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Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients
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 pat...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998476/ https://www.ncbi.nlm.nih.gov/pubmed/27310990 http://dx.doi.org/10.1097/MD.0000000000003901 |
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author | Rouet, Audrey Aouba, Achille Damaj, Gandhi Soucié, Erinn Hanssens, Katia Chandesris, Marie-Olivia Livideanu, Cristina Bulai Dutertre, Marine Durieu, Isabelle Grandpeix-Guyodo, Catherine Barète, Stéphane Bachmeyer, Claude Soria, Angèle Frenzel, Laurent Fain, Olivier Grosbois, Bernard de Gennes, Christian Hamidou, Mohamed Arlet, Jean-Benoit Launay, David Lavigne, Christian Arock, Michel Lortholary, Olivier Dubreuil, Patrice Hermine, Olivier Georgin-Lavialle, Sophie |
author_facet | Rouet, Audrey Aouba, Achille Damaj, Gandhi Soucié, Erinn Hanssens, Katia Chandesris, Marie-Olivia Livideanu, Cristina Bulai Dutertre, Marine Durieu, Isabelle Grandpeix-Guyodo, Catherine Barète, Stéphane Bachmeyer, Claude Soria, Angèle Frenzel, Laurent Fain, Olivier Grosbois, Bernard de Gennes, Christian Hamidou, Mohamed Arlet, Jean-Benoit Launay, David Lavigne, Christian Arock, Michel Lortholary, Olivier Dubreuil, Patrice Hermine, Olivier Georgin-Lavialle, Sophie |
author_sort | Rouet, Audrey |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4998476 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-49984762016-09-02 Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients Rouet, Audrey Aouba, Achille Damaj, Gandhi Soucié, Erinn Hanssens, Katia Chandesris, Marie-Olivia Livideanu, Cristina Bulai Dutertre, Marine Durieu, Isabelle Grandpeix-Guyodo, Catherine Barète, Stéphane Bachmeyer, Claude Soria, Angèle Frenzel, Laurent Fain, Olivier Grosbois, Bernard de Gennes, Christian Hamidou, Mohamed Arlet, Jean-Benoit Launay, David Lavigne, Christian Arock, Michel Lortholary, Olivier Dubreuil, Patrice Hermine, Olivier Georgin-Lavialle, Sophie Medicine (Baltimore) 4800 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. Wolters Kluwer Health 2016-06-17 /pmc/articles/PMC4998476/ /pubmed/27310990 http://dx.doi.org/10.1097/MD.0000000000003901 Text en Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved. http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. http://creativecommons.org/licenses/by-nc-sa/4.0 |
spellingShingle | 4800 Rouet, Audrey Aouba, Achille Damaj, Gandhi Soucié, Erinn Hanssens, Katia Chandesris, Marie-Olivia Livideanu, Cristina Bulai Dutertre, Marine Durieu, Isabelle Grandpeix-Guyodo, Catherine Barète, Stéphane Bachmeyer, Claude Soria, Angèle Frenzel, Laurent Fain, Olivier Grosbois, Bernard de Gennes, Christian Hamidou, Mohamed Arlet, Jean-Benoit Launay, David Lavigne, Christian Arock, Michel Lortholary, Olivier Dubreuil, Patrice Hermine, Olivier Georgin-Lavialle, Sophie Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients |
title | Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients |
title_full | Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients |
title_fullStr | Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients |
title_full_unstemmed | Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients |
title_short | Mastocytosis among elderly patients: A multicenter retrospective French study on 53 patients |
title_sort | mastocytosis among elderly patients: a multicenter retrospective french study on 53 patients |
topic | 4800 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998476/ https://www.ncbi.nlm.nih.gov/pubmed/27310990 http://dx.doi.org/10.1097/MD.0000000000003901 |
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