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Tytuł pozycji:

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.

Tytuł:
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.
Autorzy:
Haudebourg J; Department of Pathology, Nice University Hospital, 33 Avenue Valombrose, Nice Cedex 1, France. />Hoch B
Fabas T
Burel-Vandenbos F
Carpentier X
Amiel J
Cardot-Leccia N
Michiels JF
Pedeutour F
Źródło:
Cancer genetics and cytogenetics [Cancer Genet Cytogenet] 2010 Jul 15; Vol. 200 (2), pp. 75-8.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Original Publication: [New York] Elsevier/North-Holland.
MeSH Terms:
Chromosomes, Human, Pair 1*
Chromosomes, Human, X*
Gene Rearrangement*
Translocation, Genetic*
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics
Carcinoma, Renal Cell/*genetics
Kidney Neoplasms/*genetics
Carcinoma, Renal Cell/pathology ; Female ; Humans ; Kidney Neoplasms/pathology ; Middle Aged
Substance Nomenclature:
0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
0 (TFE3 protein, human)
Entry Date(s):
Date Created: 20100713 Date Completed: 20100730 Latest Revision: 20100712
Update Code:
20240104
DOI:
10.1016/j.cancergencyto.2010.03.011
PMID:
20620589
Czasopismo naukowe
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.
(Copyright (c) 2010 Elsevier Inc. All rights reserved.)

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