关键词: 血管平滑肌脂肪瘤, 结节性硬化症, 嵌和突变

Abstract: Objective To evaluate and explore the diagnosis, treatment, and clinical course of tuberous sclerosis complex(TSC)-associated hepatic angiomyolipoma (AML) and renal AML, emphasizing the limitations of genetic diagnostics and the significance of a multidisciplinary approach. Methods Utilizing comprehensive clinical data and multidisciplinary consultations, we thoroughly analyzed multiple genetic test results throughout the disease course. Following the confirmation of diagnosis, appropriate pharmacological treatment was administered, and its efficacy was evaluated.The patient was a 31-year-old male with a 12-year history of multiple atypical AMLs in the liver and kidneys. Multi-system manifestations included angiofibromas on the nose and perioral region, shagreen patches on the buttocks and cortical dysplasia found by head MRI. A history of dental enamel defects had been observing. Over theyears, the primary therapeutic approach has been performed as repeated surgical resections of AMLs. To further delineate the patient's genetic mutation profile and achieve a definitive diagnosis, we conducted a comprehensive genetic analysis. Results Through genetic analysis, a TSC2 c.2353C＞T(p.Gln785*) mutation with allele frequencies of 4.04% was identified in peripheral blood and 10.38% in tumor tissue, suggesting potential germline mosaicism originating during embryonic development. The patient was diagnosed with AML associated with TSC. Treatment with the mTOR inhibitor everolimus over one year resulted in a significant reduction in RAML lesions achieving partial remission. Conclusions It is imperative to consider the possibility of TSC in patients with AML. When TSC is diagnosed, meticulous scrutiny of low-frequency germline mutations is essential. mTOR inhibitors can be a treatment option for patients with TSC-AML.

Key words: angiomyolipomas, tuberous sclerosis complex, mosaic mutation