Mastocytosis in children and adults: Clinical disease heterogeneity

Archives of Medical Science

Volumn 8, Issue 3, 2012, Pages 533-541

  Lange, Magdalena ^a   Nedoszytko, Bogusław ^a   Górska, Aleksandra ^a   Zawrocki, Anton ^a   Sobjanek, Michał ^a   Kozłowski, Dariusz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

Adults; Children; Classification; Clinics; Mastocytosis; Treatment

Indexed keywords

ANTIHISTAMINIC AGENT; BISPHOSPHONIC ACID DERIVATIVE; CLADRIBINE; CROMOGLYCATE DISODIUM; CYTARABINE; DASATINIB; FLUDARABINE; GLUCOCORTICOID; HYDROXYUREA; MIDOSTAURIN; PROTON PUMP INHIBITOR; PSORALEN; RECOMBINANT ALPHA INTERFERON;

ADULT DISEASE; AGGRESSIVE SYSTEMIC MASTOCYTOSIS; ASCITES; CHILDHOOD DISEASE; CLINICAL FEATURE; CLINICAL PRACTICE; CUTANEOUS MASTOCYTOSIS; DIARRHEA; DIFFUSE CUTANEOUS MASTOCYTOSIS; DISEASE CLASSIFICATION; DISEASE COURSE; DRUG TARGETING; EXTRACUTANEOUS MASTOCYTOMA; GASTROINTESTINAL SYMPTOM; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HYPOTENSION; INDOLENT SYSTEMIC MASTOCYTOSIS; LEUKEMIA; MACULOPAPULAR CUTANEOUS MASTOCYTOSIS; MALABSORPTION; MAST CELL; MASTOCYTOMA; MASTOCYTOSIS; MASTOCYTOSIS LEUKEMIA; MASTOCYTOSIS SARCOMA; NODULAR CUTANEOUS MASTOCYTOSIS; OSTEOPENIA; OSTEOPOROSIS; PALLIATIVE THERAPY; PHOTOTHERAPY; RECURRENT DISEASE; REVIEW; SARCOMA; SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGICAL NON MASTOCYTOSIS LINEAGE DISEASE; TELANGIECTATIC CUTANEOUS MASTOCYTOSIS; THERAPY EFFECT;

EID: 84863979076     PISSN: 17341922     EISSN: None     Source Type: Journal    
DOI: 10.5114/aoms.2012.29534     Document Type: Review

References (50)

1. 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: 435-53. (Pubitemid 46817344)
2. Pardanani A, Akin C, Valent P. Pathogenesis, clinical features, and treatment advances in mastocytosis. Best Pract Res Clin Haematol 2006; 19: 595-615. (Pubitemid 43869476)
3. Escribano L, Akin C, Castells M, Orfao A, Metcalfe DD. Mastocytosis: current concepts in diagnosis and treatment. Ann Hematol 2002; 81: 677-90. (Pubitemid 36104422)
4. Horny HP, Sotlar K, Valent P, Hartmann K. Mastocytosis a disease of the hematopoietic stem cell. Dtsch Arztebl Int 2008; 105: 686-92.
5. Hartmann K, Henz BM. Mastocytosis: recent advances in defining the disease. Br J Dermatol 2001; 144: 682-95. (Pubitemid 32374769)
6. Hartmann K, Metcalfe DD. Pediatric mastocytosis. Hematol Oncol Clin North Am 2000; 14: 625-40. (Pubitemid 30436937)
7. Carter MC, Metcalfe DD. Paediatric mastocytosis. Arch Dis Child 2002; 86: 315-9. (Pubitemid 34478221)
8. Longley BJ Jr, 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: 1609-14. (Pubitemid 29098499)
9. Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations. Proposed mechanisms of action and implications for disease classification and therapy. Leuk Res 2001; 25: 571-6. (Pubitemid 32506764)
10. Sotlar K, Colak S, Bache A, et al. Variable presence of KIT(D816V) in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). J Pathol 2010; 220: 586-95.
11. Bodemar CH, Hermine O, Palmerini F, et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol 2010; 130: 804-15.
12. Nedoszytko B, Niedoszytko M, Lange M, et al. Interleukin 13 promoter gene polymorphism - 1112C/T is associated with the systemic form of mastocytosis. Allergy 2009; 64: 287-94.
13. Hartmann K, Hermes B, Rappersberger K, Sepp N, Mekori YA, Henz BM. Evidence for altered mast cell proliferation and apoptosis in cutaneous mastocytosis Br J Dermatol 2003; 149: 554-9. (Pubitemid 37281587)
14. Cervero C, Escribano L, San Miguel JF, et al. Expression of bcl-2 by human bone marrow mast cells and its overexpression in mast cell leukemia. Am J Hematol 1999; 60: 191-5. (Pubitemid 29108768)
15. Lange M, Niedoszytko M, Nedoszytko B, Glen J. Aethiopathogenesis of mastocytosis: current options. Post Dermatol Alergol 2009; 26: 142-5.
16. Valent P, Akin C, Sperr WR, et al. Diagnosis and treatment of systemic mastocytosis: state of the art. Br J Haematol 2003; 122: 695-717. (Pubitemid 37100296)
17. Middelkamp Hup MA, Heide R, Tank B, Mulder PGH, Oranje AP. Comparison of mastocytosis with onset in children and adults. J Eur Acad Dermatol Venereol 2002; 16: 115-20. (Pubitemid 34460708)
18. Valent P, Horny HP, Li CY, et al. Mastocytosis (Mast cell disease). World Health Organization (WHO) classification of tumors. Pathology and genetics. In: Tumors of haematopoietic and lymphoid tissues. Jaffe ES, Haris NL, Stein H, Vardiman JW (eds). Lyon: IARC Press 2001; 291-302.
19. Heide R, Beishuizen A, de Groot H, et al. Mastocytosis in children: a protocol for management. Pediatr Dermatol 2008; 25: 493-500.
20. Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res 2001; 25: 519-28. (Pubitemid 32506758)
21. Hartmann K, Henz BM. Classification of cutaneous mastocytosis: a modified consensus proposal. Luek Res 2002; 26: 483-4.
22. 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: 285-90. (Pubitemid 38618323)
23. Hartmann K, Henz BM. Cutaneous mastocytosis - clinical heterogeneity. Int Arch Allergy Immunol 2002; 127: 143-6. (Pubitemid 34264204)
24. Hannaford R, Rogers M. Presentation of cutaneous mastocytosis in 173 children. Australas J Dermatol 2001; 42: 15-21. (Pubitemid 32165280)
25. Waxtein LM, Vega-Memije ME, Cortes-Franco R, Domingues-Soto L. Diffuse cutaneous mastocytosis with bone marrow infiltration in a child: a case report. Pediatr Dermatol 2000; 3: 198-201. (Pubitemid 30436597)
26. Murphy M, Walsh D, Drumm B, Watson. Bullous mastocytosis: a fatal outcome. Pediatr Dermatol 1999; 16: 452-5. (Pubitemid 30030328)
27. Shah PY, Sharma V, Worobec AS, Metcalfe DD, Zwick DC. Congenital bullous mastocytosis with myeloproliferative disorder and c-kit mutation. J Am Acad Dermatol 1998; 39: 119-21. (Pubitemid 28332319)
28. Heide R, Zuidema E, Beishuizen, et al Clinical aspects of diffuse cutaneous mastocytosis in children: two variants. Dermatology 2009; 219: 309-15.
29. Heide R, Middelkamp Hup MA, Mulder PGH, Oranje AP. Clinical scoring of cutaneous mastocytosis. Acta Derm Venereol 2001; 81: 273-6. (Pubitemid 32977107)
30. Heide R, van Dorn K, Mulder PG, et al. Serum tryptase and SCORMA (SCORing MAstocytosis) Index as disease severity parameters in childhood and adult cutaneous mastocytosis. Clin Exp Dermatol 2008; 34: 462-8.
31. Lange M, Renke J, Glen J, Niedoszytko M, Nedoszytko B. Serum tryptase, interleukin 6 and SCORMA Index as disease severity parameters in childhood mastocytosis. Post Dermatol Alergol 2010; 27: 338-45.
32. Metcalfe DD, Akin C. Mastocytosis: molecular mechanisms and clinical disease heterogeneity. Leuk Res 2001; 25: 577-82. (Pubitemid 32506765)
33. Brockow K, Akin C, Huber M, Metcalfe DD. Assessment of the extent of cutaneous involvement in children and adults with mastocytosis: relationship to symptomatology, tryptase levels, and bone marrow pathology. J Am Acad Dermatol 2003; 48: 508-16. (Pubitemid 36397011)
34. Brockow K, Scott LM, Worobec AS, Kirshenbaum A, Akin C, Huber M. Regression of urticaria pigmentosa in adult patients with systemic mastocytosis: correlation with clinical patterns of disease. Arch Dermatol 2002; 138: 785-90. (Pubitemid 34625523)
35. Sperr WR, Horny HP, Lechner K, Valent P. Clinical and biologic diversity of leukemias occurring in patients with mastocytosis. Leuk Lymphoma 2000; 37: 473-86. (Pubitemid 30219056)
36. Horny HP, Sotlar K, Sperr WR, Valent P. Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: histopathological challenge. J Clin Pathol 2004; 57: 604-8. (Pubitemid 38725760)
37. Valent P, Sperr WR, Schwartz LB, Horny HP. Diagnosis and classification of mast cell proliferative disorders: Delineation from immunologic diseases and non-mast cell hematopoietic neoplasms. J Allergy Clin Immunol 2004; 114: 3-11. (Pubitemid 39005111)
38. Feger F, Dumas AR, Leriche L, Valent P, Arock M. Kit and c-kit mutations in mastocytosis: a short overview with special reference to novel molecular and diagnostic concepts. Int Arch Allergy Immunol 2002; 127: 110-4. (Pubitemid 34264196)
39. Orfao A, Garcia-Montero AC, Sanchez L, Escribano L. Recent advances in the understanding of mastocysis: the role of KIT mutations. Br J Haematol 2007; 138: 12-30. (Pubitemid 46889785)
40. Valent P, Akin C, Sperr WR, et al. Aggressive systemic mastocytosios and related mast cell didorders: current treatment options and propose response criteria. Leuk Res 2003; 27: 635-41. (Pubitemid 36398099)
41. Horny P. Mastocytosis an unusual clonal disorder of bone marrow-derived hematopoietic progenitor cell. Am J Clin Pathol 2009; 132: 438-47.
42. Arock M, Valent P. Pathogenesis, classification and treatment of mastocytosis: state of the art in 2010 and future perspectives. Expert Rev Hematol 2010; 3: 497-516.
43. Metcalfe DD. Mast cells and mastocytosis. Blood 2008; 112: 946-56.
44. Wolf K. Treatment of cutaneous mastocytosis. Int Arch Immunol 2002; 127: 156-9.
45. Hartmann K, Siebenhaar F, Belloni B. Effects if topical treatment with raft modulator miltefosine and clobetasol in cutaneous mastocytosis: a randomized, double-blind, placebo-controlled trial. Br J Dermatol 2010; 162: 185-90.
46. Niedoszytko M, de Monchy J, van Doormaal JJ, Jassem E, Oude Elbering JN. Mastocytosis and insect venom allergy: diagnosis, safety, and efficacy of venom immunotherapy. Allergy 2009; 64: 1237-45.
47. Valent P, Akin C, Sperr WR, et al. Mastocytosis: pathology, genetics, and current options for therapy. Leuk Lymphoma 2005; 46: 35-48.
48. Gleixner KV, Mayerhofer M, Aichberger KJ, et al. PKC412 inhibits in vitro growth of neoplastic human mast cells expressing the D816V-mutated variant of KIT: comparison with AMN107, imatinib, and cladribine (2Cda) and evaluation of cooperative drug effects. Blood 2006; 107: 752-9. (Pubitemid 43076402)
49. Aichberger KJ, Gleixner KV, Mirkina I, et al. Identification of proapoptotic Bim as a tumor suppressor in neoplastic mast cells: role of KIT D816V and effects of various targeted drugs. Blood 2009; 114: 5342-51.
50. Shah NP, Lee FY, Luo R, Jiang Y, Donker M, Akin C. Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis. Blood 2006; 108: 286-91. (Pubitemid 43990640)