Mastocitosis
PubMed (Inglés)

Palabras clave

mastocitosis
clasificación
diagnóstico
tratamiento

Cómo citar

Mastocitosis. (2015). Revista Alergia México, 62(1), 60-74. https://doi.org/10.29262/ram.v62i1.60

Plaudit

Resumen

La mastocitosis es una de las ocho subcategorías de las neoplasias mieloproliferativas de la clasificación de tumores de tejidos linfoides y hematopoyéticos de 2008 de la Organización Mundial de la Salud; es un grupo heterogéneo de enfermedades mieloproliferativas que se distinguen por la proliferación excesiva de mastocitos morfológica e inmunofenotípicamente atípicos, además de la acumulación de estas células en uno o varios órganos o tejidos, incluidos la piel, la médula ósea, el hígado, el bazo y los ganglios linfáticos.

PubMed (Inglés)

Referencias

Brockow K, Jofer C, Behrendt Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy 2008;63:226-232.

Takemoto C. Mast cells-friend or foe? J Pediatr Hematol Oncol 2010;32:342-344.

Akin C. Clonality and molecular pathogenesis of mastocytosis. Acta Haematol 2005;114:61-69.

Conde-Fernandes I, Anjos-Texeira M, Freitas I, et al. Adult mastocytosis: a review of the Santo Antonio Hospital’s experience and an evaluation of World Health Organization criteria for the diagnosis of systemic disease. An Bras Dermatol 2014;89:55-66.

Sanchez-Muñoz L, Teodosio C, Morgado JM, et al. Immunophenotypic characterization of bone marrow mast cells in mastocytosis and other mast cell disorders. Methods Cell Biol 2011;103:333-359.

Amorim Oliveira AC, Mihon CE, Silva M, Galzerano A. Systemic mastocytosis-a diagnostic challenge. Revista Brasileira de Hematologia e Hemoterapia 2014;36:226-229.

Valent P. Diagnostic evaluation and classification of mastocytosis. Immunol Allergy Clin North Am 2006;26:515-534.

Hoffman R, Benz EJ Jr, Shattil SJ, Furie B, et al. Hematology: basic principles and practice. 4th ed. Philadelphia: Elsevier, 2005;911-925.

Valent P, Escribano L, Broesby-Olsen S, et al. Proposed diagnostic algorithm for patients with suspected mastocytosis: a proposal of the European Competence Network on Mastocytosis. Allergy 2014;69:1267-1274.

Valent P. Biology, classification and treatment of human mastocytosis. Wien Klin Wochenschr 1996;108:385-397.

Sperr WR, Escribano L, Jordan JH, et al. Morphologic properties of neoplastic mas cells: delineation of stages of maturation and implication for cytological grading of mastocytosis. Leuk Res 2001;25:529-536.

Valent P, Akin C, Sperr WR, et al. Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria. Leuk Res 2003;27:635-641.

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;37:435-453.

Bonadonna P, Perbellini O, Passalacqa G, et al. Clonal mast cell disorders in patients with systemic reactions to hymenoptera stings and increased serum tryptase level. J Allergy Clin Immunol 2009;123:680-686.

Frieri M, Quershi M. Pediatric mastocytosis: A review of the literature. Pediatr Allergy Immunol Pulmonol 2013;26:175-180.

Fried AJ, Akin C. Primary mast cell disorders in children. Curr Allergy Asthma Rep 2013;13:693.

Akoglu G, Erkin G, Cakir B, Boztepe G, et al. Cutaneous mastocytosis: dermographic aspects and clinical features of 55 patients. J Eur Acad Dermatol Venereol 2006;20:969-973.

van Doormaal JJ, Arends S, Brunekreeft KL, et al. Prevalence of indolent systemic mastocytosis in a Dutcj region. JACI 2013;131:1429-1431.

Miettnen M, Lasota J. KIT (CD117): A review on expression in normal and neoplastic tissues, and mutations and their clinicopathologic correlation. Appl Immunihistochem Mol Morphol 2005;13:205-220.

Quintas-Cardama A, Jain N, Verstovsek S. Advances and controversies in the diagnosis, pathogenesis and treatment of systemic mastocytosis. Cancer 2011;117:5439-5449.

Kambe N, Longley BJ, Miyachi Y, et al. KIT masters mast cells in kids, too. J Invest Dermatol 2010;130:648-650.

Bodemer C, Hermine O, Palmerini F, Yang Y, et al. Pediatric mastocytosis is a clinical disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol 2010;130:804-815.

Valent P, Spanbiochi E, Sperr WR, et al. Induction of differentiation of human mast cells from bone marrow and peripheral blood momonuclear cells by recombinant human stem cell factor/kit ligand in long term culture. Blood 1992;80:2237-2245.

Furitsu T, Tsujimura T, Tono T, et al. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell lines causing ligand-independent activation of c-kit product. J clin Invest 1993;92:1736-1744.

Nagata H, Worobec AS, Oh CK, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci USA 1995;92:10560-10564.

Longley BJ, Metcalfe DD, Tharp M, et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA 1999;96:1609-1614.

Tefferi A, Levine RL, Lim KH, et al. Frequent TET2 mutations in systemic mastocytosis: A clinical, KitD816V and FIP1L1-PDGFRA correlates. Leukemia 2009;23:900-904.

Wilson TM, Maric I, Simakova O, et al. Clonal analysis of NRAS activating mutations in KIT- D816V systemic mastocytosis. Haematologica 2011;96:459-463.

Akin C, Valent P, Metcalfe DD. Mast cell activation syndrome:

proposed diagnostic criteria. JACI 2010;126:1099-1104.

Belhacin W, Ibrahim Z, Grandne V, et al. Total serum tryptase levels are higher in young infants. Pediatr Allergy Immunol 2011;22:600-607.

Horny HP, Metcalfe DD, Benett JM, et al. WHO classification of tumors of hematopoietic and lymphoid tissues. Lyon: IARC, 2008;54-63.

Valent P, Akin C, Esribano L, et al. Standards and standardization in mastocytosis consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest 2007;37:435-453.

Metcalfe DD. Mast cells and mastocytosis. Blood 2008;112;946-956.

Lim KH, Tefferi A, Lasho TL, et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood 2009;113:5727-5736.

Pardanani A. CME information: Systemic mastocytosis in adults: 2013, update on diagnosis, risk stratification, and management. Am J Hematol 2013;88:612.

Pardanani A, Lim KH, Lasho TL, et al. WHO subvariants of indolent mastocytosis: Clinical details and prognostic evaluation in 159 consecutive adults. Blood 2010;115:150-151.

Caplan RM. The natural course of urticaria pigmentosa. Analysis and follow-up of 112 cases. Arch Dermatol 1963;87:146-157.

Uzzaman A, Maric I, Noel P, et al. Pediatric-onset mastocytosis: a long-term clinical follow-up and correlation with bone marrow histopathology. Pediatr Blood Cancer 2009;53:629-634.

Azaña JM, Torrelo A, Mediero IG, et al. Urticaria pigmentosa: a review of 67 pediatric cases. Pediatr Dermatol 1994;11:102-106.

Lim KH, Tefferi A, Lasho TL, et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood 2009;113:5727-5736.

Carter MC, Metcalfe DD, Komarow HD. Mastocytosis. Immunol Allergy Clin North Am 2014;34:181-196.

Horny HP, Stlar K, Sperr WR, et al. Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: A histopathological challenge. J Clin Pathol 2004;57:604-608.

Pardanani A, Reeder T, Li CY, et al. Eosinophils are derived from the neoplastic clone in patients with systemic mastocytosis and eosinophilia. Leuk Res 2003;27:883-885.

Brockow K. Urticaria pigmentosa. Immunol Allergy Clin North Am 2004;24:287-316.

Pardanani A. Systemic mastocytosis in adults: 2012 update on diagnosis, risk stratification, and management. Am J Hematol 2012;87:401-411.

Kettelhut BV, Metcalfe DD. Mastocytosis. J Invest Dermatol 1991;96:115-118.

Brockow K, Jofer C, Behrendt H, et al. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy 2008;63:226-232.

Broesby-Olsen S, Kristensen T, Vestergaard H, et al. Kit D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. JACI 2013;132:723-728.

Florian S, Krauth MT, Simonitsch-Kulpp I, et al. Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. Int Arch Allergy Immunol 2005;136:273-280.

Gulen T, Hagglund H, Dahlen B, et al. High prevalence of anaphylaxis in patients with systemic mastocytosis-a single center experience. Clin Exp Allergy 2013;44:121-129.

Bonadonna P, Zanotti R, Pagani M, et al. How much specific is the association between hymenoptera venom allergy and mastocytosis? Allergy 2009;64:1379-1382.

Potier A, Lavigne C, Chappard D, et al. Cutaneous manifestations in hymenoptera and diptera anaphylaxis: relationship with basal serum tryptase. Clin and Exp Allergy 2009;39:717-725.

Gonzalez de Olano D, De la Hoz Caballero B, Nuñez Lopez R, et al. Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA). Clin Exper Allergy 2007;37:1547-1555.

Dugas-Breit S, Przybilla B, Dugas M, et al. Serum concentration of baseline mast cell tryptase: evidence for a decline during long-term immunotherapy for Hymenoptera venom allergy. Clin Exp Allergy 2010;40:643-649.

Guillaume N, Desoutter J, Chandesris O, et al. Bone complications of mastocytosis: a link between clinical and biological characterstics. Am J Med 2013;126:1-7.

Mathew R, Dhillon V, Sheperd P. Systemic mastocytosis presenting as osteoporosis-a case report. Clinical Rheumatology 2009;28:865-866.

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 2207;37:435-453.

Heide R, van Doorn K, Mulder PG. Serum tryptase and SCORMA Index as disease severity parameters in childhood and adult cutaneous mastocytosis. Clin Exp Dermatol 2009;34:462-468.

Lange M, Boguslaw N, Gorska A, et al. Mastocytosis in children and adults; clinical disease heterogeneity. Arch Med Sci 2012;8:533-541.

Parker RI. Hematologic aspects of mastocytosis. I: Bone marrow pathology in adult and pediatric systemic mast cell disease. J Invest Dermatol 1991;96:47-51.

Horny HP, Sillaber C, Menke D, et al. Diagnostic value of immunostaining for tryptase in patients with mastocytosis. Am J Surg Pathol 1998;22:1132-1140.

Horny HP, Valent P. Histopathological and immunohistochemical aspects of mastocytosis. Int Arch Allergy Immunol 2002;127:115-117.

Sotlar K, Horny HP, Simonitsch I, et al. CD25 indicates the neoplastic phenotype of mast cells: A novel immunohistochemical marker for the diagnosis of SM in routenily processed bone marrow biopsy specimens. Am J

Surg Pathol 2004,28:1319-1325.

Sperr WR, El Samahi A, Kundi M, et al. Elevated tryptasa levels selectively cluster in myeloid neoplasm: A novel diagnostic approach and screen marker in clinical haematology. Eur J Clin Invest 2009;39:914-923.

Akin C. Molecular diagnosis of mast cell disorders: A paper from the 2005 William Beaumont Hospital symposium on molecular pathology. J Mol Diagn 2006;8:412-419.

Jordan JH, Walchshofer S, Jurecka W, et al. Immunohistochemical properties of bone marrow mast cells in systemic mastocytosis: Evidence for expression of CD2, CD117 and bcl-x. Hum Pathol 2001;32:545-552.

Sotlar K, Cerny S, Petat K, et al. Aberrant expression of CD30 in neoplastic mast cells in high grade mastocytosis. Mod Pathol 2011;24:585-595.

Escribano L, García Montero AC, Núñez R, et al. Flow cytometric analysis of normal and neoplastic mast cells: Role in diagnosis and follow-up of mast cell disease. Immunol Allergy Clin North Am 2006;26:553-547.

Siebenhaar F, Fortsh A, Krause K, et al. Rupatadine improves quality of life in mastocytosis: a randomized, double blind, placebo-controlled trial. Allergy 2013;68:949-952.

Jensen RT. Gastrointestinal abnormalities and involvement in systemic mastocytosis. Hematol Oncol Clin North Am 2000;14:579-623.

Sokol H, Georgin-Lavialle S, Canioni D, et al. Gastrointestinal manifestations in mastocytosis: a study of 83 patients. JACI 2013;132:866-873.

Moura DS, Sultan S, Gerogin-Lavialle S, et al. Evidence for cognitive impairment in mastocytosis: prevalence, features and correlations to depression. PloS One 2012;7:39468.

Moura DS, Sultan S, Georgin-Lavialle S, et al. Depression in patients with mastocytosis: prevalence, features and effects of masitinib therapy. PloS One 2011;6:26375.

Johnstone PA, Mican JM, Metcalfe DD, et al. Radiotherapy of refractory bone pain due to systemic mast cell disease. AM J Clin Oncol 1995;17:328-330.

Horan RF, Sheffer AL, Austen KF. Cromolyn sodium in the management of systemic mastocytosis. JACI 1990;85:852-855.

Lim AY, Ostor AJ, Love S, et al. Systemic mastocytosis: a rare cause of osteoporosis and its response to bisphpsphonate tratment. Ann Rheum Dis 2005;64:965-966.

Gonzalez de Olano, Alvarez Twose, Esteban Lopez M, et al. Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with hymenoptera venom anaphylaxis. JACI 2008;121:519-526.

Butterfield JH. Response of severe systemic mastocytosis to interferon alpha. Br J Dermatol 1998;138:489-495.

Butterfield JH, Tefferi A, Kozuh GF. Successful treatment of systemic mastocytosis with high dose interferon-alfa: Long term follow up of a case. Leuk Res 2005;29:131-134.

Kolde G, Sunderkotter C, Luger TA. Treatment of urticaria pigmentosa using interferon alpha. BR J Dermatol 1995;133:91-94.

Hauswirth AW, Simonitsch I, Uffmann M, et al. Response to therapy with interferon alpha 2b and prednisilone in aggressive systemic mastocytosis: Report of five cases and review of the literature. Leuk Res 2004;28:249-257.

Lim KH, Pardanani A, Butterfield JH, et al. Cytoreductive therapy in 108 adults with systemic mastocytosis: Outcome analysis and response prediction during treatment with interferon aplha, hydroxiurea, imatinib mesylate or 2-chlorodeoxyadenosine. Am J Hematol 2009;84:790-794.

Simon J, Lortholary O, Caillat Vigneron N, et al. Interest of interferon alpha in systemic mastocytosis. The French experience and review of the literature. Pathol Biol (Paris) 2004;52:294-299.

Bohm A, Sonneck K, Gleixner KV, et al. In vitro and in vivo growth-inhibitory effects of claridibine on neoplastic mast cells exhibiting the imatinib-resistant KIT mutation D816V. Exp Hematol 2010;38:744-755.

Gleixner KV, Mayerhofer M, Aichberger KJ, et al. PKC412 inhibits in vitro growth of neoplastic human mast cells expression the D816V mutated variant of KIT: Comparison with AMN107, imatinib and cladribine and evaluation. Blood

;107:752-759.

Escribano C, Akin M, Castells M, et al. Mastocytosis: current concepts in diagnosis and treatment. Ann Hematol 2002;81:677-690.

Tolar J, Tope WD, Neglia JP. Leukotriene-receptor inhibition for the treatment of systemic mastocytosis. NEJM 2004;350:735-736.

Carter MC, Robyn JA, Bressler PB, et al. Omalizumab for the

treatment of unprovoked anaphylaxis in patients with systemic mastocytosis. JACI 2007;119:1550-1551.

Sokol K, Ghazi A, Kelly B, et al. Omalizumab as a desensitizing agent and treatment in mastocytosis: a review of the literature and case report. J Allergy Clin Immunol Pract 2014;2:266-270.

Douglass JA, Carroll K, Voskamp A, et al. Omalizumab is effective in treating systemic mastocytosis in a non-atopic patient. Allergy 2010;65:926-927.

Matito A, Blazquez-Goni C, Morgado JM, et al. Short-term omalizumab treatment in an adolescent wuth cutaneous mastocytosis. Ann Allergy Asthma Immunol 2013;111:425-426.

Carter MC, Robyn JA, Bressler PB, et al. Omalizumab for the treatment of unprovoked anaphylaxis in patients with systemic mastocytosis. JACi 2007;119:1550-1551.

Siebenhaar F, Kühn W, Zuberbier T, et al. Successful treatment of cutaneous mastocytosis and Ménière disease with anti-IgE therapy. J Allergy Clin Immunol 2007;120:213-215.

Valent P, Horny HP, Escribano L, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res 2001;25:603-625.

Alvarez-Twose I, Gonzalez P, Morgado JM, et al. Complete response after imatinib mesylate therapy in a patient with well-diferentiated systemic mastocytosis. J Clin Oncol 2012;30:126-129.

Gotlib J, Kluin-Nelemans HC, George Ti, et al. KIT inhibitor midostaurin in patients with advances systemic mastocytosis: results of a planned interim analysis of the global CPKC412D2201 trial. Blood 2012;120:799.

Bains SN, Hsieh FH. Current approaches to the diagnosis and treatment of systemic mastocytosis. Ann Allergy Asthma Immunol 2010;104:1-10.

Creative Commons License

Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial 4.0.

Derechos de autor 2015 Revista Alergia México