Title :

Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients

Author(s) :

Maillet, François [Auteur]
UFR Médecine [Santé] - Université Paris Cité [UFR Médecine UPCité]
Galimard, Jacques‐emmanuel [Auteur]
Borie, Raphaël [Auteur]
AP-HP - Hôpital Bichat - Claude Bernard [Paris]
Physiopathologie et Epidémiologie des Maladies Respiratoires [PHERE (UMR_S_1152 / U1152)]
Lainey, Elodie [Auteur]
Service d'Hématologie Biologique [Hôpital Robert Debré, Paris]
Larcher, Lise [Auteur]
Hopital Saint-Louis [AP-HP] [AP-HP]
Passet, Marie [Auteur]
Hopital Saint-Louis [AP-HP] [AP-HP]
Plessier, Aurélie [Auteur]
Centre de recherche sur l'Inflammation [CRI (UMR_S_1149 / ERL_8252 / U1149)]
Leblanc, Thierry [Auteur]
Centre de Référence National des Cytopénies Auto-immunes de l'Enfant [CEREVANCE]
Université Paris Cité [UPCité]
AP-HP Hôpital universitaire Robert-Debré [Paris]
Terriou, Louis [Auteur]
Institute for Translational Research in Inflammation - U 1286 [INFINITE]
Lebon, Delphine [Auteur]
CHU Amiens-Picardie
HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 [HEMATIM]
Alcazer, Vincent [Auteur]
Centre de Recherche en Cancérologie de Lyon [UNICANCER/CRCL]
Centre Hospitalier Lyon Sud [CHU - HCL] [CHLS]
Cathebras, Pascal [Auteur]
Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] [CHU ST-E]
Loschi, Michael [Auteur]
Centre Hospitalier Universitaire de Nice [CHU Nice]
Wadih, Abou‐chahla [Auteur]
Marcais, Ambroise [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Marceau-Renaut, Alice [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Couque, Nathalie [Auteur]
AP-HP Hôpital universitaire Robert-Debré [Paris]
Lioure, Bruno [Auteur]
Centre Hospitalier Universitaire [Strasbourg] [CHU Strasbourg]
Soulier, Jean [Auteur]
Hopital Saint-Louis [AP-HP] [AP-HP]
Ba, Ibrahima [Auteur]
Laboratoire de Génétique Moléculaire [Hôpital Bichat]
Socié, Gérard [Auteur]
Peffault de Latour, Regis [Auteur]
Kannengiesser, Caroline [Auteur]
Sicre de Fontbrune, Flore [Auteur]

Journal title :

British Journal of Haematology

Pages :

1835-1847

Publisher :

Wiley

Publication date :

2024-09-15

ISSN :

0007-1048

English keyword(s) :

acute myeloid leukaemia
bone marrow failure
myelodysplastic syndrome
telomere biology disorders

HAL domain(s) :

Sciences du Vivant [q-bio]/Médecine humaine et pathologie/Hématologie

English abstract : [en]

Summary Data on haematological features of telomere biology disorders (TBD) remain scarce. We describe haematological, extra‐haematological characteristics and prognosis of 127 genetically confirmed TBD patients diagnosed ...
Show more >Summary Data on haematological features of telomere biology disorders (TBD) remain scarce. We describe haematological, extra‐haematological characteristics and prognosis of 127 genetically confirmed TBD patients diagnosed after the age of 15. Ninety‐three index cases and 34 affected relatives were included. At diagnosis of TBD, 76.3% of index cases had haematological features, half pulmonary features and a third liver features. At diagnosis, bone marrow failure (BMF) was present in 59 (46.5%), myelodysplastic syndrome (MDS) in 22 (17.3%) and acute myeloid leukaemia (AML) in 2 (1.6%) while 13 (10.2%) developed or worsened bone marrow involvement during follow‐up. At diagnosis, compared to MDS/AML patients, BMF patients were younger (median 23.1 years vs. 43.8, p = 0.007), and had a better outcome (4‐year overall survival 76.3% vs. 31.8%, p < 0.001). While frequencies and burden of cytogenetical and somatic mutations increased significantly in myeloid malignancies, some abnormalities were also observed in patients with normal blood counts and BMF, notably somatic spliceosome variants. Solid cancers developed in 8.7% patients, mainly human papillomavirus‐related cancers and hepatocellular carcinomas. TBD is a multiorgan progressive disease. While BMF is the main haematological disorder, high‐risk myeloid malignancies are common, and are, together with age, the only factors associated with a worse outcome.Show less >

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Collections :

• Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277

Source :

Harvested from HAL