Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383:2628–38. https://doi.org/10.1056/NEJMoa2026834.
Article CAS PubMed PubMed Central Google Scholar
Obiorah IEBD, Wang W, Ombrello A, Ferrada MA, Wu Z, Sikora KA, et al. Myelodysplasia and bone marrow manifestations of somatic UBA1 mutated autoinflammatory disease. Blood. 2020;136:20–21.
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, et al. Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021;5:3203–15. https://doi.org/10.1182/bloodadvances.2021004976.
Article CAS PubMed PubMed Central Google Scholar
Stiburkova B, Pavelcova K, Belickova M, Magaziner SJ, Collins JC, Werner A, et al. Novel somatic UBA1 variant in a patient With VEXAS syndrome. Arthritis Rheumatol. 2023;75:1285–90. https://doi.org/10.1002/art.42471.
Article CAS PubMed PubMed Central Google Scholar
Sirenko M, Bernard E, Creignou M, Domenico D, Farina A, Arango Ossa JE, et al. Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes. Blood. 2024. https://doi.org/10.1182/blood.2023023723.
Article PubMed PubMed Central Google Scholar
Bourbon E, Heiblig M, Gerfaud Valentin M, Barba T, Durel CA, Lega JC, et al. Therapeutic options in VEXAS syndrome: insights from a retrospective series. Blood. 2021;137:3682–4. https://doi.org/10.1182/blood.2020010177.
Article CAS PubMed Google Scholar
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, et al. Spectrum of clonal hematopoiesis in VEXAS syndrome. Blood. 2023;142:244–59. https://doi.org/10.1182/blood.2022018774.
Article CAS PubMed PubMed Central Google Scholar
Bernard E, Nannya Y, Hasserjian RP, Devlin SM, Tuechler H, Medina-Martinez JS, et al. Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes. Nat Med. 2020;26:1549–56. https://doi.org/10.1038/s41591-020-1008-z.
Article CAS PubMed PubMed Central Google Scholar
Weeks LD, Niroula A, Neuberg D, Wong W, Lindsley RC, Luskin M, et al. Prediction of risk for myeloid malignancy in clonal hematopoiesis. NEJM Evid. 2023; 2. https://doi.org/10.1056/evidoa2200310.
Oster HS, Crouch S, Smith A, Yu G, Abu Shrkihe B, Baruch S, et al. A predictive algorithm using clinical and laboratory parameters may assist in ruling out and in diagnosing MDS. Blood Adv. 2021;5:3066–75. https://doi.org/10.1182/bloodadvances.2020004055.
Article CAS PubMed PubMed Central Google Scholar
Radhachandran A, Garikipati A, Iqbal Z, Siefkas A, Barnes G, Hoffman J, et al. A machine learning approach to predicting risk of myelodysplastic syndrome. Leuk Res. 2021;109:106639 https://doi.org/10.1016/j.leukres.2021.106639.
Article CAS PubMed Google Scholar
Galli A, Todisco G, Catamo E, Sala C, Elena C, Pozzi S, et al. Relationship between clone metrics and clinical outcome in clonal cytopenia. Blood. 2021;138:965–76. https://doi.org/10.1182/blood.2021011323.
Article CAS PubMed Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. https://doi.org/10.1038/gim.2015.30.
Article PubMed PubMed Central Google Scholar
Li P, Venkatachalam S, Ospina Cordona D, Wilson L, Kovacsovics T, Moser KA, et al. A clinical, histopathological, and molecular study of two cases of VEXAS syndrome without a definitive myeloid neoplasm. Blood Adv. 2022;6:405–9. https://doi.org/10.1182/bloodadvances.2021005243.
Article CAS PubMed PubMed Central Google Scholar
Watson CJ, Papula AL, Poon GYP, Wong WH, Young AL, Druley TE, et al. The evolutionary dynamics and fitness landscape of clonal hematopoiesis. Science. 2020;367:1449–54. https://doi.org/10.1126/science.aay9333.
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