Current approaches to the diagnosis and treatment of systemic mastocytosis

Metcalfe, 2008, Mast cells and mastocytosis, Blood, 112, 946, 10.1182/blood-2007-11-078097 Valent, 2007, Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria, Eur J Clin Invest, 37, 435, 10.1111/j.1365-2362.2007.01807.x Valent, 2001, Diagnostic criteria and classification of mastocytosis: a consensus proposal, Leuk Res, 25, 603, 10.1016/S0145-2126(01)00038-8 Pardanani, 2006, Pathogenesis, clinical features, and treatment advances in mastocytosis, Best Pract Res Clin Haematol, 19, 595, 10.1016/j.beha.2005.07.010 Nagata, 1995, 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, 92, 10560, 10.1073/pnas.92.23.10560 Garcia-Montero, 2006, 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, 108, 2366, 10.1182/blood-2006-04-015545 Piao, 1996, 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, 93, 14665, 10.1073/pnas.93.25.14665 Tefferi, 2009, Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates, Leukemia, 23, 900, 10.1038/leu.2009.37 Kettelhut, 1991, Pediatric mastocytosis, J Invest Dermatol, 96, 15S, 10.1111/1523-1747.ep12468942 Wolff, 2001, Clinical and histopathological aspects of cutaneous mastocytosis, Leuk Res, 25, 519, 10.1016/S0145-2126(01)00044-3 Brockow, 2004, Urticaria pigmentosa, Immunol Allergy Clin North Am, 24, 287, 10.1016/j.iac.2004.01.002 Chang, 2001, Familial cutaneous mastocytosis, Pediatr Dermatol, 18, 271, 10.1046/j.1525-1470.2001.01939.x Turchin, 2006, Unusual cutaneous findings of urticaria pigmentosa and telangiectasia macularis eruptiva perstans associated with marked myelofibrosis, Int J Dermatol, 45, 1215, 10.1111/j.1365-4632.2006.02648.x Demis, 1963, The mastocytosis syndrome, Ann Intern Med, 59, 194, 10.7326/0003-4819-59-2-194 Mutter, 1963, Systemic mast cell disease, Ann Intern Med, 59, 887, 10.7326/0003-4819-59-6-887 Horan, 1991, Systemic mastocytosis: retrospective review of a decade's clinical experience at the Brigham and Women's Hospital, J Invest Dermatol, 96, 5S, 10.1111/1523-1747.ep12468899 Cherner, 1988, Gastrointestinal dysfunction in systemic mastocytosis: a prospective study, Gastroenterology, 95, 657, 10.1016/S0016-5085(88)80012-X Travis, 1988, Systemic mast cell disease: analysis of 58 cases and literature review, Medicine (Baltimore), 67, 345, 10.1097/00005792-198811000-00001 Pagano, 2008, Advanced mast cell disease: an Italian Hematological Multicenter experience, Int J Hematol, 88, 483, 10.1007/s12185-008-0166-4 Webb, 1982, Systemic mast cell disease: a clinical and hematopathologic study of 26 cases, Cancer, 49, 927, 10.1002/1097-0142(19820301)49:5<927::AID-CNCR2820490517>3.0.CO;2-B Lim, 2009, Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors, Blood, 113, 5727, 10.1182/blood-2009-02-205237 Yam, 1986, Hepatic involvement in systemic mast cell disease, Am J Med, 80, 819, 10.1016/0002-9343(86)90622-4 Akoglu, 2006, Cutaneous mastocytosis: demographic aspects and clinical features of 55 patients, J Eur Acad Dermatol Venereol, 20, 969 Kiszewski, 2007, Mastocytosis in children: clinicopathological study based on 35 cases, Histol Histopathol, 22, 535 Kiszewski, 2004, Cutaneous mastocytosis in children: a clinical analysis of 71 cases, J Eur Acad Dermatol Venereol, 18, 285, 10.1111/j.1468-3083.2004.00830.x Ben-Amitai, 2005, Pediatric cutaneous mastocytosis: a review of 180 patients, Isr Med Assoc J, 7, 320 Brockow, 2008, Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients, Allergy, 63, 226, 10.1111/j.1398-9995.2007.01569.x Worobec, 2000, Mastocytosis complicating pregnancy, Obstet Gynecol, 95, 391, 10.1016/S0029-7844(99)00591-8 Wagner, 2008, Fatal anaphylactic sting reaction in a patient with mastocytosis, Int Arch Allergy Immunol, 146, 162, 10.1159/000113520 Bilo, 2005, 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, 37, 341 Kors, 1993, Anaphylactoid shock following Hymenoptera sting as a presenting symptom of systemic mastocytosis, J Intern Med, 233, 255, 10.1111/j.1365-2796.1993.tb00984.x Florian, 2005, Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes, Int Arch Allergy Immunol, 136, 273, 10.1159/000083954 Bonadonna, 2009, Clonal mast cell disorders in patients with systemic reactions to Hymenoptera stings and increased serum tryptase levels, J Allergy Clin Immunol, 123, 680, 10.1016/j.jaci.2008.11.018 Akin, 2007, Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with “idiopathic” anaphylaxis, Blood, 110, 2331, 10.1182/blood-2006-06-028100 Webb, 2006, Anaphylaxis: a review of 601 cases, Ann Allergy Asthma Immunol, 97, 39, 10.1016/S1081-1206(10)61367-1 Schwartz, 1995, 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, 96, 2702, 10.1172/JCI118337 Sperr, 2002, Serum tryptase levels in patients with mastocytosis: correlation with mast cell burden and implication for defining the category of disease, Int Arch Allergy Immunol, 128, 136, 10.1159/000059404 Schwartz, 2006, Diagnostic value of tryptase in anaphylaxis and mastocytosis, Immunol Allergy Clin North Am, 26, 451, 10.1016/j.iac.2006.05.010 Escribano, 2002, Mastocytosis: current concepts in diagnosis and treatment, Ann Hematol, 81, 677, 10.1007/s00277-002-0575-z Zuluaga, 2007, 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, 139, 31, 10.1111/j.1365-2141.2007.06708.x Horny, 2001, Diagnosis of mastocytosis: general histopathological aspects, morphological criteria, and immunohistochemical findings, Leuk Res, 25, 543, 10.1016/S0145-2126(01)00021-2 Marone, 1991, Nonspecific histamine-releasing properties of general anesthetic drugs, Clin Rev Allergy, 9, 269, 10.1007/BF02802307 Stellato, 1995, Mast cells and basophils in adverse reactions to drugs used during general anesthesia, Chem Immunol, 62, 108, 10.1159/000319299 Stellato, 1991, Heterogeneity of human mast cells and basophils in response to muscle relaxants, Anesthesiology, 74, 1078, 10.1097/00000542-199106000-00016 Wilson, 2006, Treatment of systemic mastocytosis, Immunol Allergy Clin North Am, 26, 549, 10.1016/j.iac.2006.05.009 Pardanani, 2003, Imatinib for systemic mast-cell disease, Lancet, 362, 535, 10.1016/S0140-6736(03)14115-3 Kluin-Nelemans, 1992, Response to interferon alfa-2b in a patient with systemic mastocytosis, N Engl J Med, 326, 619, 10.1056/NEJM199202273260907 Kluin-Nelemans, 2003, Cladribine therapy for systemic mastocytosis, Blood, 102, 4270, 10.1182/blood-2003-05-1699 Friedman, 1990, Splenectomy in the management of systemic mast cell disease, Surgery, 107, 94 Ronnov-Jessen, 1991, Persistence of systemic mastocytosis after allogeneic bone marrow transplantation in spite of complete remission of the associated myelodysplastic syndrome, Bone Marrow Transplant, 8, 413