Tuberous sclerosis complex misdiagnosed as multiple metastases in a cervical cancer patient: case report and literature review

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organs and is caused by inactive mutations in the TSC1 or TSC2 genes. The main symptoms of TSC are neurocutaneous syndrome and benign hamartoma formation. Notably, malignancy is not an indication of TSC. In this article, we present the case of a 48-year-old female with cervical cancer (CC) combined with TSC, who was misdiagnosed with multiple metastases. Toe masses, pelvic nodules, and multiple osteogenic lesions were initially observed. Multi-site puncture biopsies and a toe amputation were performed; the pathology results did not indicate malignancy. Subsequently, hypomelanotic macules on the back, subependymal nodules (SENs), ungual fibromas, multiple renal cysts, and sclerotic-bone-lesions (SBLs) of the skull, and vertebrae were observed, leading to a diagnosis of TSC. Given that TSC is a benign disease and has not yet caused any organ disfunction, no special treatment was provided to this patient. After a follow-up period of almost 65 months, the patient's quality of life remained good without therapy. Oncologists should pay attention to benign diseases in the face of multiple lesions to reduce misdiagnosis and overtreatment. In addition, TSC may interact with CC through molecular mechanisms, such as the mammalian target of rapamycin (mTOR) pathway.