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An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)
- Authors:
- Olga María Moreno
- Angela Camila Paredes
- Fernando Suarez‑Obando
- Adriana Rojas
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Affiliations: Institute of Human Genetics, School of Medicine, Pontificia Universidad Javeriana, Bogotá 110231, Colombia - Published online on: July 15, 2021 https://doi.org/10.3892/br.2021.1450
- Article Number: 74
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Copyright: © Moreno et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
This article is mentioned in:
Abstract
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Wiedemann HR: Guido Fanconi (1892-1979) in memoriam. Eur J Pediatr. 132:131–132. 1979.PubMed/NCBI View Article : Google Scholar | |
Mehta PA and Tolar J: Fanconi Anemia. In: GeneReviews®. Adam MP, Ardinger HH, Pagon RA, et al (eds). University of Washington, Seattle, WA, 2002. | |
Keefe P and Bokhari SRA: Fanconi Syndrome. In: StatPearls. StatPearls Publishing, Treasure Island, FL, 2021. | |
Bagby GC: Multifunctional Fanconi proteins, inflammation and the Fanconi phenotype. EBioMedicine. 8:10–11. 2016.PubMed/NCBI View Article : Google Scholar | |
Tipping AJ, Pearson T, Morgan NV, Gibson RA, Kuyt LP, Havenga C, Gluckman E, Joenje H, de Ravel T, Jansen S, et al: Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci USA. 98:5734–5739. 2001.PubMed/NCBI View Article : Google Scholar | |
Strom CM, Crossley B, Redman JB, Quan F, Buller A, McGinniss MJ and Sun W: Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory. Genet Med. 6:145–152. 2004.PubMed/NCBI View Article : Google Scholar | |
Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, et al: A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood. 105:1946–1949. 2005.PubMed/NCBI View Article : Google Scholar | |
Rosenberg PS, Tamary H and Alter BP: How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel. Am J Med Genet A. 155A:1877–1883. 2011.PubMed/NCBI View Article : Google Scholar | |
Shimamura A and Alter BP: Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 24:101–122. 2010.PubMed/NCBI View Article : Google Scholar | |
D'Andrea AD: The Fanconi road to cancer. Genes Dev. 17:1933–1936. 2003.PubMed/NCBI View Article : Google Scholar | |
Niraj J, Färkkilä A and D'Andrea AD: The Fanconi Anemia Pathway in Cancer. Annu Rev Cancer Biol. 3:457–478. 2019.PubMed/NCBI View Article : Google Scholar | |
Ceccaldi R, Sarangi P and D'Andrea AD: The Fanconi anaemia pathway: New players and new functions. Nat Rev Mol Cell Biol. 17:337–349. 2016.PubMed/NCBI View Article : Google Scholar | |
Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, et al: X-linked inheritance of Fanconi anemia complementation group B. Nat Genet. 36:1219–1224. 2004.PubMed/NCBI View Article : Google Scholar | |
Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, et al: A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nat Commun. 6(8829)2015.PubMed/NCBI View Article : Google Scholar | |
Wang AT, Kim T, Wagner JE, Conti BA, Lach FP, Huang AL, Molina H, Sanborn EM, Zierhut H, Cornes BK, et al: A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. Mol Cell. 59:478–490. 2015.PubMed/NCBI View Article : Google Scholar | |
Nalepa G and Clapp DW: Fanconi anaemia and cancer: An intricate relationship. Nat Rev Cancer. 18:168–185. 2018.PubMed/NCBI View Article : Google Scholar | |
Stone MP, Cho YJ, Huang H, Kim HY, Kozekov ID, Kozekova A, Wang H, Minko IG, Lloyd RS, Harris TM, et al: Interstrand DNA cross-links induced by alpha,beta-unsaturated aldehydes derived from lipid peroxidation and environmental sources. Acc Chem Res. 41:793–804. 2008.PubMed/NCBI View Article : Google Scholar | |
Milletti G, Strocchio L, Pagliara D, Girardi K, Carta R, Mastronuzzi A, Locatelli F and Nazio F: Canonical and Noncanonical Roles of Fanconi Anemia Proteins: Implications in Cancer Predisposition. Cancers (Basel). 12(2684)2020.PubMed/NCBI View Article : Google Scholar | |
Che R, Zhang J, Nepal M, Han B and Fei P: Multifaceted Fanconi Anemia Signaling. Trends Genet. 34:171–183. 2018.PubMed/NCBI View Article : Google Scholar | |
Duxin JP and Walter JC: What is the DNA repair defect underlying Fanconi anemia? Curr Opin Cell Biol. 37:49–60. 2015.PubMed/NCBI View Article : Google Scholar | |
Singh TR, Saro D, Ali AM, Zheng XF, Du CH, Killen MW, Sachpatzidis A, Wahengbam K, Pierce AJ, Xiong Y, et al: MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. Mol Cell. 37:879–886. 2010.PubMed/NCBI View Article : Google Scholar | |
Shakeel S, Rajendra E, Alcón P, O'Reilly F, Chorev DS, Maslen S, Degliesposti G, Russo CJ, He S, Hill CH, et al: Structure of the Fanconi anaemia monoubiquitin ligase complex. Nature. 575:234–237. 2019.PubMed/NCBI View Article : Google Scholar | |
Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER III, Hurov KE, Luo J, Ballif BA, Gygi SP, Hofmann K, D'Andrea AD, et al: Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell. 129:289–301. 2007.PubMed/NCBI View Article : Google Scholar | |
Mehta PA, Davies SM, Leemhuis T, Myers K, Kernan NA, Prockop SE, Scaradavou A, O'Reilly RJ, Williams DA, Lehmann L, et al: Radiation-free, alternative-donor HCT for Fanconi anemia patients: Results from a prospective multi-institutional study. Blood. 129:2308–2315. 2017.PubMed/NCBI View Article : Google Scholar | |
Ebens CL, MacMillan ML and Wagner JE: Hematopoietic cell transplantation in Fanconi anemia: Current evidence, challenges and recommendations. Expert Rev Hematol. 10:81–97. 2017.PubMed/NCBI View Article : Google Scholar | |
Krausz C, Riera-Escamilla A, Chianese C, Moreno-Mendoza D, Ars E, Rajmil O, Pujol R, Bogliolo M, Blanco I, Rodríguez I, et al: From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genet Med. 21:189–194. 2019.PubMed/NCBI View Article : Google Scholar | |
Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC and Jorge AAL: Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. Eur J Med Genet. 61:130–133. 2018.PubMed/NCBI View Article : Google Scholar | |
Bianchi FT, Berto GE and Di Cunto F: Impact of DNA repair and stability defects on cortical development. Cell Mol Life Sci. 75:3963–3976. 2018.PubMed/NCBI View Article : Google Scholar | |
Auerbach AD: Fanconi anemia and its diagnosis. Mutat Res. 668:4–10. 2009.PubMed/NCBI View Article : Google Scholar | |
De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E and Frija J: The clinical and radiological features of Fanconi's anaemia. Clin Radiol. 55:340–345. 2000.PubMed/NCBI View Article : Google Scholar | |
Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG and Auerbach AD: The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry. Pediatrics. 91:1116–1120. 1993.PubMed/NCBI | |
Tercanli S, Miny P, Siebert MS, Hösli I, Surbek DV and Holzgreve W: Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound. Ultrasound Obstet Gynecol. 17:160–162. 2001.PubMed/NCBI View Article : Google Scholar | |
Schneider M, Chandler K, Tischkowitz M and Meyer S: Fanconi anaemia: Genetics, molecular biology, and cancer - implications for clinical management in children and adults. Clin Genet. 88:13–24. 2015.PubMed/NCBI View Article : Google Scholar | |
Risitano AM, Marotta S, Calzone R, Grimaldi F and Zatterale A: RIAF Contributors. Twenty years of the Italian Fanconi Anemia Registry: Where we stand and what remains to be learned. Haematologica. 101:319–327. 2016.PubMed/NCBI View Article : Google Scholar | |
Petryk A, Kanakatti Shankar R, Giri N, Hollenberg AN, Rutter MM, Nathan B, Lodish M, Alter BP, Stratakis CA and Rose SR: Endocrine disorders in Fanconi anemia: Recommendations for screening and treatment. J Clin Endocrinol Metab. 100:803–811. 2015.PubMed/NCBI View Article : Google Scholar | |
Rose SR, Myers KC, Rutter MM, Mueller R, Khoury JC, Mehta PA, Harris RE and Davies SM: Endocrine phenotype of children and adults with Fanconi anemia. Pediatr Blood Cancer. 59:690–696. 2012.PubMed/NCBI View Article : Google Scholar | |
Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, et al: Frequency and natural history of inherited bone marrow failure syndromes: The Israeli Inherited Bone Marrow Failure Registry. Haematologica. 95:1300–1307. 2010.PubMed/NCBI View Article : Google Scholar | |
Río P, Navarro S, Wang W, Sánchez-Domínguez R, Pujol RM, Segovia JC, Bogliolo M, Merino E, Wu N, Salgado R, et al: Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia. Nat Med. 25:1396–1401. 2019.PubMed/NCBI View Article : Google Scholar | |
Rosenberg PS, Alter BP and Ebell W: Cancer risks in Fanconi anemia: Findings from the German Fanconi Anemia Registry. Haematologica. 93:511–517. 2008.PubMed/NCBI View Article : Google Scholar | |
Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, Hanenberg H and Auerbach AD: A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 101:1249–1256. 2003.PubMed/NCBI View Article : Google Scholar | |
Savage SA and Walsh MF: Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia. Hematol Oncol Clin North Am. 32:657–668. 2018.PubMed/NCBI View Article : Google Scholar | |
Murillo-Sanjuán L, González-Vicent M, Argilés-Aparicio B, Badell-Serra I, Rodríguez-Villa A, Uria-Oficialdegui ML, López-Duarte M, Beléndez-Bieler C, Sastre-Urgelles A, Sevilla-Navarro J, et al: Survival and toxicity outcomes of hematopoietic stem cell transplantation for pediatric patients with Fanconi anemia: a unified multicentric national study from the Spanish Working Group for Bone Marrow Transplantation in Children. Bone Marrow Transplant. 56:1213–1216. 2021.PubMed/NCBI View Article : Google Scholar | |
Kutler DI, Patel KR, Auerbach AD, Kennedy J, Lach FP, Sanborn E, Cohen MA, Kuhel WI and Smogorzewska A: Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up. Laryngoscope. 126:870–879. 2016.PubMed/NCBI View Article : Google Scholar | |
Alter BP and Giri N: Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS. Am J Med Genet A. 170:1520–1524. 2016.PubMed/NCBI View Article : Google Scholar | |
Furquim CP, Pivovar A, Amenábar JM, Bonfim C and Torres-Pereira CC: Oral cancer in Fanconi anemia: Review of 121 cases. Crit Rev Oncol Hematol. 125:35–40. 2018.PubMed/NCBI View Article : Google Scholar | |
Rosenberg PS, Greene MH and Alter BP: Cancer incidence in persons with Fanconi anemia. Blood. 101:822–826. 2003.PubMed/NCBI View Article : Google Scholar | |
Bremer M, Schindler D, Gross M, Dörk T, Morlot S and Karstens JH: Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy. Strahlenther Onkol. 179:748–753. 2003.PubMed/NCBI View Article : Google Scholar | |
Katzenellenbogen RA, Carter JJ, Stern JE, Butsch Kovacic MS, Mehta PA, Sauter SL, Galloway DA and Winer RL: Skin and mucosal human papillomavirus seroprevalence in persons with Fanconi Anemia. Clin Vaccine Immunol. 22:413–420. 2015.PubMed/NCBI View Article : Google Scholar | |
Masserot C, Peffault de Latour R, Rocha V, Leblanc T, Rigolet A, Pascal F, Janin A, Soulier J, Gluckman E and Socié G: Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer. 113:3315–3322. 2008.PubMed/NCBI View Article : Google Scholar | |
Montanuy H, Martínez-Barriocanal Á, Antonio Casado J, Rovirosa L, Ramírez MJ, Nieto R, Carrascoso-Rubio C, Riera P, González A, Lerma E, et al: Gefitinib and Afatinib Show Potential Efficacy for Fanconi Anemia-Related Head and Neck Cancer. Clin Cancer Res. 26:3044–3057. 2020.PubMed/NCBI View Article : Google Scholar | |
de Jong EM, Felix JF, de Klein A and Tibboel D: Etiology of esophageal atresia and tracheoesophageal fistula: ‘mind the gap’. Curr Gastroenterol Rep. 12:215–222. 2010.PubMed/NCBI View Article : Google Scholar | |
Beauregard-Lacroix E, Tardif J, Lemyre E, Kibar Z, Faure C and Campeau PM: Genetic Testing in a Cohort of Complex Esophageal Atresia. Mol Syndromol. 8:236–243. 2017.PubMed/NCBI View Article : Google Scholar | |
Wegman-Ostrosky T and Savage SA: The genomics of inherited bone marrow failure: From mechanism to the clinic. Br J Haematol. 177:526–542. 2017.PubMed/NCBI View Article : Google Scholar | |
Clinton C and Gazda HT: Diamond-Blackfan Anemia. In: GeneReviews®. Adam MP, Ardinger HH, Pagon RA, et al (eds). University of Washington, Seattle, WA, 2009. | |
Shaikh H and Mewawalla P: Evans Syndrome. In: StatPearls. StatPearls Publishing, Treasure Island, FL, 2021. | |
Jameson-Lee M, Chen K, Ritchie E, Shore T, Al-Khattab O and Gergis U: Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature. Hematol Oncol Stem Cell Ther. 11:245–247. 2018.PubMed/NCBI View Article : Google Scholar | |
Solomon BD: VACTERL/VATER Association. Orphanet J Rare Dis. 6(56)2011.PubMed/NCBI View Article : Google Scholar | |
Van Maldergem L, Piard J, Larizza L and Wang LL: Baller-Gerold Syndrome. In: GeneReviews®. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G and Amemiya A (eds). University of Washington, Seattle, WA, 2007. | |
Kallen ME, Dulau-Florea A, Wang W and Calvo KR: Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications. Semin Hematol. 56:69–82. 2019.PubMed/NCBI View Article : Google Scholar | |
Gluckman E, Devergie A, Schaison G, Bussel A, Berger R, Sohier J and Bernard J: Bone marrow transplantation in Fanconi anaemia. Br J Haematol. 45:557–564. 1980.PubMed/NCBI | |
Oostra AB, Nieuwint AW, Joenje H and de Winter JP: Diagnosis of fanconi anemia: Chromosomal breakage analysis. Anemia. 2012(238731)2012.PubMed/NCBI View Article : Google Scholar | |
Auerbach AD: Diagnosis of Fanconi anemia by diepoxybutane analysis. Curr Protoc Hum Genet. 85:8.7.1–8.7.17. 2015.PubMed/NCBI View Article : Google Scholar | |
Esmer C, Sánchez S, Ramos S, Molina B, Frias S and Carnevale A: DEB test for Fanconi anemia detection in patients with atypical phenotypes. Am J Med Genet A. 124A:35–39. 2004.PubMed/NCBI View Article : Google Scholar | |
Castella M, Pujol R, Callén E, Ramírez MJ, Casado JA, Talavera M, Ferro T, Muñoz A, Sevilla J, Madero L, et al: Chromosome fragility in patients with Fanconi anaemia: Diagnostic implications and clinical impact. J Med Genet. 48:242–250. 2011.PubMed/NCBI View Article : Google Scholar | |
Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB and Alter BP: Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes. Cytogenet Genome Res. 144:15–27. 2014.PubMed/NCBI View Article : Google Scholar | |
Revy P, Kannengiesser C and Fischer A: Somatic genetic rescue in Mendelian haematopoietic diseases. Nat Rev Genet. 20:582–598. 2019.PubMed/NCBI View Article : Google Scholar | |
Nicoletti E, Rao G, Bueren JA, Río P, Navarro S, Surrallés J, Choi G and Schwartz JD: Mosaicism in Fanconi anemia: Concise review and evaluation of published cases with focus on clinical course of blood count normalization. Ann Hematol. 99:913–924. 2020.PubMed/NCBI View Article : Google Scholar | |
Flynn EK, Kamat A, Lach FP, Donovan FX, Kimble DC, Narisu N, Sanborn E, Boulad F, Davies SM, Gillio AP III, et al: Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes. Hum Mutat. 35:1342–1353. 2014.PubMed/NCBI View Article : Google Scholar | |
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, et al: Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. Blood. 117:3759–3769. 2011.PubMed/NCBI View Article : Google Scholar | |
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, et al: Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 57:258–268. 2020.PubMed/NCBI View Article : Google Scholar | |
Frohnmayer L, Van Ravenhorst S and Wirkkula L (eds): Fanconi anemia Clinical Care Guidelines. 5th edition. Fanconi Anemia Research Fund, Eugene, OR, 2020. | |
Rosenberg PS, Huang Y and Alter BP: Individualized risks of first adverse events in patients with Fanconi anemia. Blood. 104:350–355. 2004.PubMed/NCBI View Article : Google Scholar | |
de Winter JP and Joenje H: The genetic and molecular basis of Fanconi anemia. Mutat Res. 668:11–19. 2009.PubMed/NCBI View Article : Google Scholar | |
Wang X, Andreassen PR and D'Andrea AD: Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. Mol Cell Biol. 24:5850–5862. 2004.PubMed/NCBI View Article : Google Scholar | |
Lobitz S and Velleuer E: Guido Fanconi (1892-1979): A jack of all trades. Nat Rev Cancer. 6:893–898. 2006.PubMed/NCBI View Article : Google Scholar | |
Sasaki MS and Tonomura A: A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. Cancer Res. 33:1829–1836. 1973.PubMed/NCBI |