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Advanced mast cell disease: an Italian Hematological Multicenter experience

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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.

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Acknowledgments

This work was supported by a grant from the Ministry of University and Scientific and Technological Research (MURST) of Italy.

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Authors and Affiliations

  1. Istituto di Ematologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy

    Livio Pagano, Caterina Giovanna Valentini, Morena Caira, Luana Fianchi & Giuseppe Leone

  2. Istituto di Ematologia L. e A. Seragnoli, Università di Bologna, Bologna, Italy

    Michela Rondoni & Giovanni Martinelli

  3. Centro Trapianti di Midollo, Ospedale S. Martino, Genova, Italy

    Maria Teresa Van Lint

  4. Clinica di Ematologia, Università di Udine, Udine, Italy

    Anna Candoni

  5. Divisione di Ematologia, Ospedale di Alessandria, Alessandria, Italy

    Bernardino Allione

  6. Divisione di Ematologia, Spedali Civili di Brescia, Brescia, Italy

    Chiara Cattaneo

  7. Divisione di Ematologia, Ospedale Niguarda Ca’ Grande, Milan, Italy

    Laura Marbello

  8. Cattedra di Ematologia, Università di Parma, Parma, Italy

    Cecilia Caramatti

  9. Divisione di Ematologia, Ospedale S. Gerardo, Monza, Italy

    Enrico Maria Pogliani

  10. Divisione di Ematologia e TMO, Policlinico di Palermo, Palermo, Italy

    Emilio Iannitto

  11. Istituto di Ematologia, Università “La Sapienza”, Rome, Italy

    Fiorina Giona & Alessandro Pulsoni

  12. Divisione di Ematologia, Ospedale Cardarelli, Naples, Italy

    Felicetto Ferrara

  13. Divisione di Medicina Interna ed Oncologia Medica, Università di Pavia, IRCCS Policlinico S. Matteo, Pavia, Italy

    Rosangela Invernizzi

  14. Unità Operativa di Ematologia, Università di Firenze, Florence, Italy

    Rosa Fanci

  15. Divisione di Ematologia, Università degli Studi del Piemonte Orientale Amedeo Avogadro, Novara, Italy

    Monia Lunghi

  16. Divisione di Ematologia e TMO, IRCCS Ospedale Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy

    Grazia Sanpaolo

  17. Divisione di Ematologia, Ospedale Ca’ Foncello, Treviso, Italy

    Pietro Maria Stefani

  18. Centro di Riferimento Oncologico di Basilicata, Rionero in Vulnure, Potenza, Italy

    Pellegrino Musto

Authors
  1. Livio Pagano
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  2. Caterina Giovanna Valentini
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  5. Maria Teresa Van Lint
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  6. Anna Candoni
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  7. Bernardino Allione
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  8. Chiara Cattaneo
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  9. Laura Marbello
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  10. Cecilia Caramatti
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  11. Enrico Maria Pogliani
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  12. Emilio Iannitto
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  13. Fiorina Giona
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  14. Felicetto Ferrara
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  16. Rosa Fanci
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  17. Monia Lunghi
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  19. Grazia Sanpaolo
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  22. Giovanni Martinelli
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  23. Giuseppe Leone
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  24. Pellegrino Musto
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Corresponding author

Correspondence to Livio Pagano.

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Pagano, L., Valentini, C.G., Caira, M. et al. Advanced mast cell disease: an Italian Hematological Multicenter experience. Int J Hematol 88, 483–488 (2008). https://doi.org/10.1007/s12185-008-0166-4

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  • DOI: https://doi.org/10.1007/s12185-008-0166-4

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