Translocation renal cell carcinoma: lack of negative impact due to lymph node spread.
BACKGROUND
Pediatric renal cell carcinoma (RCC) is clinically distinct from adult RCC. Characterization of the unique biological and clinical features of pediatric RCC are required.


METHODS
A retrospective review and biological analysis of all RCC cases presenting to Cincinnati Children's Hospital Medical Center (CCHMC) in the last 30 years was undertaken. Cases were classified according to the recent World Heath Organization morphologic classification and according to TFE3/TFEB status. A literature review of pediatric TFE+ cases was performed.


RESULTS
Eleven cases of RCC with clinical data were identified in our institutional review as follows: 6 clear cell, 2 papillary, 2 translocation, and 1 sarcomatoid. Upon reanalysis, 1 papillary and 1 sarcomatoid were confirmed, 1 case was "unclassified", and 8 of 11 (72.7%) had features consistent with translocation morphology. Of these 8, all demonstrated immunoreactivity for TFE3 (7 patients) or TFEB (1 patient) protein. In 3 cases, cytogenetics was available, each demonstrating confirmatory MiTF/TFE translocations. Seven of 8 TFE+ RCC patients presented with TNM Stage III/IV disease. Literature analysis confirmed a significant increase in advanced stage presentation in pediatric TFE+ RCC compared with TFE- RCC. Fourteen of fifteen (93.3%) patients with TFE+ stage III/IV RCC due to lymph node spread (N+ M(0)) remain disease free with a median and mean follow-up of 4.4 and 6.3 years, respectively (range, 0.3-15.5).


CONCLUSIONS
Translocation morphology RCC is the predominant form of pediatric RCC, associated with an advanced stage at presentation. Patients with TFE+ N+ M(0) RCC maintain a favorable short-term prognosis after surgery alone. Young RCC patients should be screened for translocation morphology, and the screening information should be considered when debating adjuvant therapy.
Geller
James I
JI
Department of Hematology Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio 45229-3039, USA. james.geller@cchmc.org
Argani
Pedram
P
Adeniran
Adebowale
A
Hampton
Edith
E
De Marzo
Angelo
A
Hicks
Jessica
J
Collins
Margaret H
MH
D018262:Adenocarcinoma, Clear Cell / Q000188:drug therapy / Q000235:genetics / Q000556:secondary; D000293:Adolescent; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002291:Carcinoma, Papillary / Q000188:drug therapy / Q000235:genetics / Q000556:secondary; D002292:Carcinoma, Renal Cell / Q000188:drug therapy / Q000235:genetics* / Q000556:secondary; D002648:Child; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007124:Immunoenzyme Techniques; D007680:Kidney Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D016350:Leucine Zippers; D008198:Lymph Nodes / Q000473:pathology*; D008207:Lymphatic Metastasis; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D011379:Prognosis; D012189:Retrospective Studies; D015996:Survival Rate; D014178:Translocation, Genetic
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D009363:Neoplasm Proteins; C069203:TFE3 protein, human; C064972:TFEB protein, human