title: 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.
abstract: 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.
authors.affiliation: Laboratory of Solid Tumors Genetics, Nice University Hospital, Nice, France.
authors.forename: Jérôme
authors.initials: J
authors.lastname: Doyen
authors.forename: Xavier
authors.initials: X
authors.lastname: Carpentier
authors.forename: Juliette
authors.initials: J
authors.lastname: Haudebourg
authors.forename: Benjamin
authors.initials: B
authors.lastname: Hoch
authors.forename: Houda
authors.initials: H
authors.lastname: Karmous-Benailly
authors.forename: Damien
authors.initials: D
authors.lastname: Ambrosetti
authors.forename: Thibault
authors.initials: T
authors.lastname: Fabas
authors.forename: Jean
authors.initials: J
authors.lastname: Amiel
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Lambert
authors.forename: Florence
authors.initials: F
authors.lastname: Pedeutour
mesh_terms: D059786:Abnormal Karyotype; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000648:ultrastructure; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006651:Histocytochemistry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics* / Q000648:ultrastructure; D008297:Male; D014178:Translocation, Genetic