Mammalian target of rapamycin inhibitors for the treatment of astrocytic hamartoma in tuberous sclerosis complex (TSC).

Autor: Vorobichik Berar O; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Tzadok M; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Zloto O; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Moroz I; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Hecht I; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Ophthalmology, Shamir Medical Center, Tzrifin, Israel., Musika AA; Department of Ophthalmology, College of Health Science, Makerere University, Kampala, Uganda., Shlomovitz O; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Fabian ID; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Vishnevskia Dai V; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. vivida65@gmail.com.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. vivida65@gmail.com.
Jazyk: angličtina
Zdroj: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2022 Sep; Vol. 260 (9), pp. 3061-3068. Date of Electronic Publication: 2022 Mar 01.
DOI: 10.1007/s00417-022-05585-x
Abstrakt: Purpose: Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Fifty percent of patients with TSC will develop retinal astrocytic hamartoma (RAH). The mammalian target of rapamycin (mTOR) inhibitors interferes with the pathological mechanisms of TSC. Treatment of RAH with mTOR inhibitors has been described in only a few isolated case reports. The purpose of this study was to assess the effect of mTOR inhibitors on RAH in a small cohort of patients.
Methods: The medical records of all consecutive patients with ocular manifestations of TSC that were treated with mTOR inhibitors at the Sheba Medical Center from January 2014 to December 2018 were retrospectively reviewed. Data collection included demographics, medical history, ocular presentation, ocular treatment, and treatment outcome. Tumor size was assessed by a masked observer, before and after treatment. Lesion measurements were made with Heidelberg SD-OCT (HRA + OCT SPECTRALIS), and fundus photos were taken with RetCam3® (Natus, USA) and analyzed by "ImageJ" software.
Results: Eleven patients with tuberous sclerosis and astrocytic hamartoma were treated with mTOR inhibitors in the study period. Of them, 6 children (11 eyes, 20 tumors) had proper imaging of tumor size before and after treatment. The analysis included these 11 eyes. All six patients had non-ocular manifestations of TSC, including dermatologic (n = 5), neurologic (n = 5), and renal (n = 3) involvement. Ocular involvement included in five eyes (45%) tumors near the optic disc and in four eyes (37%) foveal tumors. The mean follow-up duration was 2.15 ± 1.4 years (range 10 months to 4.5 years). The average tumor base reduction in the treated group was 17.8% ± 15.9. The average maximal thickness at baseline was 414 ± 174 μm (range 152-686 μm). There was a 14% ± 7.1 reduction after treatment. None of the tumors showed evidence of growth at the final follow-up.
Conclusion: The findings of this study suggest that mTOR inhibitors can reduce tumor size and that they can be considered as an optional treatment in certain conditions. This preliminary report is the first to quantitatively assess pre- and posttreatment tumor size, in young patients.
(© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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