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NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma
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NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma
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Journal Article
NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma
2019
Overview
Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either
TFE3
or
TFEB
genes. Multiple 5′ fusion partners for
TFE3
have been reported, including
ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15
, and
RBM10
. Each of these fusion genes activates
TFE3
transcription which can be detected by immunostaining. Using targeted RNA-sequencing,
TFE3
fusion gene partners were identified in 5 cases of TFE3 immunohistochemistry positive translocation renal cell carcinoma. Three cases demonstrated known fusions:
ASPSCR1-TFE3, MED15-TFE3
and
RBM10-TFE3
. However, two cases showed unreported
NEAT1-TFE3
and
KAT6A-TFE3
fusion transcripts. The
NEAT1-TFE3
RCC arose in a 59-year-old male; which demonstrated overlapping morphological features seen in
NEAT2(MALAT1)-TFEB
t(6;11) renal cell carcinoma, including biphasic alveolar/nested tumor cells with eosinophilic cytoplasm. The
KAT6A-TFE3
renal cell carcinoma demonstrated typical morphological features of
TFE3
/Xp11 renal cell carcinoma including papillae, eosinophilic cytoplasm with focal clearing and abundant psammoma bodies.
KAT6A
gene fusion was reported in some cases of acute myeloid leukemia, which has not been previously reported in solid tumors. This report highlights the genetic complexity of
TFE3
translocation renal cell carcinoma; and RNA-sequencing is a powerful approach for elucidating the underlying genetic alterations.
Publisher
Nature Publishing Group US,Elsevier Limited
Subject
/ 82/51
/ Aged
/ Alveoli
/ Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics
/ Biomarkers, Tumor - genetics
/ Carcinoma, Renal Cell - genetics
/ Carcinoma, Renal Cell - pathology
/ Female
/ Genes
/ Genetic Predisposition to Disease
/ Histone Acetyltransferases - genetics
/ Humans
/ Kidney Neoplasms - pathology
/ Male
/ Medicine
/ Microphthalmia-associated transcription factor
/ Papillae
/ RNA
