Melanoma astrocytoma syndrome

Other Names: Melanoma and neural system tumor syndrome An extremely rare, inherited disorder in which affected people have an increased risk of developing melanoma and nervous system tumors, especially astrocytoma (a type of brain tumor). The tumors tend to develop at an early age, and one or both types of tumors may occur in the same person. Also called melanoma and neural system tumor syndrome.

Cause

Melanoma-astrocytoma syndrome is caused by mutations (changes) in the CDKN2A gene.

Epidemiology

Prevalence and incidence rates are not known. Fewer than 20 affected families have been reported to date. Cases have been reported from France, Italy, the UK and the USA.

Clinical description

In reported families, affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma (see these terms). In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer.

Etiology

The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome.

Genetic counseling

Male-to-male transmission was reported in one family but inheritance patterns are not clearly characterized. The increased risk appears to be found in both first- and second-degree relatives.

Treatment

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.

• Aldesleukin (Brand name: Proleukin)Treatment of adults with metastatic melanoma.

NIH genetic and rare disease info

• NIH info on Melanoma astrocytoma syndrome

Melanoma astrocytoma syndrome is a rare disease.