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MiT Family Translocation Renal Cell Carcinoma: from the Early Descriptions to the Current Knowledge

1
Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona 37134, Italy
2
Department of Pathology, Pederzoli Hospital, Peschiera del Garda 37019, Italy
3
Department of Pathology, Sacro Cuore Hospital, Negrar 37024, Italy
*
Author to whom correspondence should be addressed.
Cancers 2019, 11(8), 1110; https://doi.org/10.3390/cancers11081110
Received: 13 July 2019 / Revised: 29 July 2019 / Accepted: 30 July 2019 / Published: 3 August 2019
(This article belongs to the Special Issue Renal Cell Carcinoma)
The new category of MiT family translocation renal cell carcinoma has been included into the World Health Organization (WHO) classification in 2016. The MiT family translocation renal cell carcinoma comprises Xp11 translocation renal cell carcinoma harboring TFE3 gene fusions and t(6;11) renal cell carcinoma harboring TFEB gene fusion. At the beginning, they were recognized in childhood; nevertheless, it has been demonstrated that these neoplasms can occur in adults as well. In the nineties, among Xp11 renal cell carcinoma, ASPL, PRCC, and SFPQ (PSF) were the first genes recognized as partners in TFE3 rearrangement. Recently, many other genes have been identified, and a wide spectrum of morphologies has been described. For this reason, the diagnosis may be challenging based on the histology, and the differential diagnosis includes the most common renal cell neoplasms and pure epithelioid PEComa/epithelioid angiomyolipoma of the kidney. During the last decades, many efforts have been made to identify immunohistochemical markers to reach the right diagnosis. To date, staining for PAX8, cathepsin K, and melanogenesis markers are the most useful identifiers. However, the diagnosis requires the demonstration of the chromosomal rearrangement, and fluorescent in situ hybridization (FISH) is considered the gold standard. The outcome of Xp11 translocation renal cell carcinoma is highly variable, with some patients surviving decades with indolent disease and others dying rapidly of progressive disease. Despite most instances of t(6;11) renal cell carcinoma having an indolent clinical course, a few published cases demonstrate aggressive behavior. Recently, renal cell carcinomas with TFEB amplification have been described in connection with t(6;11) renal cell carcinoma. Those tumors appear to be associated with a more aggressive clinical course. For the aggressive cases of MiT family translocation carcinoma, the optimal therapy remains to be determined; however, new target therapies seem to be promising, and the search for predictive markers is mandatory. View Full-Text
Keywords: MiT family translocation renal cell carcinoma; Xp11 translocation renal cell carcinoma; t(6;11) translocation renal cell carcinoma; FISH; TFE3; TFEB; TFEB-amplified renal cell carcinoma MiT family translocation renal cell carcinoma; Xp11 translocation renal cell carcinoma; t(6;11) translocation renal cell carcinoma; FISH; TFE3; TFEB; TFEB-amplified renal cell carcinoma
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Caliò, A.; Segala, D.; Munari, E.; Brunelli, M.; Martignoni, G. MiT Family Translocation Renal Cell Carcinoma: from the Early Descriptions to the Current Knowledge. Cancers 2019, 11, 1110.

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