Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation.
Renal cell carcinoma (RCC) is a rare pediatric renal cancer. Recent molecular genetic studies discovered a tumor-specific mutation involving translocation of a transcription factor TFE3 in a subset of pediatric RCC with distinct histopathology. We reported a case of a 2-year-old boy with RCC associated with TFE3 translocation resulting in a PRCC-TFE3 fusion gene. Interestingly, the case carried a maternally inherited mitochondrial DNA (mtDNA) alteration at the position which is usually found in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) syndrome (A3243G). Although evidence of somatic alterations in mtDNA existed in various cancers, association between inherited mtDNA mutation and pediatric renal cancer has not been reported. Our case provided the first evidence of a co-occurrence between a germ line mutation in mtDNA and the somatic mutation of pediatric RCC. With this information, we speculated a role of mitochondria mutation in the pathogenesis of this cancer.
Sangkhathat
Surasak
S
Department of Pediatric Surgery, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871 Japan.
Kusafuka
Takeshi
T
Yoneda
Akihiro
A
Kuroda
Seika
S
Tanaka
Yukichi
Y
Tanaka
Mio
M
Sakai
Norio
N
Fukuzawa
Masahiro
M
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D018797:Cell Cycle Proteins / Q000235:genetics; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D017241:MELAS Syndrome / Q000235:genetics; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics; D009367:Neoplasm Staging; D009392:Nephrectomy; D017354:Point Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D018797:Cell Cycle Proteins; D004272:DNA, Mitochondrial; D009363:Neoplasm Proteins; C415042:PRCC protein, human; C069203:TFE3 protein, human