Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children5610.24287/1726-1708-2017-16-2-55-61СтатьиPrimary myelofibrosis in 15-years old childПервичный миелофиброз у ребенка 15 летGordeevaG. N.ГордееваГ. Н.
Russian Federation

Russia 117997, Moscow, Samory Mashela st., 1

https://orcid.org/0000-0002-2057-2036PshonkinA. V.ПшонкинА. В.
Russian Federation

MD, pediatric hematologist/oncologist, head of the outpatient  department,

Russia 117997, Moscow, Samory Mashela st., 1

alexey.pshonkin@gmail.comSerkovaI. V.СерковаИ. В.
Russian Federation

Russia 117997, Moscow, Samory Mashela st., 1

AbramovD. S.АбрамовД. С.
Russian Federation

Russia 117997, Moscow, Samory Mashela st., 1

KonykhovaT. V.КонюховаТ. В.
Russian Federation

Russia 117997, Moscow, Samory Mashela st., 1

National Scientific and Practical Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevФГБУ «Национальный научно-практический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России, Москва10062017162556110082018Copyright ©; 2017, «D. Rogachev NMRCPHOI»Copyright ©; 2017, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2017«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/56

Primary Myelofibrosis (PMF) is a rare chronic myeloproliferative disease, resulting from the transformation of cells-predecessors of myelopoiesis with the development of fibrosis bone marrow. PMF is typical for  patients over 50 years and in most cases associated with JAK2 V617F, CALR and MPL mutations. This article presents clinical case of PMF in 15-years old child and provides an overview of the literature.

Первичный миелофиброз (ПМФ) - редкое хроническое миелопролиферативное заболевание, обусловленное трансформацией клетки - предшественницы миелопоэза с развитием фиброза костного мозга. ПМФ характерен для пациентов старше 50 лет и в большинстве случаев связан с мутациями JAK2 V617F, CALR, MPL. В данной статье представлен клинический случай заболевания ПФМ у подростка и представлен анализ литературы.

primary myelofibrosisJAK2CALR and MPL mutationsruxolitinibchildrenпервичный миелофиброзмутации генов JAK2CALRMPLруксолитинибдети1. 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 myeloproliferative neoplasms. Leukemia 2014; 28 (7): 1407-13.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 myeloproliferative neoplasms. Leukemia 2014; 28 (7): 1407-13.2. Абдулкадыров К.М., Шуваев В.А., Мартынкевич И.С. Миелопролифе-ративные новообразования. - М.: Литте-рра, 2016; 304, с. 171.Абдулкадыров К.М., Шуваев В.А., Мартынкевич И.С. Миелопролифе-ративные новообразования. - М.: Литте-рра, 2016; 304, с. 171.3. Rollison D.E., Howlader N., Smith M.T, Strom S.S., Merritt W.D., Ries L.A., et al. Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs. Blood 2008; 112 (1): 45-52.Rollison D.E., Howlader N., Smith M.T, Strom S.S., Merritt W.D., Ries L.A., et al. Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs. Blood 2008; 112 (1): 45-52.4. Altura R.A., Head D.R., Wang W.S. Long-term survival of infants with idiopathic myelofibrosis. Br J Haematol 2000; 109 (2): 459-62.Altura R.A., Head D.R., Wang W.S. Long-term survival of infants with idiopathic myelofibrosis. Br J Haematol 2000; 109 (2): 459-62.5. Dupriez B., Morel P., Demory J.L., Lai J.L., Simon M., Plantier I., Bauters F. Prognostic factors in agnogenic myeloid metaplasia: a report on 195 cases with a new scoring system. Blood, 1996; 88 (3): 1013-8.Dupriez B., Morel P., Demory J.L., Lai J.L., Simon M., Plantier I., Bauters F. Prognostic factors in agnogenic myeloid metaplasia: a report on 195 cases with a new scoring system. Blood, 1996; 88 (3): 1013-8.6. Tefferi A. Myelofibrosis with myeloid metaplasia. N Engl J Med 2000; 342: 1255-65.Tefferi A. Myelofibrosis with myeloid metaplasia. N Engl J Med 2000; 342: 1255-65.7. DeLario M.R., Sheehan A.M., Ataya R., Bertuch A.A., Vega C. II, Webb C.R., et al. Clinical, histopathological, and genetic features of pediatric primary myelofibrosis - An entity different from adults. Am J Hematol 2012; 87 (5): 461-4.DeLario M.R., Sheehan A.M., Ataya R., Bertuch A.A., Vega C. II, Webb C.R., et al. Clinical, histopathological, and genetic features of pediatric primary myelofibrosis - An entity different from adults. Am J Hematol 2012; 87 (5): 461-4.8. Pardanani A. Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. Blood 2008; 111(5): 2785-9.Pardanani A. Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. Blood 2008; 111(5): 2785-9.9. Клиническая онкогематология: Руко-водство для врачей / Под ред. М.А. Вол-ковой. Изд. 2-е, перераб. и доп. - М.: Медицина, 2007; 1120, с. 616-618.Клиническая онкогематология: Руко-водство для врачей / Под ред. М.А. Вол-ковой. Изд. 2-е, перераб. и доп. - М.: Медицина, 2007; 1120, с. 616-618.10. Tefferi A., Vaidya R., Caramazza D., Finke C., Lasho T., Pardanani A. Circulating interleukin (IL)-8, IL-2R, IL-12, and IL-15 levels are independently prognostic in primary myelofibrosis: a comprehensive cytokine profiling study. J Clin Oncol 2011; 29 (10): 1356-63.Tefferi A., Vaidya R., Caramazza D., Finke C., Lasho T., Pardanani A. Circulating interleukin (IL)-8, IL-2R, IL-12, and IL-15 levels are independently prognostic in primary myelofibrosis: a comprehensive cytokine profiling study. J Clin Oncol 2011; 29 (10): 1356-63.11. Rotunno G., Guglielmelli P., Pacilli A., et al. Mutational landscape of patients with myelofibrosis that do not harbor mutations in JAK2, MPL and Calreticulin driver genes. Blood 2015; 126 (23): 4091.Rotunno G., Guglielmelli P., Pacilli A., et al. Mutational landscape of patients with myelofibrosis that do not harbor mutations in JAK2, MPL and Calreticulin driver genes. Blood 2015; 126 (23): 4091.12. Thiele J., Kvasnicka H.M., Facchetti F., Franco V., van der Walt J., Orazi A. European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematol 2005; 90(8): 1128-32.Thiele J., Kvasnicka H.M., Facchetti F., Franco V., van der Walt J., Orazi A. European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematol 2005; 90(8): 1128-32.13. Сеrvantes F., Dupriez B., Pereira A., Passamonti F., Reilly J.T., Morra E., et al. New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood 2009; 113 (13): 2895-901.Сеrvantes F., Dupriez B., Pereira A., Passamonti F., Reilly J.T., Morra E., et al. New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood 2009; 113 (13): 2895-901.14. Passamonti F., Cervantes F., Vannucchi A.M., Morra E., Rumi E., Pereira A., et al. A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). Blood 2010; 115 (9): 1703-8.Passamonti F., Cervantes F., Vannucchi A.M., Morra E., Rumi E., Pereira A., et al. A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). Blood 2010; 115 (9): 1703-8.15. Tefferi A., Siragusa S., Hussein K., Schwager S.M., Hanson C.A., Pardanani A., et al. Transfusion-dependency at presentation and its acquisition in the first year of diagnosis are both equally detrimental for survival in primary myelofibrosis-prognostic relevans is independent for IPSS or karyotype. Am J Hematol 2010; 85 (1): 14-17.Tefferi A., Siragusa S., Hussein K., Schwager S.M., Hanson C.A., Pardanani A., et al. Transfusion-dependency at presentation and its acquisition in the first year of diagnosis are both equally detrimental for survival in primary myelofibrosis-prognostic relevans is independent for IPSS or karyotype. Am J Hematol 2010; 85 (1): 14-17.16. Patnaik M.M., Caramazza D., Gangat N., Hanson C.A., Pardanani A., Tefferi A. Age and platelet count are IPSS-independent prognostic factors in young patients with primary myelofibrosis and compliment IPSS in predicting very long or very short survival. Eur J Haematol 2010; 84 (2): 105-8.Patnaik M.M., Caramazza D., Gangat N., Hanson C.A., Pardanani A., Tefferi A. Age and platelet count are IPSS-independent prognostic factors in young patients with primary myelofibrosis and compliment IPSS in predicting very long or very short survival. Eur J Haematol 2010; 84 (2): 105-8.17. Меликян А.Л., Туркина А.Г., Абдулка-дыров К.М., Зарицкий А.Ю., Афанасьев Б.В., Шуваев В.А. и др. Клинические рекомендации по диагностике и терапии Ph-негативных миелопролиферативных заболеваний (истинная полицитемия, эссенциальная тромбоцитемия, первичный миелофиброз) // Гематология и трансфузиология, 2014; 4: 31-56.Меликян А.Л., Туркина А.Г., Абдулка-дыров К.М., Зарицкий А.Ю., Афанасьев Б.В., Шуваев В.А. и др. Клинические рекомендации по диагностике и терапии Ph-негативных миелопролиферативных заболеваний (истинная полицитемия, эссенциальная тромбоцитемия, первичный миелофиброз) // Гематология и трансфузиология, 2014; 4: 31-56.