Can PHIP gene predict prognosis?

This study investigated the link between the number of copies of a gene called the pleckstrin homology domain-interacting protein (PHIP), melanoma metastasis (spread of cancer cells to distant organs and tissues of the body) and ulceration (breaking of the skin over the melanoma with loss of surface tissue).

Melanoma is a very unpredictable cancer. The thickness of the tumor is used as an indicator of how the cancer will need to be treated and the prognosis of the patient. One other factor known to influence patient outcomes is the presence of ulceration, which is known to decrease the patients’ prognosis. In several types of cancer, the presence of specific genes is used to alert patients to a possible increased risk in developing cancer, or the likelihood of their cancer spreading from its original location. However, for melanoma, there are currently no prognostic biomarkers used in its diagnosis or treatment.

A recent finding showed that a protein called pleckstrin homology domain-interacting protein (PHIP) was present in higher levels in the blood of patients with metastatic cancer compared to those with primary melanomas. This study investigated the presence of PHIP and whether there was an association between the number of PHIP gene copies and the development of ulceration and prognosis in patients with melanoma. 

This study included 238 tumor samples from melanoma patients. Tests were carried out by a person who did not know the outcome of the patient the tumor came from. This method is known as blinded analysis. 

Results showed that a high PHIP copy number was linked to an increased risk of the cancer spreading. 45.4% of patients with a high copy number had distant metastasis compared to 25.5% with a low copy number. Further analysis showed that 45.5% of patients with a high copy number had ulceration compared to 28.8% of patients with a low copy number. A large amount of blood vessels in the tumors was also associated with an increased risk of ulceration.

Overall, this study showed that identification of a high PHIP copy number can be associated with an increased risk of melanoma metastasis, ulceration and decreased patient prognosis. This biomarker can help by choosing a more aggressive treatment for these patients.

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