Ontology highlight
ABSTRACT: 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.
SUBMITTER: Iwasawa T
PROVIDER: S-EPMC9208097 | biostudies-literature | 2022 Jun
REPOSITORIES: biostudies-literature
Iwasawa Tomohiro T Kosaka Takeo T Morita Shinya S Mikami Shuji S Nakamura Kohei K Hongo Hiroshi H Nishihara Hiroshi H Oya Mototsugu M
BMC medical genomics 20220620 1
<h4>Background</h4>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.<h4>Case presentation</h4>A 61-year-old man presented with a chief complaint of a mass on his head and was diagnosed as multiple bon ...[more]