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Blood Res 2014; 49(4):

Published online December 31, 2014

https://doi.org/10.5045/br.2014.49.4.211

© The Korean Society of Hematology

The puzzle of myeloproliferative neoplasms: novel disease-specific mutations and new proposals for diagnostic criteria

Hee-Jin Kim1,#, Chul Won Choi2,#, and Jong-Ho Won3*

1Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

2Department of Internal Medicine, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Korea.

3Department of Internal Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.

#Hee-Jin Kim and Chul Won Choi contributed equally to this work.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Table. 1.

Table 1 Major driver gene mutations in BCR/ABL1-negative myeloproliferative neoplasms.

a)JAK2, MPL, and CALR mutations typically occur in a mutually exclusive manner. b)CSFR mutations also occur in ~45% of BCR/ABL1-negative atypical CML.

Abbreviations: PV, polycythemia vera; ET, essential thrombocythemia; PMF, primary myelofibrosis; CNL, chronic neutrophilic leukemia; ins/del, insertion/deletion; qPCR, quantitative real-time PCR; AS-PCR, allele-specific PCR.


Table. 2.

Table 2 2014 proposed diagnostic criteria for PV, ET, and PMF.

a)PV diagnosis requires meeting either both major criteria and one minor criterion or the first major criterion and two minor criteria.

b)PV diagnosis requires meeting either all three major criteria or the first two major criteria and one minor criterion.

c)ET diagnosis requires meeting all four major criteria.

d)ET diagnosis requires meeting all four major criteria or first three major criteria and one minor criterion.

e)PMF diagnosis requires meeting all three major criteria and two minor criteria.

f)PMF diagnosis requires meeting all three major criteria or the first two major criteria and all three minor criteria.

Abbreviations: BM, bone marrow; EPO, erythropoietin; MK, megakaryocytes


  1. Swerdlow SH, Campo E, Harris NL. WHO Classification of tumours of haematopoietic and lymphoid tissues. France: IARC Press.
  2. Tefferi, A, Thiele, J, Vannucchi, AM, Barbui, T. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia, 2014;28;1407-1413.
    Pubmed
  3. Rumi, E, Pietra, D, Ferretti, V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood, 2014;123;1544-1551.
    Pubmed
  4. Tefferi, A, Lasho, TL, Finke, C, et al. Type 1 vs type 2 calreticulin mutations in primary myelofibrosis: differences in phenotype and prognostic impact. Leukemia, 2014;28;1568-1570.
    Pubmed
  5. Barbui, T, Thiele, J, Carobbio, A, et al. Discriminating between essential thrombocythemia and masked polycythemia vera in JAK2 mutated patients. Am J Hematol, 2014;89;588-590.
    Pubmed
  6. Barbui, T, Thiele, J, Vannucchi, AM, Tefferi, A. Rethinking the diagnostic criteria of polycythemia vera. Leukemia, 2014;28;1191-1195.
    Pubmed

Article

Perspective

Blood Res 2014; 49(4): 211-213

Published online December 31, 2014 https://doi.org/10.5045/br.2014.49.4.211

Copyright © The Korean Society of Hematology.

The puzzle of myeloproliferative neoplasms: novel disease-specific mutations and new proposals for diagnostic criteria

Hee-Jin Kim1,#, Chul Won Choi2,#, and Jong-Ho Won3*

1Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

2Department of Internal Medicine, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Korea.

3Department of Internal Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.

#Hee-Jin Kim and Chul Won Choi contributed equally to this work.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

    Table 1 . Major driver gene mutations in BCR/ABL1-negative myeloproliferative neoplasms..

    a)JAK2, MPL, and CALR mutations typically occur in a mutually exclusive manner. b)CSFR mutations also occur in ~45% of BCR/ABL1-negative atypical CML..

    Abbreviations: PV, polycythemia vera; ET, essential thrombocythemia; PMF, primary myelofibrosis; CNL, chronic neutrophilic leukemia; ins/del, insertion/deletion; qPCR, quantitative real-time PCR; AS-PCR, allele-specific PCR..


    Table 2 . 2014 proposed diagnostic criteria for PV, ET, and PMF..

    a)PV diagnosis requires meeting either both major criteria and one minor criterion or the first major criterion and two minor criteria..

    b)PV diagnosis requires meeting either all three major criteria or the first two major criteria and one minor criterion..

    c)ET diagnosis requires meeting all four major criteria..

    d)ET diagnosis requires meeting all four major criteria or first three major criteria and one minor criterion..

    e)PMF diagnosis requires meeting all three major criteria and two minor criteria..

    f)PMF diagnosis requires meeting all three major criteria or the first two major criteria and all three minor criteria..

    Abbreviations: BM, bone marrow; EPO, erythropoietin; MK, megakaryocytes.


    References

    1. Swerdlow SH, Campo E, Harris NL. WHO Classification of tumours of haematopoietic and lymphoid tissues. France: IARC Press.
    2. Tefferi, A, Thiele, J, Vannucchi, AM, Barbui, T. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia, 2014;28;1407-1413.
      Pubmed
    3. Rumi, E, Pietra, D, Ferretti, V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood, 2014;123;1544-1551.
      Pubmed
    4. Tefferi, A, Lasho, TL, Finke, C, et al. Type 1 vs type 2 calreticulin mutations in primary myelofibrosis: differences in phenotype and prognostic impact. Leukemia, 2014;28;1568-1570.
      Pubmed
    5. Barbui, T, Thiele, J, Carobbio, A, et al. Discriminating between essential thrombocythemia and masked polycythemia vera in JAK2 mutated patients. Am J Hematol, 2014;89;588-590.
      Pubmed
    6. Barbui, T, Thiele, J, Vannucchi, AM, Tefferi, A. Rethinking the diagnostic criteria of polycythemia vera. Leukemia, 2014;28;1191-1195.
      Pubmed
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