Мастоцитоз (обзор литературы и описание клинических случаев)
- Авторы: Меликян АЛ1, Суборцева ИН1, Горячева СР1, Колошейнова ТИ1, Вахрушева МВ1, Ковригина АМ1, Судариков АБ1, Двирнык ВН1, Обухова ТН1
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Учреждения:
- ФГБУ "Гематологический научный центр" Минздрава России, Москва
- Выпуск: Том 86, № 12 (2014)
- Страницы: 127-134
- Раздел: Передовая статья
- Статья получена: 10.04.2020
- Статья опубликована: 15.12.2014
- URL: https://ter-arkhiv.ru/0040-3660/article/view/31642
- ID: 31642
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Аннотация
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Мастоцитоз (обзор литературы и описание клинических случаев). - Аннотация. Термин "мастоцитоз" объединяет группу редких заболеваний, характеризующихся опухолевой пролиферацией клональных тучных клеток (ТК) и инфильтрацией одного или нескольких органов. Клиническая картина мастоцитоза (МЦ) крайне разнородна - от поражений кожи, которые могут спонтанно регрессировать до агрессивных форм заболевания, ассоциированных с органной недостаточностью и короткой продолжительностью жизни. В настоящее время в классификации ВОЗ (версия 2008 г.) выделено 7 подтипов МЦ. Заболевание диагностируется на основании клинических проявлений и выявления инфильтратов опухолевых ТК с использованием морфологического, иммуногистохимического, иммунофенотипического, генетического и молекулярного методов. Аномальные ТК характеризуются атипичной морфологией и аномальной экспрессией антигенов CD25 и CD2. Повышение активности триптазы в сыворотке является общим признаком для всех подтипов МЦ. Более чем у 90% пациентов имеется мутация D816VKIT в ТК. В данной статье представлен обзор литературы. В качестве клинического примера приведены описания 3 клинических случая у пациентов с различными подтипами МЦ.Об авторах
А Л Меликян
ФГБУ "Гематологический научный центр" Минздрава России, Москва
Email: anoblood@mail.ru
И Н Суборцева
ФГБУ "Гематологический научный центр" Минздрава России, Москва
Email: soubortseva@yandex.ru
С Р Горячева
ФГБУ "Гематологический научный центр" Минздрава России, Москваsvgor@blood.ru
Т И Колошейнова
ФГБУ "Гематологический научный центр" Минздрава России, Москва
Email: kolosh@blood.ru
М В Вахрушева
ФГБУ "Гематологический научный центр" Минздрава России, Москва
Email: poliklinikagnc@mail.ru
А М Ковригина
ФГБУ "Гематологический научный центр" Минздрава России, Москва
Email: kovrigina.alla@gmail.com
А Б Судариков
ФГБУ "Гематологический научный центр" Минздрава России, Москва
Email: andrey@sudarikov.net
В Н Двирнык
ФГБУ "Гематологический научный центр" Минздрава России, Москва
Email: vdvirnyk@mail.ru
Т Н Обухова
ФГБУ "Гематологический научный центр" Минздрава России, Москва
Email: obukhova@blood.ru
Список литературы
- Horny H.P., Metcalfe D.D., Bennett J.M. et al. Mastocytosis. In: Swerdlow S.H., Campo E., Harris N.L. et al., editors. WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon: World Health Organization 2008: 54-63.
- Valent P., Akin C., Escribano L. et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest 2007; 37 (6): 435-453.
- Orfao A., Garcia-Montero A.C., Sanchez L. et al. REMA. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol 2007; 138 (1): 12-30.
- De la Hoz B., González de Olano D., Alvarez I. et al. Guías clínicas para el diagnóstico, tratamiento y seguimiento de las mastocitosis [Guidelines for the diagnosis, treatment and management of mastocytosis]. An Sist Sanit Navar 2008; 31 (1): 11-32.
- Pardanani A., Akin C., Valent P. Pathogenesis, clinical features, and treatment advances in mastocytosis. Best Pract Res Clin Haematol 2006; 19 (3): 595-615.
- Metcalfe D.D. Mast cells and mastocytosis. Blood 2008; 112 (4): 946-956.
- Castells M., Metcalfe D.D., Escribano L. Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations. Am J Clin Dermatol 2011; 12 (4): 259-270.
- Wolff K., Komar M., Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res 2001; 25 (7): 519-528.
- Valent P., Horny H.P., Escribano L. et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res 2001; 25 (7): 603-625.
- Alvarez-Twose I., Morgado J.M., Sánchez-Muñoz L. et al. Current state of biology and diagnosis of clonal mast cell diseases in adults. Int J Lab Hematol 2012; 34 (5): 445-460.
- Ma H.B., Xu X., Liu W.P. et al. Successful treatment of mast cell sarcoma of the uterus with imatinib. Int J Hematol 2011; 94 (5): 491-494.
- Bugalia A., Abraham A., Balasubramanian P. et al. Mast cell sarcoma of the small intestine: a case report. J Clin Pathol 2011; 64 (11): 1035-1037.
- Brcić L., Vuletić L.B., Stepan J. et al. Mast-cell sarcoma of the tibia. J Clin Pathol 2007; 60 (4): 424-425.
- Auquit-Auckbur I., Lazar C., Deneuve S. et al. Malignant transformation of mastocytoma developed on skin mastocytosis into cutaneous mast cell sarcoma. Am J Surg Pathol 2012; 36 (5): 779-782.
- Akin C., Scott L.M., Kocabas C.N. et al. Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with "idiopathic" anaphylaxis. Blood 2007; 110 (7): 2331-2333.
- Valent P., Akin C., Arock M. et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol 2012; 157 (3): 215-225.
- Alvarez-Twose I., González de Olano D., Sánchez-Muñoz L. et al. Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms. J Allergy Clin Immunol 2010; 125 (6): 1269-1278.
- Akin C., Fumo G., Yavuz A.S. et al. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood 2004; 103 (8): 3222-3225.
- Alvarez-Twose I., González P., Morgado J.M. et al. Complete response after imatinibmesylate therapy in a patient with well-differentiated systemic mastocytosis. J Clin Oncol 2012; 30 (12): e126-129.
- Valent P., Samorapoompichit P., Sperr W.R. et al. Myelomastocytic leukemia: myeloid neoplasm characterized by partial differentiation of mast cell-lineage cells. Hematol J 2002; 3 (2): 90-94.
- Arredondo A.R., Gotlib J., Shier L. et al. Myelomastocytic leukemia versus mast cell leukemia versus systemic mastocytosis associated with acute myeloid leukemia: a diagnostic challenge. Am J Hematol 2010; 85 (8): 600-606.
- Sperr W.R., Escribano L., Jordan J.H. et al. Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis. Leuk Res 2001; 25 (7): 529-536.
- Horny H.P., Valent P. Diagnosis of mastocytosis: general histopathological aspects, morphological criteria, and immunohistochemical findings. Leuk Res 2001; 25 (7): 543-551.
- Horny H.P., Sotlar K., Stellmacher F. et al. The tryptase positive compact round cell infiltrate of the bone marrow (TROCI-BM): a novel histopathological finding requiring the application of lineage specific markers. J Clin Pathol 2006; 59 (3): 298-302.
- Sánchez-Muñoz L., Alvarez-Twose I., García-Montero A.C. et al. Evaluation of the WHO criteria for the classification of patients with mastocytosis. Mod Pathol 2011; 24 (9): 1157-1168.
- Horny H.P., Sotlar K., Valent P. Differential diagnoses of systemic mastocytosis in routinely processed bone marrow biopsy specimens: a review. Pathobiology 2010; 77 (4): 169-180.
- Falcão R.P., Rizzatti E.G., Saggioro F.P. et al. Flow cytometry characterization of leukemic phase of nasal NK/T-cell lymphoma in tumor biopsies and peripheral blood. Haematologica 2007; 92 (2): e24-25.
- Sandes A.F., Castro I.N., Miura T.E. et al. Bone marrow infiltration by cells resembling plasmablasts in a patient with blasticplasmacytoid dendritic cell neoplasm. J Hematopathol 2011; 4 (2): 123-126.
- Sandes A.F., Yamamoto M., Matarraz S. et al. Altered immunophenotypic features of peripheral blood platelets in myelodysplastic syndromes. Haematologica 2012; 97 (6): 895-902.
- Rizzatti E.G., Portieres F.L., Martins S.L. et al. Microgranular and t(11;17)/PLZFRARalpha variants of acute promyelocytic leukemia also present the flow cytometric pattern of CD13, CD34, and CD15 expression characteristic of PML-RARalpha gene rearrangement. Am J Hematol 2004; 76 (1): 44-51.
- Matos D.M., Rizzatti E.G., Fernandes M. et al. Gammadelta and alphabeta T-cell acute lymphoblastic leukemia: comparison of their clinical and immunophenotypic features. Haematologica 2005; 90 (2): 264-266.
- Escribano L., Diaz-Agustin B., Lopez A. et al. Immunophenotypic analysis of mast cells in mastocytosis: When and how to do it. Proposals of the Spanish Network on Mastocytosis (REMA). Cytometry B Clin Cytom 2004; 58 (1): 1-8.
- Teodosio C., Garcia-Montero A.C., Jara-Acevedo M. et al. Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes. J Allergy Clin Immunol 2010; 125 (3): 719-726, 726.e1-726.e4.
- Sanchez-Munoz L., Teodosio C., Morgado J.M. et al. Immunophenotypic characterization of bone marrow mast cells in mastocytosis and other mast cell disorders. Methods Cell Biol 2011; 103: 333-359.
- Teodosio C., Garcia-Montero A.C., Jara-Acevedo M. et al. An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation in systemic mastocytosis. Leukemia 2012; 26 (5): 951-958.
- Morgado J.M., Sanchez-Munoz L., Teodosio C.G. et al. Immunophenotyping in systemic mastocytosis diagnosis: eCD25 positive оf alone is more informative than the eCD25 and/or CD2 оf WHO criterion. Mod Pathol 2012; 25 (4): 516-521.
- Valent P., Cerny-Reiterer S., Herrmann H. et al. Phenotypic heterogeneity, novel diagnostic markers, and target expression profiles in normal and neoplastic human mast cells. Best Pract Res Clin Haematol 2010; 23 (3): 369-378.
- Hauswirth A.W., Escribano L., Prados A. et al. CD203c is overexpressed on neoplastic mast cells in systemic mastocytosis and is upregulated upon IgE receptor cross-linking. Int J Immunopathol Pharmacol 2008; 21 (4): 797-806.
- Valent P., Sotlar K., Horny H.P. Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. Leuk Lymphoma 2011; 52 (5): 740-744.
- Pardanani A. Systemic mastocytosis in adults: 2012 Update on diagnosis, risk stratification, and management. Am J Hematol 2012; 87 (4): 401-411.
- Sperr W.R., Jordan J.H., Fiegl M. et al. Serum tryptase levels in patients with mastocytosis: correlation with mast cell burden and implication for defining the category of disease. Int Arch Allergy Immunol 2002; 128 (2): 136-141.
- Garcia-Montero A.C., Jara-Acevedo M., Teodosio C. et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood 2006; 108 (7): 2366-2372.
- Pardanani A. Systemic mastocytosis in adults: 2011 update on diagnosis, risk stratification, and management. Am J Hematol 2011; 86 (4): 362-371.
- Arefi M., Garcia J.L., Penarrubia M.J. et al. Incidence and clinical characteristics of myeloproliferative neoplasms displaying a PDGFRB rearrangement. Eur J Haematol 2012; 89 (1): 37-41.
- Valent P., Sperr W.R., Akin C. How I treat patients with advanced systemic mastocytosis. Blood 2010; 116 (26): 5812-5817.
- Lim K.H., Pardanani A., Butterfield J.H. et al. Cytoreductive therapy in 108 adults with systemic mastocytosis: Outcome analysis and response prediction during treatment with interferon-alpha, hydroxyurea, imatinibmesylate or 2-chlorodeoxyadenosine. Am J Hematol 2009; 84 (12): 790-794.
- Kluin-Nelemans H.C., Oldhoff J.M., Van Doormaal J.J. et al. Cladribine therapy for systemic mastocytosis. Blood 2003; 102 (13): 4270-4276.
- Hauswirth A.W., Simonitsch-Klupp I., Uffmann M. et al. Response totherapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. Leuk Res 2004; 28 (3): 249-257.
- Pardanani A., Tefferi A. Systemic mastocytosis in adults: a review on prognosis and treatment based on 342 Mayo Clinic patients and current literature. Curr Opin Hematol 2010; 17 (2): 125-132.
- Bjerrum O.W. Interferon-λ treatment in systemic mastocytosis. Curr Drug Targets 2011; 12 (3): 433-436.
- Ustun C., DeRemer D.L., Akin C. Tyrosine kinase inhibitors in the treatment of systemic mastocytosis. Leuk Res 2011; 35 (9): 1143-1152.
- Vega-Ruiz A., Cortes J.E., Sever M. et al. Phase II study of imatinibmesylate as therapy for patients with systemic mastocytosis. Leuk Res 2009; 33 (11): 1481-1484.
- Shah N.P., Lee F.Y., Luo R. et al. Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis. Blood 2006; 108 (1): 286-291.
- Verstovsek S., Tefferi A., Cortes J. et al. Phase II study of dasatinib in Philadelphia chromosome-negative acute and chronic myeloid diseases, including systemic mastocytosis. Clin Cancer Res 2008; 14 (12): 3906-3915.
- Gleixner K.V., Mayerhofer M., Aichberger K.J. et al. PKC412 inhibits in vitro growth of neoplastic human mast cells expressing the D816Vmutated variant of KIT: comparison with AMN107, imatinib, and cladribine (2CdA) and evaluation of cooperative drug effects. Blood 2006; 107 (2): 752-759.
- Barete S., Assous N., de Gennes C. et al. Systemic mastocytosis and bone involvement in a cohort of 75 patients. Ann Rheum Dis 2010; 69 (10): 1838-1841.
- Nakamura R., Chakrabarti S., Akin C. et al. A pilot study of nonmyeloablative allogeneic hematopoietic stem cell transplant for advanced systemic mastocytosis. Bone Marrow Transplant 2006; 37 (4): 353-358.
- Spyridonidis A., Thomas A.K., Bertz H. et al. Evidence for a graft-versusmast-cell effect after allogeneic bone marrow transplantation. Bone Marrow Transplant 2004; 34 (6): 515-519.
- Ghanim V., Herrmann H., Heller G. et al. 5-azacytidine and decitabine exert proapoptotic effects on neoplastic mast cells: role of FAS-demethylation and FAS re-expression, and synergism with FAS-ligand. Blood 2012; 119 (18): 4242-4252.
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