Signs of Hope in Trial Testing Treatment for PTEN Hamartoma Tumor Syndrome

According to a story from Vector, a patient in an early experimental trial for a potential treatment for PTEN hamartoma tumor syndrome appears to be benefiting from the therapy. Ten year old Preston Hall is the patient in question, and it was several years before doctors were able to diagnose the cause of a variety of symptoms and health problems that appeared early in his life.

About PTEN Hamartoma Tumor Syndrome

PTEN hamartoma tumor syndrome is not actually a single disease, but in fact encompasses a spectrum of genetic disorders which are linked to mutations of the PTEN gene. These mutations are usually inherited from a patient’s parents. Some of the disorders that fall into this spectrum include Cowden syndrome and Proteus syndrome. Symptoms can include hamartoma tumors in the skin, digestive tract, and blood vessels, difficulty breathing, autism, macrocephaly (large head), and intestinal polyps. Patients also have an increased risk of getting certain types of cancer, such as breast and thyroid cancer. There is no real cure, and treatment is primarily focused on alleviating symptoms. There are currently no disease modifying treatment for PTEN hamartoma tumor syndrome. To learn more about PTEN hamartoma tumor syndrome, click here.

A Difficult Diagnosis

Despite displaying many abnormalities almost since his birth, Preston was not officially diagnosed with PTEN hamartoma tumor syndrome until he was six years old. His mother Jennifer Hall says that he had received nearly 20 different diagnoses. The mutation was discovered after Preston had whole exome sequencing.

An Opportunity For Treatment

Preston was recruited for a clinical trial testing the drug everolimus, which has gained a reputation as a treatment for certain cancers and to prevent organ transplant rejection. After beginning the trial, it took only a month or so before Preston’s family began to notice that he was acting differently.

His speaking ability was the first thing that seemed to improve, and his motor coordination was also getting better. Six weeks into treatment, Preston was able to hit a baseball with a bat, another indication that his coordination was improving. Three months in, Preston’s life had changed dramatically; he began to show an interest in basketball and before long he was able to socialize with his peers more readily.

The last time Preston took the drug was in February. Since then, his improvements have stayed with him. Clearly, everolimus could be the answer for treating PTEN hamartoma tumor syndrome.


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