Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma
BackgroundXp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) is a group of rare and highly heterogeneous renal cell carcinoma (RCC). The translocation involving TFE3 and different fusion partners lead to overexpression of the chimeric protein. The purpose of this study is to explore the clinico...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-02-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1116648/full |
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| author | Wei Guo Wei Guo Yiqi Zhu Xiaohong Pu Hongqian Guo Weidong Gan Weidong Gan |
| author_facet | Wei Guo Wei Guo Yiqi Zhu Xiaohong Pu Hongqian Guo Weidong Gan Weidong Gan |
| author_sort | Wei Guo |
| collection | DOAJ |
| description | BackgroundXp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) is a group of rare and highly heterogeneous renal cell carcinoma (RCC). The translocation involving TFE3 and different fusion partners lead to overexpression of the chimeric protein. The purpose of this study is to explore the clinicopathological features of Xp11.2 tRCC with four common fusion subtypes.MethodsWe screened out 40 Xp11.2 tRCC patients from January 2007 to August 2021 in our institution. The diagnosis was initially confirmed by TFE3 immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) assay and their fusion partners were verified by RNA sequencing. Then the 40 cases were divided into two groups (DBHS family and non-DBHS family group) and a clinical comparison among the four common fusion subtypes was performed.ResultsAmong the 40 cases, 11 cases with SFPQ-TFE3 gene fusion and 7 cases with NONO-TFE3 gene fusion were classified in DBHS group, the remaining cases with ASPL-TFE3 (11 cases) or PRCC-TFE3 (11 cases) gene fusion were classified in non-DBHS group. Lymph node (LN) metastasis (P=0.027) and distant metastasis (P=0.009) were more common seen in non-DBHS family group than DBHS family group and cases in DBHS family group have better progressive-free survival (PFS) (P=0.02). In addition, ASPL-TFE3 fusion was associated with worse outcome (P=0.03) while NONO-TFE3 fusion (P=0.04) predicted a better prognosis.ConclusionsDifferent fusion partner genes may play a functional role in various morphology, molecular and biological features of Xp11.2 tRCCs. The impact of fusion partners on clinical characteristics of Xp11.2 tRCCs deserves further exploration. |
| first_indexed | 2024-04-10T17:44:14Z |
| format | Article |
| id | doaj.art-68eea2b228694689a0b9627967c96624 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-10T17:44:14Z |
| publishDate | 2023-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-68eea2b228694689a0b9627967c966242023-02-03T05:05:18ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-02-011310.3389/fonc.2023.11166481116648Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinomaWei Guo0Wei Guo1Yiqi Zhu2Xiaohong Pu3Hongqian Guo4Weidong Gan5Weidong Gan6Department of Urology, Drum Tower Clinical Medical School of Nanjing Medical University, Nanjing, Jiangsu, ChinaDepartment of Urology, Taizhou People’s Hospital Affiliated to Nanjing Medical University, Taizhou, Jiangsu, ChinaDepartment of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, ChinaDepartment of Pathology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, ChinaDepartment of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, ChinaDepartment of Urology, Drum Tower Clinical Medical School of Nanjing Medical University, Nanjing, Jiangsu, ChinaDepartment of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, ChinaBackgroundXp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) is a group of rare and highly heterogeneous renal cell carcinoma (RCC). The translocation involving TFE3 and different fusion partners lead to overexpression of the chimeric protein. The purpose of this study is to explore the clinicopathological features of Xp11.2 tRCC with four common fusion subtypes.MethodsWe screened out 40 Xp11.2 tRCC patients from January 2007 to August 2021 in our institution. The diagnosis was initially confirmed by TFE3 immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) assay and their fusion partners were verified by RNA sequencing. Then the 40 cases were divided into two groups (DBHS family and non-DBHS family group) and a clinical comparison among the four common fusion subtypes was performed.ResultsAmong the 40 cases, 11 cases with SFPQ-TFE3 gene fusion and 7 cases with NONO-TFE3 gene fusion were classified in DBHS group, the remaining cases with ASPL-TFE3 (11 cases) or PRCC-TFE3 (11 cases) gene fusion were classified in non-DBHS group. Lymph node (LN) metastasis (P=0.027) and distant metastasis (P=0.009) were more common seen in non-DBHS family group than DBHS family group and cases in DBHS family group have better progressive-free survival (PFS) (P=0.02). In addition, ASPL-TFE3 fusion was associated with worse outcome (P=0.03) while NONO-TFE3 fusion (P=0.04) predicted a better prognosis.ConclusionsDifferent fusion partner genes may play a functional role in various morphology, molecular and biological features of Xp11.2 tRCCs. The impact of fusion partners on clinical characteristics of Xp11.2 tRCCs deserves further exploration.https://www.frontiersin.org/articles/10.3389/fonc.2023.1116648/fullXp11.2 translocation renal cell carcinomaTFE3FISHDBHS familyprognosis |
| spellingShingle | Wei Guo Wei Guo Yiqi Zhu Xiaohong Pu Hongqian Guo Weidong Gan Weidong Gan Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma Frontiers in Oncology Xp11.2 translocation renal cell carcinoma TFE3 FISH DBHS family prognosis |
| title | Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma |
| title_full | Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma |
| title_fullStr | Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma |
| title_full_unstemmed | Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma |
| title_short | Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma |
| title_sort | clinical and pathological heterogeneity of four common fusion subtypes in xp11 2 translocation renal cell carcinoma |
| topic | Xp11.2 translocation renal cell carcinoma TFE3 FISH DBHS family prognosis |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2023.1116648/full |
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