Diagnostic pitfall on the histological spectrum of adult-onset renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.
Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion recently has been found. In this article, we demonstrate an unusual features of such a case. A 73-year-old Japanese woman presented with macroscopic hematuria. The imaging examinations disclosed the renal tumor. Histological examination showed the finding of ASPL-TFE3 RCC, which was characterized by papillary, alveolar, or solid growth of voluminous cell with clear and eosinophilic cells, and stromal psammoma body and hyaline nodules. Additionally, shrunken nuclei, thick cell border, and perinuclear clearing characteristic of chromophobe renal cell carcinoma were observed in the alveolar growth area and the transitional zone between stromal hyalinization, and osseous metaplasia was identified. Immunohistochemically, nuclei of tumorous cell were diffusely positive for TFE3. A RT-PCR study revealed the ASPL-TFE3 chimeric transcript. Finally, pathologists should recognize that the histology of RCC associated with Xp11.2 translocation/TFE3 gene fusion may focally resemble that of chromophobe RCC, but TFE3 immunohistochemistry and molecular genetic study may be helpful in the differential diagnosis. Moreover, osseous metaplasia as well as psammoma bodies should be added to the histological spectrum of the stromal change in RCC associated with Xp11.2 translocations/TFE3 gene fusions.
Kuroda
Naoto
N
Department of Diagnostic Pathology, Kochi Red Cross Hospital, 2-13-51 Shin-honmachi, Kochi, 780-8562, Japan. kurochankochi@yahoo.co.jp
Katto
Kazunobu
K
Tanaka
Yukichi
Y
Yamaguchi
Tadanori
T
Inoue
Kaori
K
Ohara
Masahiko
M
Mizuno
Keiko
K
Hes
Ondrej
O
Michal
Michal
M
Lee
Gang-Hong
GH
D000328:Adult; D017668:Age of Onset; D000368:Aged; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D002871:Chromosome Banding; D041321:Chromosomes, Human, X / Q000235:genetics*; D003951:Diagnostic Errors; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007150:Immunohistochemistry; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic; D055815:Young Adult
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D015514:Oncogene Proteins, Fusion; C069203:TFE3 protein, human