Diagnosis and treatment of tuberous sclerosis complex with TSC2 mosaic mutation and multiple angiomyolipomas:a case report
10.16352/j.issn.1001-6325.2024.10.1357
- VernacularTitle:1例伴TSC2嵌合突变的结节性硬化症并多发血管平滑肌脂肪瘤的诊断及治疗
- Author:
Hui GE
1
;
Zhaohua CAI
;
Ningning LI
Author Information
1. 中国医学科学院 北京协和医学院 北京协和医院 肿瘤内科,北京 100730
- Keywords:
angiomyolipomas;
tuberous sclerosis complex;
mosaic mutation
- From:
Basic & Clinical Medicine
2024;44(10):1357-1362
- CountryChina
- Language:Chinese
-
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 poten-tial 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 inhibi-tors can be a treatment option for patients with TSC-AML.
