Cargando…

A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report

BACKGROUND: Abnormalities in homologous recombination contribute to the aggressive nature of castration-resistant prostate cancer. Retinoblastoma transcriptional corepressor 1 (RB1) and breast cancer 2 (BRCA2) exist close to each other in the same chromosome, and the significance of their concurrent...

Descripción completa

Detalles Bibliográficos
Autores principales: Iwasawa, Tomohiro, Kosaka, Takeo, Morita, Shinya, Mikami, Shuji, Nakamura, Kohei, Hongo, Hiroshi, Nishihara, Hiroshi, Oya, Mototsugu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208097/
https://www.ncbi.nlm.nih.gov/pubmed/35725469
http://dx.doi.org/10.1186/s12920-022-01286-w
_version_ 1784729667781001216
author Iwasawa, Tomohiro
Kosaka, Takeo
Morita, Shinya
Mikami, Shuji
Nakamura, Kohei
Hongo, Hiroshi
Nishihara, Hiroshi
Oya, Mototsugu
author_facet Iwasawa, Tomohiro
Kosaka, Takeo
Morita, Shinya
Mikami, Shuji
Nakamura, Kohei
Hongo, Hiroshi
Nishihara, Hiroshi
Oya, Mototsugu
author_sort Iwasawa, Tomohiro
collection PubMed
description BACKGROUND: Abnormalities in homologous recombination contribute to the aggressive nature of castration-resistant prostate cancer. Retinoblastoma transcriptional corepressor 1 (RB1) and breast cancer 2 (BRCA2) exist close to each other in the same chromosome, and the significance of their concurrent loss has become a hot topic in the field of cancer research. CASE PRESENTATION: A 61-year-old man presented with a chief complaint of a mass on his head and was diagnosed as multiple bone metastases from prostate cancer. He was treated with standard medication, but he died 2 years 6 months after being diagnosed with prostate cancer. Simultaneous biallelic loss of RB1 and BRCA2 as well as a truncating mutation of tumor protein p53 (TP53) were revealed by genomic analysis. CONCLUSION: To our knowledge, this is the first report of castration-resistant prostate cancer (CRPC) with BRCA2 and RB1 co-loss and TP53 mutation. To establish a treatment strategy for highly malignant cases with such multiple genetic features is important. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-022-01286-w.
format Online
Article
Text
id pubmed-9208097
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-92080972022-06-21 A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report Iwasawa, Tomohiro Kosaka, Takeo Morita, Shinya Mikami, Shuji Nakamura, Kohei Hongo, Hiroshi Nishihara, Hiroshi Oya, Mototsugu BMC Med Genomics Case Report BACKGROUND: Abnormalities in homologous recombination contribute to the aggressive nature of castration-resistant prostate cancer. Retinoblastoma transcriptional corepressor 1 (RB1) and breast cancer 2 (BRCA2) exist close to each other in the same chromosome, and the significance of their concurrent loss has become a hot topic in the field of cancer research. CASE PRESENTATION: A 61-year-old man presented with a chief complaint of a mass on his head and was diagnosed as multiple bone metastases from prostate cancer. He was treated with standard medication, but he died 2 years 6 months after being diagnosed with prostate cancer. Simultaneous biallelic loss of RB1 and BRCA2 as well as a truncating mutation of tumor protein p53 (TP53) were revealed by genomic analysis. CONCLUSION: To our knowledge, this is the first report of castration-resistant prostate cancer (CRPC) with BRCA2 and RB1 co-loss and TP53 mutation. To establish a treatment strategy for highly malignant cases with such multiple genetic features is important. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-022-01286-w. BioMed Central 2022-06-20 /pmc/articles/PMC9208097/ /pubmed/35725469 http://dx.doi.org/10.1186/s12920-022-01286-w Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Iwasawa, Tomohiro
Kosaka, Takeo
Morita, Shinya
Mikami, Shuji
Nakamura, Kohei
Hongo, Hiroshi
Nishihara, Hiroshi
Oya, Mototsugu
A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report
title A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report
title_full A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report
title_fullStr A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report
title_full_unstemmed A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report
title_short A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report
title_sort japanese case of castration-resistant prostate cancer with brca2 and rb1 co-loss and tp53 mutation: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208097/
https://www.ncbi.nlm.nih.gov/pubmed/35725469
http://dx.doi.org/10.1186/s12920-022-01286-w
work_keys_str_mv AT iwasawatomohiro ajapanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT kosakatakeo ajapanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT moritashinya ajapanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT mikamishuji ajapanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT nakamurakohei ajapanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT hongohiroshi ajapanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT nishiharahiroshi ajapanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT oyamototsugu ajapanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT iwasawatomohiro japanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT kosakatakeo japanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT moritashinya japanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT mikamishuji japanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT nakamurakohei japanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT hongohiroshi japanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT nishiharahiroshi japanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport
AT oyamototsugu japanesecaseofcastrationresistantprostatecancerwithbrca2andrb1colossandtp53mutationacasereport