Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients - Université de Picardie Jules Verne
Article Dans Une Revue British Journal of Haematology Année : 2024

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

Jacques‐emmanuel Galimard
  • Fonction : Auteur
Abou‐chahla Wadih
  • Fonction : Auteur
Gérard Socié
Regis Peffault de Latour
  • Fonction : Auteur
Caroline Kannengiesser
  • Fonction : Auteur
Flore Sicre de Fontbrune

Résumé

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.

Dates et versions

hal-04702674 , version 1 (19-09-2024)

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François Maillet, Jacques‐emmanuel Galimard, Raphaël Borie, Elodie Lainey, Lise Larcher, et al.. Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients. British Journal of Haematology, 2024, ⟨10.1111/bjh.19767⟩. ⟨hal-04702674⟩
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