Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer

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• 作者：Jé ; rô ; me Doyen^a ; ^b ; Xavier Carpentier^c ; ^d ; Juliette Haudebourg^b ; ^e ; Benjamin Hoch^a ; Houda Karmous-Benailly^f ; Damien Ambrosetti^b ; ^d ; ^e ; Thibault Fabas^a ; Jean Amiel^c ; ^d ; Jean-Claude Lambert^d ; ^f ; Florence Pedeutour^a ; ^b ; ^d ; ^{florence.pedeutour@unice.fr}
• 关键词：Renal cell carcinoma ; t(11 ; 22) ; balanced translocation ; constitutional rearrangement
• 刊名：Cancer Genetics
• 出版年：2012
• 出版时间：November, 2012
• 年：2012
• 卷：205
• 期：11
• 页码：603-607
• 全文大小：408 K

文摘

We observed a t(11;22)(q23-24;q11.2-12) and monosomy 3 in renal tumor cells from a 72-year-old man. The hypothesis of a primitive peripheral neuroectodermal tumor (PPNET) located in the kidney was promptly excluded: Histologically, the tumor was a clear cell renal cell carcinoma (RCC) and we did not observe an EWSR1 gene rearrangement. The constitutional origin of this alteration was established. We report on the second case of RCC in a patient with a constitutional t(11;22). The t(11;22)(q23;q11.2) is the main recurrent germline translocation in humans. Unbalanced translocation can be transmitted to the progeny and can cause Emanuel syndrome. Our observation alerts cancer cytogeneticists to the fortuitous discovery of the constitutional t(11;22) in tumor cells. This translocation appears grossly similar to the t(11;22)(q24;q12) of PPNET and should be evoked if present in all cells of a tumor other than PPNET. This is important when providing appropriate genetic counseling. Moreover, the potential oncogenic role of the t(11;22) and its predisposing risk of cancer are under debate. The family history of the patient revealed a disabled brother who died at an early age from colon cancer and a sister with breast cancer. This observation reopens the issue of a link between the constitutional t(11;22) and cancer, and the utility of cancer prevention workups for t(11;22) carriers.