A study of a minority disease identifies the mechanism that explains the appearance of head and neck tumors.

A international study in which the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau and the Universitat Autònoma de Barcelona (UAB) have participated, has identified the mechanism whereby the Fanconi anemia patients develop head and neck tumors and they have been able to prove 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 in the journal ‘Nature’, show that deficiency in the natural process of cells to repair damage which produce DNA-damaging chemicals, called aldehydes, is responsible for the risk of developing squamous cell carcinoma of the head and neck.

These findings help to understand the mechanisms involved in the origin of this type of tumors and make it possible to search for new strategies aimed at trying to counteract this risk, not only in patients with Fanconi anemia, but also in the general population, where the combination of tobacco and alcohol also greatly elevates the risk of suffering from these tumors.

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Human cells are exposed to different aggressions from the environment that can cause DNA damage, so they need constant repair. In any cell, at any given time, molecular processes are underway in order to seal cracks in the double helix or correcting the genetic code to maintain the proper functioning of the organism.

What is Fanconi anemia

People who are born with Fanconi’s anemia (a rare disease characterized by genomic instability and a deficiency in DNA repair). one of these repair systems does not function, which renders their cells incapable of eliminating the lesions created by different environmental factors.

These individuals may suffer from numerous medical problems throughout their lives, such as bone marrow insufficiency, congenital malformations and also a very high risk of developing head and neck tumors. This is a type of cancer that is typically diagnosed at the 60 or 70 years of life, and in people with Fanconi’s anemia it may appear around the age of 20 or 30 years and with an incidence that may be 700 times higher than in the general population.

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

One of the most important aspects to emerge from the results of this study is that. drinking and smoking, which subject the body to aldehydes, favors 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 seen in people with Fanconi’s anemia occurs, and that is when these tumors appear.

With these results, the following are proposed new challenges for the future, how to find drugs that affect the repair mechanism of the damage caused by aldehydes, or manipulate the process so that this harmful substance does not accumulate in the organism to try to delay or prevent the appearance of these tumors. Work is already underway on two clinical trials in that direction.

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