Abstract
Renal cell carcinoma (RCC) associated with tuberous sclerosis (TSC) has been reported in adult patients; however, this association is rare in children. We have encountered 2 different types of RCCs in infants who developed TSC later in childhood. The pathologic diagnoses were papillary RCC in one infant and a clear cell-type RCC in the other. Gene analysis showed that both the patients had a mutation in TSC2 gene on chromosome 16.
Copyright © 2011 Elsevier Inc. All rights reserved.
MeSH terms
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Angiofibroma / genetics
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Angiomyolipoma / genetics
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Base Sequence
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Carcinoma, Renal Cell / classification
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Carcinoma, Renal Cell / diagnosis*
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Carcinoma, Renal Cell / drug therapy
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Carcinoma, Renal Cell / genetics
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Carcinoma, Renal Cell / pathology
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Carcinoma, Renal Cell / surgery
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Combined Modality Therapy
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Dactinomycin / administration & dosage
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Diagnostic Errors*
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Facial Neoplasms / genetics
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Female
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Genetic Predisposition to Disease
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Humans
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Infant
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Intellectual Disability / etiology
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Kidney Neoplasms / diagnosis*
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Kidney Neoplasms / drug therapy
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Kidney Neoplasms / genetics
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Kidney Neoplasms / pathology
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Kidney Neoplasms / surgery
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Liver Neoplasms / genetics
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Male
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Molecular Sequence Data
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Neoplasms, Second Primary / genetics
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Nephrectomy
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Polycystic Kidney Diseases / diagnosis
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Seizures, Febrile / etiology
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Tuberous Sclerosis / complications
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Tuberous Sclerosis / diagnosis*
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Tuberous Sclerosis / genetics
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins / genetics
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Vincristine / administration & dosage
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Wilms Tumor / diagnosis
Substances
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TSC2 protein, human
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins
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Dactinomycin
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Vincristine