A rare case of TFE-related pigmented renal tumor with overlapping features between melanotic Xp11 translocation renal cancer and Xp11 renal cell carcinoma with melanotic features

A rare case of TFE-related pigmented renal tumor with overlapping features between melanotic Xp11 translocation renal cancer and Xp11 renal cell carcinoma with melanotic features

Author Cardili, Leonardo Autor UNIFESP Google Scholar
Pereira, Gregorio Wrublevsky Google Scholar
Viana, Cristiano Ribeiro Google Scholar
Abstract In recent years, an increasing number of TFE3 rearrangement-associated tumors with melanotic features have been reported as primary neoplasm in different anatomical sites, including the kidney. Melanotic Xp11 translocation renal cancer (MXTRC) and Xp11 renal cell carcinoma with melanotic features (XRCCM) have been proposed to be main categories for pigmented lesions in the microophthalmia-associated transcription factor (MiTF/TFE3) family of renal tumors that may show variable degrees of melanocytic differentiation. Herein we report a rare case of TFE3-related pigmented renal tumor showing unusual immunoexpression of cytokeratins (AE1/AE3) and renal cell carcinoma markers (RCC, CD10). Cathepsin-K and Vimentin were diffusely positive whereas melanocytic markers (HMB-45 and Melan-A) displayed weak and patchy expression. We found no labelling for PAX-8, muscle markers (desmin, smooth muscle actin, muscle-specific actin and caldesmon) and S-100. TFE3 fusion was confirmed by break-apart fluorescence in situ hybridization (FISH). This case corroborates previous evidence for overlap in the TFE3-associated cancer family and illustrates that it may not be possible to set a clear cutoff between epithelial (XRCCM) and mesenchymal (MXTRC) subgroups.
Keywords kidney
melanin
neoplasms
TFE3
Xp11
xmlui.dri2xhtml.METS-1.0.item-coverage Hoboken
Language English
Date 2017
Published in Pathology International. Hoboken, v. 67, n. 4, p. 208-213, 2017.
ISSN 1320-5463 (Sherpa/Romeo, impact factor)
Publisher Wiley
Extent 208-213
Origin http://dx.doi.org/10.1111/pin.12517
Access rights Closed access
Type Article
Web of Science ID WOS:000398594700004
URI https://repositorio.unifesp.br/handle/11600/54846

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