Research & Literature

Endocrine disorders in Fanconi anemia: recommendations for screening and treatment.

Petryk A, Kanakatti Shankar R, Giri N, et al.

The Journal of clinical endocrinology and metabolism 2015; (100(3)):803-11 doi:10.1210/jc.2014-4357.

Oral leukoplakia in patients with Fanconi anaemia without hematopoietic stem cell transplantation.

Grein Cavalcanti L, Lyko KF, Araújo RL, et al.

Pediatric blood & cancer 2015; (62(6)):1024-6 doi:10.1002/pbc.25417.

Alternative donor hematopoietic cell transplantation for Fanconi anemia.

MacMillan ML, DeFor TE, Young JA, et al.

Blood 2015; (125(24)):3798-804 doi:10.1182/blood-2015-02-626002.

Diagnosis of Fanconi anemia by diepoxybutane analysis.

Auerbach AD

Current protocols in human genetics 2015; (85()):8.7.1-8.7.17 doi:10.1002/0471142905.hg0807s85.

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

Ghemlas I, Li H, Zlateska B, et al.

Journal of medical genetics 2015; (52(9)):575-84 doi:10.1136/jmedgenet-2015-103270.

Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up.

Kutler DI, Patel KR, Auerbach AD, et al.

The Laryngoscope 2016; (126(4)):870-9 doi:10.1002/lary.25726.

Comparison of different platelet count thresholds to guide administration of prophylactic platelet transfusion for preventing bleeding in people with haematological disorders after myelosuppressive chemotherapy or stem cell transplantation.

Estcourt LJ, Stanworth SJ, Doree C, et al.

The Cochrane database of systematic reviews 2015; CD010983 doi:10.1002/14651858.CD010983.pub2.

Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned.

Risitano AM, Marotta S, Calzone R, et al.

Haematologica 2016; (101(3)):319-27 doi:10.3324/haematol.2015.133520.

Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany.

Paustian L, Chao MM, Hanenberg H, et al.

Pediatric hematology and oncology 2016; (33(1)):5-12 doi:10.3109/08880018.2015.1129567.

Late effects in patients with Fanconi anemia following allogeneic hematopoietic stem cell transplantation from alternative donors.

Anur P, Friedman DN, Sklar C, et al.

Bone marrow transplantation 2016; (51(7)):938-44 doi:10.1038/bmt.2016.32.

Dental Perspective of Rare Disease of Fanconi Anemia: Case Report with Review.

Goswami M, Bhushan U, Goswami M

Clinical medicine insights. Case reports 2016; (9()):25-30 doi:10.4137/CCRep.S37931.

How I treat MDS and AML in Fanconi anemia.

Peffault de Latour R, Soulier J

Blood 2016; (127(24)):2971-9 doi:10.1182/blood-2016-01-583625.

Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.

Alter BP, Giri N

American journal of medical genetics. Part A 2016; (170(6)):1520-4 doi:10.1002/ajmg.a.37637.

Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

Esmail Nia G, Fadaee M, Royer R, et al.

Archives of Iranian medicine 2016; (19(4)):236-40 doi:0161904/AIM.003.

Cellular response to DNA interstrand crosslinks: the Fanconi anemia pathway.

Lopez-Martinez D, Liang CC, Cohn MA

Cellular and molecular life sciences : CMLS 2016; (73(16)):3097-114 doi:10.1007/s00018-016-2218-x.

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.

Kalejaiye A, Giri N, Brewer CC, et al.

Pediatric blood & cancer 2016; (63(12)):2139-2145 doi:10.1002/pbc.26155.

Four decades of stem cell transplantation for Fanconi anaemia in the Netherlands.

Smetsers SE, Smiers FJ, Bresters D, et al.

British journal of haematology 2016; (174(6)):952-61 doi:10.1111/bjh.14165.

Bone mineral density in patients with inherited bone marrow failure syndromes.

Shankar RK, Giri N, Lodish MB, et al.

Pediatric research 2017; (82(3)):458-464 doi:10.1038/pr.2017.117.

Screening for mutations in two exons of FANCG gene in Pakistani population.

Aymun U, Iram S, Aftab I, et al.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2017; (161(2)):158-163 doi:10.5507/bp.2017.030.

Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.

Savage SA, Dufour C

Seminars in hematology 2017; (54(2)):105-114 doi:10.1053/j.seminhematol.2017.04.004.

Antibody response to human papillomavirus vaccination and natural exposure in individuals with Fanconi Anemia.

Mehta PA, Sauter S, Zhang X, et al.

Vaccine 2017; (35(48 Pt B)):6712-6719 doi:10.1016/j.vaccine.2017.10.015.

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Alter BP, Giri N, Savage SA, Rosenberg PS

Haematologica 2018; (103(1)):30-39 doi:10.3324/haematol.2017.178111.

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

Asur RS, Kimble DC, Lach FP, et al.

Molecular genetics & genomic medicine 2018; (6(1)):77-91 doi:10.1002/mgg3.350.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Alter BP

Hematology. American Society of Hematology. Education Program 2017; (2017(1)):88-95 doi:10.1182/asheducation-2017.1.88.

Treatment of inherited bone marrow failure syndromes beyond transplantation.

Calado RT, Clé DV

Hematology. American Society of Hematology. Education Program 2017; (2017(1)):96-101 doi:10.1182/asheducation-2017.1.96.

Outpatient Management of Fever and Neutropenia in Adults Treated for Malignancy: American Society of Clinical Oncology and Infectious Diseases Society of America Clinical Practice Guideline Update.

Taplitz RA, Kennedy EB, Bow EJ, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018; (36(14)):1443-1453 doi:10.1200/JCO.2017.77.6211.

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.

Sathyanarayana V, Lee B, Wright NB, et al.

Pediatric nephrology (Berlin, Germany) 2018; (33(9)):1547-1551 doi:10.1007/s00467-018-3952-0.

Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia.

Wang Y, Zhou W, Alter BP, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018; (24(10)):2003-2008 doi:10.1016/j.bbmt.2018.05.027.

Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.

Savage SA, Walsh MF

Hematology/oncology clinics of North America 2018; (32(4)):657-668 doi:10.1016/j.hoc.2018.04.002.

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Mori M, Hira A, Yoshida K, et al.

Haematologica 2019; (104(10)):1962-1973 doi:10.3324/haematol.2018.207241.

Results of Allogenic Hematopoietic Stem Cell Transplantation in Fanconi Anemia Caused by Bone Marrow Failure: Single-Regimen, Single-Center Experience of 14 Years.

Tuysuz G, Guler E, Ozel D, Kupesiz A

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2019; (25(10)):2017-2023 doi:10.1016/j.bbmt.2019.05.039.

Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients.

Kelaidi C, Makis A, Petrikkos L, et al.

Journal of pediatric hematology/oncology 2019; (41(8)):612-617 doi:10.1097/MPH.0000000000001549.

Genotype-phenotype associations in Fanconi anemia: A literature review.

Fiesco-Roa MO, Giri N, McReynolds LJ, et al.

Blood reviews 2019; (37()):100589 doi:10.1016/j.blre.2019.100589.

Two enemies, one fight: An update of oral cancer in patients with Fanconi anemia.

Amenábar JM, Torres-Pereira CC, Tang KD, Punyadeera C

Cancer 2019; (125(22)):3936-3946 doi:10.1002/cncr.32435.

Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia.

Río P, Navarro S, Wang W, et al.

Nature medicine 2019; (25(9)):1396-1401 doi:10.1038/s41591-019-0550-z.

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O, Goldberg TA, Yacobovich J, et al.

Haematologica 2020; (105(7)):1825-1834 doi:10.3324/haematol.2019.222877.

Monitoring and treatment of MDS in genetically susceptible persons.

Davies SM

Hematology. American Society of Hematology. Education Program 2019; (2019(1)):105-109 doi:10.1182/hematology.2019000020.

Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization.

Nicoletti E, Rao G, Bueren JA, et al.

Annals of hematology 2020; (99(5)):913-924 doi:10.1007/s00277-020-03954-2.

FANCD2-FANCI is a clamp stabilized on DNA by monoubiquitination of FANCD2 during DNA repair.

Alcón P, Shakeel S, Chen ZA, et al.

Nature structural & molecular biology 2020; (27(3)):240-248 doi:10.1038/s41594-020-0380-1.

Association of clinical severity with FANCB variant type in Fanconi anemia.

Jung M, Ramanagoudr-Bhojappa R, van Twest S, et al.

Blood 2020; (135(18)):1588-1602 doi:10.1182/blood.2019003249.

Long-term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis.

Yabe M, Morio T, Tabuchi K, et al.

International journal of hematology 2021; (113(1)):134-144 doi:10.1007/s12185-020-02991-x.

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.

Murillo-Sanjuán L, González-Vicent M, Argilés Aparicio B, et al.

Bone marrow transplantation 2021; (56(5)):1213-1216 doi:10.1038/s41409-020-01172-y.

HLA-haploidentical TCRαβ+/CD19+-depleted stem cell transplantation in children and young adults with Fanconi anemia.

Strocchio L, Pagliara D, Algeri M, et al.

Blood advances 2021; (5(5)):1333-1339 doi:10.1182/bloodadvances.2020003707.

Structure of the FA core ubiquitin ligase closing the ID clamp on DNA.

Wang S, Wang R, Peralta C, et al.

Nature structural & molecular biology 2021; (28(3)):300-309 doi:10.1038/s41594-021-00568-8.

Human Papillomavirus Oral- and Sero- Positivity in Fanconi Anemia.

Sauter SL, Zhang X, Romick-Rosendale L, et al.

Cancers 2021; (13(6)) doi:10.3390/cancers13061368.

Three Cases of Esophageal Cancer Related to Fanconi Anemia.

Fujisawa M, Matsushima M, Ueda T, et al.

Internal medicine (Tokyo, Japan) 2021; (60(18)):2953-2959 doi:10.2169/internalmedicine.6926-20.

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

Ramírez MJ, Pujol R, Trujillo-Quintero JP, et al.

American journal of hematology 2021; (96(8)):989-999 doi:10.1002/ajh.26234.

Post-hematopoietic stem cell transplant squamous cell carcinoma in patients with Fanconi anemia: a dreadful enemy.

Murillo-Sanjuán L, Balmaña J, de Pablo García-Cuenca A, et al.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2022; (24(2)):388-392 doi:10.1007/s12094-021-02693-8.

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.

George M, Solanki A, Chavan N, et al.

Human mutation 2021; (42(12)):1648-1665 doi:10.1002/humu.24286.

An experience with 124 cases of fanconi anemia: clinical spectrum, hematological parameters and chromosomal breakage analysis.

Mahmood R, Mahmood A, Khan SA, Jaffar R

American journal of blood research 2021; (11(5)):498-503.

Emergency management of fever and neutropenia in children with cancer: A review.

Pulcini CD, Lentz S, Saladino RA, et al.

The American journal of emergency medicine 2021; (50()):693-698 doi:10.1016/j.ajem.2021.09.055.

Mechanisms of somatic transformation in inherited bone marrow failure syndromes.

Choijilsuren HB, Park Y, Jung M

Hematology. American Society of Hematology. Education Program 2021; (2021(1)):390-398 doi:10.1182/hematology.2021000271.

Etiologies of hearing loss in Fanconi Anemia.

Karempelis P, Greenlund L, Gruhl R, et al.

International journal of pediatric otorhinolaryngology 2022; (155()):111068 doi:10.1016/j.ijporl.2022.111068.

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.

Reyes P, García-de Teresa B, Juárez U, et al.

International journal of molecular sciences 2022; (23(4)) doi:10.3390/ijms23042334.

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Altintas B, Giri N, McReynolds LJ, et al.

Haematologica 2023; (108(1)):69-82 doi:10.3324/haematol.2021.279981.

Genetics and genomics of bone marrow failure syndrome.

Kim HY, Kim HJ, Kim SH

Blood research 2022; (57(S1)):86-92 doi:10.5045/br.2022.2022056.

Somatic mosaicism in patients with Fanconi anaemia: Proposal of alternative tissue for inconclusive diagnoses.

Oliveira Pereira C, Pillonetto DV, Borgonovo T, et al.

International journal of laboratory hematology 2022; (44(5)):900-906 doi:10.1111/ijlh.13874.

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.

Repczynska A, Julga K, Skalska-Sadowska J, et al.

Orphanet journal of rare diseases 2022; (17(1)):282 doi:10.1186/s13023-022-02424-4.

Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways.

Hater N, Iwaniuk KM, Leifeld C, et al.

Human molecular genetics 2022; (31(24)):4241-4254 doi:10.1093/hmg/ddac177.

Oral Premalignant and Malignant Lesions in Fanconi Anemia Patients.

Archibald H, Kalland K, Kuehne A, et al.

The Laryngoscope 2023; (133(7)):1745-1748 doi:10.1002/lary.30370.

Cytogenetics in Fanconi Anemia: The Importance of Follow-Up and the Search for New Biomarkers of Genomic Instability.

Merfort LW, Lisboa MO, Cavalli LR, Bonfim CMS

International journal of molecular sciences 2022; (23(22)) doi:10.3390/ijms232214119.

Modern management of Fanconi anemia.

Dufour C, Pierri F

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):649-657 doi:10.1182/hematology.2022000393.

Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia.

Sebert M, Gachet S, Leblanc T, et al.

Cell stem cell 2023; (30(2)):153-170.e9 doi:10.1016/j.stem.2023.01.006.

Gonadal function in pediatric Fanconi anemia patients treated with hematopoietic stem cell transplant.

Koo J, Grom-Mansencal I, Howell JC, et al.

Haematologica 2023; (108(9)):2358-2368 doi:10.3324/haematol.2022.282094.

Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.

Joshi G, Arthur NBJ, Geetha TS, et al.

Journal of medical genetics 2023; (60(8)):801-809 doi:10.1136/jmg-2022-108714.

Fanconi anemia-associated chromosomal radial formation is dependent on POLθ-mediated alternative end joining.

Rogers CB, Kram RE, Lin K, et al.

Cell reports 2023; (42(5)):112428 doi:10.1016/j.celrep.2023.112428.

Cytogenetic findings in Polish patients with suspected Fanconi anemia.

Repczyńska A, Jułga K, Lorenc A, et al.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2024; (33(4)):361-368 doi:10.17219/acem/168825.

Research progress of the Fanconi anemia pathway and premature ovarian insufficiency†.

Zhao J, Zhang Y, Li W, et al.

Biology of reproduction 2023; (109(5)):570-585 doi:10.1093/biolre/ioad110.

Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study.

Deng J, Altintas B, Haley JS, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(3)):101042 doi:10.1016/j.gim.2023.101042.

When to consider inherited marrow failure syndromes in adults.

Gutierrez-Rodrigues F, Patel BA, Groarke EM

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):548-555 doi:10.1182/hematology.2023000488.

Liver abnormalities are frequent and persistent in patients with Fanconi anemia.

Snyder AJ, Campbell KM, Lane A, et al.

Blood advances 2024; (8(6)):1427-1438 doi:10.1182/bloodadvances.2023012215.

Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemia.

Lum SH, Eikema DJ, Piepenbroek B, et al.

Blood 2024; (144(12)):1329-1342 doi:10.1182/blood.2023022751.

Longitudinal clinical manifestations of Fanconi anemia: A systematized review.

Hoover A, Turcotte LM, Phelan R, et al.

Blood reviews 2024; (68()):101225 doi:10.1016/j.blre.2024.101225.

Updated Review for Guidelines for Cervical Cancer Screening in Immunosuppressed Women Without HIV Infection.

Moscicki AB, Flowers L, Huchko MJ, et al.

Journal of lower genital tract disease 2025; (29(2)):168-179 doi:10.1097/LGT.0000000000000866.

Strategies for early detection and detailed characterization of oral lesions and head and neck squamous cell carcinoma in Fanconi anemia patients.

Beddok A, Velleuer E, Sicre de Fontbrune F, et al.

Cancer letters 2025; (617()):217529 doi:10.1016/j.canlet.2025.217529.

Long-Term Outcome of Fanconi Anemia Patients From the Italian Registry on Behalf of the Marrow Failure Study Group of the AIEOP (Italian Association for Pediatric Haematology-Oncology).

Ricci E, Bagnasco F, Pierri F, et al.

American journal of hematology 2025; (100(8)):1387-1396 doi:10.1002/ajh.27724.

Hematopoietic Stem Cell Transplant in Adult Patients with Fanconi Anemia: A Review.

Rockwell B, Ramamurthy P, Verceles JA, et al.

Diseases (Basel, Switzerland) 2025; (13(7)) doi:10.3390/diseases13070195.

Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.

Bukhari SI, Akbar F, Kirmani S, et al.

Expert review of hematology 2026; (19(3)):345-355 doi:10.1080/17474086.2025.2610748.

Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.

Fluhler H, Granger E, Sharp M, et al.

Genetics in medicine open 2025; (3()):103447 doi:10.1016/j.gimo.2025.103447.

Prediction of myeloid malignant cells in Fanconi anemia using machine learning.

Flores-Mejía LA, Siliceo P, Figueroa UJ, et al.

PloS one 2026; (21(1)):e0340578 doi:10.1371/journal.pone.0340578.

Efficacy and safety of gene therapy in pediatric patients with Fanconi anemia: a systematic review.

Cano Reyes SE, Rincón Fuerte C, Pantano Jiménez SC, et al.

Anales de pediatria 2026; (104(4)):504176 doi:10.1016/j.anpede.2026.504176.

Early, frequent, yet reversible: acute kidney injury after hematopoietic stem cell transplantation in pediatric Fanconi anemia and long-term renal outcomes.

Askarian F, Karimizadeh Z, Kalantari A, et al.

Pediatric nephrology (Berlin, Germany) 2026; doi:10.1007/s00467-026-07390-8.