CLINICAL AND GENETIC FEATURES AND PROGNOSIS FACTORS FOR PREDICTING THE SURVIVAL OF PRIMARY MYELOFIBROSIS LITERATURE REVIEW.
Introduction: Primary myelofibrosis (PMF) is a common tumor from the group of Ph-negative myeloproliferative diseases (MPD). In the pathogenesis of MPD as a result of complex genetic rearrangements, the gene of the hematopoietic cell is damaged and its malignant transformation occurs. The review highlights recent data on the pathogenesis, clinical, morphological, and genetic characteristics of PMF. Particular attention is paid to diagnostic criteria, the principles of treating patients with the need for stratification to select management tactics, as well as determining the prognosis factors for their survival.
Purpose: A review of the literature on the diagnosis of primary myelofibrosis, stratification of patients for special adapted therapy depending on risk groups, as well as the determination of prognosis factors for survival in PMF.
Material and methods: Sources were searched in PubMed, Scopus, Ebscohost, Medline, The Сochrane Library, SpringerLink, Web of Knowledge (Thomson Reuters), Рaragraph Medicinе, Science Direct. Depth of search from 2013 to 2019. Inclusion criteria: reports on randomized and cohort studies conducted in large populations; meta-analyzes (9) and systematic reviews (5); Articles in English and Russian. Exclusion criteria: articles describing isolated cases and series of cases; materials published before 2013, materials that do not have evidence, summaries of reports, abstracts and newspaper articles. Of 114 literary sources, 33 articles were selected as analytical material for this article.
Results: The review focuses on diagnostic criteria, the principles of treatment of patients with PMF and the need for stratification to select management tactics, as well as determining prognosis factors for their survival.
Conclusions: Molecular genetic verification of primary myelofibrosis and stratification of patients using international unified systems contributes to the choice of therapeutic tactics algorithm and prediction of survival of patients with PMF.
Serik A. Baidurin1, Farida K. Bekenova1, Marzhan Ye. Ayapova2,
Tatyana F. Baranik2, Baltenge K. Abdullina1, Perizat A. Dakhiyeva1, Anastasiya A. Afanasyeva1, Altynay T. Nakysh1, Klara B. Кurmangaliyeva1
1 NJSC "Astana Medical University", Department of Internal Medicine No.3,
Nur-Sultan city, Republic of Kazakhstan.
2 SCE on the RM "City hospital No.1", Nur-Sultan city, Republic of Kazakhstan.
1. Абдулкадыров К.М., Шуваев В.А., Мартынкевич И.С. Критерии диагностики и современные методы лечения первичного миелофиброза // Вестник гематологии. 2013. 9(3). С. 44-78.
2. Абдулкадыров К.М., Шуваев В.А., Мартынкеевич И.С. Первичный миелофиброз: Собственный опыт и новое в диагностике и лечении // Онкогематология. 2015.10 (2). С. 26-36.
3. Меликян А.Л., Туркина А.Г., Абдулкадыров К.М. и др. Клинические рекомендации по диагностике и терапии Ph-негативных миелопролиферативных заболеваний (истинная полицитемия, эссенциальная тромбоцитопения, первичный миелофиброз) // Гематология и трансфузиология. 2014. 9(4). С. 31-56.
4. Меликян А.Л., Суборцева И.Н. Биология миело-пролиферативных заболеваний // Клиническая онкогематология. 2016. 9(3). С. 314-325.
5. Меликян A.Л., Суборцева И.Н., Судариков A.Б. и т.д. Клинические особенности эссенциальной тромбоцитопении и первичного миелофиброза в зависимости от молекулярных характеристик заболевания http://doi.org/10.17116/terarkh20178974-9.
6. Arber D.A., Orazi A., Hasserjian R. et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia // Blood. 2016. 127. p. 2391-2405.
7. Barbui T., Thiele J., Gisslinger H. et al. Diagnostic impact of the 2016 revised who criteria for polycythemia vera // Am J Hematol. 2017. 92. p.417-419.
8. Barbui T., Thiele J., Gisslinger H., et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion // Blood Cancer J. 2018.-8.-15.-p1-11
9. Guglielmelli P., Lasho T.L., Rotunno G., et al. The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: An international study of 797 patients // Leukemia 2014. Prepublished on 2014/02/20 as doi 10.1038 / leu.2014.76.
10. Guglielmelli P., Vannucchi A.M. et al. The prognostic impact of bone marrow fibrosis in primary myelofibrosis // Am. J. Hematol. 2016. 91. p. E454-E455.
11. Guglielmelli P., Pacilli A., Rotunno G. et al. Presentation and outcome of patients with 2016 WHO diagnosis of prefibrotic and over primary myelofibrosis // Blood. 2017. 129. p.3227-3236.
12. Guglielmelli P., Lasho T.L., Rotunno G. et al. MIPSS70: mutation-enhanced international prognostic score system for transplantation-age patients with primary myelofibrosis // J Clin. Oncol. 2018. 36. p. 310-318.
13. Kennedy J.A. Treatment outcomes following leukemic transformation in Philadelphia-negative myeloproliferative neoplasms // Blood. 2013. 121(14). p. 2715-33. doi: 10.1182/blood-2012-10-464248.
14. Mudireddy M., Shah S., Lasho T. et al. Prefibrotic versus overtly fibrotic primary myelofibrosis: clinical, cytogenetic, molecular and prognostic comparisons. // Br. J. Haematol. https://doi.org/10.1111/bjh.14838 (2017).
15. Nangalia J., Massie C.E., Baxter E.J. et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2 // N. Engl. J. Med. 2013. 69(25). p. 2391-405.doi: 10.1056/NEJ Moa 1312542.
16. Samuelson-Bannow B.T., Salit R.B, Storer B.E. et al. Hematopoietic cell transplantation for myelofibrosis: the dynamic International Prognostic Scoring System plus risk predicts posttransplant outcomes // Biol. Blood. Marrow Transplant. 2018. 24. p.386–392.
17. Tefferi A. Primary myelofibrosis: 2013 update on diagnosis, risk-stratification and management // Am J Hematol. 2013. 88(2). p. 141-50.
18. Tefferi A., Thiele J., Vannucchi A.M., Barbui T. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myelopriliferative neoplasms // Leukemia. 2014. 28(7). p.1407-13.
19. Tefferi A., Guglielmellis, Larson D.R. et al. Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis // Blood, 2014. 124(16). p. 2507-2513.
20. Tefferi A., Guglielmelli P., Lasho T.L, et al. CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis: An international study of 570 patients // Leukemia 2014. DOI 10 .1038 /leu.2014.57.
21. Tefferi A. CME Information: Primary myelofibrosis: 2014 update on diagnosis, risk-stratification and management // Am. J. Hematol. 2014. 89(9). p. 915-925.
22. Tefferi A., Pardanani A. Myeloproliferative neoplasms: a contemporary review // JAMA Oncol. 2015. 1. p.97-105.
23. Tefferi A., Lasho T.L, Finke C.M. et al. Targeted deep sequencing in primary myelofibrosis // Blood Adv. 2016. 1. p.105-111.
24. Tefferi A. Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management // Am. J. Hematol. 2016. 91. p.1262-1271.
25. Tefferi A., Nicolosi M., Mudireddy M. et al. Driver mutations and prognosis in primary myelofibrosis: Mayo-Careggi MPN alliance study of 1,095 patients // Am. J. Hematol. 2018. 93. p. 348-355.
26. Tefferi A., Nicolosi M., Mudireddy M., et al. Revised cytogenetic risk stratification in primary myelofibrosis: analysis based on 1002 informative patients // Leukemia. 2018. 32. p.1189-1199.
27. Tefferi A., Guglielmelli P., Lasho T.L., et al. MIPSS70 + version 2.0: mutation and karyotype-enhanced international prognostic scoring system for primary myelofibrosis // J Clin Oncol. 2018. 36. p. 1769-1770.
28. Tefferi A., Guglielmelli P., Nicolosi M., et al. GIPSS: genetically inspired prognostic scoring system for primary myelofibrosis // Leukemia. 2018. 32. p. 1631-1642.
29. Tefferi A., Partian D.R., Palmer J.M. et al. Allogeneic hematopoietic stem cell transplant overcomes theadverse survival effect of very high risk and unfavorable karyotype in myelofibrosis // Am. J. Hematol. 2018. 93. p.649–654.
30. Tefferi A. Primary myelofibrosis: 2019 update on diagnosis, risk-stratification and management // Am.J.Hematol. 2018. 93. p.1551-1560.
31. Tefferi A., Guglielmelli P., Pardanani A., Vannucchi A.M. Myelofibrosis Treatment Algorithm 2018 // Blood Cancer Journal. 2018. 8(72).p.1-7.
32. Vannucchi A.M., Lasho T.L., Guglielmelli P., et al. Mutations and prognosis in primary myelofibrosis // Leukemia. 2013.27. p.1861-1869.
33. Vannucchi A.M., Guglielmelli P., Rotunno G. et al. Mutation-Enhanced International Prognostic Scoring System (MIPSS) for primary myelofibrosis: an AGIMM & IWG- MRT project. 56th ASH Annual Meeting and Exposition, San-Francisco, December 6-9, 2014 // Blood 2014. 405 p.
References:
1. Abdulkadyrov K.M., Shuvaev V.A., Martynkevich I.S. Pervichnyi mielophibroz: Sobstvennyi opyt i novoe v diagnostike i lechenii [Primary myelofibrosis: Our own experience and new in the diagnosis and treatment]. Oncogematologiya [Oncohematology]. 2015. 10 (2). pp.26-36. [in Russian]
2. Abdulkadyrov K.M., Shuvaev V.A., Martynkevich I.S. Kriterii diagnostiki i sovremennye metody lecheniya pervichnogo mielofibroza [Diagnostic criteria and modern methods of treatment of primary myelofibrosis]. Vestnik gematologii [Bulletin of Hematology]. 2013. 9(3). pp. 44-78. [in Russian]
3. Melikyan A.L., Turkina A.G., Abdulkadyrov K.M. et al. Klinicheskie rekomendatsii po diagnostike i terapii Ph- negativnykh mieloproliferativnykh zabolevanii (istinnaya politsitemiya, essentsial'naya trombotsitopeniya, pervichnyij mielofibroz) [Clinical recommendations for the diagnosis and treatment of Ph-negative myeloproliferative diseases (true polycythemia, essential thrombocytopenia, primary myelofibrosis)]. Gematologiya i transfuziologiya [Hematology and transfusiology]. 2014. 59(4). pp.31-56. [in Russian]
4. Melikyan A.L., Subortseva I.N. Biologiya mieloproliferativnykh zabolevanii [Biology of myeloproliferative diseases]. Klinicheskaya onkogematologiya [Clinical oncohematology]. 2016.-9 (3).- pp.314-325. [in Russian]
5. Melikyan A.L., Subortseva I.N., Sudarikov A.B. et al. Klinicheskie osobennosti essentsial'noi trombotsitopenii i pervichnogo mielofibroza v zavisimosti ot molekulyarnykh kharakteristik zabolevaniya [Clinical features of essential thrombocytopenia and primary myelofibrosis depending on the molecular characteristics of the disease]. Gematologiya i transfuziologiya [Hematology and transfusiology]. 2014. 59 (4). pp. 31-56. http://doi.org/10.17116/terarkh20178974-9 [in Russian].
6. Arber D.A., Orazi A., Hasserjian R. et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016. 127. p. 2391-2405.
7. Barbui T., Thiele J., Gisslinger H. et al. Diagnostic impact of the 2016 revised who criteria for polycythemia vera. Am J Hematol. 2017. 92. p.417-419.
8. Barbui T., Thiele J., Gisslinger H., et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood Cancer J. 2018. 8. 15. P.1-11
9. Guglielmelli P., Lasho T.L., Rotunno G., et al. The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: An international study of 797 patients. Leukemia 2014. Prepublished on 2014/02/20 as doi 10.1038 / leu.2014.76.
10. Guglielmelli P., Vannucchi A.M. et al. The prognostic impact of bone marrow fibrosis in primary myelofibrosis. Am. J. Hematol. 2016. 91. p. E454-E455.
11. Guglielmelli P., Pacilli A., Rotunno G. et al. Presentation and outcome of patients with 2016 WHO diagnosis of prefibrotic and over primary myelofibrosis. Blood. 2017. 129. p.3227-3236.
12. Guglielmelli P., Lasho T.L., Rotunno G. et al. MIPSS70: mutation-enhanced international prognostic score system for transplantation-age patients with primary myelofibrosis. J Clin. Oncol. 2018. 36. p. 310-318.
13. Kennedy J.A. Treatment outcomes following leukemic transformation in Philadelphia-negative myeloproliferative neoplasms. Blood. 2013. 121(14). p. 2715-33.doi: 10.1182/blood-2012-10-464248.
14. Mudireddy M., Shah S., Lasho T. et al. Prefibrotic versus overtly fibrotic primary myelofibrosis: clinical, cytogenetic, molecular and prognostic comparisons. Br. J. Haematol. https://doi.org/10.1111/bjh.14838 (2017).
15. Nangalia J., Massie C.E., Baxter E.J. et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N. Engl. J. Med. 2013. 69(25). p. 2391-405.doi: 10.1056/NEJ Moa 1312542.
16. Samuelson-Bannow B.T., Salit R.B, Storer B.E. et al. Hematopoietic cell transplantation for myelofibrosis: the dynamic International Prognostic Scoring System plus risk predicts posttransplant outcomes. Biol. Blood. Marrow Transplant. 2018. 24. p.386–392.
17. Tefferi A. Primary myelofibrosis: 2013 update on diagnosis, risk-stratification and management. Am J Hematol. 2013. 88(2). p. 141-50.
18. Tefferi A., Thiele J., Vannucchi A.M., Barbui T. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myelopriliferative neoplasms. Leukemia. 2014. 28(7). p.1407-13.
19. Tefferi A., Guglielmellis, Larson D.R. et al. Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. Blood, 2014. 124(16). p. 2507-2513.
20. Tefferi A., Guglielmelli P., Lasho T.L, et al. CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis: An international study of 570 patients. Leukemia 2014. as DOI 10 .1038 /leu.2014.57.
21. Tefferi A. CME Information: Primary myelofibrosis: 2014 update on diagnosis, risk-stratification and management. Am. J. Hematol. 2014. 89(9). p. 915-925.
22. Tefferi A., Pardanani A. Myeloproliferative neoplasms: a contemporary review. JAMA Oncol. 2015. 1. p.97-105.
23. Tefferi A., Lasho T.L, Finke C.M. et al. Targeted deep sequencing in primary myelofibrosis. Blood Adv. 2016. 1. p.105-111.
24. Tefferi A. Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management. Am. J. Hematol. 2016. 91. p.1262-1271.
25. Tefferi A., Nicolosi M., Mudireddy M. et al. Driver mutations and prognosis in primary myelofibrosis: Mayo-Careggi MPN alliance study of 1,095 patients. Am. J. Hematol. 2018. 93. p. 348-355.
26. Tefferi A., Nicolosi M., Mudireddy M., et al. Revised cytogenetic risk stratification in primary myelofibrosis: analysis based on 1002 informative patients. Leukemia. 2018. 32. p.1189-1199.
27. Tefferi A., Guglielmelli P., Lasho T.L., et al. MIPSS70 + version 2.0: mutation and karyotype-enhanced international prognostic scoring system for primary myelofibrosis. J Clin Oncol. 2018. 36. p. 1769-1770.
28. Tefferi A., Guglielmelli P., Nicolosi M., et al. GIPSS: genetically inspired prognostic scoring system for primary myelofibrosis. Leukemia. 2018. 32. p. 1631-1642.
29. Tefferi A., Partian D.R., Palmer J.M. et al. Allogeneic hematopoietic stem cell transplant overcomes theadverse survival effect of very high risk and unfavorable karyotype in myelofibrosis. Am. J. Hematol. 2018. 93. p.649–654.
30. Tefferi A. Primary myelofibrosis: 2019 update on diagnosis, risk-stratification and management. Am.J.Hematol. 2018. 93. p.1551-1560.
31. Tefferi A., Guglielmelli P., Pardanani A., Vannucchi A.M. Myelofibrosis Treatment Algorithm 2018. Blood Cancer Journal. 2018. 8(72).p.1-7.
32. Vannucchi A.M., Lasho T.L., Guglielmelli P., et al. Mutations and prognosis in primary myelofibrosis. Leukemia. 2013.27. p.1861-1869.
33. Vannucchi A.M., Guglielmelli P., Rotunno G. et al. Mutation-Enhanced International Prognostic Scoring System (MIPSS) for primary myelofibrosis: an AGIMM & IWG- MRT project. 56th ASH Annual Meeting and Exposition, San-Francisco, December 6-9, 2014. Blood, 2014. 405 p.
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Baidurin S.A., Bekenova F.K., Ayapova M.Ye., Baranik T.F., Abdullina B.K., Dakhiyeva P.A., Afanasyeva A.A., Nakysh A.T., Кurmangaliyeva K.B. Clinical and genetic features and prognosis factors for predicting the survival of primary myelofibrosis. Review // Nauka i Zdravookhranenie [Science & Healthcare]. 2020, (Vol.22) 1, pp. 17-26. doi:10.34689/SH.2020.22.1.002Related publications:
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