PMID- 35230473 OWN - NLM STAT- MEDLINE DCOM- 20230403 LR - 20230403 IS - 1435-702X (Electronic) IS - 0721-832X (Linking) VI - 260 IP - 9 DP - 2022 Sep TI - Mammalian target of rapamycin inhibitors for the treatment of astrocytic hamartoma in tuberous sclerosis complex (TSC). PG - 3061-3068 LID - 10.1007/s00417-022-05585-x [doi] AB - 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(R) (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 mum (range 152-686 mum). 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. CI - (c) 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. FAU - Vorobichik Berar, Ofri AU - Vorobichik Berar O AD - Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. AD - Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. FAU - Tzadok, Michal AU - Tzadok M AD - Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. AD - Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. FAU - Zloto, Ofira AU - Zloto O AD - Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. AD - Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. FAU - Moroz, Iris AU - Moroz I AD - Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. AD - Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. FAU - Hecht, Idan AU - Hecht I AD - Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. AD - Department of Ophthalmology, Shamir Medical Center, Tzrifin, Israel. FAU - Musika, Anne Ampaire AU - Musika AA AD - Department of Ophthalmology, College of Health Science, Makerere University, Kampala, Uganda. FAU - Shlomovitz, Omer AU - Shlomovitz O AD - Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. AD - Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. FAU - Fabian, Ido-Didi AU - Fabian ID AD - Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. AD - Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. FAU - Vishnevskia Dai, Vicktoria AU - Vishnevskia Dai V AUID- ORCID: 0000-0001-9203-8097 AD - Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. vivida65@gmail.com. AD - Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. vivida65@gmail.com. LA - eng PT - Journal Article DEP - 20220301 PL - Germany TA - Graefes Arch Clin Exp Ophthalmol JT - Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie JID - 8205248 RN - W36ZG6FT64 (Sirolimus) RN - EC 2.7.11.1 (TOR Serine-Threonine Kinases) SB - IM MH - Child MH - Humans MH - *Hamartoma MH - Retrospective Studies MH - Sirolimus MH - TOR Serine-Threonine Kinases MH - *Tuberous Sclerosis OTO - NOTNLM OT - Retinal astrocytic hamartoma OT - Tuberous sclerosis complex OT - mTOR inhibitors EDAT- 2022/03/02 06:00 MHDA- 2022/08/31 06:00 CRDT- 2022/03/01 12:16 PHST- 2021/08/14 00:00 [received] PHST- 2022/02/03 00:00 [accepted] PHST- 2022/01/29 00:00 [revised] PHST- 2022/03/02 06:00 [pubmed] PHST- 2022/08/31 06:00 [medline] PHST- 2022/03/01 12:16 [entrez] AID - 10.1007/s00417-022-05585-x [pii] AID - 10.1007/s00417-022-05585-x [doi] PST - ppublish SO - Graefes Arch Clin Exp Ophthalmol. 2022 Sep;260(9):3061-3068. doi: 10.1007/s00417-022-05585-x. Epub 2022 Mar 1.