{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T07:11:11Z","timestamp":1793949071961,"version":"4.8.0"},"reference-count":50,"publisher":"American Society of Hematology","issue":"23","license":[{"start":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T00:00:00Z","timestamp":1727136000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,12,5]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>Telomere biology disorders (TBDs), caused by pathogenic germ line variants in telomere-related genes, present with multiorgan disease and a predisposition to cancer. Clonal hematopoiesis (CH) as a marker of cancer development and survival in TBDs is poorly understood. Here, we characterized the clonal landscape of a large cohort of 207 patients with TBD with a broad range of age and phenotype. CH occurred predominantly in symptomatic patients and in signature genes typically associated with cancers: PPM1D, POT1, TERT promoter (TERTp), U2AF1S34, and\/or TP53. Chromosome 1q gain (Chr1q+) was the commonest karyotypic abnormality. Clinically, multiorgan involvement and CH in TERTp, TP53, and splicing factor genes were associated with poorer overall survival. Chr1q+ and splicing factor or TP53 mutations significantly increased the risk of hematologic malignancies, regardless of clonal burden. Chr1q+ and U2AF1S34 mutated clones were premalignant events associated with the secondary acquisition of mutations in genes related to hematologic malignancies. Similar to the known effects of Chr1q+ and TP53-CH, functional studies demonstrated that U2AF1S34 mutations primarily compensated for aberrant upregulation of TP53 and interferon pathways in telomere-dysfunctional hematopoietic stem cells, highlighting the TP53 pathway as a canonical route of malignancy in TBD. In contrast, somatic POT1\/PPM1D\/TERTp mutations had distinct trajectories unrelated to cancer development. With implications beyond TBD, our data show that telomere dysfunction is a strong selective pressure for CH. In TBD, CH is a poor prognostic marker associated with worse overall survival. The identification of key regulatory pathways that drive clonal transformation in TBD allows for the identification of patients at a higher risk of cancer development.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1182\/blood.2024025023","type":"journal-article","created":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T16:14:50Z","timestamp":1727194490000},"page":"2402-2416","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":46,"title":["Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations"],"prefix":"10.1182","volume":"144","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3116-4588","authenticated-orcid":false,"given":"Fernanda","family":"Gutierrez-Rodrigues","sequence":"first","affiliation":[{"name":"1Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4648-5926","authenticated-orcid":false,"given":"Emma M.","family":"Groarke","sequence":"additional","affiliation":[{"name":"1Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6169-403X","authenticated-orcid":false,"given":"Natthakan","family":"Thongon","sequence":"additional","affiliation":[{"name":"2Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Jose","family":"Rodriguez-Sevilla","sequence":"additional","affiliation":[{"name":"2Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz Fernando B.","family":"Catto","sequence":"additional","affiliation":[{"name":"3Department of Medical Imaging, Hematology, and Oncology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, Ribeir\u00e3o Preto, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9565-5565","authenticated-orcid":false,"given":"Marena R.","family":"Niewisch","sequence":"additional","affiliation":[{"name":"4Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruba","family":"Shalhoub","sequence":"additional","affiliation":[{"name":"5Office of Biostatistics Research, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, 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Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Spitofsky","sequence":"additional","affiliation":[{"name":"1Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara A.","family":"Santana","sequence":"additional","affiliation":[{"name":"3Department of Medical Imaging, Hematology, and Oncology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, Ribeir\u00e3o Preto, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsung-Po","family":"Lai","sequence":"additional","affiliation":[{"name":"6Center of Human Development and Aging, Rutgers New Jersey Medical School, The State University of New Jersey, Newark, New Jersey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lemlem","family":"Alemu","sequence":"additional","affiliation":[{"name":"1Hematology Branch, National 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