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

KIT D816V mutation MMAS Mastocytosis TPSAB1 anaphylaxis hereditary α-tryptasemia osteoporosis

Journal

The Journal of allergy and clinical immunology
ISSN: 1097-6825
Titre abrégé: J Allergy Clin Immunol
Pays: United States
ID NLM: 1275002

Informations de publication

Date de publication:
24 Aug 2023
Historique:
received: 05 04 2023
revised: 22 06 2023
accepted: 08 08 2023
pubmed: 27 8 2023
medline: 27 8 2023
entrez: 26 8 2023
Statut: aheadofprint

Résumé

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 Here we confirm the increase incidence of anaphylaxis in HαT

Sections du résumé

BACKGROUND BACKGROUND
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.
OBJECTIVE OBJECTIVE
We evaluated the prevalence of HαT in all mastocytosis subtypes and MMAS and assessed the pathophysiologic association with HαT.
METHODS METHODS
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.
RESULTS RESULTS
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
CONCLUSION CONCLUSIONS
Here we confirm the increase incidence of anaphylaxis in HαT

Identifiants

DOI: 10.1016/j.jaci.2023.08.015 PMID: 37633651
pubmed: 37633651
pii: S0091-6749(23)01068-0
doi: 10.1016/j.jaci.2023.08.015
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.

Auteurs

Laura Polivka (L)

Department of Dermatology, Reference Center for Genodermatoses (MAGEC), AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France.

Marine Madrange (M)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France.

Cristina Bulai-Livideanu (C)

CEREMAST, the Department of Dermatology, Hôpital Larrey, CHU Toulouse, Toulouse, France.

Stéphane Barete (S)

CEREMAST, the Department of Dermatology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.

Thomas Ballul (T)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Department of Hematology, Necker-Children's Hospital, AP-HP, Paris Centre University, Paris, France.

Antoine Neuraz (A)

Department of Bioinformatics, Necker-Children's Hospital, AP-HP, Paris Centre University, Imagine Institute, INSERM U1163, Paris, France.

Celine Greco (C)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Department of Pain and Palliative Care Unit, Necker-Children's Hospital, AP-HP, Paris Centre University, Paris, France.

Julie Agopian (J)

Centre de Recherche en Cancérologie de Marseille, INSERM U1068, Marseille, France; Association Française pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses (AFIRMM), Marseille, France.

Fabienne Brenet (F)

Centre de Recherche en Cancérologie de Marseille, INSERM U1068, Marseille, France; Association Française pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses (AFIRMM), Marseille, France.

Patrice Dubreuil (P)

Centre de Recherche en Cancérologie de Marseille, INSERM U1068, Marseille, France; Association Française pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses (AFIRMM), Marseille, France.

Charles Burdet (C)

Centre d'Investigation Clinique, INSERM CIC 1425, AP-HP, Bichat Hospital, Paris Centre University, Paris, France.

Richard Lemal (R)

Histocompatibility Laboratory, EA 7453, Université Clermont Auvergne, CHU de Clermont-Ferrand, Clermont-Ferrand, France.

Olivier Tournilhac (O)

CEREMAST, the Adult Clinical Hematology, CHU Clermont-Ferrand, INSERM CIC501, EA 7453, Clermont Auvergne University, Clermont-Ferrand, France.

Louis Terriou (L)

CEREMAST, the Department of Internal Medicine and Clinical Immunology, Claude Huriez Hospital, CHRU Lille, Lille, France.

David Launay (D)

CEREMAST, the Department of Internal Medicine and Clinical Immunology, Claude Huriez Hospital, CHRU Lille, Lille, France; Lille University, INSERM U995 LIRIC, CHU Lille, and Referral Center for Rare Systemic Autoimmune Diseases North and North-west of France, Lille, France.

Laurence Bouillet (L)

CEREMAST, the Clinical Immunology/Internal Medicine Department, National Reference Center for Angioedema, Grenoble University Hospital, Grenoble, France.

Clément Gourguechon (C)

Department of Haematology, Amiens University Hospital, Amiens, France.

Ghandi Damaj (G)

CEREMAST, the Haematology Institute, Normandy University School of Medicine, Caen, France.

Laurent Frenzel (L)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Department of Hematology, Necker-Children's Hospital, AP-HP, Paris Centre University, Paris, France.

Cécile Meni (C)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France.

Hassiba Bouktit (H)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France.

Anne Florence Collange (AF)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France.

Caroline Gaudy-Marqueste (C)

CEREMAST, the Department of Dermatology, Aix-Marseille University, CHU Timone, Marseille, France.

Marie Gousseff (M)

Department of Internal Medicine, Centre Hospitalier Bretagne Atlantique, Vannes, France.

Edwige Le Mouel (E)

CEREMAST, the Department of Internal Medicine and Clinical Immunology, Rennes University Hospital, Rennes, France.

Mohamed Hamidou (M)

CEREMAST, the Department of Internal Medicine, Hôtel-Dieu University Hospital, Nantes, France.

Antoine Neel (A)

CEREMAST, the Department of Internal Medicine, Hôtel-Dieu University Hospital, Nantes, France.

Dana Ranta (D)

Department of Haematology, Nancy University Hospital, Nancy, France.

Roland Jaussaud (R)

Department of Internal Medicine and Clinical Immunology, Vandoeuvre-lès-Nancy, France.

Philippe Guilpain (P)

CEREMAST, the Department of Internal Medicine-Multi-organ Diseases, Saint-Eloi University Hospital, Montpellier University, Montpellier, France.

Danielle Canioni (D)

CEREMAST, the Department of Pathology, Necker-Children's Hospital, AP-HP, Paris Centre University, Paris, France.

Thierry Jo Molina (TJ)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Department of Pathology, Necker-Children's Hospital, AP-HP, Paris Centre University, Paris, France.

Julie Bruneau (J)

CEREMAST, the Department of Pathology, Necker-Children's Hospital, AP-HP, Paris Centre University, Paris, France.

Ludovic Lhermitte (L)

CEREMAST, the Laboratory of Onco-hematology, Necker Children's Hospital, AP-HP, Paris, France.

Nicolas Garcelon (N)

Paris Centre University, Imagine Institute, Data Science Platform, INSERM UMR 1163, F-75015, Paris, France.

Rose-Marie Javier (RM)

CEREMAST, the Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France.

Fabien Pelletier (F)

CEREMAST, the Department of Dermatology, Allergology Unit, University Hospital of Besançon, Besançon, France.

Florence Castelain (F)

CEREMAST, the Department of Dermatology, Allergology Unit, University Hospital of Besançon, Besançon, France.

Frederique Retornaz (F)

Unité de soins et de recherche en médecine interne et maladies infectieuses, European Hospital, Marseille, France.

Quentin Cabrera (Q)

Department of Haematology, Sud Reunion University Hospital, Saint Pierre, La Réunion, France.

Patricia Zunic (P)

Department of Haematology, Sud Reunion University Hospital, Saint Pierre, La Réunion, France.

Marie Pierre Gourin (MP)

CEREMAST, the Department of Hematology, CHU Dupuytren, Limoges, France.

Ewa Wierzbicka-Hainaut (E)

CEREMAST, the Department of Dermatology, CHU de Poitiers, Poitiers, France.

Jean François Viallard (JF)

Department of Internal Medicine and Infectious Diseases, Haut-Lévêque Hospital, CHRU Bordeaux, Bordeaux University, Bordeaux, France.

Christian Lavigne (C)

CEREMAST, the Department of Internal Medicine and Clinical Immunology, University Hospital, Angers, France.

Cyrille Hoarau (C)

CEREMAST, the Service d'Immunologie Clinique et d'Allergologie, Centre Hospitalier Régional Universitaire, Tours, France.

Isabelle Durieu (I)

CEREMAST, the Department of Internal Medicine, Adult Cystic Fibrosis Care Center, Hospices Civils de Lyon, Lyon, France.

Maël Heiblig (M)

CEREMAST, the Department of Hematology, Lyon-Sud Hospital, Hospices Civils de Lyon, Pierre-Bénite, France.

Sophie Dimicoli-Salazar (S)

Department of Hematology, CHU de Bordeaux, Bordeaux, France.

Jose Miguel Torregrosa-Diaz (JM)

Department of Hematology, CHU de Poitiers, Poitiers, France.

Angèle Soria (A)

CEREMAST, the Department of Dermatology and Allergy, Tenon Hospital, Sorbonne University, Paris, France.

Michel Arock (M)

CEREMAST, the Laboratory of Hematology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.

Olivier Lortholary (O)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France.

Christine Bodemer (C)

Department of Dermatology, Reference Center for Genodermatoses (MAGEC), AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France.

Olivier Hermine (O)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Department of Hematology, Necker-Children's Hospital, AP-HP, Paris Centre University, Paris, France. Electronic address: ohermine@gmail.com.

Julien Rossignol (J)

CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Department of Hematology, Necker-Children's Hospital, AP-HP, Paris Centre University, Paris, France.

Classifications MeSH