Diagnosis and management of hematologic malignancies in the context of telomere biology disorders.

Telomere biology disorders (TBDs) are inherited conditions characterized by premature telomere shortening, leading to multisystemic manifestations and a high predisposition to hematologic complications. These include mainly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) that may show a unique mutational spectrum and cytogenetic abnormalities. Management of MDS/AML in TBD is challenging due to heightened sensitivity to DNA-damaging agents and transplant-related toxicity, necessitating individualized approaches and multidisciplinary care. Emerging therapies such as thymidine supplementation, gene therapy, and treatment with antisense oligonucleotides, offer promising results for improving clinical outcomes. Continued research and collaborative efforts are essential to optimize screening, risk stratification, and treatment strategies for this vulnerable population.