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. 2024 Nov;205(5):1835-1847.
doi: 10.1111/bjh.19767. Epub 2024 Sep 15.

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

François Maillet  1 , Jacques-Emmanuel Galimard  2 , Raphaël Borie  3 , Elodie Lainey  4 , Lise Larcher  5   6 , Marie Passet  5   6 , Aurélie Plessier  7 , Thierry Leblanc  8 , Louis Terriou  9 , Delphine Lebon  10 , Vincent Alcazer  11 , Pascal Cathebras  12 , Michael Loschi  13 , Abou-Chahla Wadih  14 , Ambroise Marcais  15 , Alice Marceau-Renaut  16 , Nathalie Couque  17 , Bruno Lioure  18 , Jean Soulier  5   6 , Ibrahima Ba  19 , Gérard Socié  1 , Regis Peffault de Latour  1 , Caroline Kannengiesser  19 , Flore Sicre de Fontbrune  1
Affiliations

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

François Maillet et al. Br J Haematol. 2024 Nov.

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.

Keywords: acute myeloid leukaemia; bone marrow failure; myelodysplastic syndrome; telomere biology disorders.

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