Bilateral Renal Angiomyolipomas and Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex: a Case Report and Review of The Literature
| Autor: | Goce Spasovski, O. Stankov, V Filipce, M Lazareska, I Barbov, I Rambabova Bushljetik |
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| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty Angiomyolipoma 030232 urology & nephrology Brain tumor Case Report QH426-470 Everolimus (EVE) 03 medical and health sciences Tuberous sclerosis 0302 clinical medicine Genetics medicine Genetics (clinical) Angiomyolipoma (AML) Kidney Everolimus Tuberous sclerosis complex (TSC) Subependymal giant cell astrocytoma business.industry medicine.disease Rash medicine.anatomical_structure Subependymal giant cell astrocytoma (SEGA) TSC1 medicine.symptom business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Balkan Journal of Medical Genetics : BJMG Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 93-98 (2021) |
| ISSN: | 1311-0160 |
| Popis: | Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the TSC1 or TSC2 gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and results in development of benign tumors in different body systems such as brain, skin, lungs and kidney. The mTOR inhibitors are presently the main treatment option for patients with TSC. We here report a 21-year female patient with large bilateral angiomyolipoma (AML) in both kidneys with longest diameter more than 12.3 cm and subependymal giant cell astrocytoma (SEGA). Treatment with everolimus (EVE) was initiated at a dose of 10.0 mg/day and continued during the following 3 years. Magnetic resonance imaging (MRI) was performed before treatment with everolimus was initiated, and consequently at 12 and 36 months for follow-up of the efficacy of the treatment. After 3 years, the total size of largest AML decreased by ~24.0% in the longest diameter. A reduction of the total size of SEGA was also observed. The most common adverse effect of treatment was stomatitis grades 3 to 4 and one febrile episode associated with skin rash that required a reduced dose of EVE. In conclusion, the everolimus treatment improved even such a large renal AML and the effect persisted during the long-term administration with a small number of adverse effects. A positive effect was observed on the brain tumor as well. |
| Databáze: | OpenAIRE |
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