Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus - 15/10/15
Abstract |
Background |
Oral mechanistic target of rapamycin inhibitors have been shown to reduce visceral tumor volume in patients with tuberous sclerosis complex (TSC).
Objective |
We sought to evaluate the cutaneous response to oral sirolimus in patients with TSC and an indication for systemic treatment, including long-term effects.
Methods |
A retrospective analysis of 14 adult patients with TSC prescribed sirolimus to treat lymphangioleiomyomatosis was performed. Serial photographs of angiofibromas, shagreen patches, and ungual fibromas taken before, during, and after the treatment period were blinded, then assessed using the Physician Global Assessment of Clinical Condition (PGA). Microscopic and molecular studies were performed on skin tumors harvested before and during treatment.
Results |
Sirolimus significantly improved angiofibromas (median treatment duration 12 months; median PGA score 4.5 [range 1.5-5]; Wilcoxon signed rank test, P = .018) and shagreen patches (median treatment duration 10 months; median PGA score 4.5 [range 3.5-5]; Wilcoxon signed rank test, P = .039), whereas ungual fibromas improved in some patients (median treatment duration 6.5 months; median PGA score 4.66 [range 2.75-5]; Wilcoxon signed rank test, P = .109). Clinical, immunohistochemical, or molecular evidence of resistance was not observed (range 5-64 months of treatment).
Limitations |
This was a retrospective analysis limited to adult women with lymphangioleiomyomatosis.
Conclusion |
Oral sirolimus is an effective long-term therapy for TSC skin tumors, particularly angiofibromas, in patients for whom systemic treatment is indicated.
Le texte complet de cet article est disponible en PDF.Key words : angiofibromas, lymphangioleiomyomatosis, mechanistic target of rapamycin inhibitor, shagreen patch, sirolimus, tuberous sclerosis complex, ungual fibroma
Abbreviations used : LAM, mTOR, PGA, pS6, TSC
Plan
| Dr Moss was supported by the Intramural Research Program, National Institutes of Health (NIH), National Heart, Lung, and Blood Institute. Dr Darling was supported by NIH R01 AR062080. This research was made possible through the NIH Medical Research Scholars Program, a public-private partnership supported jointly by the NIH and generous contributions to the Foundation for the NIH from Pfizer, the Doris Duke Charitable Foundation, the Alexandria Real Estate Equities Inc, Mr and Mrs Joel S. Marcus, the Howard Hughes Medical Institute, and other private donors. This research was also made possible through a Doris Duke Charitable Foundation Clinical Research Mentorship grant (#2014088). |
|
| Conflicts of interest: None declared. |
Vol 73 - N° 5
P. 802-808 - novembre 2015 Retour au numéro
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