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Pediatric Renal Cell Carcinoma
Clinical, Pathologic, and Molecular Abnormalities Associated With the Members of the MiT Transcription Factor Family

Raveena Ramphal MD, Alberto Pappo MD, Maria Zielenska PhD, Ronald Grant MD, Bo-Yee Ngan MD, PhD
DOI: http://dx.doi.org/10.1309/98YE9E442AR7LX2X 349-364 First published online: 1 September 2006


We describe the clinical features, outcome, pathology, cytogenetics, and molecular aspects of 13 pediatric papillary renal cell carcinomas during a 19-year period. Seven cases (54%) had translocations involving Xp11.2 (TFE3). They were identified by cytogenetic, molecular, and/or immunohistochemical analyses. All Xp11.2+ translocations were TFE3+ by immunostaining. Cytogenetic and/or polymerase chain reaction analyses identified 3 cases with t(X17) and 1 case with t(1;17), and all had additional translocations. Histologic features in common in TFE3+ tumors also were present in some TFE3– tumors. One TFE3– tumor had complex cytogenetic abnormalities, 55XY,+2, del(3)(p14),+7,+8,+12,+13,+16,+17,+20[11], and 2 cases had normal karyotypes. None had t(6;11)/TFEB+ immunostaining. Five cases had focal, weak MITF tumor immunostaining.

The key clinical findings were as follows: (1) The presence of an Xp11.2 (TFE3) translocation frequently is associated with advanced stage at initial examination. (2) All patients who underwent complete, partial nephrectomy with clear margins (adequate only for stage 1) and resection of metastases were alive and relapse-free at last follow-up. (3) The mean ± SD event-free survival and overall survival rates at 5 years were both 92% ± 7.4%. (4) One patient with a TFE3+ and MITF+ tumor and 66-87,XXY,der(1)t(1;8)del(4)(q?) der(11)t(11;15)der17t(X;17) abnormalities died 9 months after diagnosis.

Key Words:
  • Immunopathology
  • Pediatric papillary renal cell carcinoma
  • Molecular diagnostics
  • Xp11.2 translocation
  • Pediatrics
  • TFE3
  • MITF
  • Cytogenetics
  • Clinical features