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

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.

journal_name

Cancer Lett

journal_title

Cancer letters

authors

Ramírez MJ,Minguillón J,Loveless S,Lake K,Carrasco E,Stjepanovic N,Balmaña J,Català A,Mehta PA,Surrallés J

doi

10.1016/j.canlet.2019.12.008

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

1-7

eissn

0304-3835

issn

1872-7980

pii

S0304-3835(19)30614-7

journal_volume

472

pub_type

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