The Italian Mastocytosis Registry: 6-year experience from a hospital-based registry

Future Oncol. 2018 Nov;14(26):2713-2723. doi: 10.2217/fon-2018-0291. Epub 2018 Sep 12.

Abstract

Aim: We collected 'real-life' data on the management of patients with mastocytosis in the Italian Mastocytosis Registry.

Methods: Six hundred patients diagnosed with mastocytosis between 1974 and 2014 were included from 19 centers.

Results: Among adults (n = 401); 156 (38.9%) patients were diagnosed with systemic mastocytosis. In 212 adults, no bone marrow studies were performed resulting in a provisional diagnosis of mastocytosis of the skin. This diagnosis was most frequently established in nonhematologic centers. In total, 182/184 pediatric patients had cutaneous mastocytosis. We confirmed that in the most patients with systemic mastocytosis, serum tryptase levels were >20 ng/ml and KIT D816V was detectable.

Conclusion: The Italian Mastocytosis Registry revealed some center-specific approaches for diagnosis and therapy. Epidemiological evidence on this condition is provided.

Keywords: hospital-based registry; mastocytosis; multidisciplinary management.

MeSH terms

  • Adolescent
  • Adult
  • Bone Marrow / pathology
  • Child
  • Female
  • Humans
  • Italy / epidemiology
  • Male
  • Mastocytosis, Cutaneous / diagnosis
  • Mastocytosis, Cutaneous / epidemiology*
  • Mastocytosis, Cutaneous / genetics
  • Mastocytosis, Cutaneous / pathology
  • Mastocytosis, Systemic / diagnosis
  • Mastocytosis, Systemic / epidemiology*
  • Mastocytosis, Systemic / genetics
  • Mastocytosis, Systemic / pathology
  • Mutation
  • Prevalence
  • Proto-Oncogene Proteins c-kit / genetics
  • Registries / statistics & numerical data*
  • Retrospective Studies
  • Skin / pathology
  • Tryptases / blood
  • Young Adult

Substances

  • KIT protein, human
  • Proto-Oncogene Proteins c-kit
  • Tryptases