title: A novel case of t(X;1)(p11.2;p34) in a renal cell carcinoma with TFE3 rearrangement and favorable outcome in a 57-year-old patient.
abstract: Renal cell carcinoma (RCC) with translocation involving Xp11.2 (Xp11.2-RCC) is a rare neoplasm that usually occurs in children and young adults. This incidence is underestimated in adults because its morphological similarities with clear-cell RCC or papillary RCC2,3, as well as immunohistochemical and cytogenetic analyses are not carried out systematically in adults. We present a novel case of Xp11.2-RCC in a 57-year-old woman. The histologic features were those of a clear-cell RCC. Molecular cytogenetic analysis showed an uncommon t(X;1)(p11.2;p34) with TFE3 rearrangement and no alteration of chromosome 3. The immunohistochemical analysis showed expression of the TFE3 protein. Only nine cases of (X;1)(p11.2;p34) have been published, most of them occurring in children or young adults. To our knowledge, this is the second report of such a translocation in a patient older than 55 years. After a follow-up period of 13 months, the patient showed no evidence of disease. The clinical outcome was favorable, indicating that this particular translocation might be associated with a good prognosis. This observation confirms that Xp11.2-RCC are very likely to be underestimated in adults older than 40 years, and it highlights the importance of performing immunohistochemical and cytogenetic analyses in RCC for accurate diagnosis.
authors.affiliation: Department of Pathology, Nice University Hospital, 33 Avenue Valombrose, Nice Cedex 1, France. juliette.haudebourg@nice.fnclcc.fr
authors.forename: Juliette
authors.initials: J
authors.lastname: Haudebourg
authors.forename: Benjamin
authors.initials: B
authors.lastname: Hoch
authors.forename: Thibault
authors.initials: T
authors.lastname: Fabas
authors.forename: Fanny
authors.initials: F
authors.lastname: Burel-Vandenbos
authors.forename: Xavier
authors.initials: X
authors.lastname: Carpentier
authors.forename: Jean
authors.initials: J
authors.lastname: Amiel
authors.forename: Nathalie
authors.initials: N
authors.lastname: Cardot-Leccia
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Michiels
authors.forename: Florence
authors.initials: F
authors.lastname: Pedeutour
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D002878:Chromosomes, Human, Pair 1; D041321:Chromosomes, Human, X; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human