Decryption – The treatment of blood abnormalities due to Fanconi’s disease has made enormous progress. But it remains to treat early cancers to which the patients are exposed.
Fanconi’s disease is a very heterogeneous rare genetic disease (300 to 400 cases), associating insufficient production of blood cells by bone marrow (spinal a aplasia) with congenital malformations and a strong predisposition to blood cancers and solid tumors. Until the 1990s, many patients did not reach adulthood, but thanks to the advances in research, life expectancy continues to progress.
Hematological anomalies often appear in childhood: the progressive impoverishment of bone marrow leads to a deficit in red blood cells (anemia), white blood cells (risk of infection) and platelets (coagulation disorders). “At the age of 20, almost all children need transfusions,” underlines Professor Régis Peffault de Latour, hematologist at the Saint-Louis Hospital (Paris) and coordinator of the reference center for medullary aplasia.
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“This disease is linked to an abnormality of DNA repair which can affect all organs”, he continues. Since the 1990s, 23 genes involved in Fanconi’s disease have been identified. Necessary for the proper functioning of cells, they play a role in maintaining the integrity of the genetic heritage. In general, the disease is recessive: to be reached, you must have inherited a variant transferred from a Fanconi gene from each of its parents, these being healthy carriers.
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“The transplant has made great progress”
“Patients are exposed to a high risk of head and neck cancer located in the mouth and ENT sphere (epidermoid cancers), but also gynecological cancers, liver, digestive, etc. »» They also frequently have growth delays, especially intrauterine. “Some children are born with a single kidney, with cardiac malformations, or with hand abnormalities. Coffee with coffee in milk on the skin are also very classic ”, Specifies the PR PEFFAULT DE LATOUR. In addition, the DNA repair anomaly results in very bad tolerance to chemotherapy and radiation.
In the 1980s, the development of very low dose chemotherapy opened the way for bone marrow transplants. It is due to Professor Éliane Gluckman, who, in December 2024, was the second woman in the world and the first Frenchwoman to see her career awarded by a prestigious prize awarded by the American hematology society. “The transplant has made great progress, and patients can find a life without transfusion”, Profitates Régis Peffault de Latour.
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The hope of gene therapy
But they are exposed to a high risk of cancer. “Chemotherapy or radiotherapy are very toxic. The major challenge is therefore to manage to detect tumors early to remove them by surgery as soon as possible. »» The follow -up, which involves ten specialists, is very heavy. It is organized in a national network led by the Saint-Louis coordinating center and the pediatric constitutive center of the Robert-Debré Hospital (Paris).
Fruit of twenty years of research, gene therapy arouses new hopes to stabilize the loss of blood stem cells. Published last December, the results of an international clinical trial led by a Spanish team, in which the Saint-Louis team participates, showed its efficiency and safety in Fanconi patients. New targeted therapies such as immunotherapy are, moreover, under evaluation in the treatment of cancers.