TY - JOUR
T1 - Scoring the Risk of Having Systemic Mastocytosis in Adult Patients with Mastocytosis in the Skin
AU - Fuchs, David
AU - Kilbertus, Alex
AU - Kofler, Karin
AU - von Bubnoff, Nikolas
AU - Shoumariyeh, Khalid
AU - Zanotti, Roberta
AU - Bonadonna, Patrizia
AU - Scaffidi, Luigi
AU - Doubek, Michael
AU - Elberink, Hanneke Oude
AU - Span, Lambert F.R.
AU - Hermine, Olivier
AU - Elena, Chiara
AU - Benvenuti, Pietro
AU - Yavuz, Akif Selim
AU - Brockow, Knut
AU - Zink, Alexander
AU - Aberer, Elisabeth
AU - Gorska, Aleksandra
AU - Romantowski, Jan
AU - Hadzijusufovic, Emir
AU - Fortina, Anna Belloni
AU - Caroppo, Francesca
AU - Perkins, Cecelia
AU - Illerhaus, Anja
AU - Panse, Jens
AU - Vucinic, Vladan
AU - Jawhar, Mohamad
AU - Sabato, Vito
AU - Triggiani, Massimo
AU - Parente, Roberta
AU - Bergström, Anna
AU - Breynaert, Christine
AU - Gotlib, Jason
AU - Reiter, Andreas
AU - Hartmann, Karin
AU - Niedoszytko, Marek
AU - Arock, Michel
AU - Kluin-Nelemans, Hanneke C.
AU - Sperr, Wolfgang R.
AU - Greul, Rosemarie
AU - Valent, Peter
N1 - Funding Information:
This work was supported by Deutsche Forschungsgemeinschaft (DFG; grant no. RA 2838 to A.I.) and by the Koeln Fortune Program, Faculty of Medicine , University of Cologne (grant no. 216/2016 to A.I.). P.V. and his team were supported by the Austrian Science Fund (Fonds zur Förderung der wissenschaftlichen Forschung; grant nos. F4704-B20 and P32470-B). V.S. is a senior clinical researcher of the Research Foundation Flanders/Fonds Wetenschappelijk Onderzoek (FWO: 1804518N).
Funding Information:
Conflicts of interest: D. Fuchs received honoraria from Novartis, outside the submitted work. N. von Bubnoff received honoraria from Amgen, Astra Zeneca, BMS, and Novartis, and research funding from Novartis . J. Panse reports personal fees from Alexion, BMS, Boehringer Ingelheim, Grünenthal, MSD, Novartis, Pfizer, Chugai, Roche, Apellis, and Blueprint medicines, all outside the submitted work. M. Triggiani received fee for Advisory Board from Novartis, Deciphera, and Blueprint Medicines. H. C. Kluin-Nelemans received financial support from Novartis . W. R. Sperr received honoraria from Novartis, Pfizer, AbbVie, Daiichi Sankyo, Amgen, Thermo Fisher, Deciphera, Incyte, Celgene, and Jazz. Valent received honoraria from Deciphera, Blueprint, Celgene, Novartis, Pfizer, and Incyte, all outside the submitted work.
Publisher Copyright:
© 2020 American Academy of Allergy, Asthma & Immunology
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/4
Y1 - 2021/4
N2 - Background: Mastocytosis in adults often presents with skin lesions. A bone marrow biopsy is necessary to confirm or exclude the presence of systemic mastocytosis (SM) in these cases. When a bone marrow biopsy is not performed, the provisional diagnosis is mastocytosis in the skin (MIS). No generally accepted scoring system has been established to estimate the risk of SM in these patients. Objective: To develop a risk score to predict SM in adults with MIS. Methods: We examined 1145 patients with MIS from the European Competence Network on Mastocytosis Registry who underwent a bone marrow biopsy. A total of 944 patients had SM and 201 patients had cutaneous mastocytosis; 63.7% were female, and 36.3% were male. Median age was 44 ± 13.3 years. The median serum tryptase level amounted to 29.3 ± 81.9 ng/mL. We established a multivariate regression model using the whole population of patients as a training and validation set (bootstrapping). A risk score was developed and validated with receiver-operating curves. Results: In the multivariate model, the tryptase level (P <.001), constitutional/cardiovascular symptoms (P =.014), and bone symptoms/osteoporosis (P <.001) were independent predictors of SM (P <.001; sensitivity, 90.7%; specificity, 69.1%). A 6-point risk score was established (risk, 10.7%-98.0%) and validated. Conclusions: Using a large data set of the European Competence Network on Mastocytosis Registry, we created a risk score to predict the presence of SM in patients with MIS. Although the score will need further validation in independent cohorts, our score seems to discriminate safely between patients with SM and with pure cutaneous mastocytosis.
AB - Background: Mastocytosis in adults often presents with skin lesions. A bone marrow biopsy is necessary to confirm or exclude the presence of systemic mastocytosis (SM) in these cases. When a bone marrow biopsy is not performed, the provisional diagnosis is mastocytosis in the skin (MIS). No generally accepted scoring system has been established to estimate the risk of SM in these patients. Objective: To develop a risk score to predict SM in adults with MIS. Methods: We examined 1145 patients with MIS from the European Competence Network on Mastocytosis Registry who underwent a bone marrow biopsy. A total of 944 patients had SM and 201 patients had cutaneous mastocytosis; 63.7% were female, and 36.3% were male. Median age was 44 ± 13.3 years. The median serum tryptase level amounted to 29.3 ± 81.9 ng/mL. We established a multivariate regression model using the whole population of patients as a training and validation set (bootstrapping). A risk score was developed and validated with receiver-operating curves. Results: In the multivariate model, the tryptase level (P <.001), constitutional/cardiovascular symptoms (P =.014), and bone symptoms/osteoporosis (P <.001) were independent predictors of SM (P <.001; sensitivity, 90.7%; specificity, 69.1%). A 6-point risk score was established (risk, 10.7%-98.0%) and validated. Conclusions: Using a large data set of the European Competence Network on Mastocytosis Registry, we created a risk score to predict the presence of SM in patients with MIS. Although the score will need further validation in independent cohorts, our score seems to discriminate safely between patients with SM and with pure cutaneous mastocytosis.
UR - http://www.scopus.com/inward/record.url?scp=85099805558&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/749b8d20-a7fc-3383-855e-fd4cc4d004b1/
U2 - 10.1016/j.jaip.2020.12.022
DO - 10.1016/j.jaip.2020.12.022
M3 - Journal articles
C2 - 33346151
AN - SCOPUS:85099805558
SN - 2213-2198
VL - 9
SP - 1705-1712.e4
JO - Journal of Allergy and Clinical Immunology: In Practice
JF - Journal of Allergy and Clinical Immunology: In Practice
IS - 4
ER -