title: Pediatric renal cell carcinoma: clinical, pathologic, and molecular abnormalities associated with the members of the mit transcription factor family.
abstract: 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 patients 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.
authors.affiliation: Department of Pediatrics, Division of Haematology/Oncology, Division of Pathology, Hospital for Sick Children, Toronto, Canada.
authors.forename: Raveena
authors.initials: R
authors.lastname: Ramphal
authors.forename: Alberto
authors.initials: A
authors.lastname: Pappo
authors.forename: Maria
authors.initials: M
authors.lastname: Zielenska
authors.forename: Ronald
authors.initials: R
authors.lastname: Grant
authors.forename: Bo-Yee
authors.initials: BY
authors.lastname: Ngan
mesh_terms: D000293:Adolescent; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000032:analysis / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000737:chemistry / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007680:Kidney Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology*; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000032:analysis / Q000235:genetics; D009363:Neoplasm Proteins / Q000032:analysis / Q000235:genetics; D009367:Neoplasm Staging; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D051739:Microphthalmia-Associated Transcription Factor; D009363:Neoplasm Proteins; C069203:TFE3 protein, human; C064972:TFEB protein, human; C082272:TFEC protein, human