Cargando…
An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report
BACKGROUND: Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data. CASE PRESENTATION: Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1)...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062893/ https://www.ncbi.nlm.nih.gov/pubmed/27733182 http://dx.doi.org/10.1186/s13000-016-0551-x |
_version_ | 1782459869274570752 |
---|---|
author | Yu, Lu Li, Jun Xu, Sanpeng Navia Miranda, Mariajose Wang, Guoping Duan, Yaqi |
author_facet | Yu, Lu Li, Jun Xu, Sanpeng Navia Miranda, Mariajose Wang, Guoping Duan, Yaqi |
author_sort | Yu, Lu |
collection | PubMed |
description | BACKGROUND: Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data. CASE PRESENTATION: Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1) inactivation in a 40-year-old man with end-stage kidney disease. The histological examination of the dissected left renal tumor showed an organoid architecture of the eosinophilic or clear neoplastic cells with necrosis and high mitotic activity. In some areas, non-adhesive tumor cells with eccentric nuclei were observed. Immunohistochemically (IHC), the tumor cells are positive for TFE3 and the renal tubular markers (PAX2 and PAX8), and completely negative for SMARCB1, an oncosuppressor protein. Break-apart florescence in situ hybridization and reverse transcription polymerase chain reaction confirmed TFE3 rearrangement on Xp11.2 and the presence of ASPSCR1-TFE3 fusion gene. DNA sequencing revealed a frameshift mutation in exon 4 of SMARCB1 gene. CONCLUSION: It is important to recognize this rare RCC with both TFE3 rearrangement and SMARCB1 inactivation, as the prognosis and therapeutic strategies, particularly targeted therapies for such tumors, might be different. |
format | Online Article Text |
id | pubmed-5062893 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-50628932016-10-24 An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report Yu, Lu Li, Jun Xu, Sanpeng Navia Miranda, Mariajose Wang, Guoping Duan, Yaqi Diagn Pathol Case Report BACKGROUND: Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data. CASE PRESENTATION: Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1) inactivation in a 40-year-old man with end-stage kidney disease. The histological examination of the dissected left renal tumor showed an organoid architecture of the eosinophilic or clear neoplastic cells with necrosis and high mitotic activity. In some areas, non-adhesive tumor cells with eccentric nuclei were observed. Immunohistochemically (IHC), the tumor cells are positive for TFE3 and the renal tubular markers (PAX2 and PAX8), and completely negative for SMARCB1, an oncosuppressor protein. Break-apart florescence in situ hybridization and reverse transcription polymerase chain reaction confirmed TFE3 rearrangement on Xp11.2 and the presence of ASPSCR1-TFE3 fusion gene. DNA sequencing revealed a frameshift mutation in exon 4 of SMARCB1 gene. CONCLUSION: It is important to recognize this rare RCC with both TFE3 rearrangement and SMARCB1 inactivation, as the prognosis and therapeutic strategies, particularly targeted therapies for such tumors, might be different. BioMed Central 2016-10-12 /pmc/articles/PMC5062893/ /pubmed/27733182 http://dx.doi.org/10.1186/s13000-016-0551-x Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Yu, Lu Li, Jun Xu, Sanpeng Navia Miranda, Mariajose Wang, Guoping Duan, Yaqi An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report |
title | An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report |
title_full | An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report |
title_fullStr | An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report |
title_full_unstemmed | An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report |
title_short | An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report |
title_sort | xp11.2 translocation renal cell carcinoma with smarcb1 (ini1) inactivation in adult end-stage renal disease: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062893/ https://www.ncbi.nlm.nih.gov/pubmed/27733182 http://dx.doi.org/10.1186/s13000-016-0551-x |
work_keys_str_mv | AT yulu anxp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT lijun anxp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT xusanpeng anxp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT naviamirandamariajose anxp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT wangguoping anxp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT duanyaqi anxp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT yulu xp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT lijun xp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT xusanpeng xp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT naviamirandamariajose xp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT wangguoping xp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport AT duanyaqi xp112translocationrenalcellcarcinomawithsmarcb1ini1inactivationinadultendstagerenaldiseaseacasereport |