Current and novel directions in Fanconi anemia treatment methods - a literature review
DOI:
https://doi.org/10.5281/zenodo.8014773Cuvinte cheie:
fanconi anemia, gene therapy, stem cell transplant, hereditary anemia, needs-led researchRezumat
Fanconi anemia is a genetically-transmitted disease caused by biallelic inactivating mutations in more than 20 genes. While its main symptoms include severe anemia, other cytopenias and skin pigmentation impairments, the aspect which concerns both patients and caregivers is the connection between fanconi anemia and the development of several malignancies, especially breast, skin and blood-related cancers, as well as squamous cell carcinomas. Current treatment methods rely on anemia correction through stem cell transplantation, however it has become more and more evident that modern and more efficient therapies need to be developed. This needs-led literature review provides an overview of the main highlights in Fanconi anemia current and emerging therapeutic directions in order to improve the patients’ quality of life.
Referințe
Gueiderikh A, Maczkowiak-Chartois F, Rosselli F. A new frontier in Fanconi anemia: From DNA repair to ribosome biogenesis. Blood Reviews. 2022;52:100904.
Dufour C, Pierri F. Modern management of Fanconi anemia. Hematology. 2022;2022(1):649–57.
Altintas B, Giri N, McReynolds LJ, Best A, Alter BP. Genotype-phenotype and outcome associations in patients with Fanconi Anemia: The National Cancer Institute cohort. Haematologica. 2022;108(1):69–82.
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP. Genotype-phenotype associations in Fanconi Anemia: A Literature Review. Blood Reviews. 2019;37:100589.
Moreno O, Paredes A, Suarez-Obando F, Rojas A. An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (review). Biomedical Reports. 2021;15(3).
Savage SA, Walsh MF. Myelodysplastic syndrome, acute myeloid leukemia, and cancer surveillance in Fanconi anemia. Hematology/Oncology Clinics of North America. 2018;32(4):657–68.
Dutzmann CM, Spix C, Popp I, Kaiser M, Erdmann F, Erlacher M, et al. Cancer in children with Fanconi Anemia and ataxia-telangiectasia—a nationwide register-based Cohort Study in Germany. Journal of Clinical Oncology. 2022;40(1):32–9.
Sharma P, Sharma N, Sharma D. A narrative review on Fanconi anemia: Genetic and diagnostic considerations. Global Medical Genetics. 2022;09(03):237–41.
Bagby G. Recent advances in understanding hematopoiesis in Fanconi anemia. F1000Research. 2018;7:105.
Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, et al. X-linked inheritance of Fanconi Anemia Complementation Group B. Nature Genetics. 2004;36(11):1219–24.
Wang AT, Kim T, Wagner JE, Conti BA, Lach FP, Huang AL, et al. A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination. Molecular Cell. 2015;59(3):478–90.
Du W, Rani R, Sipple J, Schick J, Myers KC, Mehta P, et al. The FA pathway counteracts oxidative stress through selective protection of antioxidant defense gene promoters. Blood. 2012;119(18):4142–51.
Taylor AM, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, et al. Chromosome instability syndromes. Nature Reviews Disease Primers. 2019;5(1).
Anurogo D, Yuli Prasetyo Budi N, Thi Ngo M-H, Huang Y-H, Pawitan JA. Cell and gene therapy for anemia: Hematopoietic stem cells and gene editing. International Journal of Molecular Sciences. 2021;22(12):6275.
Bierings M, Bonfim C, Peffault De Latour R, Aljurf M, Mehta PA, Knol C, et al. Transplant results in adults with Fanconi anaemia. British Journal of Haematology. 2017;180(1):100–9.
Río P, Navarro S, Bueren JA. Advances in gene therapy for fanconi anemia. Human Gene Therapy. 2018;29(10):1114–23.
Díaz de Heredia C, Bierings M, Dalle J-H, Fioredda F, Strahm B. Fanconi’s anemia and other hereditary bone marrow failure syndromes. The EBMT Handbook. 2018;:587–93.
Beckham TH, Leeman J, Jillian Tsai C, Riaz N, Sherman E, Singh B, et al. Treatment modalities and outcomes of Fanconi anemia patients with head and neck squamous cell carcinoma: Series of 9 cases and review of the literature. Head & Neck. 2019;41(5):1418–26.
Beddok A, Krieger S, Castera L, Stoppa-Lyonnet D, Thariat J. Management of Fanconi anemia patients with head and neck carcinoma: Diagnosis and treatment adaptation. Oral Oncology. 2020;108:104816.
Zhang Q-S. Stem cell therapy for fanconi anemia. Stem Cells: Biology and Engineering. 2017;:19–28.
Lee RH, Kang H, Yom SS, Smogorzewska A, Johnson DE, Grandis JR. Treatment of Fanconi anemia–associated head and neck cancer: Opportunities to improve outcomes. Clinical Cancer Research. 2021;27(19):5168–87.
Reiss KA, Mick R, O'Hara MH, Teitelbaum U, Karasic TB, Schneider C, et al. Phase II study of maintenance rucaparib in patients with platinum-sensitive advanced pancreatic cancer and a pathogenic germline or somatic variant in brca1, brca2, or palb2. Journal of Clinical Oncology. 2021;39(22):2497–505.
Wesolowski R, Stover DG, Lustberg MB, Shoben A, Zhao M, Mrozek E, et al. Phase I study of veliparib on an intermittent and continuous schedule in combination with carboplatin in metastatic breast cancer: A safety and [18F]-fluorothymidine positron emission tomography biomarker study. The Oncologist. 2020;25(8).
Shafqat S, Tariq E, Parnes AD, Dasouki MJ, Ahmed SO, Hashmi SK. Role of gene therapy in fanconi anemia: A systematic and literature review with Future Directions. Hematology/Oncology and Stem Cell Therapy. 2021;14(4):290–301.
Dan M-O, Gutu B-I, Severin E, Tanase V-G. Innovative and needs-led research on β-thalassemia treatment methods. Frontiers in Hematology. 2023;1.
van de Vrugt HJ, Harmsen T, Riepsaame J, Alexantya G, van Mil SE, de Vries Y, et al. Effective CRISPR/Cas9-mediated correction of a Fanconi anemia defect by error-prone end joining or templated repair. Scientific Reports. 2019;9(1).
Pollard JA, Furutani E, Liu S, Esrick E, Cohen LE, Bledsoe J, et al. Metformin for treatment of cytopenias in children and young adults with Fanconi anemia. Blood Advances. 2022;6(12):3803–11.
