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Cancer Lett. 2020 Mar 1;472:1-7. doi: 10.1016/j.canlet.2019.12.008. Epub 2019 Dec 10.

Chromosome fragility in the buccal epithelium in patients with Fanconi anemia.

Author information

1
Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Sant Pau Biomedical Research Institute, Sant Pau Hospital, Barcelona, Spain.
2
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
3
High Risk and Cancer Prevention Unit, VHIO, Barcelona, Spain.
4
High Risk and Cancer Prevention Unit, VHIO, Barcelona, Spain; Medical Oncology Department Hospital Vall D'Hebron, Barcelona, Spain.
5
Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Pediatric Hematology Department, Hospital Sant Joan de Déu, University of Barcelona, Esplugues de Llobregat, Barcelona, Spain.
6
Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Sant Pau Biomedical Research Institute, Sant Pau Hospital, Barcelona, Spain; Department of Genetics, Sant Pau Hospital, Barcelona, Spain. Electronic address: jsurralles@santpau.cat.

Abstract

Fanconi anemia (FA) is a rare genome instability syndrome characterized by progressive bone marrow failure and predisposition to cancer, especially head and neck squamous cell carcinoma. Surgical resection is the standard of care for solid tumors, as patients with FA do not tolerate genotoxic chemotherapies or radiation, leading to poor prognosis. It is therefore imperative to develop chemoprevention strategies such as the identification of novel biomarkers to detect the formation of the tumor before its emergence and to use them in clinical trials aimed to counteract genome instability of patients with FA in tissues at risk. Micronuclei (MN) are chromosome fragments that are left behind in anaphase and appear in daughter cells as small additional nuclei. In this work, we analyzed MN frequencies in exfoliated buccal cells from 40 patients with FA and 24 controls. We found that MN frequency was significantly increased in the FA cohort indicating that we can detect chromosome fragility in patients with FA in basal conditions and in a tissue that is divided in vivo. Consequently, the MN assay in exfoliated buccal cells of patients with FA could be used in cancer risk studies and clinical trials aimed to identify cancer chemopreventive drugs.

KEYWORDS:

Biomarker; Buccal cells; Head and neck squamous cell carcinoma; Micronuclei

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