYTHEMIA; PRIMARY MYELOFIBROSIS; DIAGNOSTIC-CRITERIA; SOMATIC MUTATIONS; CLONAL HEMATOPOIESIS; MOLECULAR DIAGNOSIS;
D O I
10.1093/AJCP/AQW131
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Objectives: To standardize diagnostic investigations for myeloproliferative neoplasms (MPNs) to increase homogeneity in patient care and to streamline diagnostic approaches in the most efficient and cost-effective manner. Methods: The development of Canadian expert consensus recommendations for the diagnosis of MPNs began with a review of the following: clinical evidence, daily practice, existing treatment guidelines, and availability of diagnostic tools. Each group member was assigned a specific topic, which they discussed with the entire group during several consensus meetings. Results: This document provides the Canadian MPN group's recommendations, proposed diagnostic algorithms, and background evidence upon which decisions were made. Conclusions: Standardization of diagnostic investigations will increase homogeneity in patient care and provide a foundation for future clinical research in this rapidly evolving therapeutic area. Streamlining diagnostic approaches in the most efficient and cost-effective manner will also result in significant cost saving for the health care system.
引用
收藏
页码:408 / 422
页数:15
相关论文
共 90 条
[11]  
BUDDE U, 1993, BLOOD, V82, P1749
[12]   Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis [J].
Busque, Lambert ;
Patel, Jay P. ;
Figueroa, Maria E. ;
Vasanthakumar, Aparna ;
Provost, Sylvie ;
Hamilou, Zineb ;
Mollica, Luigina ;
Li, Juan ;
Viale, Agnes ;
Heguy, Adriana ;
Hassimi, Maryam ;
Socci, Nicholas ;
Bhatt, Parva K. ;
Gonen, Mithat ;
Mason, Christopher E. ;
Melnick, Ari ;
Godley, Lucy A. ;
Brennan, Cameron W. ;
Abdel-Wahab, Omar ;
Levine, Ross L. .
NATURE GENETICS, 2012, 44 (11) :1179-1181
[13]   Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients [J].
Cabagnols, Xenia ;
Favale, Fabrizia ;
Pasquier, Florence ;
Messaoudi, Kahia ;
Defour, Jean Philippe ;
Ianotto, Jean Christophe ;
Marzac, Christophe ;
Le Couedic, Jean Pierre ;
Droin, Nathalie ;
Chachoua, Ilyas ;
Favier, Remi ;
Diop, M'boyba Khadija ;
Ugo, Valerie ;
Casadevall, Nicole ;
Debili, Najet ;
Raslova, Hana ;
Bellanne-Chantelot, Christine ;
Constantinescu, Stefan N. ;
Bluteau, Olivier ;
Plo, Isabelle ;
Vainchenker, William .
BLOOD, 2016, 127 (03) :333-342
[14]  
Campbell PJ, J OLIN ONCOL
[15]  
Campregher P, 2014, BLOOD, V124, P4589
[16]   Refined cytogenetic-risk categorization for overall and leukemia-free survival in primary myelofibrosis: a single center study of 433 patients [J].
Caramazza, D. ;
Begna, K. H. ;
Gangat, N. ;
Vaidya, R. ;
Siragusa, S. ;
Van Dyke, D. L. ;
Hanson, C. ;
Pardanani, A. ;
Tefferi, A. .
LEUKEMIA, 2011, 25 (01) :82-88
[17]   Somatic mutations of JAK2 exon 12 as a molecular basis of erythrocytosis [J].
Cazzola, Mario .
HAEMATOLOGICA, 2007, 92 (12) :1585-+
[18]  
Ciaudo M, 1998, HEMATOL CELL THER, V40, P171
[19]   Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms [J].
Feenstra, Jelena D. Milosevic ;
Nivarthi, Harini ;
Gisslinger, Heinz ;
Leroy, Emilie ;
Rumi, Elisa ;
Chachoua, Ilyas ;
Bagienski, Klaudia ;
Kubesova, Blanka ;
Pietra, Daniela ;
Gisslinger, Bettina ;
Milanesi, Chiara ;
Jaeger, Roland ;
Chen, Doris ;
Berg, Tiina ;
Schalling, Martin ;
Schuster, Michael ;
Bock, Christoph ;
Constantinescu, Stefan N. ;
Cazzola, Mario ;
Kralovics, Robert .
BLOOD, 2016, 127 (03) :325-332
[20]   DIPSS Plus: A Refined Dynamic International Prognostic Scoring System for Primary Myelofibrosis That Incorporates Prognostic Information From Karyotype, Platelet Count, and Transfusion Status [J].
Gangat, Naseema ;
Caramazza, Domenica ;
Vaidya, Rakhee ;
George, Geeta ;
Begna, Kebede ;
Schwager, Susan ;
Van Dyke, Daniel ;
Hanson, Curtis ;
Wu, Wenting ;
Pardanani, Animesh ;
Cervantes, Francisco ;
Passamonti, Francesco ;
Tefferi, Ayalew .
JOURNAL OF CLINICAL ONCOLOGY, 2011, 29 (04) :392-397