medigraphic.com

2013, Number 1

<< Back Next >>

Rev Hematol Mex 2013; 14 (1)

Urticaria pigmentosa demonstrated by matching mutation. Case report and review of the medical literature

Palacios-Boix A, Garcés-Eisele J

Language: Spanish
References: 14
Page: 43-46
PDF size: 650.24 Kb.


ABSTRACT

We present a case of indolent Systemic Mastocytosis (ISM) that was readily documented by mutation analysis of allele-specific PCR disclosing KITD816V in his peripheral blood. Clinical and laboratory characteristics are discussed, along with the prognostic implications of this cytogenetic finding. This patient illustrates the relevance of disclosing molecular markers in patients with hematologic diseases that harbor the inherent potential to undergo malignant transformation.


REFERENCES

  1. Lawrence JB, Friedman BS, Travis WD, et al. Hematologic manifestations of mast cell disease: a prospective study of laboratory and morphologic features and their relation to prognosis. Am J Med 1991;91:612- 624.

  2. Escribano L, Akin C, Castells M, et al. Mastocytosis: current concepts in diagnosis and treatment. Ann Hematol 2012;81:677-690.

  3. Pardanani A, Akin C, Valent P. Pathogenesis, clinical features, and treatment advances in mastocytosis. Best Prac Res Clin Haematol 2006;19:595-615.

  4. Czarnetzki BM, Kolde G, Schoemann A, et al. Bone marrow findings in adult patients with urticaria pigmentosa. J Am Acad Dermatol 1988;18:45-51.

  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 USA 1995;92:10560-10564.

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

  7. 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.

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

  9. García-Montero AC, Jara-Acevedo M, Teodosio C, et al. KIT mutation in mast cells and other bone marrow haemotopoietic 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.

  10. Ustun C, Corless CL, Savage N, et al. Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816V. Leuk Res 2009;33:735-741.

  11. Kontou-Fili K. High omalizumab dose controls recurrent reactions due to venom immunotherapy in indolent systemic mastocytosis. Allergy 2008;63:376-378.

  12. Valent P, Sperr WA, Akin C. How I treat patients with advanced systemic mastocytosis. Blood 2010;116:5812-5817.

  13. Pardanani A, Elliot M, Reeder T, et al. Imatinib for systemic mast-cell disease. Lancet 2003;362:535-536.

  14. Patniak MM, Rindos M, Kouides PA, et al. Systemic mastocytosis: a concise clinical and laboratory review. Arch Pathol Lab Med 2007;131:784-791.




2020     |     www.medigraphic.com