Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients.

Abstract

Mastocytosis is a heterogeneous group of diseases with a young median age at diagnosis. Usually indolent and self-limited in childhood, the disease can exhibit aggressive progression in mid-adulthood. Our objectives were to describe the characteristics of the disease when diagnosed among elderly patients, for which rare data are available.The French Reference Center conducted a retrospective multicenter study on 53 patients with mastocytosis >69 years of age, to describe their clinical, biological, and genetic features.The median age of our cohort of patients was 75 years. Mastocytosis variants included were cutaneous (n = 1), indolent systemic (n = 5), aggressive systemic (n = 11), associated with a hematological non-mast cell disease (n = 34), and mast cell leukemia (n = 2). Clinical manifestations were predominantly mast cell activation symptoms (75.5%), poor performance status (50.9%), hepatosplenomegaly (50.9%), skin involvement (49.1%), osteoporosis (47.2%), and portal hypertension and ascites (26.4%). The main biological features were anemia (79.2%), thrombocytopenia (50.9%), leucopenia (20.8%), and liver enzyme abnormalities (32.1%). Of the 40 patients tested, 34 (85%), 2 (5%), and 4 (10%) exhibited the KIT D816V mutant, other KIT mutations and the wild-type form of the KIT gene, respectively. Additional sequencing detected significant genetic defects in 17 of 26 (65.3%) of the patients with associated hematological non-mast cell disease, including TET2, SRSF2, IDH2, and ASLX1 mutations. Death occurred in 19 (35.8%) patients, within a median delay of 9 months, despite the different treatment options available.Mastocytosis among elderly patients has a challenging early detection, rare skin involvement, and/or limited skin disease; it is heterogeneous and has often an aggressive presentation with nonfortuitous associated myeloid lineage malignant clones, and thus a poor overall prognosis.

• Authors: Audrey Rouet, Achille Aouba, Gandhi Damaj, Erinn Soucié, Katia Hanssens, Marie-Olivia Chandesris, Cristina Bulai Livideanu, Marine Dutertre, Isabelle Durieu, Catherine Grandpeix-Guyodo, Stéphane Barète, Claude Bachmeyer, Angèle Soria, Laurent Frenzel, Olivier Fain, Bernard Grosbois, Christian de Gennes, Mohamed Hamidou, Jean-Benoit Arlet, David Launay, Christian Lavigne, Michel Arock, Olivier Lortholary, Patrice Dubreuil, Olivier Hermine, Sophie Georgin-Lavialle
• Journal: Medicine (Medicine (Baltimore)) Vol. 95 Issue 24 Pg. e3901 (Jun 2016) ISSN: 1536-5964 [Electronic] United States
• PMID: 27310990 (Publication Type: Journal Article, Multicenter Study)

Chemical References

• DNA, Neoplasm

Topics

• Aged
• Aged, 80 and over
• DNA Mutational Analysis
• DNA, Neoplasm (genetics)
• Disease Progression
• Female
• France (epidemiology)
• Humans
• Male
• Mast Cells (metabolism, pathology)
• Mastocytosis (diagnosis, epidemiology, genetics)
• Morbidity (trends)
• Mutation
• Oncogenes (genetics)
• Retrospective Studies