Proposed diagnostic algorithm for patients with suspected mastocytosis: a proposal of the European Competence Network on Mastocytosis |
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| Authors: | P Valent L Escribano S Broesby‐Olsen K Hartmann C Grattan K Brockow M Niedoszytko B Nedoszytko J N G Oude Elberink T Kristensen J H Butterfield M Triggiani I Alvarez‐Twose A Reiter W R Sperr K Sotlar S Yavuz H C Kluin‐Nelemans O Hermine D Radia J J van Doormaal J Gotlib A Orfao F Siebenhaar L B Schwartz M Castells M Maurer H‐P Horny C Akin D D Metcalfe M Arock |
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| Institution: | 1. Division of Haematology, Department of Internal Medicine I, Medical University of Vienna, , Vienna, Austria;2. Servicio Central de Citometria, Centro de Investigacion del Cancer (IBMCC;3. CSIC/USAL), IBSAL and Department of Medicine, University of Salamanca, , Salamanca, Spain;4. Department of Dermatology and Allergy Centre, Odense University Hospital, , Odense, Denmark;5. Department of Dermatology, University of Cologne, , Cologne, Germany;6. Norfolk and Norwich University Hospital, , Norwich, UK;7. Department of Dermatology and Allergy Biederstein, Technical University of Munich, , Munich, Germany;8. Department of Allergology, Medical University of Gdansk, , Gdansk, Poland;9. Department of Dermatology, Medical University of Gdansk, , Gdansk, Poland;10. Department of Allergology, University Medical Center of Groningen, University of Groningen, , Groningen, the Netherlands;11. Department of Pathology, Odense University Hospital, , Odense, Denmark;12. Division of Allergic Diseases, Mayo Clinic, , Rochester, MN, USA;13. Division of Allergy and Clinical Immunology, University of Salerno, , Salerno, Italy;14. Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast), Hospital Virgen del Valle, , Toledo, Spain;15. III. Medizinische Klinik, Universit?ts‐Medizin Mannheim, Universit?t Heidelberg, , Mannheim, Germany;16. Institute of Pathology, Ludwig‐Maximilians‐University, , Munich, Germany;17. Division of Haematology, Department of Internal Medicine, University of Istanbul, , Istanbul, Turkey;18. Department of Haematology, University Medical Center Groningen, University of Groningen, , Groningen, the Netherlands;19. Imagine Institute Université Paris Descartes, Sorbonne, Paris Cité, Centre national de référence des mastocytoses, , Paris, France;20. Department of Haematology, Guys and St Thomas' NHS Foundation Trust, Guys Hospital, , London, UK;21. Stanford Cancer Institute, Stanford University School of Medicine, , Stanford, CA, USA;22. Department of Dermatology & Allergy, Charité Universit?tsmedizin Berlin, , Berlin, Germany;23. Division of Rheumatology, Allergy & Immunology, Department of Internal Medicine, Virginia Common‐wealth University, , Richmond, VA, USA;24. Division of Allergy and Immunology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, , Boston, MA, USA;25. Laboratory of Allergic Diseases, NIAID, NIH, , Bethesda, MD, USA;26. LBPA CNRS UMR8113, Ecole Normale Supérieure de Cachan, , Cachan, France |
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| Abstract: | Mastocytosis is an emerging differential diagnosis in patients with more or less specific mediator‐related symptoms. In some of these patients, typical skin lesions are found and the diagnosis of mastocytosis can be established. In other cases, however, skin lesions are absent, which represents a diagnostic challenge. In the light of this unmet need, we developed a diagnostic algorithm for patients with suspected mastocytosis. In adult patients with typical lesions of mastocytosis in the skin, a bone marrow (BM) biopsy should be considered, regardless of the basal serum tryptase concentration. In adults without skin lesions who suffer from mediator‐related or other typical symptoms, the basal tryptase level is an important parameter. In those with a slightly increased tryptase level, additional investigations, including a sensitive KIT mutation analysis of blood leucocytes or measurement of urinary histamine metabolites, may be helpful. In adult patients in whom (i) KIT D816V is detected and/or (ii) the basal serum tryptase level is clearly increased (>25–30 ng/ml) and/or (iii) other clinical or laboratory features suggest the presence of ‘occult’ mastocytosis or another haematologic neoplasm, a BM investigation is recommended. In the absence of KIT D816V and other signs or symptoms of mastocytosis or another haematopoietic disease, no BM investigation is required, but the clinical course and tryptase levels are monitored in the follow‐up. In paediatric patients, a BM investigation is usually not required, even if the tryptase level is increased. Although validation is required, it can be expected that the algorithm proposed herein will facilitate the management of patients with suspected mastocytosis and help avoid unnecessary referrals and investigations. |
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| Keywords: | diagnostic algorithm KIT D816V mast cells mastocytosis tryptase |
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