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Association details:
Evidence:
Evidence Level:
Sensitive: C4 – Case Studies
New
Title:

Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation–associated metastatic renal-cell carcinoma

Excerpt:
Tissue from the renal mass biopsy, however, was sent for genetic testing and that confirmed two TSC2 gene mutations (H1620R, Y1650C)...the patient was started on personalized off-label therapy with an mTOR inhibitor, everolimus, at a dose of 10 mg oral on a daily basis in the frontline setting....Repeat CT scans approximately every 3 mo have shown excellent response in most disease sites...
DOI:
10.1101/mcs.a002220