Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms

Journal of Allergy and Clinical Immunology

Volumn 125, Issue 6, 2010, Pages

  Álvarez Twose, Iván ^a,l   González de Olano, David ^b,l   Sánchez Muñoz, Laura ^a,l   Matito, Almudena ^a,l   Esteban López, Maria I ^c   Vega, Arantza ^d   Mateo, Maria Belén ^e   Alonso Díaz de Durana, Maria D ^f   de la Hoz, Belén ^g,l   del Pozo Gil, Maria D ^h   Caballero, Teresa ⁱ   Rosado, Ana ^f   Sánchez Matas, Isabel ^j   Teodósio, Cristina ^k,l   Jara Acevedo, María ^k,l   Mollejo, Manuela ^a   García Montero, Andrés ^k,l   Orfao, Alberto ^k,l   Escribano, Luis ^a,l  

^a HOSPITAL VIRGEN DE LA SALUD   (Spain)

^b HOSPITAL UNIVERSITARIO DE FUENLABRADA   (Spain)

^c HOSPITAL GENERAL DE SEGOVIA   (Spain)

^d HOSPITAL UNIVERSITARIO DE GUADALAJARA   (Spain)

^e HOSPITAL GENERAL UNIVERSITARIO DE CIUDAD REAL   (Spain)

^f HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

^g HOSPITAL RAMÓN Y CAJAL   (Spain)

^h HOSPITAL SAN PEDRO   (Spain)

ⁱ HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^j HOSPITAL UNIVERSITARIO PRÍNCIPE DE ASTURIAS   (Spain)

^k Centro de Investigacion del Cancer   (Spain)

^l Red Española de Mastocitosis   (Spain)

more..

Author keywords

anaphylaxis; CD25; clonal; KIT mutation; Mast cell; mastocytosis; score; systemic mast cell activation disorders

Indexed keywords

ALLERGEN; ANDROGEN RECEPTOR; STEM CELL FACTOR RECEPTOR; TRYPTASE;

ADULT; AGED; ANAPHYLAXIS; ARTICLE; BONE MARROW; CARDIOVASCULAR SYMPTOM; CLINICAL FEATURE; CLONAL VARIATION; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; ENZYME BLOOD LEVEL; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; IDIOPATHIC DISEASE; IMMUNOPATHOLOGY; INSECT BITE; MAJOR CLINICAL STUDY; MALE; MAST CELL; PRESYNCOPE; PRIORITY JOURNAL; SYMPTOM; SYNCOPE; SYSTEMIC MAST CELL ACTIVATION DISORDER; SYSTEMIC MASTOCYTOSIS; URTICARIA PIGMENTOSA;

EID: 77952745200     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2010.02.019     Document Type: Article

References (46)

1. Galli S.J., Dvorak A.M., and Dvorak H.F. Basophils and mast cells: morphologic insights into their biology, secretory patterns, and function. Prog Allergy 34 (1984) 1-141
2. Fukuoka Y., Xia H.Z., Sanchez-Munoz L.B., Dellinger A.L., Escribano L., and Schwartz L.B. Generation of anaphylatoxins by human {beta}-tryptase from C3, C4, and C5. J Immunol 180 (2008) 6307-6316
3. Nuñez R., Escribano L., Schernthaner G., Prados A., Rodriguez-Gonzalez R., Diaz-Agustin B., et al. Overexpression of complement receptors and related antigens on the surface of bone marrow mast cells in patients with systemic mastocytosis. Br J Haematol 120 (2002) 257-265
4. Katz H.R., Raizman M.B., Gartner C.S., Scott H.C., Benson A.C., and Austen K.F. Secretory granule mediator release and generation of oxidative metabolites of arachidonic acid via Fc-IgG receptor bridging in mouse mast cells. J Immunol 148 (1991) 868-871
5. Lobell R.B., Arm J.P., Raizman M.B., Austen K.F., and Katz H.R. Intracellular degradation of Fc gamma RIII in mouse bone marrow culture-derived progenitor mast cells prevents its surface expression and associated function. J Biol Chem 268 (1993) 1207-1212
6. Lobell R.B., Austen K.F., and Katz H.R. FcgammaR-mediated endocytosis and expression of cell surface FcgammaRIIb1 and FcgammaRIIb2 by mouse bone marrow culture- derived progenitor mast cells. J Immunol 152 (1994) 811-818
7. Woolhiser M.R., Brockow K., and Metcalfe D.D. Activation of human mast cells by aggregated IgG through FcgammaRI: additive effects of C3a. Clin Immunol 110 (2004) 172-180
8. Malaviya R., Gao Z.M., Thankavel K., Van der Merwe P.A., and Abraham S.N. The mast cell tumor necrosis factor α response to FimH-expressing Escherichia coli is mediated by the glycosylphosphatidylinositol-anchored molecule CD48. Proc Natl Acad Sci USA 96 (1999) 8110-8115
9. Gommerman J.L., Oh D.Y., Zhou X.N., Tedder T.F., Maurer M., Galli S.J., et al. A role for CD21/CD35 and CD19 in responses to acute septic peritonitis: a potential mechanism for mast cell activation. J Immunol 165 (2000) 6915-6921
10. Supajatura V., Ushio H., Nakao A., Okumura K., Ra C., and Ogawa H. Protective roles of mast cells against enterobacterial infection are mediated by Toll-like receptor 4. J Immunol 167 (2001) 2250-2256
11. Varadaradjalou S., Féger F., Thieblemont N., Ben Hamouda N., Pleau J.M., Dy M., et al. Toll-like receptor 2 (TLR2) and TLR4 differentially activate human mast cells. Eur J Immunol 33 (2003) 899-906
12. Boyce J.A. Mast cells: beyond IgE. J Allergy Clin Immunol 111 (2003) 24-33
13. Roberts L.J. Carcinoid syndrome and disorders of systemic mast-cell activation including systemic mastocytosis. Endocrinol Metab Clin North Am 17 (1988) 415-436
14. Metcalfe D.D. Clinical advances in mastocytosis: an interdisciplinary roundtable discussion. J Invest Dermatol 96 suppl (1991) 1S-65S
15. Kassab D., Koterba A., Jiang Y., and Akin C. Elevated baseline tryptase levels in patients with mast cell activation syndromes without evidence of mastocytosis. [abstract]. J Allergy Clin Immunol 121 (2008) S67
16. Gonzalez de Olano D., de la Hoz B., Nunez-Lopez R., Sanchez-Munoz L., Cuevas M., Dieguez C., 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 Exp Allergy 37 (2007) 1547-1555
17. Brockow K., Jofer C., Behrendt H., and Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy 63 (2008) 226-232
18. Metcalfe D.D. Classification and diagnosis of mastocytosis: current status. J Invest Dermatol 96 (1991) 2S-4S
19. Akin C., and Metcalfe D.D. Occult bone marrow mastocytosis presenting as recurrent anaphylaxis. [abstract]. J Allergy Clin Immunol 111 (2003) S206
20. Akin C., Scott L.M., Kocabas C.N., Kushnir-Sukhov N., Brittain E., Noel P., et al. Demonstration of an aberrant mast cell population with clonal markers in a subset of patients with "idiopathic" anaphylaxis. Blood 110 (2007) 2331-2333
21. Alvarez-Twose I., Gonzalez de O.D., Sanchez-Munoz L., Teodosio C., Jara-Acevedo M., Sanchez-Matas I., et al. Clinical, biological and molecular characteristics of mast cell activation disorders: a prospective study in 62 patients by the Spanish Network On Mastocytosis (REMA). [abstract]. J Allergy Clin Immunol 123 (2009) S141
22. Sonneck K., Florian S., Mullauer L., Wimazal F., Fodinger M., Sperr W.R., et al. Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: monoclonal mast cell activation syndrome. Int Arch Allergy Immunol 142 (2006) 158-164
23. Valent P., Akin C., Escribano L., Fodinger M., Hartmann K., Brockow K., et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest 37 (2007) 435-453
24. Koterba A.P., and Akin C. Differences in the clinical presentation of anaphylaxis in patients with indolent systemic mastocytosis versus idiopathic anaphylaxis. [abstract]. J Allergy Clin Immunol 121 (2008) S68
25. Bonadonna P., Perbellini O., Passalacqua G., Caruso B., Colarossi S., Dal F.D., et al. Clonal mast cell disorders in patients with systemic reactions to Hymenoptera stings and increased serum tryptase levels. J Allergy Clin Immunol 123 (2009) 680-686
26. Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: report of a WHO Study Group. World Health Organ Tech Rep Ser 843 (1994) 1-129
27. Kanis J.A. Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: synopsis of a WHO report. WHO Study Group. Osteoporos Int 4 (1994) 368-381
28. Miller P.D. Guidelines for the diagnosis of osteoporosis: T-scores vs fractures. Rev Endocr Metab Disord 7 (2006) 75-89
29. Sperr W., Escribano L., Jordan J.H., Schernthaner G.H., Kundi M., Horny H.P., et al. Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis. Leuk Res 25 (2001) 529-536
30. Horny H.P., Sillaber C., Menke D., Kaiserling E., Wehrmann M., Stehberger B., et al. Diagnostic value of immunostaining for tryptase in patients with mastocytosis. Am J Surg Pathol 22 (1998) 1132-1140
31. Horny H.P., and Valent P. Diagnosis of mastocytosis: general histopathological aspects, morphological criteria, and immunohistochemical findings. Leuk Res 25 (2001) 543-551
32. Escribano L., Orfao A., Diaz-Agustin B., Villarrubia J., Cervero C., Lopez A., et al. Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications. Blood 91 (1998) 2731-2736
33. Escribano L., Diaz-Agustin B., López A., López R.N., García-Montero A., Almeida J., et al. Immunophenotypic analysis of mast cells in mastocytosis: when and how to do it: proposals of the Spanish Network on Mastocytosis (REMA). Cytometry 58B (2004) 1-8
34. Sotlar K., Escribano L., Landt O., Möhrle S., Herrero S., Torrelo A., et al. One-step detection of c-kit point mutations using PNA-mediated PCR-clamping and hybridization probes. Am J Pathol 162 (2003) 737-746
35. Garcia-Montero A.C., Jara-Acevedo M., Teodosio C., Sanchez M.L., Nunez R., Prados A., et al. KIT mutation in mast cells and other bone marrow haematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood 108 (2006) 2366-2372
36. Wu Y., Basir Z., Kajdacsy-Balla A., Strawn E., Macias V., Montgomery K., et al. Resolution of clonal origins for endometriotic lesions using laser capture microdissection and the human androgen receptor (HUMARA) assay. Fertil Steril 79 suppl 1 (2003) 710-717
37. Butterfield J.H., and Weiler C.R. Prevention of mast cell activation disorder-associated clinical sequelae of excessive prostaglandin D(2) production. Int Arch Allergy Immunol 147 (2008) 338-343
38. Sampson H.A., Munoz-Furlong A., Bock S.A., Schmitt C., Bass R., Chowdhury B.A., et al. Symposium on the definition and management of anaphylaxis: summary report. J Allergy Clin Immunol 115 (2005) 584-591
39. Sampson H.A., Munoz-Furlong A., Campbell R.L., Adkinson Jr. N.F., Bock S.A., Branum A., et al. Second symposium on the definition and management of anaphylaxis: summary report-Second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network Symposium. J Allergy Clin Immunol 117 (2006) 391-397
40. Valent P., Horny H.P., Escribano L., Longley-BJ J., Li C.L., Schwartz L.B., et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res 25 (2001) 603-625
41. Horny H.P., Metcalfe D.D., Bennet J.M., Bain B.J., Akin C., Escribano L., et al. Mastocytosis. In: Swerdlow S.H., Campo E., Harris N.L., Jaffe E.S., Pileri S.A., Stein H., et al. (Eds). WHO classification of tumours of haematopoietic and lymphoid tissues (2008), IARC, Lyon 54-63
42. Gaig P., Muñoz-Lejarazu D., Lleonart R., García Abujeta J.L., Caballero T., Rodríguez A., et al. Prevalencia de alergia en la población adulta española. Alergol Inmunol Clin 19 (2004) 68-74
43. Florian S., Krauth M.T., Simonitsch-Klupp I., Sperr W.R., Fritsche-Polanz R., Sonneck K., et al. Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. Int Arch Allergy Immunol 136 (2005) 273-280
44. Greenhawt M., and Akin C. Mastocytosis and allergy. Curr Opin Allergy Clin Immunol 7 (2007) 387-392
45. Escribano L., Avarez-Twose I., Sanchez-Munoz L., Garcia-Montero A., Nunez R., Almeida J., et al. Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. J Allergy Clin Immunol 124 (2009) 514-521
46. Hungness S.I., Singer A.M., and Akin C. Food-dependent exercise-induced anaphylaxis associated with clonal mast cells carrying an activating c-Kit mutation. [abstract]. J Allergy Clin Immunol 119 (2007) S29