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

Abstract

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.

Diagnosis of tuberous sclerosis complex in adulthood: A case report

“…Identification of clinical manifestations and genetic testing are the main diagnostic tools for TSC. 1,3 Other useful diagnostic tools include magnetic resonance imaging (MRI), electrocardiogram (ECG), echocardiogram (Echo), pulmonary function tests, and computed tomography (CT). In addition to their diagnostic values, MRI and CT have contributed to the reduction in mortality and morbidity rates because of their use as follow-up tools for patients with TSC.…”

“…Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder 1,2 . It is mainly characterized by benign hamartomas that mostly occurs in the brain, skin, kidneys, lungs, and heart 3 .…”

“…It is mainly characterized by benign hamartomas that mostly occurs in the brain, skin, kidneys, lungs, and heart 3 . TSC affects approximately two million people worldwide with an incidence rate of 1:6,000–1:10,000 among live births regardless of gender 1,4 . It was first described in 1862 by von Recklinghausen in a pediatric patient who presented with cardiac lesions (fibroids) and areas of cerebral sclerosis 3,5 …”

“…3 TSC affects approximately two million people worldwide with an incidence rate of 1:6,000-1:10,000 among live births regardless of gender. 1,4 It was first described in 1862 by von Recklinghausen in a pediatric patient who presented with cardiac lesions (fibroids) and areas of cerebral sclerosis. 3,5 Tuberous sclerosis complex is caused by mutations in the genes TSC1 and TSC2, which encodes hamartin (chromosome 9q34.…”

“…Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. 1,2 It is mainly characterized by benign hamartomas that mostly occurs in the brain, skin, kidneys, lungs, and heart. 3 TSC affects approximately two million people worldwide with an incidence rate of 1:6,000-1:10,000 among live births regardless of gender.…”