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


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

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Publications

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

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]

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