Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2018; 17: 51-56
Случай редкой наследственной тромбоцитопении с предрасположенностью к развитию острого миелоидного лейкоза у детей-близнецов
https://doi.org/10.24287/1726-1708-2018-17-4-51-56Аннотация
Семейная тромбоцитопения/тромбоцитопатия с предрасположенностью к развитию острого миелоидного лейкоза – редкое заболевание, связанное с мутацией в гене RUNX1. Имеются сведения о данном заболевании не более чем в 70 семьях. В статье представлены описание клинического наблюдения данной патологии у двух детей-близнецов и анализ доступной литературы, посвященной патогенетическим аспектам и распространенности этого редкого заболевания. Родители пациентов дали согласие на использование информации о них, в том числе
фотографий, в научных исследованиях и публикациях.
Список литературы
1. Sood R., Kamikubo Y., Liu P. Role of RUNX1 in hematological malignancies. Blood 2017; 15: 2070–8.
2. Маркова Е.Н., Петрова Н.В., Разин С.В., Кантидзе О.Л. Транскрипционный фактор RUNX1. Молекулярная биология 2012; 6: 846–59.
3. Бобрынина В.О., Баранова О.Ю., Самочатова Е.В., Масчан А.А. Семейная тромбоцитопения/тромбоцитопатия с предрасположенностью к развитию острого миелоидного лейкоза: описание новой семьи и мутации в гене RUNX1. Онкогематология 2011; 4: 6–11.
4. Codley L.A. Inherited Predisposition to Acute Myeloid Leukemia. Seminars in hematology Oct 2014; 51 (4): 306–18.
5. Nishimoto N., Imai Y., Ueda K., Nakagawa M., Shinohara A., Ichikawa M., et al. T cell acute lymphoblastic leukemia arising from familial platelet disorder. Int J hematol 2010; 92 (1): 194–6.
6. Weiss H.J., Chervenick P.A., Zalusky R., Factor A. A familial defect in platelet function associated with impaired release of adenosine diphosphate. N Engl J Med 1969; 281 (23): 1264–70.
7. Stockley J., Morgan N.V., Bem D. UK Genotyping and Phenotyping of Platelets Study Group. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood 2013; 122 (25): 4090–3.
8. Owen C.J., Toze C.L., Koochin A. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid alignancy. Blood 2008; 112 (12): 4639–45.
9. West A.H., Goodley L.A., Churpek J.E. Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations. Ann N Y Acad Sci 2014; 1310: 111–8.
10. Antony-Debre I., Duployez N., Bucci M. Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. Leukemia 2016; 30 (4): 999–1002.
Pediatric Hematology/Oncology and Immunopathology. 2018; 17: 51-56
The case of rare hereditary thrombocytopenia with a predisposition to the development of acute myeloid leukemia in twin children
https://doi.org/10.24287/1726-1708-2018-17-4-51-56Abstract
Family thrombocytopenia/thrombocytopathy with a predisposition to the development of acute myeloid leukemia (AML)
is a rare disease associated with a mutation in the RUNX1 gene. To date, there are data on this disease in no more than 70 families. We present a description of the clinical observation of this pathology in two twin children, and also offer an analysis of available literature on the pathogenetic aspects and prevalence of this rare disease. Patient's parents agreed to use personal dats and photos in research and publications.
References
1. Sood R., Kamikubo Y., Liu P. Role of RUNX1 in hematological malignancies. Blood 2017; 15: 2070–8.
2. Markova E.N., Petrova N.V., Razin S.V., Kantidze O.L. Transkriptsionnyi faktor RUNX1. Molekulyarnaya biologiya 2012; 6: 846–59.
3. Bobrynina V.O., Baranova O.Yu., Samochatova E.V., Maschan A.A. Semeinaya trombotsitopeniya/trombotsitopatiya s predraspolozhennost'yu k razvitiyu ostrogo mieloidnogo leikoza: opisanie novoi sem'i i mutatsii v gene RUNX1. Onkogematologiya 2011; 4: 6–11.
4. Codley L.A. Inherited Predisposition to Acute Myeloid Leukemia. Seminars in hematology Oct 2014; 51 (4): 306–18.
5. Nishimoto N., Imai Y., Ueda K., Nakagawa M., Shinohara A., Ichikawa M., et al. T cell acute lymphoblastic leukemia arising from familial platelet disorder. Int J hematol 2010; 92 (1): 194–6.
6. Weiss H.J., Chervenick P.A., Zalusky R., Factor A. A familial defect in platelet function associated with impaired release of adenosine diphosphate. N Engl J Med 1969; 281 (23): 1264–70.
7. Stockley J., Morgan N.V., Bem D. UK Genotyping and Phenotyping of Platelets Study Group. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood 2013; 122 (25): 4090–3.
8. Owen C.J., Toze C.L., Koochin A. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid alignancy. Blood 2008; 112 (12): 4639–45.
9. West A.H., Goodley L.A., Churpek J.E. Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations. Ann N Y Acad Sci 2014; 1310: 111–8.
10. Antony-Debre I., Duployez N., Bucci M. Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. Leukemia 2016; 30 (4): 999–1002.
