AI Article Synopsis

  • The study examines the blood-related characteristics and overall prognosis of 127 patients with telomere biology disorders (TBD) who were diagnosed after age 15, highlighting a lack of data on this topic.
  • At diagnosis, significant haematological issues were present in nearly 76% of patients, with bone marrow failure (BMF) being the most common, affecting 46.5% of the cases, while some patients also developed additional complications over time.
  • The findings suggest that BMF patients tend to be younger and have a better survival rate compared to those with higher-risk blood cancers, indicating TBD as a complex multi-organ disease needing further research on its evolutionary nature and outcomes.

Article 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.

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Source
http://dx.doi.org/10.1111/bjh.19767DOI Listing

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