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[edit | edit source]
Melanoma-astrocytoma syndrome is caused by mutations (changes) in the CDKN2A gene.
Epidemiology[edit | edit source]
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[edit | edit source]
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[edit | edit source]
The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome.
Genetic counseling[edit | edit source]
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[edit | edit source]
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[edit source]
Melanoma astrocytoma syndrome is a rare disease.
| Melanoma astrocytoma syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
