Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches
Mastocytosis is a hematopoietic neoplasm defined by abnormal expansion and focal accumulation of clonal tissue mast cells in various organ-systems. The disease exhibits a complex pathology and an equally complex clinical behavior. The classification of the World Health Organization (WHO) divides mas...
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MDPI AG
2019-06-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/20/12/2976 |
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| author | Peter Valent Cem Akin Karoline V. Gleixner Wolfgang R. Sperr Andreas Reiter Michel Arock Massimo Triggiani |
| author_facet | Peter Valent Cem Akin Karoline V. Gleixner Wolfgang R. Sperr Andreas Reiter Michel Arock Massimo Triggiani |
| author_sort | Peter Valent |
| collection | DOAJ |
| description | Mastocytosis is a hematopoietic neoplasm defined by abnormal expansion and focal accumulation of clonal tissue mast cells in various organ-systems. The disease exhibits a complex pathology and an equally complex clinical behavior. The classification of the World Health Organization (WHO) divides mastocytosis into cutaneous forms, systemic variants, and localized mast cell tumors. In >80% of patients with systemic mastocytosis (SM), a somatic point mutation in <i>KIT</i> at codon 816 is found. Whereas patients with indolent forms of the disease have a normal or near-normal life expectancy, patients with advanced mast cell neoplasms, including aggressive SM and mast cell leukemia, have a poor prognosis with short survival times. In a majority of these patients, multiple somatic mutations and/or an associated hematologic neoplasm, such as a myeloid leukemia, may be detected. Independent of the category of mastocytosis and the serum tryptase level, patients may suffer from mediator-related symptoms and/or osteopathy. Depending on the presence of co-morbidities, the symptomatology in such patients may be mild, severe or even life-threatening. Most relevant co-morbidities in such patients are IgE-dependent allergies, psychiatric, psychological or mental problems, and vitamin D deficiency. The diagnosis and management of mastocytosis is an emerging challenge in clinical practice and requires vast knowledge, a multidisciplinary approach, and personalized medicine procedures. In this article, the current knowledge about mastocytosis is reviewed with special emphasis on the multidisciplinary aspects of the disease and related challenges in daily practice. |
| first_indexed | 2024-04-12T20:06:46Z |
| format | Article |
| id | doaj.art-3deddad67a3141c386ac4da755ecb91f |
| institution | Directory Open Access Journal |
| issn | 1422-0067 |
| language | English |
| last_indexed | 2024-04-12T20:06:46Z |
| publishDate | 2019-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-3deddad67a3141c386ac4da755ecb91f2022-12-22T03:18:23ZengMDPI AGInternational Journal of Molecular Sciences1422-00672019-06-012012297610.3390/ijms20122976ijms20122976Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine ApproachesPeter Valent0Cem Akin1Karoline V. Gleixner2Wolfgang R. Sperr3Andreas Reiter4Michel Arock5Massimo Triggiani6Department of Internal Medicine I, Division of Hematology & Hemostaseology, Medical University of Vienna, 1090 Vienna, AustriaDivision of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, MI 48106, USADepartment of Internal Medicine I, Division of Hematology & Hemostaseology, Medical University of Vienna, 1090 Vienna, AustriaDepartment of Internal Medicine I, Division of Hematology & Hemostaseology, Medical University of Vienna, 1090 Vienna, AustriaIII. Medizinische Klinik, Universitätsmedizin Mannheim, 68167 Mannheim, GermanyDepartment of Hematological Biology, Pitié-Salpêtrière Hospital, Pierre et Marie Curie University (UPMC), 75005 Paris, FranceDivision of Allergy and Clinical Immunology, University of Salerno, 84131 Salerno, ItalyMastocytosis is a hematopoietic neoplasm defined by abnormal expansion and focal accumulation of clonal tissue mast cells in various organ-systems. The disease exhibits a complex pathology and an equally complex clinical behavior. The classification of the World Health Organization (WHO) divides mastocytosis into cutaneous forms, systemic variants, and localized mast cell tumors. In >80% of patients with systemic mastocytosis (SM), a somatic point mutation in <i>KIT</i> at codon 816 is found. Whereas patients with indolent forms of the disease have a normal or near-normal life expectancy, patients with advanced mast cell neoplasms, including aggressive SM and mast cell leukemia, have a poor prognosis with short survival times. In a majority of these patients, multiple somatic mutations and/or an associated hematologic neoplasm, such as a myeloid leukemia, may be detected. Independent of the category of mastocytosis and the serum tryptase level, patients may suffer from mediator-related symptoms and/or osteopathy. Depending on the presence of co-morbidities, the symptomatology in such patients may be mild, severe or even life-threatening. Most relevant co-morbidities in such patients are IgE-dependent allergies, psychiatric, psychological or mental problems, and vitamin D deficiency. The diagnosis and management of mastocytosis is an emerging challenge in clinical practice and requires vast knowledge, a multidisciplinary approach, and personalized medicine procedures. In this article, the current knowledge about mastocytosis is reviewed with special emphasis on the multidisciplinary aspects of the disease and related challenges in daily practice.https://www.mdpi.com/1422-0067/20/12/2976mast cells<i>KIT</i> D816VtryptaseIgEallergyMCASpersonalized medicine |
| spellingShingle | Peter Valent Cem Akin Karoline V. Gleixner Wolfgang R. Sperr Andreas Reiter Michel Arock Massimo Triggiani Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches International Journal of Molecular Sciences mast cells <i>KIT</i> D816V tryptase IgE allergy MCAS personalized medicine |
| title | Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches |
| title_full | Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches |
| title_fullStr | Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches |
| title_full_unstemmed | Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches |
| title_short | Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches |
| title_sort | multidisciplinary challenges in mastocytosis and how to address with personalized medicine approaches |
| topic | mast cells <i>KIT</i> D816V tryptase IgE allergy MCAS personalized medicine |
| url | https://www.mdpi.com/1422-0067/20/12/2976 |
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