Perivascular epithelioid cell tumor (PEComa) of the urinary bladder associated with Xp11 translocation.
Perivascular epithelioid cell-containing tumors (PEComas) represent a rare family of neoplasms. Their dichotomous phenotypic features, including both myogenic and mylanocytic features, can make a definitive diagnosis difficult. Such tumors have been associated with the overexpression of transcription factor E3 (TFE3). An Xp11 translocation could account for the aberrant activity of TFE3 but has never before been described in affiliation with a PEComa of the urinary bladder. While PEComas of the bladder have exhibited benign clinical courses to date, here we present an intravesical PEComa shown to have an Xp11 translocation and resultant overexpression of TFE3, indicating an aggressive, metastatic nature. No consistent tumor characteristics have proven accurate at identifying aggressive tumors. However, mTOR inhibitors offer a mechanistic management strategy when systemic therapy is warranted.
Associate Member, Department of Genitourinary Oncology, Moffitt Cancer Center and Research Institute, 12902 Magnolia Drive, Tampa, FL 33612, USA; phone: 813 745 3973; fax: 813 745 8494; e mail: wade.sexton@moffitt.org.
Christopher M
CM
Russell
David D
DD
Buethe
Shohreh
S
Dickinson
Wade J
WJ
Sexton
D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002467:Cell Nucleus / Q000473:pathology; D005260:Female; D056426:Genetic Loci; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D054973:Perivascular Epithelioid Cell Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014178:Translocation, Genetic; D001743:Urinary Bladder / Q000000981:diagnostic imaging / Q000473:pathology*
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human