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

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

The type of cancer that Dr. Tena has identified within a family 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 his presence is always detected along with ganglia sympathetic or parasympathetic promoting an overacting for them, which means that the body emits a most abundant hormone level and causing you to the numerous individual and diverse 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. simulate 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 that presents the genetic mutation that generates this syndrome, scientifically known as large deletion in the SDHB gene ”. The discovery is a great find for research and for further treatment in the descendants.

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

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

The director of the Oncology Institute, Carlos Ferrer, considered that this finding demonstrates the good work carried out by the unit of genetic counseling of the Provincial Hospital, corroborating 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 anticipate 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, financed the stay of Dr. Tena in the National Institute of health of Betheseda, in the State of Maryland.

In this Institute share 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 creation of two unique centres for genetic counselling of this rare disease, located in Holland and Germany.

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