An oncologist of the Provincial research in United States the treatment of a rare tumor detected in several members of a family of Castellón.

Castellón, 2013 January- La doctora Isabel Tena, head of the unit of genetic Council of the Provincial Hospital consortium of Castellón, investigates a U.S. Center the prevention and treatment of a rare tumor that has been detected in several members of a family from the province of Castellón.

The type of cancer that the doctor had been identified within a familial genetic mutation is the syndrome hereditary Paraganglioma-pheochromocytoma ”, considered rare by its low incidence and difficult diagnosis.

In fact, in medical terms is known as the great Simulator ”, said Tena, who added that this nickname is due to that their presence is always detected near ganglia of sympathetic or parasympathetic to promoting an overacting of the same, which means that the body emits a most abundant hormone levels and that causes you to the numerous individual and different patologiso, in a few cases are associated with cancer.

The patient may have psychological, heart problems or other symptoms that are strangely associated with cancer. I.e. simulates other diseases, so that, when actually the tumor is detected it is, too often, too late.

Isabel tena and Carlos Ferrer.

The specialist has managed to identify a family presenting the genetic mutation causing this syndrome, scientifically known as large deletion in the gene SDHB ”. The discovery is a great find for research and for further treatment on the descendants.

The detection of this family was due to the presence of two close cases at the time but, apparently had nothing to do with each other. Thanks to the research concern of Dr. Tena, discovered a common ancestry tied in a seventh-generation ancestors.

Thanks to this case, currently it is trying to identify and detect all the family tree of those ancestors who conveyed the genetic mutation to all his descendants and now, if they knew it early enough, could prevent your disease or detect it so early that its impact was minimal.

The director of the Cancer Institute, Carlos Ferrer, considered that this finding demonstrates the good work carried out by the unit of genetic counseling of the Provincial Hospital, confirming the value of the contribution of the studies of genetic counseling in the prevention of these diseases ”.

These studies – added Dr. Ferrer – allow you to pre-empt the development of cancer, resulting in a lower cost treatments and less morbidity for patients ”.

Support of the Foundation

The foundation of the Provincial Hospital, responsible for the development of medical research of the Consortium, funded the stay of the Dr. Tena in the National Institute of health of Betheseda, in the State of Maryland.

In this Institute he shared experience with Dr. Karel Pacak, internationally known specialist in the study of the genetic transmission of this tumor and that has been the promoter of the establishment of the two unique genetic counselling of this rare disease centers, located in Holland and Germany.

The stay of the Dr. Tena in United States will offer to patients with this type of genetic abnormality specific treatment, as well as to address its impact from the world’s largest Oncology database.