Pediatric renal cell carcinoma: Clinical, pathologic, and molecular abnormalities associated with the members of the MiTTranscription factor family

American Journal of Clinical Pathology

Volumn 126, Issue 3, 2006, Pages 349-364

  Ramphal, Raveena ^a   Pappo, Alberto ^a   Zielenska, Maria ^a   Grant, Ronald ^a   Ngan, Bo Yee ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Clinical features; Cytogenetics; Immunopathology; MITF; Molecular diagnostics; Pediatric papillary renal cell carcinoma; Pediatrics; TFE3; Xp11.2 translocation

Indexed keywords

TRANSCRIPTION FACTOR;

ADOLESCENT; ADVANCED CANCER; ARTICLE; CANCER SURVIVAL; CHILD; CHILDHOOD CANCER; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; FEMALE; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY CARCINOMA; MALE; NEPHRECTOMY; OUTCOMES RESEARCH; PAPILLARY CARCINOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELAPSE; SURVIVAL RATE;

EID: 33748370558     PISSN: 00029173     EISSN: None     Source Type: Journal    
DOI: 10.1309/98YE9E442AR7LX2X     Document Type: Article

References (67)

1. Bernstein L, Linet M, Smith MA, et al. Renal tumors. In: Ries LAG, Smith MA, Gurney JG, eds. Cancer Incidence and Survival Among Children and Adolescents: United States SEER Program 1975-1995, SEER Program. Bethesda, MD: National Cancer Institute; 1999:79-90.
2. Indolfi P, Terenziani M, Casale F, et al. Renal cell carcinoma in children: a clinicopathological study. J Clin Oncol. 2003;21:530-535.
3. Renshaw AA, Granter SR, Fletcher JA, et al. Renal cell carcinoma in children and young adults: increased incidence of papillary architecture and unique subtypes. Am J Surg Pathol. 1999;23:795-802.
4. Cao Y, Paner GP, Perry KT, et al. Renal neoplasm in younger adults. Arch Pathol Lab Med. 2005;129:487-491.
5. Eble JN, Sauter G, Epstein JL, et al, eds. Tumors of the kidney. In: Tumours of the Urinary System and Male Genital Organs. Lyon, France: IARC Press; 2004:37-38. World Health Organization Classification of Tumours.
6. Kovacs G, Szucs S, De Riese W, et al. Specific chromosome aberration in human renal cell carcinoma. Int J Cancer. 1987;40;171-178.
7. Tomlinson GE, Nisen PD, Timmons CF, et al. Cytogenetics of a renal cell carcinoma in a 17-month-old child: evidence for Xp11.2 as a recurrent breakpoint. Cancer Genet Cytogenet. 1991;57:11-17.
8. Dijkhuizen T, van den Berg E, Wilbrink M, et al. Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations. Genes Chromosomes Cancer. 1995;14:43-50.
9. Hernandez-Marti MJ, Orellana-Alonso C, Badia-Garrabou L, et al. Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25). Cancer Genet Cytogenet. 1995;83:82-83.
10. Carcao MD, Taylor GP, Greenberg ML, et al. Renal-cell carcinoma in children: a different disorder from its adult counterpart? Med Pediatr Oncol. 1998;31:153-158.
11. Heimann P, El Housni H, Ogur G, et al. Fusion of a novel gene RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. Cancer Res. 2001;61:4130-4135.
12. Argani P, Antonescu CR, Illei PB, et al. Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinoma of children and adolescents. Am J Pathol. 2001;159:179-192.
13. Zambrano E, Reyes-Mugica M. Renal cell carcinoma with t(X;17): singular pediatric neoplasm with specific phenotype/genotype features. Pediatr Dev Pathol. 2002;6:84-87.
14. Perot C, Boccon-Gibod L, Bouvier R, et al. Five new cases of juvenile renal cell carcinoma with translocations involving Xp11.2: a cytogenetic and morphologic study. Cancer Genet Cytogenet. 2003;143:93-99.
15. Bruder E, Passera O, Harms D, et al. Morphological and molecular characterization of renal cell carcinoma in children and young adults. Am J Surg Pathol. 2004;28:1117-1132.
16. de Jong B, Molenaar IM, Leeuw JA, et al. Cytogenetics of a renal adenocarcinoma in a 2-year-old child. Cancer Genet Cytogenet. 1986;21:165-169.
17. Meloni AM, Dobbs RM, Pontes JE, et al. Translocation (X;1) in papillary renal cell carcinoma: a new cytogenetic subtype. Cancer Genet Cytogenet. 1993;65:1-6.
18. Tonk V, Wilson KS, Timmons CF, et al. Renal cell carcinoma with translocation (X;1): further evidence for a cytogenetically defined subtype. Cancer Genet Cytogenet. 1995;81:72-75.
19. Shipley JM, Birdsall S, Clark J, et al. Mapping the X chromosome breakpoint in two papillary renal cell carcinoma cell lines with a t(X;1)(p11.2;q21.2) and the first report of a female case. Cytogenet Cell Genet. 1995;71:280-284.
20. Sidhar SK, Clark J, Gill S, et al. The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 translocation factor gene. Hum Mol Genet. 1996;5:1333-1338.
21. Weterman MAJ, Wilbrink M, Geurts van Kessel A. Fusion of the transcription factor TFE3 gene to a novel gene PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas. Proc Natl Acad Sci U S A. 1996;93:15294-15298.
22. Yenamandra A, Zhou X, Trinchitella L, et al. Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome. Am J Med Genet. 1998;77:281-284.
23. Kardas I, Denis A, Babinska M, et al. Translocation (X;1)(p11.2;q21) in a papillary renal cell carcinoma in a 14-year-old girl. Cancer Genet Cytogenet. 1998;101:159-161.
24. Da Cin P, Stas M, Sciot R, et al. Translocation (X;1) reveals metastasis 31 years after renal cell carcinoma. Cancer Genet Cytogenet. 1998;101:58-61.
25. Dijkuizen T, van den Berg E, Storkel S, et al. Distinct features for chromophilic renal cell cancer with Xp11.2 breakpoints. Cancer Genet Cytogenet. 1998;104:74-76.
26. Perot C, Bougaran J, Boccon-Gibod L, et al. Two new cases of papillary renal cell carcinoma with t(X;1)(p11.2;q21) in females. Cancer Genet Cytogenet. 1999;110:54-56.
27. Desangles F, Camparo P, Fouet C, et al. Translocation (X;1) associated with a non-papillary carcinoma in a young woman: a new definition for an Xp11.2 RCC subtype. Cancer Genet Cytogenet. 1999;113:141-144.
28. Zatta-Cannoni H, Daniel L, Roll P, et al. Molecular cytogenetics of t(X;1)(p11.2;q21) with complex rearrangements in a renal cell carcinoma. Cancer Genet Cytogenet. 2000;123:61-64.
29. Yoshida MA, Ochi-Takeuchi H, Gibas Z, et al. Updating of chromosome changes in renal cell carcinoma [abstract]. Proc Am Assoc Cancer Res. 1985;28:31.
30. Patton JG, Porro EB, Galceran J, et al. Cloning and characterization of PSF, a novel pre-mRNA splicing factor. Genes Dev. 1993;7:393-406.
31. Clark J, Lu YJ, Sidhar SK, et al. Fusion of splicing factor genes PSF and NonO(p54nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene. 1997;15:2233-2239.
32. Hemesath TJ, Steingrimson E, McGill G, et al. Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev. 1994;8:2770-2780.
33. Mansky KC, Sulzbacher S, Purdom G, et al. The microphthalmia transcription factor and the related helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to activate the tartrate-resistant acid phosphatase promoter. J Leukoc Biol. 2002;71:304-310.
34. Davis IJ, Hsi BL, Arroyo JD, et al. Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation. Proc Natl Acad Sci U S A. 2003;100:6051-6056.
35. Argani P, Lae M, Hutchinson B, et al. Renal carcinoma with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFB gene fusion by immunohistochemistry, RT-PCR, and DNA PCR. Am J Surg Pathol. 2005;29:230-240.
36. Kuiper RP, Schepens M, Thijssen J, et al. Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. Hum Mol Genet. 2003;12:1661-1669.
37. Ohjimi Y, Iwasaki H, Ishiguro M, et al. Deletion (X)(p11): another case of renal adenocarcinoma with involvement of Xp11 [letter]. Cancer Genet Cytogenet. 1993;70:77-78.
38. Delahunt B, Eble J, McCredie MRE, et al. Morphological typing of papillary renal cell carcinoma: comparison of growth kinetics and patient survival in 66 cases. Hum Pathol. 2001;32:590-595.
39. Thrash-Bingham CA, Greenberg RE, Howard S, et al. Comprehensive allelotyping of human renal cell carcinoma using microsatellite DNA probes. Proc Natl Acad Sci U S A. 1995;92:2854-2858.
40. Kovacs G, Fuzessi L, Emanuel A, et al. Cytogenetics of papillary renal cell tumors. Genes Chromosomes Cancer. 1991;3:249-255.
41. Jiang F, Richter J, Schrami P, et al. Chromosomal imbalances in papillary renal cell carcinoma: genetic differences between histological types. Am J Pathol. 1998;153:1467-1473.
42. Sanders ME, Mick R, Tomaszewski JE, et al. Unique patterns of allelic imbalance distinguish type 1 from type 2 sporadic papillary renal cell carcinoma. Am J Pathol. 2002;161:997-1005.
43. Brunelli M, Eble JN, Zhang S, et al. Gains in chromosomes 7, 17, 12, 16, and 20 and loss of Y occur early in the evolution of papillary renal cell neoplasia: a fluorescent in situ hybridization study. Mod Pathol. 2003;16:1053-1059.
44. Delahunt B, Eble JN. Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors. Mod Pathol. 1997;10:537-554.
45. Fuhrman SA, Lasky LC, Limas C. Prognostic significance of morphological parameters in renal cell carcinoma. Am J Surg Pathol. 1982;6:655-663.
46. Thompson FH. Cytogenetic methods and findings in human solid tumors. In: Barch MJ, Knutsen T, Spurbeck J, eds. The AGT Cytogenetic Laboratory Manual. 3rd ed. Philadelphia, PA: Lippincott-Raven; 1997.
47. American Joint Committee on Cancer. AJCC Cancer Staging Manual. 6th ed. Philadelphia, PA: Lippincott-Raven; 2002.
48. Argani P, Lal P, Hutchinson B, et al. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions. Am J Surg Pathol. 2003;27:750-761.
49. Lack EE, Cassady JR, Sallan SE. Renal cell carcinoma in childhood and adolescence: a clinical and pathological study of 17 cases. J Urol. 1985;133:822-828.
50. Freedman AL, Vates TS, Stewart T, et al: Renal cell carcinoma in children: the Detroit experience. J Urol. 1996;155:1708-1710.
51. Altinok G, Kattar MM, Mohamed A, et al. Pediatric renal carcinoma associated with Xp11.2 translocation/TFE3 gene fusions and clinicopathologic associations. Pediatr Dev Pathol. 2005;8:168-180.
52. Fleitz JM, Wootton-Gorges SL, Wyatt-Ashmead J, et al. Renal cell carcinoma in long-term survivors of advanced stage neuroblastoma in early childhood. Pediatr Radiol. 2003;33:540-545.
53. Eble JN. Mucinous tubular and spindle cell carcinoma and post-neuroblastoma carcinoma: newly recognized entities in the renal cell carcinoma family. Pathology. 2003;35:499-504.
54. Lam JS, Shvarts O, Pantuck AJ. Changing concepts in the surgical management of renal cell carcinoma. Eur Urol. 2004;45:692-705.
55. Argani P, Antonescu CR, Couturier J, et al. PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Am J Surg Pathol. 2002;26:1553-1566.
56. Argani P, Ladanyi M. Recent advances in pediatric renal neoplasia. Adv Anat Payhol. 2003;10:243-260.
57. Ladanyi M, Lui MY, Antonescu CR, et al. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene. 2001;20:48-57.
58. Yasumoto K, Amae S, Udono T, et al. A big gene linked to small eyes encodes multiple Mitf isoforms: many promoters make light work. Pigment Cell Res. 1998;11:329-336.
59. Selzer E, Wacheck V, Lucas T, et al. The melanocyte-specific isoform of the microphthalmia transcription factors affects the phenotype of human melanoma. Cancer Res. 2002;62:2098-2103.
60. Weterman MA, van Groningen JJ, den Hartog A, et al. Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFEPRCC fusion genes. Oncogene. 2001;20:1414-1424.
61. Miller AJ, Levy C, Davis IJ, et al. Sumoylation of MITF and its related family members TFE3 and TFEB. J Biol. Chem. 2005;280:146-155.
62. Widlund HR, Horstmann MA, Price ER, et al. Beta-catenin-induced melanoma growth requires the downstream target microphthalmia-associated transcription factor. J Cell Biol. 2002;158:1079-1087.
63. Saito H, Yasumoto K, Takeda K, et al. Microphthalmia-associated transcription factor in the Wnt signaling pathway. Pigment Cell Res. 2003;16:261-265.
64. Reya T, Clevers H. Wnt signaling in stem cell and cancer. Nature. 2005;434:843-850.
65. Argani P, Hawkins A, Griffin CA, et al. A distinct pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21;q12) chromosome translocation. Am J Pathol. 2001;158:2089-2096.
66. Raney RB, Palmer N, Sutow WW, et al. Renal cell carcinoma in children. Med Pediatr Oncol. 1983;11:91-98.
67. Atzpodien J, Kirchner H, Jonas U, et al. Interleukin-2- and interferon alpha-2a-based immunochemotherapy in advanced renal cell carcinoma: a prospectively randomized trial of the German Cooperative Renal Cell Carcinoma Group (DGCIN). J Clin Oncol. 2004;22:1188-1194.