Advanced mast cell disease: an Italian Hematological Multicenter experience

• Published in: International journal of hematology Vol. 88; no. 5; pp. 483 - 488
• Main Authors: Pagano, Livio, Valentini, Caterina Giovanna, Caira, Morena, Rondoni, Michela, Van Lint, Maria Teresa, Candoni, Anna, Allione, Bernardino, Cattaneo, Chiara, Marbello, Laura, Caramatti, Cecilia, Pogliani, Enrico Maria, Iannitto, Emilio, Giona, Fiorina, Ferrara, Felicetto, Invernizzi, Rosangela, Fanci, Rosa, Lunghi, Monia, Fianchi, Luana, Sanpaolo, Grazia, Stefani, Pietro Maria, Pulsoni, Alessandro, Martinelli, Giovanni, Leone, Giuseppe, Musto, Pellegrino
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.12.2008; Springer; Springer Nature B.V
• Subjects: Adult; Aged; Amino Acid Substitution; Antineoplastic Agents - administration & dosage; Antiviral Agents - administration & dosage; Benzamides; Biological and medical sciences; Disease-Free Survival; Female; Hematologic and hematopoietic diseases; Hematology; Hematopoietic Stem Cell Transplantation; Humans; Imatinib Mesylate; Interferon-alpha - administration & dosage; Italy; Liver - metabolism; Male; Mastocytosis - genetics; Mastocytosis - metabolism; Mastocytosis - mortality; Mastocytosis - therapy; Medical sciences; Medicine; Medicine & Public Health; Middle Aged; Oncology; Original Article; Piperazines - administration & dosage; Point Mutation; Proto-Oncogene Proteins c-kit - genetics; Proto-Oncogene Proteins c-kit - metabolism; Pyrimidines - administration & dosage; Remission Induction; Retrospective Studies; Spleen - metabolism; Survival Rate; Transplantation, Homologous; Italy; Europe; Therapy; Mast cell disease; Tyrosine kinase inhibitors; Treatment; Hematology; Tyrosine kinase inhibitor; Multicenter study; Advanced stage; Mast cell
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/s12185-008-0166-4

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.