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Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion: morphology, prognosis, and potential pitfall in detecting TFE3 gene rearrangement
Xp11 translocation renal cell carcinomas are characterized by several different translocations involving the TFE3 gene. Tumors with different specific gene fusions may have different clinicopathological manifestations. Fewer than 10 renal cell carcinoma cases with NONO-TFE3 have been described. Here...
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Published in: | Modern pathology 2017-03, Vol.30 (3), p.416-426 |
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description | Xp11 translocation renal cell carcinomas are characterized by several different translocations involving the
TFE3
gene. Tumors with different specific gene fusions may have different clinicopathological manifestations. Fewer than 10 renal cell carcinoma cases with
NONO-TFE3
have been described. Here we examined eight additional cases of this rare tumor using clinicopathological, immunohistochemical, and molecular analyses. The male-to-female ratio of our study cohort was 1:1, and the median age was 30 years. The most distinctive feature of the tumors was that they exhibited glandular/tubular or papillary architecture that was lined with small-to-medium cuboidal to high columnar cells with indistinct cell borders and an abundantly clear or flocculent eosinophilic cytoplasm. The nuclei were oriented toward the luminal surface and were round and uniform in shape, which resulted in the appearance of secretory endometrioid subnuclear vacuolization. The distinct glandular/tubular or papillary architecture was often accompanied by sheets of epithelial cells that presented a biphasic pattern. Immunohistochemically, all eight cases demonstrated moderate (2+) or strong (3+) positive staining for TFE3, CD10, RCC marker, and PAX-8. None of the tumors were immunoreactive for CK7, Cathepsin K, Melan-A, HMB45, Ksp-cadherin, Vimentin, CA9, 34βE12 or CD117.
NONO-TFE3
fusion transcripts were identified in six cases by RT-PCR. All eight cases showed equivocal split signals with a distance of nearly 2 signal diameters and sometimes had false-negative results. Furthermore, we developed a fluorescence
in situ
hybridization (FISH) assay to serve as an adjunct diagnostic tool for the detection of the
NONO-TFE3
fusion gene and used this method to detect the fusion gene in all eight cases. Long-term follow-up (range, 10–102 months) was available for 7 patients. All 7 patients were alive with no evidence of recurrent disease or disease progression after their initial resection. This report adds to the known data regarding
NONO-TFE3
renal cell carcinoma. |
doi_str_mv | 10.1038/modpathol.2016.204 |
format | article |
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TFE3
gene. Tumors with different specific gene fusions may have different clinicopathological manifestations. Fewer than 10 renal cell carcinoma cases with
NONO-TFE3
have been described. Here we examined eight additional cases of this rare tumor using clinicopathological, immunohistochemical, and molecular analyses. The male-to-female ratio of our study cohort was 1:1, and the median age was 30 years. The most distinctive feature of the tumors was that they exhibited glandular/tubular or papillary architecture that was lined with small-to-medium cuboidal to high columnar cells with indistinct cell borders and an abundantly clear or flocculent eosinophilic cytoplasm. The nuclei were oriented toward the luminal surface and were round and uniform in shape, which resulted in the appearance of secretory endometrioid subnuclear vacuolization. The distinct glandular/tubular or papillary architecture was often accompanied by sheets of epithelial cells that presented a biphasic pattern. Immunohistochemically, all eight cases demonstrated moderate (2+) or strong (3+) positive staining for TFE3, CD10, RCC marker, and PAX-8. None of the tumors were immunoreactive for CK7, Cathepsin K, Melan-A, HMB45, Ksp-cadherin, Vimentin, CA9, 34βE12 or CD117.
NONO-TFE3
fusion transcripts were identified in six cases by RT-PCR. All eight cases showed equivocal split signals with a distance of nearly 2 signal diameters and sometimes had false-negative results. Furthermore, we developed a fluorescence
in situ
hybridization (FISH) assay to serve as an adjunct diagnostic tool for the detection of the
NONO-TFE3
fusion gene and used this method to detect the fusion gene in all eight cases. Long-term follow-up (range, 10–102 months) was available for 7 patients. All 7 patients were alive with no evidence of recurrent disease or disease progression after their initial resection. This report adds to the known data regarding
NONO-TFE3
renal cell carcinoma.</description><identifier>ISSN: 0893-3952</identifier><identifier>EISSN: 1530-0285</identifier><identifier>DOI: 10.1038/modpathol.2016.204</identifier><identifier>PMID: 27934879</identifier><identifier>CODEN: MODPEO</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>38/32 ; 45/23 ; 45/90 ; 631/208/68 ; 631/67/589/1588/1351 ; Adult ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics ; Carcinoma, Renal Cell - genetics ; Carcinoma, Renal Cell - pathology ; DNA-Binding Proteins ; Female ; Gene Rearrangement ; Genes ; Hospitals ; Humans ; Kidney cancer ; Kidney Neoplasms - genetics ; Kidney Neoplasms - pathology ; Laboratory Medicine ; Male ; Medical prognosis ; Medicine ; Medicine & Public Health ; Middle Aged ; Morphology ; Nuclear Matrix-Associated Proteins - genetics ; Octamer Transcription Factors - genetics ; Oncogene Fusion ; original-article ; Pathology ; Prognosis ; RNA-Binding Proteins - genetics ; Tumors ; Young Adult</subject><ispartof>Modern pathology, 2017-03, Vol.30 (3), p.416-426</ispartof><rights>United States & Canadian Academy of Pathology USCAP, Inc 2017</rights><rights>Copyright Nature Publishing Group Mar 2017</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c452t-9e63d623b057c578dcde684b888aa9d7bf46fdba9a5e272035bbab158ceeb5823</citedby><cites>FETCH-LOGICAL-c452t-9e63d623b057c578dcde684b888aa9d7bf46fdba9a5e272035bbab158ceeb5823</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27934879$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xia, Qiu-yuan</creatorcontrib><creatorcontrib>Wang, Zhe</creatorcontrib><creatorcontrib>Chen, Ni</creatorcontrib><creatorcontrib>Gan, Hua-lei</creatorcontrib><creatorcontrib>Teng, Xiao-dong</creatorcontrib><creatorcontrib>Shi, Shan-shan</creatorcontrib><creatorcontrib>Wang, Xuan</creatorcontrib><creatorcontrib>Wei, Xue</creatorcontrib><creatorcontrib>Ye, Sheng-bing</creatorcontrib><creatorcontrib>Li, Rui</creatorcontrib><creatorcontrib>Ma, Heng-hui</creatorcontrib><creatorcontrib>Lu, Zhen-feng</creatorcontrib><creatorcontrib>Zhou, Xiao-jun</creatorcontrib><creatorcontrib>Rao, Qiu</creatorcontrib><title>Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion: morphology, prognosis, and potential pitfall in detecting TFE3 gene rearrangement</title><title>Modern pathology</title><addtitle>Mod Pathol</addtitle><addtitle>Mod Pathol</addtitle><description>Xp11 translocation renal cell carcinomas are characterized by several different translocations involving the
TFE3
gene. Tumors with different specific gene fusions may have different clinicopathological manifestations. Fewer than 10 renal cell carcinoma cases with
NONO-TFE3
have been described. Here we examined eight additional cases of this rare tumor using clinicopathological, immunohistochemical, and molecular analyses. The male-to-female ratio of our study cohort was 1:1, and the median age was 30 years. The most distinctive feature of the tumors was that they exhibited glandular/tubular or papillary architecture that was lined with small-to-medium cuboidal to high columnar cells with indistinct cell borders and an abundantly clear or flocculent eosinophilic cytoplasm. The nuclei were oriented toward the luminal surface and were round and uniform in shape, which resulted in the appearance of secretory endometrioid subnuclear vacuolization. The distinct glandular/tubular or papillary architecture was often accompanied by sheets of epithelial cells that presented a biphasic pattern. Immunohistochemically, all eight cases demonstrated moderate (2+) or strong (3+) positive staining for TFE3, CD10, RCC marker, and PAX-8. None of the tumors were immunoreactive for CK7, Cathepsin K, Melan-A, HMB45, Ksp-cadherin, Vimentin, CA9, 34βE12 or CD117.
NONO-TFE3
fusion transcripts were identified in six cases by RT-PCR. All eight cases showed equivocal split signals with a distance of nearly 2 signal diameters and sometimes had false-negative results. Furthermore, we developed a fluorescence
in situ
hybridization (FISH) assay to serve as an adjunct diagnostic tool for the detection of the
NONO-TFE3
fusion gene and used this method to detect the fusion gene in all eight cases. Long-term follow-up (range, 10–102 months) was available for 7 patients. All 7 patients were alive with no evidence of recurrent disease or disease progression after their initial resection. This report adds to the known data regarding
NONO-TFE3
renal cell carcinoma.</description><subject>38/32</subject><subject>45/23</subject><subject>45/90</subject><subject>631/208/68</subject><subject>631/67/589/1588/1351</subject><subject>Adult</subject><subject>Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics</subject><subject>Carcinoma, Renal Cell - genetics</subject><subject>Carcinoma, Renal Cell - pathology</subject><subject>DNA-Binding Proteins</subject><subject>Female</subject><subject>Gene Rearrangement</subject><subject>Genes</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Kidney cancer</subject><subject>Kidney Neoplasms - genetics</subject><subject>Kidney Neoplasms - pathology</subject><subject>Laboratory Medicine</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Morphology</subject><subject>Nuclear Matrix-Associated Proteins - genetics</subject><subject>Octamer Transcription Factors - 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Academic</collection><jtitle>Modern pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Xia, Qiu-yuan</au><au>Wang, Zhe</au><au>Chen, Ni</au><au>Gan, Hua-lei</au><au>Teng, Xiao-dong</au><au>Shi, Shan-shan</au><au>Wang, Xuan</au><au>Wei, Xue</au><au>Ye, Sheng-bing</au><au>Li, Rui</au><au>Ma, Heng-hui</au><au>Lu, Zhen-feng</au><au>Zhou, Xiao-jun</au><au>Rao, Qiu</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion: morphology, prognosis, and potential pitfall in detecting TFE3 gene rearrangement</atitle><jtitle>Modern pathology</jtitle><stitle>Mod Pathol</stitle><addtitle>Mod Pathol</addtitle><date>2017-03-01</date><risdate>2017</risdate><volume>30</volume><issue>3</issue><spage>416</spage><epage>426</epage><pages>416-426</pages><issn>0893-3952</issn><eissn>1530-0285</eissn><coden>MODPEO</coden><abstract>Xp11 translocation renal cell carcinomas are characterized by several different translocations involving the
TFE3
gene. Tumors with different specific gene fusions may have different clinicopathological manifestations. Fewer than 10 renal cell carcinoma cases with
NONO-TFE3
have been described. Here we examined eight additional cases of this rare tumor using clinicopathological, immunohistochemical, and molecular analyses. The male-to-female ratio of our study cohort was 1:1, and the median age was 30 years. The most distinctive feature of the tumors was that they exhibited glandular/tubular or papillary architecture that was lined with small-to-medium cuboidal to high columnar cells with indistinct cell borders and an abundantly clear or flocculent eosinophilic cytoplasm. The nuclei were oriented toward the luminal surface and were round and uniform in shape, which resulted in the appearance of secretory endometrioid subnuclear vacuolization. The distinct glandular/tubular or papillary architecture was often accompanied by sheets of epithelial cells that presented a biphasic pattern. Immunohistochemically, all eight cases demonstrated moderate (2+) or strong (3+) positive staining for TFE3, CD10, RCC marker, and PAX-8. None of the tumors were immunoreactive for CK7, Cathepsin K, Melan-A, HMB45, Ksp-cadherin, Vimentin, CA9, 34βE12 or CD117.
NONO-TFE3
fusion transcripts were identified in six cases by RT-PCR. All eight cases showed equivocal split signals with a distance of nearly 2 signal diameters and sometimes had false-negative results. Furthermore, we developed a fluorescence
in situ
hybridization (FISH) assay to serve as an adjunct diagnostic tool for the detection of the
NONO-TFE3
fusion gene and used this method to detect the fusion gene in all eight cases. Long-term follow-up (range, 10–102 months) was available for 7 patients. All 7 patients were alive with no evidence of recurrent disease or disease progression after their initial resection. This report adds to the known data regarding
NONO-TFE3
renal cell carcinoma.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>27934879</pmid><doi>10.1038/modpathol.2016.204</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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subjects | 38/32 45/23 45/90 631/208/68 631/67/589/1588/1351 Adult Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics Carcinoma, Renal Cell - genetics Carcinoma, Renal Cell - pathology DNA-Binding Proteins Female Gene Rearrangement Genes Hospitals Humans Kidney cancer Kidney Neoplasms - genetics Kidney Neoplasms - pathology Laboratory Medicine Male Medical prognosis Medicine Medicine & Public Health Middle Aged Morphology Nuclear Matrix-Associated Proteins - genetics Octamer Transcription Factors - genetics Oncogene Fusion original-article Pathology Prognosis RNA-Binding Proteins - genetics Tumors Young Adult |
title | Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion: morphology, prognosis, and potential pitfall in detecting TFE3 gene rearrangement |
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