Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients
Year: 2024
Type: article
Study design: Observational Study
Abstract: 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.
Source: British Journal of Haematology
DOI: 10.1111/bjh.19767
Authors: François Maillet, Jacques‐Emmanuel Galimard, Raphaël Borie, Elodie Lainey, Lise Larcher, Marie Passet, Aurélie Plessier, Thierry Leblanc, Louis Terriou, Delphine Lebon, Vincent Alcazer, Pascal Cathebras, Michael Loschi, Abou‐Chahla Wadih, Ambroise Marcais, Alice Marceau‐Renaut, Nathalie Couque, Bruno Lioure, Jean Soulier, Ibrahima Ba, Gérard Socié, Regis Peffault de Latour, Caroline Kannengiesser, Flore Sicre de Fontbrune
Institutions: Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Saint-Louis, European Society for Blood and Marrow Transplantation, Hôpital Bichat-Claude-Bernard, Hôpital Robert-Debré, Centre National de la Recherche Scientifique, Inserm, Génomes, biologie cellulaire et thérapeutiques, Hôpital Beaujon, Université de Lille, Centre Hospitalier Universitaire de Lille, Centre Hospitalier Universitaire Amiens-Picardie, Hospices Civils de Lyon, Hôpital Lyon Sud, Centre Hospitalier Universitaire de Saint-Étienne, Centre Hospitalier Universitaire de Nice, Hôpital Necker-Enfants Malades, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,940
OpenAlex ID: W4402555003