Two different types of infantile renal cell carcinomas associated with tuberous sclerosis

An understanding of the role of inherited cancer predisposition syndromes in pediatric tumor diagnoses continues to develop as more information is learned through the application of genomic technology. Identifying patients and their relatives at an increased risk for developing cancer is an important step in the care of this patient population. The purpose of this review is to highlight various tumor types that arise in the pediatric population and the cancer predisposition syndromes associated with those tumors. The review serves as a guide for recognizing genes and conditions to consider when a pediatric cancer referral presents to the genetics clinic.

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“…Pediatric RCC has also been reported more rarely in TSC (Gil et al 2013;Kubo et al 2011) and SDHx syndromes ).…”

Section: Renal Cell Carcinoma (Rcc)mentioning

confidence: 99%

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

Scollon

Anglin

Thomas

et al. 2017

Journal of Genetic Counseling

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“…A small cohort study of outlier cases with exceptional response to mTOR inhibitors presented the first data linking genomic tumor analysis with long-term response to mTOR inhibitor therapy in advanced RCC 24 . A total of 5 patients, were successfully treated with Temsirolimus or Everolimus for a median 28 months.…”

Section: Everolimusmentioning

confidence: 99%

Is mTOR Inhibitor Good Enough for Treatment All Tumors in TSC Patients?

et al. 2016

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Tuberous sclerosis complex (TSC) is an autosomal dominant and multi-system genetic disorder in humans. TSC affects around 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic groups, and in both genders. TSC is caused by defects or mutations in two genes, TSC1 and TSC2. Loss of TSC1/TSC2 leads to dysregulation of mTOR, resulting in aberrant cell differentiation and development, and abnormal enlargement of cells. TSC is characterized by the development of benign and/or malignant tumors in several organs including renal/liver angiomyolipomas, facial angiofibroma, lymphangiomyomatosis, cardiac rhabdomyomas, retinal astrocytic, renal cell carcinoma, and brain subependymal giant cell astrocytomas (SEGA). In addition, TSC disease causes disabling neurologic disorders, including epilepsy, mental retardation and autism. Particularly problematic are the development of renal angiomyolipomas, which tend to be larger, bilateral, multifocal and present at a younger age compared with sporadic forms. In addition, SEGA block the flow of fluid within the brain, causing a buildup of fluid and pressure that leads to blurred vision and seizures. In the current review, we describe the pathology of TSC disease in key organs and summarize the use of mTOR inhibitors to treat tumors in TSC patients.

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“…The estimated incidence of RCC varies between 2.2% and 5%,5 8 13 similar to that of the general population,2 with a higher frequency in women 14 15. However, the median age of diagnosis of RCC in TSC is reported as 28 years,15 25 years earlier than the average age at diagnosis in the general population,11 with sporadic case reports among paediatric patients 14–21. Usually thought to be a complication diagnosed in adulthood, it is important to remember that although scarce, RCC may appear in a paediatric setting.…”

Section: Discussionmentioning

confidence: 92%

Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex

et al. 2013

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Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder characterised by seizures, mental retardation and hamartoma formation in multiple organs, mainly in the brain, skin, kidney, liver, lung and heart. Renal manifestations occur in about 60–80% of all patients with TSC and their rate increases with age. We report the case of a 17-year-old boy with tuberous sclerosis who presented with abdominal pain associated with kidney failure. Investigation revealed bilateral renal lesions, suggesting angiomyolipomas. On further work-up, malignancy was suspected and the patient underwent bilateral partial nephrectomy with histological diagnosis of bilateral renal cell carcinoma. This is a rare complication of TSC, particularly in a paediatric setting. Adequate surveillance of kidney disorders in patients with TSC is warranted, to guarantee an early diagnosis and treatment.

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Two different types of infantile renal cell carcinomas associated with tuberous sclerosis

Cited by 18 publications

References 11 publications

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

Is mTOR Inhibitor Good Enough for Treatment All Tumors in TSC Patients?

Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex

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