Một trường hợp hội chứng VEXAS xuất hiện với các hạt đại thực bào xương không tạo nang: một tình huống chẩn đoán khó khăn
Tóm tắt
Từ khóa
Tài liệu tham khảo
Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in uba1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628–38.
Poulter JA, Collins JC, Cargo C, et al. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood. 2021;137(26):3676–81.
Ferrada MA, Sikora KA, Luo Y, et al. Somatic mutations in uba1 define a distinct subset of relapsing polychondritis patients with vexas. Arthritis Rheumatol. 2021;73(10):1886–95.
Patel BA, Ferrada MA, Grayson PC, Beck DB. VEXAS syndrome: an inflammatory and hematologic disease. Semin Hematol. 2021;58(4):201–3.
Grayson PC, Patel BA, Young NS. VEXAS syndrome. Blood. 2021;137(26):3591–4.
Bourbon E, Heiblig M, Gerfaud Valentin M, et al. Therapeutic options in VEXAS syndrome: insights from a retrospective series. Blood. 2021;137(26):3682–4.
Beck DB, Bodian DL, Shah V, et al. Estimated prevalence and clinical manifestations of uba1 variants associated with vexas syndrome in a clinical population. JAMA. 2023;329(4):318–24.
Patel N, Dulau-Florea A, Calvo KR. Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome. Semin Hematol. 2021;58(4):204–11.
Olteanu H, Patnaik M, Koster M, Warrington K, Go R, Mangaonkar A, Kourelis T, Bock A, Herrick J, Reichard K. Comprehensive Characterization of Bone Marrow Biopsy Findings in a Large Cohort of Patients with VEXAS Syndrome Reveals Distinct Morphologic Diagnostic Features: A Single-Institution Longitudinal Study of 94 Cases from 42 Individuals. PowerPoint presentation at the United States and Canadian Academy of Pathology Annual Meeting; March 11–16, 2023; New Orleans, LA.
Mehta AC, Ali SR. Mnemonic for the differential diagnosis of non-caseating granulomas. Sarcoidosis Vasc Diffuse Lung Dis. 2017;34(2):200–7.
Pagán AJ, Ramakrishnan L. The formation and function of granulomas. Annu Rev Immunol. 2018;36:639–65.
Templé M, Kosmider O. Vexas syndrome: a novelty in mds landscape. Diagnostics (Basel). 2022;12(7):1590.
Marnell CS, Bick A, Natarajan P. Clonal hematopoiesis of indeterminate potential (chip): linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease. J Mol Cell Cardiol. 2021;161:98–105.
Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424–33.
Gelsi-Boyer V, Brecqueville M, Devillier R, Murati A, Mozziconacci MJ, Birnbaum D. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol. 2012;5:12.
Zhang A, Wang S, Ren Q, Wang Y, Jiang Z. Prognostic value of ASXL1 mutations in patients with myelodysplastic syndromes and acute myeloid leukemia: a meta-analysis. Asia Pac J Clin Oncol Published online December 5, 2022.
Kusne Y, Fernandez J, Patnaik MM. Clonal hematopoiesis and VEXAS syndrome: survival of the fittest clones? Semin Hematol. 2021;58(4):226–9.
Obiorah IE, Patel BA, Groarke EM, et al. Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021;5(16):3203–15.
Heiblig M, Ferrada MA, Koster MJ, et al. Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study. Blood. 2022;140(8):927–31.
National Institutes of Health. (2021, August 31). A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects With VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome. ClinicalTrials.gov. Retrieved April 12, 2023, from https://clinicaltrials.gov/ct2/show/NCT05027945.