Advanced mast cell disease: an Italian Hematological Multicenter experience.
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, alpha-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.
Pagano
Livio
L
Istituto di Ematologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy. lpagano@rm.unicatt.it.
Valentini
Caterina Giovanna
CG
Istituto di Ematologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy.
Caira
Morena
M
Istituto di Ematologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy.
Rondoni
Michela
M
Istituto di Ematologia L. e A. Seragnoli, Università di Bologna, Bologna, Italy.
Van Lint
Maria Teresa
MT
Centro Trapianti di Midollo, Ospedale S. Martino, Genova, Italy.
Candoni
Anna
A
Clinica di Ematologia, Università di Udine, Udine, Italy.
Allione
Bernardino
B
Divisione di Ematologia, Ospedale di Alessandria, Alessandria, Italy.
Cattaneo
Chiara
C
Divisione di Ematologia, Spedali Civili di Brescia, Brescia, Italy.
Marbello
Laura
L
Divisione di Ematologia, Ospedale Niguarda Ca' Grande, Milan, Italy.
Caramatti
Cecilia
C
Cattedra di Ematologia, Università di Parma, Parma, Italy.
Pogliani
Enrico Maria
EM
Divisione di Ematologia, Ospedale S. Gerardo, Monza, Italy.
Iannitto
Emilio
E
Divisione di Ematologia e TMO, Policlinico di Palermo, Palermo, Italy.
Giona
Fiorina
F
Istituto di Ematologia, Università "La Sapienza", Rome, Italy.
Ferrara
Felicetto
F
Divisione di Ematologia, Ospedale Cardarelli, Naples, Italy.
Invernizzi
Rosangela
R
Divisione di Medicina Interna ed Oncologia Medica, Università di Pavia, IRCCS Policlinico S. Matteo, Pavia, Italy.
Fanci
Rosa
R
Unità Operativa di Ematologia, Università di Firenze, Florence, Italy.
Lunghi
Monia
M
Divisione di Ematologia, Università degli Studi del Piemonte Orientale Amedeo Avogadro, Novara, Italy.
Fianchi
Luana
L
Istituto di Ematologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy.
Sanpaolo
Grazia
G
Divisione di Ematologia e TMO, IRCCS Ospedale Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy.
Stefani
Pietro Maria
PM
Divisione di Ematologia, Ospedale Ca' Foncello, Treviso, Italy.
Pulsoni
Alessandro
A
Istituto di Ematologia, Università "La Sapienza", Rome, Italy.
Martinelli
Giovanni
G
Istituto di Ematologia L. e A. Seragnoli, Università di Bologna, Bologna, Italy.
Leone
Giuseppe
G
Istituto di Ematologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy.
Musto
Pellegrino
P
Centro di Riferimento Oncologico di Basilicata, Rionero in Vulnure, Potenza, Italy.
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D000970:Antineoplastic Agents / Q000008:administration & dosage; D000998:Antiviral Agents / Q000008:administration & dosage; D001549:Benzamides; D018572:Disease-Free Survival; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D000068877:Imatinib Mesylate; D016898:Interferon-alpha / Q000008:administration & dosage; D007558:Italy; D008099:Liver / Q000378:metabolism; D008297:Male; D008415:Mastocytosis / Q000235:genetics* / Q000378:metabolism / Q000401:mortality* / Q000628:therapy; D008875:Middle Aged; D010879:Piperazines / Q000008:administration & dosage; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics* / Q000378:metabolism; D011743:Pyrimidines / Q000008:administration & dosage; D012074:Remission Induction; D012189:Retrospective Studies; D013154:Spleen / Q000378:metabolism; D015996:Survival Rate; D014184:Transplantation, Homologous
D000970:Antineoplastic Agents; D000998:Antiviral Agents; D001549:Benzamides; D016898:Interferon-alpha; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit