Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes

Laura Polivka; Marine Madrange; Cristina Bulai-Livideanu; Stéphane Barete; Thomas Ballul; Antoine Neuraz; Celine Greco; Julie Agopian; Fabienne Brenet; Patrice Dubreuil; Charles Burdet; Richard Lemal; Olivier Tournilhac; Louis Terriou; David Launay; Laurence Bouillet; Clément Gourguechon; Ghandi Damaj; Laurent Frenzel; Cécile Meni; Hassiba Bouktit; Anne Florence Collange; Caroline Gaudy-Marqueste; Marie Gousseff; Edwige Le Mouel; Mohamed Hamidou; Antoine Neel; Dana Ranta; Roland Jaussaud; Philippe Guilpain; Danielle Canioni; Thierry Jo Molina; Julie Bruneau; Ludovic Lhermitte; Nicolas Garcelon; Rose-Marie Javier; Fabien Pelletier; Florence Castelain; Frederique Retornaz; Quentin Cabrera; Patricia Zunic; Marie Pierre Gourin; Ewa Wierzbicka-Hainaut; Jean François Viallard; Christian Lavigne; Cyrille Hoarau; Isabelle Durieu; Maël Heiblig; Sophie Dimicoli-Salazar; Jose Miguel Torregrosa-Diaz; Angèle Soria; Michel Arock; Olivier Lortholary; Christine Bodemer; Olivier Hermine; Julien Rossignol; CEREMAST network

doi:10.1016/j.jaci.2023.08.015

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Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes

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Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes

Laura Polivka, Marine Madrange, Cristina Bulai-Livideanu, Stéphane Barete, Thomas Ballul, Antoine Neuraz, Celine Greco, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, …

Journal of allergy and clinical immunology, Vol.153(1), pp.349-353.e4

01/01/2024

DOI: https://doi.org/10.1016/j.jaci.2023.08.015

PMID: 37633651

Résumé

anaphylaxis

hereditary α-tryptasemia

KIT D816V mutation

Mastocytosis

MMAS

osteoporosis

TPSAB1

Mastocytosis and monoclonal mast cell (MC) activation syndrome (MMAS) are heterogeneous conditions characterized by the accumulation of atypical MCs. Despite the recurrent involvement of KIT mutations, the pathophysiologic origin of mastocytosis and MMAS is unclear. Although hereditary α-tryptasemia (HαT, related to TPSAB1 gene duplication) is abnormally frequent in these diseases, it is not known whether the association is coincidental or causal. We evaluated the prevalence of HαT in all mastocytosis subtypes and MMAS and assessed the pathophysiologic association with HαT. Clinical data, laboratory data, KIT mutations, TPSAB1 duplication (assessed by droplet digital PCR), and HαT prevalence were retrospectively recorded for all patients with mastocytosis and MMAS registered in the French national referral center database and compared to a control cohort. To increase the power of our analysis for advanced systemic mastocytosis (advSM), we pooled our cohort with literature cases. We included 583 patients (27 with MMAS and 556 with mastocytosis). The prevalence of HαT in mastocytosis was 12.6%, significantly higher than in the general population (5.7%, P = .002) and lower than in MMAS (33.3%, P = .02). HαT+ patients were more likely to have anaphylactic reactions and less likely to have cutaneous lesions than HαT− patients (43.0% vs 24.4%, P = .006; 57.7% vs 75.6%, respectively, P = .006). In the pooled analysis, the prevalence of HαT was higher in advSM (11.5%) than in control cohorts (5.2%, P = .01). Here we confirm the increase incidence of anaphylaxis in HαT+ mastocytosis patients. The increased prevalence of HαT in all subtypes of systemic mastocytosis (including advSM) is suggestive of pathophysiologic involvement.

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Titre: Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes
Créateurs - sans rôle: Laura Polivka - Department of Dermatology, Reference Center for Genodermatoses (MAGEC), AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Marine Madrange - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Cristina Bulai-Livideanu - Hôpital Larrey
Stéphane Barete - Pitié-Salpêtrière Hospital
Thomas Ballul - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Antoine Neuraz - Assistance Publique – Hôpitaux de Paris
Celine Greco - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Julie Agopian - Centre de Recherche en Cancérologie de Marseille
Fabienne Brenet - Centre de Recherche en Cancérologie de Marseille
Patrice Dubreuil - Centre de Recherche en Cancérologie de Marseille
Charles Burdet - Centre d’Investigation Clinique, INSERM CIC 1425, AP-HP, Bichat Hospital, Paris Centre University, Paris, France
Richard Lemal - Université Clermont Auvergne
Olivier Tournilhac - CEREMAST, the Adult Clinical Hematology, CHU Clermont-Ferrand, INSERM CIC501, EA 7453, Clermont Auvergne University, Clermont-Ferrand, France
Louis Terriou - CEREMAST, the Department of Internal Medicine and Clinical Immunology, Claude Huriez Hospital, CHRU Lille, Lille, France
David Launay - CEREMAST, the Department of Internal Medicine and Clinical Immunology, Claude Huriez Hospital, CHRU Lille, Lille, France
Laurence Bouillet - CEREMAST, the Clinical Immunology/Internal Medicine Department, National Reference Center for Angioedema, Grenoble University Hospital, Grenoble, France
Clément Gourguechon - Department of Haematology, Amiens University Hospital, Amiens, France
Ghandi Damaj - CEREMAST, the Haematology Institute, Normandy University School of Medicine, Caen, France
Laurent Frenzel - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Cécile Meni - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Hassiba Bouktit - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Anne Florence Collange - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Caroline Gaudy-Marqueste - CEREMAST, the Department of Dermatology, Aix-Marseille University, CHU Timone, Marseille, France
Marie Gousseff - Centre hospitalier Bretagne Atlantique
Edwige Le Mouel - CEREMAST, the Department of Internal Medicine and Clinical Immunology, Rennes University Hospital, Rennes, France
Mohamed Hamidou - CEREMAST, the Department of Internal Medicine, Hôtel-Dieu University Hospital, Nantes, France
Antoine Neel - CEREMAST, the Department of Internal Medicine, Hôtel-Dieu University Hospital, Nantes, France
Dana Ranta - Centre Hospitalier Régional et Universitaire de Nancy
Roland Jaussaud - Department of Internal Medicine and Clinical Immunology, Vandoeuvre-lès-Nancy, France
Philippe Guilpain - CEREMAST, the Department of Internal Medicine-Multi-organ Diseases, Saint-Eloi University Hospital, Montpellier University, Montpellier, France
Danielle Canioni - CEREMAST, the Department of Pathology, Necker-Children’s Hospital, AP-HP, Paris Centre University, Paris, France
Thierry Jo Molina - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Julie Bruneau - CEREMAST, the Department of Pathology, Necker-Children’s Hospital, AP-HP, Paris Centre University, Paris, France
Ludovic Lhermitte - Assistance Publique – Hôpitaux de Paris
Nicolas Garcelon - Institut des Maladies Génétiques Imagine
Rose-Marie Javier - CEREMAST, the Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France
Fabien Pelletier - CEREMAST, the Department of Dermatology, Allergology Unit, University Hospital of Besançon, Besançon, France
Florence Castelain - CEREMAST, the Department of Dermatology, Allergology Unit, University Hospital of Besançon, Besançon, France
Frederique Retornaz - Unité de soins et de recherche en médecine interne et maladies infectieuses, European Hospital, Marseille, France
Quentin Cabrera - Department of Haematology, Sud Reunion University Hospital, Saint Pierre, La Réunion, France
Patricia Zunic - Department of Haematology, Sud Reunion University Hospital, Saint Pierre, La Réunion, France
Marie Pierre Gourin - CEREMAST, the Department of Hematology, CHU Dupuytren, Limoges, France
Ewa Wierzbicka-Hainaut - CEREMAST, the Department of Dermatology, CHU de Poitiers, Poitiers, France
Jean François Viallard - Department of Internal Medicine and Infectious Diseases, Haut-Lévêque Hospital, CHRU Bordeaux, Bordeaux University, Bordeaux, France
Christian Lavigne - CEREMAST, the Department of Internal Medicine and Clinical Immunology, University Hospital, Angers, France
Cyrille Hoarau - CEREMAST, the Service d’Immunologie Clinique et d’Allergologie, Centre Hospitalier Régional Universitaire, Tours, France
Isabelle Durieu - Hospices Civils de Lyon
Maël Heiblig - Hospices Civils de Lyon
Sophie Dimicoli-Salazar - Centre Hospitalier Universitaire de Bordeaux
Jose Miguel Torregrosa-Diaz - Department of Hematology, CHU de Poitiers, Poitiers, France
Angèle Soria - CEREMAST, the Department of Dermatology and Allergy, Tenon Hospital, Sorbonne University, Paris, France
Michel Arock - Pitié-Salpêtrière Hospital
Olivier Lortholary - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Christine Bodemer - Department of Dermatology, Reference Center for Genodermatoses (MAGEC), AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Olivier Hermine - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
Julien Rossignol - CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children’s Hospital, Paris Centre University, Paris, France
CEREMAST network
Détails de publication: Journal of allergy and clinical immunology, Vol.153(1), pp.349-353.e4
Éditeur: Elsevier Inc
Identifiants: 99141092309311
Unité académique: Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Langue: English
Type de ressource: Journal article