Current approaches to the diagnosis and treatment of systemic mastocytosis

Annals of Allergy, Asthma and Immunology

Volumn 104, Issue 1, 2010, Pages 1-10

  Bains, Sonia N ^a   Hsieh, Fred H ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENALIN; ALPHA ADRENERGIC RECEPTOR BLOCKING AGENT; AMPHOTERICIN B; ATRACURIUM; CHOLINERGIC RECEPTOR BLOCKING AGENT; CODEINE; CONTRAST MEDIUM; DEXTROMETHORPHAN; DIMETHYLTUBOCURARINE CHLORIDE; DOXACURIUM; ENFLURANE; ETOMIDATE; FENTANYL; KETOROLAC; MIVACURIUM; MORPHINE; NARCOTIC AGENT; NONSTEROID ANTIINFLAMMATORY AGENT; POLYMYXIN B; PROPOFOL; QUININE; ROCURONIUM; SUXAMETHONIUM; THIOPENTAL; TRAMADOL; TRYPTASE; TUBOCURARINE CHLORIDE; UNINDEXED DRUG; VANCOMYCIN; VECURONIUM;

ABDOMINAL PAIN; ANAPHYLAXIS; BONE MARROW BIOPSY; CELL PROLIFERATION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIARRHEA; DISEASE COURSE; HOT FLUSH; HUMAN; MAST CELL; MAST CELL DEGRANULATION; PALLIATIVE THERAPY; PRIORITY JOURNAL; PROGNOSIS; PUBERTY; REVIEW; SKIN BIOPSY; SYMPTOM; SYNCOPE; SYSTEMIC MASTOCYTOSIS; URTICARIA PIGMENTOSA;

EID: 76749152847     PISSN: 10811206     EISSN: 15344436     Source Type: Journal    
DOI: 10.1016/j.anai.2009.11.006     Document Type: Review

References (50)

1. Metcalfe DD. Mast cells and mastocytosis. Blood. 2008;112: 946-956.
2. 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.
3. Valent P, Horny HP, Escribano L, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25: 603-625.
4. Pardanani A, Akin C, Valent P. Pathogenesis, clinical features, and treatment advances in mastocytosis. Best Pract Res Clin Haematol. 2006;19:595-615.
5. 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 U S A. 1995;92:10560-10564.
6. Garcia-Montero AC, 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: 2366-2372.
7. Piao X, Paulson R, van der GP, Pawson T, Bernstein A. Oncogenic mutation in the Kit receptor tyrosine kinase alters substrate specificity and induces degradation of the protein tyrosine phosphatase SHP-1. Proc Natl Acad Sci U S A. 1996;93:14665-14669.
8. Tefferi A, Levine RL, Lim KH, et al. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. Leukemia. 2009;23:900-904.
9. Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. J Invest Dermatol. 1991;96(3 suppl):15S-8S.
10. Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res. 2001;25:519-528.
11. Brockow K. Urticaria pigmentosa. Immunol Allergy Clin North Am. 2004;24:287-316.
12. Chang A, Tung RC, Schlesinger T, Bergfeld WF, Dijkstra J, Kahn TA. Familial cutaneous mastocytosis. Pediatr Dermatol. 2001;18: 271-276.
13. Turchin I, Barankin B, Schloss E. Unusual cutaneous findings of urticaria pigmentosa and telangiectasia macularis eruptiva perstans associated with marked myelofibrosis. Int J Dermatol. 2006;45: 1215-1217.
14. Demis DJ. The mastocytosis syndrome. clinical and biological studies. Ann Intern Med. 1963;59:194-206.
15. Mutter RD, Tannenbaum M, Ultmann JE. Systemic mast cell disease. Ann Intern Med. 1963;59:887-906.
16. Horan RF, Austen KF. Systemic mastocytosis: retrospective review of a decade's clinical experience at the Brigham and Women's Hospital. J Invest Dermatol. 1991;96(3 suppl):5S-13S.
17. Cherner JA, Jensen RT, Dubois A, O'Dorisio TM, Gardner JD, Metcalfe DD. Gastrointestinal dysfunction in systemic mastocytosis: a prospective study. Gastroenterology. 1988;95:657-667.
18. Travis WD, Li CY, Bergstralh EJ, Yam LT, Swee RG. Systemic mast cell disease: analysis of 58 cases and literature review. Medicine (Baltimore). 1988;67:345-368.
19. Pagano L, Valentini CG, Caira M, et al. Advanced mast cell disease: an Italian Hematological Multicenter experience. Int J Hematol. 2008;88: 483-488.
20. Webb TA, Li CY, Yam LT. Systemic mast cell disease: a clinical and hematopathologic study of 26 cases. Cancer. 1982;49:927-938.
21. Lim KH, Tefferi A, Lasho TL, et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood. 2009; 113:5727-5736.
22. Yam LT, Chan CH, Li CY. Hepatic involvement in systemic mast cell disease. Am J Med. 1986;80:819-826.
23. Akoglu G, Erkin G, Cakir B, et al. Cutaneous mastocytosis: demographic aspects and clinical features of 55 patients. J Eur Acad Dermatol Venereol. 2006;20:969-973.
24. Kiszewski AE, Varez-Mendoza A, Rios-Barrera VA, Hernandez-Pando R, Ruiz-Maldonado R. Mastocytosis in children: clinicopathological study based on 35 cases. Histol Histopathol. 2007;22:535-539.
25. Kiszewski AE, Duran-Mckinster C, Orozco-Covarrubias L, Gutierrez-Castrellon P, Ruiz-Maldonado R. Cutaneous mastocytosis in children: a clinical analysis of 71 cases. J Eur Acad Dermatol Venereol. 2004;18: 285-290.
26. Ben-Amitai D, Metzker A, Cohen HA. Pediatric cutaneous mastocytosis: a review of 180 patients. Isr Med Assoc J. 2005;7: 320-322.
27. Brockow K, Jofer C, Behrendt H, Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy. 2008;63:226-232.
28. Worobec AS, Akin C, Scott LM, Metcalfe DD. Mastocytosis complicating pregnancy. Obstet Gynecol. 2000;95:391-395.
29. Wagner N, Fritze D, Przybilla B, Hagedorn M, Rueff F. Fatal anaphylactic sting reaction in a patient with mastocytosis. Int Arch Allergy Immunol. 2008;146:162-163.
30. Bilo MB, Brianzoni F, Cinti B, Napoli G, Bonifazi F. The dilemma of the negative skin test reactors with a history of venom anaphylaxis: will this always be the case? Eur Ann Allergy Clin Immunol. 2005;37: 341-342.
31. Kors JW, van Doormaal JJ, de Monchy JG. Anaphylactoid shock following Hymenoptera sting as a presenting symptom of systemic mastocytosis. J Intern Med. 1993;233:255-258.
32. Florian S, Krauth MT, Simonitsch-Klupp 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.
33. Bonadonna P, Perbellini O, Passalacqua G, et al. Clonal mast cell disorders in patients with systemic reactions to Hymenoptera stings and increased serum tryptase levels. J Allergy Clin Immunol. 2009;123: 680-686.
34. Akin C, Scott LM, Kocabas CN, et al. Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with "idiopathic" anaphylaxis. Blood. 2007;110:2331-2333.
35. Webb LM, Lieberman P. Anaphylaxis: a review of 601 cases. Ann Allergy Asthma Immunol. 2006;97:39-43.
36. Schwartz LB, Sakai K, Bradford TR, et al. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. J Clin Invest. 1995;96:2702-2710.
37. Sperr WR, Jordan JH, 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: 136-141.
38. Schwartz LB. Diagnostic value of tryptase in anaphylaxis and mastocytosis. Immunol Allergy Clin North Am. 2006;26:451-463.
39. Escribano L, Akin C, Castells M, Orfao A, Metcalfe DD. Mastocytosis: current concepts in diagnosis and treatment. Ann Hematol. 2002;81: 677-690.
40. Zuluaga TT, Hsieh FH, Bodo J, Dong HY, Hsi ED. Detection of phospho-STAT5 in mast cells: a reliable phenotypic marker of systemic mast cell disease that reflects constitutive tyrosine kinase activation. Br J Haematol. 2007;139:31-40.
41. Horny HP, Valent P. Diagnosis of mastocytosis: general histopathological aspects, morphological criteria, and immunohistochemical findings. Leuk Res. 2001;25:543-551.
42. Marone G, Stellato C, Mastronardi P, Mazzarella B. Nonspecific histamine-releasing properties of general anesthetic drugs. Clin Rev Allergy. 1991;9:269-280.
43. Stellato C, Marone G. Mast cells and basophils in adverse reactions to drugs used during general anesthesia. Chem Immunol. 1995;62:108-131.
44. Stellato C, de PA, Cirillo R, Mastronardi P, Mazzarella B, Marone G. Heterogeneity of human mast cells and basophils in response to muscle relaxants. Anesthesiology. 1991;74:1078-1086.
45. Wilson TM, Metcalfe DD, Robyn J. Treatment of systemic mastocytosis. Immunol Allergy Clin North Am. 2006;26:549-573.
46. Pardanani A, Elliott M, Reeder T, et al. Imatinib for systemic mast-cell disease. Lancet. 2003;362(9383):535-536.
47. Kluin-Nelemans HC, Jansen JH, Breukelman H, et al. Response to interferon alfa-2b in a patient with systemic mastocytosis. N Engl J Med. 1992;326:619-623.
48. Kluin-Nelemans HC, Oldhoff JM, van Doormaal JJ, et al. Cladribine therapy for systemic mastocytosis. Blood. 2003;102:4270-4276.
49. Friedman B, Darling G, Norton J, Hamby L, Metcalfe D. Splenectomy in the management of systemic mast cell disease. Surgery. 1990;107:94-100.
50. Ronnov-Jessen D, Lovgreen NP, Horn T. Persistence of systemic mastocytosis after allogeneic bone marrow transplantation in spite of complete remission of the associated myelodysplastic syndrome. Bone Marrow Transplant. 1991;8:413-415.