What is PTEN hamartoma?

The PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations of the PTEN tumor suppressor gene in egg or sperm cells (germline). These disorders are characterized by multiple hamartomas that can affect various areas of the body.

What does PTEN positive mean?

Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake) or a variant that is likely pathogenic in the PTEN gene. Both of these results should be considered positive. Gene.

How rare is a PTEN mutation?

The frequency of germline PTEN mutations, including mutations in the promoter region, in Cowden syndrome have been reported to approach 85-90% [14]. Genotype/phenotype correlations have been suggested, but have not been confirmed [15–17].

What happens when PTEN is mutated?

If you have a PTEN genetic mutation, it can cause the growth of noncancerous tumors called hamartomas. Hamartomas can show up throughout the body. The mutation can also lead to the development of cancerous tumors.

Is hamartoma a tumor?

A hamartoma (from Greek hamartia, meaning “fault, defect,” and -oma, denoting a tumor or neoplasm) is a benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues found in areas of the body where growth occurs.

Is there a cure for PTEN?

Currently there are no cancer treatments approved specifically for people with a PTEN mutation, nor guidelines for treating cancer specifically for people with an inherited PTEN mutation. However, experts are conducting research studies to learn which treatments may work best for people with a PTEN mutation.

How is PTEN inherited?

The PTEN gene mutation is inherited in an autosomal dominant fashion, meaning that a person carrying a mutation in one copy of the PTEN gene has a 50 percent chance of passing this same alteration onto each of their future children.

What cancers cause PTEN?

Somatic PTEN alterations are common and well-recognized in a variety of cancers, such as endometrial cancer, prostate cancer, breast cancer, thyroid cancer and kidney cancer.

How common is PTEN gene mutation?

PTEN mutations have been identified in approximately 20 percent of patients with Proteus syndrome and in 50 percent of patients with Proteus-like syndrome, suggesting that a subset of patients with Proteus and Proteus-like syndromes may have PHTS.

Should hamartoma be removed?

Hamartomas may become large and cause breast asymmetry. Hamartomas, although benign, have the potential for malignant transformation and should be treated or monitored closely when encountered especially if microcalcifications or speculated lesions are seen within the mass.

How do you treat hamartoma?

For definitive diagnosis and treatment, surgical excision is usually done. Although, in most cases, the malignant potential of breast hamartoma is usually the same as normal breast tissue, partial or complete mastectomy is considered in large masses and sometimes for cosmetic and psychological indications.