A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in

Authors

Takefumi Komiya MD, Parkview HealthFollow
Gideon M Blumenthal
Roopa DeChowdhuryFollow
Susan Fioravanti
Marc S Ballas
John Morris
Thomas J Hornyak
Stephen Wank
Stephen M Hewitt
Betsy Morrow
Regan M Memmott
Arun Rajan
Phillip A Dennis

Abstract

LESSONS LEARNED: This is the first human interventional study in patients with Cowden syndrome that is driven by inactivation of germline

BACKGROUND: Cowden syndrome is characterized by inactivating germline

METHODS: Adult subjects with germline

RESULTS: A total of 18 patients and 16 families were enrolled.

CONCLUSION: A 56-day course of sirolimus was well tolerated in subjects with Cowden syndrome and was associated with some evidence of improvement in symptoms, skin and GI lesions, cerebellar function, and decreased mTOR signaling.

Document Type

Article

Publication Date

12-1-2019

Publication Title

The oncologist

First Page

1510

Last Page

1510

Recommended Citation

Komiya, Takefumi MD; Blumenthal, Gideon M; DeChowdhury, Roopa; Fioravanti, Susan; Ballas, Marc S; Morris, John; Hornyak, Thomas J; Wank, Stephen; Hewitt, Stephen M; Morrow, Betsy; Memmott, Regan M; Rajan, Arun; and Dennis, Phillip A, "A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in" (2019). PCI Publications and Projects. 37.
https://researchrepository.parkviewhealth.org/oncol/37