Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient

Lorenza Pecciarini, M. Giulia Cangi, Crocifissa Lo Cunsolo, Ettore Macri, Elena Dal Cin, Guido Martignoni, Claudio Doglioni

Research output: Contribution to journalArticle

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Abstract

Renal-cell carcinoma (RCC) constitutes a heterogeneous group of tumors with specific chromosome aberrations. Recently, a new small group of RCC, occurring in children and young adults, has been described as characterized by t(6;11)(p21;q12). It has been shown that this translocation results in the fusion of the 5′ portion of the ALPHA gene (11q12) with the transcription factor gene TFEB (6p21). Herewith, we report the first complete cytogenetic and molecular characterization of a t(6;11)-positive RCC of an adult patient, a 54-year-old woman. The tumor was histologically defined as RCC with peculiar features and it was negative for epithelial markers and positive for melanocytic markers. Chromosome QFQ banding analysis of short-term cultured cells from the RCC showed t(6;11)(p21;q12) as the sole cytogenetic abnormality. The translocation was confirmed by FISH analysis. RT-PCR analysis, performed on total RNA isolated from both neoplastic and normal tissue samples, revealed an ALPHA-TFEB chimeric transcript in the tumor sample; sequencing of the RT-PCR product defined a novel TFEB gene breakpoint cluster region, broader than the one reported thus far. Western blot analysis showed a band at the expected size of wild-type TFEB in the neoplastic tissue compared to the normal sample, supporting that the fusion gene does not encode for a chimeric protein but it causes an upregulation of the wild-type TFEB. Our data contribute to define better this rare RCC type, which is typical not only of childhood but can also be found in adulthood.

Original languageEnglish
Pages (from-to)419-426
Number of pages8
JournalGenes Chromosomes and Cancer
Volume46
Issue number5
DOIs
Publication statusPublished - May 2007

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Renal Cell Carcinoma
Chromosome Aberrations
Chromosome Banding
Neoplasms
Polymerase Chain Reaction
Gene Fusion
Multigene Family
Cytogenetics
Genes
Young Adult
Cultured Cells
Transcription Factors
Up-Regulation
Western Blotting
RNA
Proteins

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Pecciarini, L., Cangi, M. G., Lo Cunsolo, C., Macri, E., Dal Cin, E., Martignoni, G., & Doglioni, C. (2007). Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient. Genes Chromosomes and Cancer, 46(5), 419-426. https://doi.org/10.1002/gcc.20422

Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient. / Pecciarini, Lorenza; Cangi, M. Giulia; Lo Cunsolo, Crocifissa; Macri, Ettore; Dal Cin, Elena; Martignoni, Guido; Doglioni, Claudio.

In: Genes Chromosomes and Cancer, Vol. 46, No. 5, 05.2007, p. 419-426.

Research output: Contribution to journalArticle

Pecciarini, L, Cangi, MG, Lo Cunsolo, C, Macri, E, Dal Cin, E, Martignoni, G & Doglioni, C 2007, 'Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient', Genes Chromosomes and Cancer, vol. 46, no. 5, pp. 419-426. https://doi.org/10.1002/gcc.20422
Pecciarini L, Cangi MG, Lo Cunsolo C, Macri E, Dal Cin E, Martignoni G et al. Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient. Genes Chromosomes and Cancer. 2007 May;46(5):419-426. https://doi.org/10.1002/gcc.20422
Pecciarini, Lorenza ; Cangi, M. Giulia ; Lo Cunsolo, Crocifissa ; Macri, Ettore ; Dal Cin, Elena ; Martignoni, Guido ; Doglioni, Claudio. / Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient. In: Genes Chromosomes and Cancer. 2007 ; Vol. 46, No. 5. pp. 419-426.
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