A Case of Renal Cancer with Tfe3 Gene Fusion in an Elderly Man

Abstract

Sporadic cases of a particular group of renal cancers associated with a translocation involving Xp11.2, known as the TFE3 transcription factor gene, have been reported in the last 20 years. The group was also classified in 2004 WHO kidney carcinoma classifications. A 79-year-old male patient was investigated at the outpatient department for gross intermittent hematuria. Sonography showed a spherical left kidney with increased total size, without evidence of the corticomedullary differentiation due to parenchymal dyshomogeneity with a neoplasm aspect. CT confirmed the sonographic left kidney findings and showed gross node involvement. Angiography did not show any pathological arterial circulation, but massive thrombotic involvement of the renal vein was evident. Radical nephrectomy with thrombectomy and staging lymphectomy were performed. At pathological examination the kidney parenchyma was completely substituted by white firm tissue. Microscopically the tumor was composed of papillary structures lined by epithelial cells with a clear cytoplasm. Multiple node metastases were found. Immunohistochemical examination showed negativity for epithelial markers (cytokeratin and epithelial membrane antigen) and reactivity for CD10 and TFE3. The genetic and histological aspects of this rare tumor are reported. In addition, we describe clinical, radiological and surgical findings.

A distinctive translocation carcinoma of the kidney; “rosette forming,” t(6;11), HMB45-positive renal tumor: a histomorphologic, immunohistochemical, ultrastructural, and molecular genetic study of 4 cases

“…In addition to a recent group of renal tumors labeled renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions that has been included in the latest (2004) World Health Organization classification of renal tumors, the existence of another group of translocation associated renal neoplasms has become apparent [1][2][3]. This subset of renal tumors displays a balanced translocation t(6;11), first described in 1996 by Dijkhuizen at al [4].…”

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

“…Citations of articles used in the table: Argani et al 2007 Rais-Bahrami et al 2007 LaGrange et al 2007 Franzini et al 2007 Hora et al 2008 Camparo et al 2008 Hora et al 2009 Suarez-Vilela et al 2011, Koie et al 2009 Armah et al 2009 Kuroda et al 2010 Choueiri et al 2010 Ishihara et al 2011 Liu et al 2011 Nelius et al 2011 Numakura et al 2011, Kato et al 2011 Klatte et al 2012 Morii et al 2012 Rao et al 2012 Inamura et al 2012 Arnoux et al 2012 Komai et al 2009 Gaillot-Durand et al 2013.…”

Long-Term Survival in a Patient with Node-Positive Adult-Onset Xp11.2 Translocation Renal Cell Carcinoma

“…On the other hand, its incidence is very low in adults, and Komai et al [7] reported that Xp11 translocation RCC was found in only 7 of 443 adult RCC patients. Although Xp11.2 translocation RCC has a relatively good prognosis in pediatric cases, adult-onset Xp11.2 translocation RCC is reported to have a poor prognosis [2,7,8] . The reasons for this include the fact that most patients have an advanced clinical stage at diagnosis and also that there is a lack of effective systemic therapy.…”