Advanced mast cell disease: An Italian Hematological Multicenter experience

Livio Pagano, Caterina Giovanna Valentini, Morena Caira, Michela Rondoni, Maria Teresa Van Lint, Anna Candoni, Bernardino Allione, Chiara Cattaneo, Laura Marbello, Cecilia Caramatti, Enrico Maria Pogliani, Emilio Iannitto, Fiorina Giona, Felicetto Ferrara, Rosangela Invernizzi, Rosa Fanci, Monia Lunghi, Luana Fianchi, Grazia Sanpaolo, Pietro Maria StefaniAlessandro Pulsoni, Giovanni Martinelli, Giuseppe Leone, Pellegrino Musto

Research output: Contribution to journalArticlepeer-review

Abstract

The aim of the study is to evaluate clinical features, treatments and outcome of patients with systemic mast cell disease (MCD) who arrived to the attention of hematologists. A retrospective study was conducted over 1995-2006 in patients admitted in 18 Italian hematological divisions. Twenty-four cases of advanced MCD were collected: 12 aggressive SM (50%), 8 mast cell leukemia (33%), 4 SM with associated clonal non-mast cell-lineage hematologic disease (17%). Spleen and liver were the principal extramedullary organ involved. The c-kit point mutation D816V was found in 13/18 patients in which molecular biology studies were performed (72%). Treatments were very heterogeneous: on the whole Imatinib was administered in 17 patients, α-Interferon in 8, 2-CdA in 3; 2 patients underwent allogeneic hematopoietic stem cell transplantation. The overall response rate to Imatinib, the most frequently employed drugs, was of 29%, registering one complete remission and four partial remission; all responsive patients did not present D816V c-kit mutation. Overall three patients (12%) died for progression of disease. We conclude that MCD is characterized by severe mediator-related symptoms but with a moderate mortality rate. D816V c-kit mutation is frequent and associated with resistance against Imatinib. Because of the rarity of these forms, an effective standard of care is lacking. More data are needed to find new and successful therapeutic strategies.

Original languageEnglish
Pages (from-to)483-488
Number of pages6
JournalInternational Journal of Hematology
Volume88
Issue number5
DOIs
Publication statusPublished - Dec 2009

Keywords

  • Mast cell disease
  • Therapy
  • Tyrosine kinase inhibitors

ASJC Scopus subject areas

  • Hematology

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