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Is Everolimus Used In The Treatment Of Cowden's Syndrome?

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Posted on Thu, 19 Dec 2013
Question: Yes, what do you know about Cowden's syndrome? There is a lot of noise about Everolimus, via Novartis and it's use as a drug for cancer treatment. Since the primary function is Mtor inhibiting it would seem a good solution for CS treatment. Thoughts?
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Answered by Dr. Sudarshan (1 hour later)
Brief Answer: Possibility of use in cowdens syndrome Detailed Answer: Hi, Thanks for writing in. Cowden disease, also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results most commonly (80%) from a mutation in the PTEN gene. This condition cause hamartomatous neoplasms of the skin and mucosa, GI tract, bones, CNS, eyes, and genitourinary tract. As Everolimus has worked in cases of tuberous sclerosis which is a hamartomatous condition there is also possibility that it will work in Cowden's syndrome also. Although the genetic mutation are different (PTEN in cowden and TSC in tuberous sclerosis) there is a good possibility that everolimus can work in this condition also. However there have been no proper trials regarding everolimus in cowdens syndrome and it is an area of potential research. Hope this answers your query. Let me know if you need clarifications. Regards DrSudarshan. MD Dermatology
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Above answer was peer-reviewed by : Dr. Prasad
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Dr. Sudarshan

Dermatologist

Practicing since :2005

Answered : 1385 Questions

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Is Everolimus Used In The Treatment Of Cowden's Syndrome?

Brief Answer: Possibility of use in cowdens syndrome Detailed Answer: Hi, Thanks for writing in. Cowden disease, also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results most commonly (80%) from a mutation in the PTEN gene. This condition cause hamartomatous neoplasms of the skin and mucosa, GI tract, bones, CNS, eyes, and genitourinary tract. As Everolimus has worked in cases of tuberous sclerosis which is a hamartomatous condition there is also possibility that it will work in Cowden's syndrome also. Although the genetic mutation are different (PTEN in cowden and TSC in tuberous sclerosis) there is a good possibility that everolimus can work in this condition also. However there have been no proper trials regarding everolimus in cowdens syndrome and it is an area of potential research. Hope this answers your query. Let me know if you need clarifications. Regards DrSudarshan. MD Dermatology