Translocation (X;1) associated with a nonpapillary carcinoma in a young woman: a new definition for an Xp11.2 RCC subtype.

We report a translocation (X;1)(p11.2;q21) associated with a nontubulopapillary renal cell carcinoma in a 23-year-old woman. To our knowledge this the first report of such an association. A review of the previously published cases of renal cell carcinoma with t(X;1) and its cytogenetic variants with Xp11.2 anomalies is included. The role of this karyotype abnormality as a clinical marker is discussed. The Xp11.2 abnormality could be a primary abnormality characterizing a particular type of RCC appearing in children and young adults of both sexes and in which the histological aspect is not specific.