Anemia de Fanconi (Fanconi Anemia)

– A anemia de Fanconi, também conhecida como síndrome de pancitopenia de Fanconi, é uma doença genética rara e heterogênea, encontrada em todos os grupos étnicos e observada em cerca de 1 em cada 360 mil nascimentos.

– Atualmente, é considerada a causa hereditária mais comum de falência da medula óssea. Os pacientes têm um risco aumentado para tumores hematológicos e sólidos (aqui estão incluídos leucemia, carcinomas e tumores hepáticos).

■ Modern management of Fanconi anemia

Carlo Dufour, Filomena Pierri

Hematology Am Soc Hematol Educ Program. 2022 (1): 649-65

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821189/

■ A narrative review on Fanconi anemia: genetic and diagnostic considerations

Preksha Sharma, Neha Sharma, Dhruva Sharma

Glob Med Genet. 2022 Sep; 9(3): 237–241

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9444348/

■ Fanconi anemia: examining guidelines for testing all patient with hand anomalies using a machine learning approach

Christoph Wallner, Jane Hurst, Björn Behr, et al

Children (Basel) 2022 Jan; 9(1): 85

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774393/

■ IL17A and IL17RA gene polmorphisms in Falconi anemia

R Z Mobile, M C Mendes, C Machado-Souza et al

Brazilian Oral Research 2023, vol 37:

https://www.scielo.br/j/bor/a/v7HJHpPcfS47YfVkLxPcDTL/?lang=en

■ Diagnósticos de enfermagem em transplantados de células-tronco hematopoéticas por anemia de Fanconi

L C S Sandri, L Pontes, C M S Bonfim, S Z Kusma

Rev Bras. Enferm 2022, vol 75 (3)

https://www.scielo.br/j/reben/a/3jP67HLFCYHpHyWvwN6qTzv/?lang=en

■ Management of oral leukoplakia in patients with Fanconi anemia

Roberto Pippi, Cira Di Gioia, Ursula La Rocca et al

J Oral Maxillofac Pathol. 2022 Feb; 26(Suppl 1): S133–S138

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017844/

■ Head and neck cancer susceptilbility and metabolismo in Fanconi anemia

Tafadzwa Chihanga, Sara Vicente-Muñoz, Sonya Ruiz-Torres et al

Cancers (Basel) 2022 Apr; 14(8): 2040

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9025423/

■ Metformin for treatment of cytopenias in children and young adults with Fanconi anemia

Jessica A. Pollard, Elissa Furutani, Shanshan Liu, et al

Blood Adv. 2022 Jun 28; 6(12): 3803–3811

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631552/

■ Fanconi anemia and dyskeratosis congênita/telomere biology disorders: two inherited bone marrow failure syndromes with genomic instability

Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Paula Leal-Anaya et al

Front Oncol. 2022; 12: 949435

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453478/

■ A new multi-color FISH assay for Brush biopsy-based detection of chromosomal aneuploidy in oral (pre) cancer in patients with Fanconi anemia

Bruno Eduardo Silva de Araujo, Mona Markgraf, Isabela Karoline de Santana Almeida Araujo et al

Cancers (Basel) 2022 Jul; 14(14): 3468

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319768/

■ Detection of cytogenetic changes and chromosomal aneuploidy with fluorescente in situ hybridization in cytological specimens of oral cancers in Fanconi anemia – proof of concept

Bruno Eduardo Silva de Araujo, Eunike Velleuer, Ralf Dietrich et al

Clin Exp Dent Res. 2022 Feb; 8(1): 108–116

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874072/

■ Self-perception of periodontal health status among individuals with Fanconi anemia

N N Perdoncini, C P Furquin, C M S Bonfim et al

Hematology, Transfusion and Cell Therapy 2021, vol 43 (4): 453-458

https://www.scielo.br/j/htct/a/nyxjTkVMm8RZxvKtjJqSspp/?lang=en

■ Características clínicas de pacientes com anemia de Fanconi

P R G Zen, F N de Moraes, R F M Rosa et al

Rev.paul.pediatr 2011, vol 29 (3)

https://www.scielo.br/j/rpp/a/nYnFHby3bKzpRCnJRxNSLFJ/?lang=pt

■ Acesso gratuito