Rare disease study identifies mechanism behind development of head and neck tumors

  • Patients with Fanconi anemia show genomic instability and DNA repair deficiency

A international study in which the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau and the Autonomous University of Barcelona (UAB) participated, identified the mechanism for which the Fanconi anemia patients to develop Head and neck tumors and they were able to verify that it is the same mechanism that explains why smoking and drinking increase the risk of this type of cancer in the general population. The results, published by the magazine ‘Nature’, show that the lack of cells’ natural process to repair damage that produce chemicals that damage DNA, called aldehydes, is responsible for the risk of developing squamous cell carcinoma of the head and neck.

These results make it possible to understand the mechanisms involved in the origin of this type of tumor and allow you to search new strategies aimed at trying to counteract this risk, not only in patients with Fanconi anemia, but also in general population, where the combination of tobacco and alcohol also strongly increases the risk of suffering from these tumors.

Human cells are exposed to different environmental aggressions they can cause DNA damage, so they need constant repair. In any cell, at any time, molecular processes occur to seal the cracks double helix or correct the genetic code to keep the body functioning properly.

What is Fanconi anemia

People born with Fanconi anemia (a weird disease characterized by genomic instability and DNA repair deficiency) one of these repair systems does not work for them, which renders its cells incapable of eliminating the lesions created by different environmental factors.

These people may suffer many medical problems throughout his life, such as bone marrow failure, congenital malformations and also a very high risk of developing head and neck tumors. It is a type of cancer usually diagnosed in 60 or 70 years of life, and in people with Fanconi anemia, it may appear around the 20 or 30 years old and with an incidence that can be 700 times higher than in the general population.

In this study, the researchers analyzed the genetic signatures tumors from fifty patients with Fanconi anemia and compared them with data from hundreds of sporadic tumors.

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One of the most important aspects that emerges from the results of this study is that drink and smoke, which subject the body to aldehydes, promotes the appearance of tumors by mechanisms similar to those involved in Fanconi anemia. When the body is exposed to more damage than the cells can repair, a process similar to that experienced by people with Fanconi anemia occurs, and this is when these tumors appear.

Based on these results, it is proposed new challenges for the future how to find drugs that affect the aldehyde damage repair mechanism, or manipulate the process so that this harmful substance does not build up in the body to try to delay or prevent the onset of these tumours. Already working on two clinical trials in this direction.

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