Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients.
BACKGROUND
Indolent systemic mastocytosis is a group of rare diseases for which reliable predictors of progression and outcome are still lacking.


OBJECTIVE
Here we investigate the prognostic impact of the clinical, biological, phenotypic, histopathological, and molecular disease characteristics in adults with indolent systemic mastocytosis, who were followed using conservative therapy.


METHODS
A total of 145 consecutive patients were prospectively followed between January 1983 and July 2008; in addition, from 1967 to 1983, 20 patients were retrospectively studied.


RESULTS
Multivariate analysis showed that serum beta2-microglobulin (P = .003) together with the presence of mast/stem cell growth factor receptor gene (KIT) mutation in mast cells plus myeloid and lymphoid hematopoietic lineages (P = .02) was the best combination of independent parameters for predicting disease progression (cumulative probability of disease progression of 1.7% +/- 1.2% at 5-10 years and of 8.4% +/- 5.0% at 20-25 years). Regarding overall survival, the best predictive model included age >60 years (P = .005) and development of an associated clonal hematological non-mast cell disorder (P = .03) with a cumulative probability of death of 2.2% +/- 1.3% at 5 years and of 11% +/- 5.9% at 25 years.


CONCLUSIONS
Indolent systemic mastocytosis in adults has a low disease progression rate, and the great majority of patients have a normal life expectancy, with the presence of KIT mutation in all hematopoietic lineages and increased serum beta2-microglobulin the most powerful independent parameters for predicting transformation into a more aggressive form of the disease.
Escribano
Luis
L
Centro de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain. lescribanom@sescam.jccm.es
Alvarez-Twose
Iván
I
Sánchez-Muñoz
Laura
L
Garcia-Montero
Andres
A
Núñez
Rosa
R
Almeida
Julia
J
Jara-Acevedo
Maria
M
Teodósio
Cristina
C
García-Cosío
Mónica
M
Bellas
Carmen
C
Orfao
Alberto
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D000998:Antiviral Agents / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D018450:Disease Progression; D004791:Enzyme Inhibitors / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D005260:Female; D006801:Humans; D006918:Hydroxyurea / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D000077190:Interferon alpha-2; D016898:Interferon-alpha / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D008297:Male; D008407:Mast Cells / Q000276:immunology*; D034721:Mastocytosis, Systemic / Q000188:drug therapy / Q000401:mortality* / Q000473:pathology*; D008875:Middle Aged; D015999:Multivariate Analysis; D011379:Prognosis; D011446:Prospective Studies; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D011994:Recombinant Proteins; D012189:Retrospective Studies; D055815:Young Adult; D001613:beta 2-Microglobulin / Q000097:blood
D000998:Antiviral Agents; D004791:Enzyme Inhibitors; D000077190:Interferon alpha-2; D016898:Interferon-alpha; D011994:Recombinant Proteins; D001613:beta 2-Microglobulin; D019009:Proto-Oncogene Proteins c-kit; D006918:Hydroxyurea