Tuberous Sclerosis: Current Update

Radiologic screening and surveillance in hereditary cancers

“…The distinguishing brain findings in patients with TSC include subependymal nodules, cortical and subcortical tubers ( Fig. 8 ), gray matter heterotopia, and subependymal giant cell astrocytomas (SEGAs) which occur in late childhood in 10–15% of patients [58] . A recent literature review established fetal MRI detection rates for subependymal nodules and cortical/subcortical lesions at approximately 60% and 37%, respectively [59] .…”

“…The vast majority (~95%) of renal AMLs show evidence of internal fat on CT and MRI and are correspondingly echogenic on ultrasound. Renal AMLs may spontaneously bleed or rupture, especially when large (>4 cm) or quickly growing, resulting in the second most common cause of morbidity among TSC patients [58] . Lifelong follow-up with abdominal MRI every 1–3 years is recommended, and for asymptomatic enlarging AMLs > 3 cm, mTOR inhibitors are the recommended front-line therapy [63] .…”

“…Cardiac rhabdomyoma is often the first radiologic finding in TSC, and can be detected on fetal ultrasound between 20 and 30 weeks gestation [64] ; fetal MRI is also highly sensitive, particularly with increasing gestional age, and may reveal cardiac rhabdomyoma in up to 94% of examinations [59] . Spontaneous regression is observed in up to 70% of patients by age 4, but surveillance to resolution is recommended as rare serious complications such as heart failure, valvular dysfunction, and arrhythmia can occur [58] , [64] .…”

“…Like renal angiomyolipoma, LAM is a type of perivascular epithelioid cell tumor (PEComa) and occurs in up to approximately 50% of patients, leading to dyspnea, cough, pneumothorax, and chylothorax [58] . High-resolution chest CT surveillance should be performed every 5–10 years in asymptomatic TSC patients without LAM at baseline, and every 2–3 years once detected, though more nuanced surveillance may be influenced by patient-specific factors [58] , [63] .…”

68Ga-FAPI-04 PET/MRI in a Case of Tuberous Sclerosis Complex With Extrarenal Retroperitoneal Angiomyolipoma

“…Histological and immunohistochemical analyses revealed the large mass of the left kidney was a benign hemorrhagic angiomyolipoma with peripheral fibrosis, and the other renal solid lesions and retroperitoneal mass were all angiomyolipomas characterized by the 3 tissue components including thick-walled blood vessels, spindle cell component, and mature adipose tissue 4. Angiomyolipomas typically arise within the kidney and may occasionally occur in extrarenal sites of the patients with or without tuberous sclerosis complex 1,5. Extrarenal retroperitoneal angiomyolipoma is extremely rare and primarily in the perinephric space [5][6][7][8][9][10][11].…”