Two different types of infantile renal cell carcinomas associated with tuberous sclerosis.
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.
Department of Pediatric Surgery, Yamanashi Prefectural Central Hospital, Kofu 400-0027, Japan. m-kubo@kusatsu-gh.or.jp
Masako
M
Kubo
Kimie
K
Iwashita
Noboru
N
Oyachi
Toshio
T
Oyama
Toshiyuki
T
Yamamoto
D018322:Angiofibroma / Q000235:genetics; D018207:Angiomyolipoma / Q000235:genetics; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001483:Base Sequence; D002292:Carcinoma, Renal Cell / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery; D003131:Combined Modality Therapy; D003609:Dactinomycin / Q000008:administration & dosage; D003951:Diagnostic Errors; D005153:Facial Neoplasms / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery; D008113:Liver Neoplasms / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D016609:Neoplasms, Second Primary / Q000235:genetics; D009392:Nephrectomy; D007690:Polycystic Kidney Diseases / Q000175:diagnosis; D003294:Seizures, Febrile / Q000209:etiology; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics; D014750:Vincristine / Q000008:administration & dosage; D009396:Wilms Tumor / Q000175:diagnosis
C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D003609:Dactinomycin; D014750:Vincristine