A first Japanese case of neuroendocrine prostate cancer accompanied by lung and brain metastasis with somatic and germline BRCA2 mutation

Research output: Contribution to journalArticle

Abstract

Germline mutations and copy number changes in DNA damage repair (DDR) genes such as BRCA2 are associated with aggressive forms of prostate cancer (PCa). Although the prevalence of BRCA2 variants in PCa is increasing in Japan, the genomic and biological implications in Japanese patients are unclear. An 81-year-old male presented with prostatic adenocarcinoma with neuroendocrine differentiation accompanied by metastatic lung nodule and brain metastases. Platinum-based doublet chemotherapy combined with etoposide resulted in partial and complete remissions of brain and lung metastases, respectively. Next-generation sequencing of biopsy and peripheral blood samples demonstrated a somatic BRCA2 mutation at c.7008-2A>C and a germline mutation at p.E2877*. The patient's son had been diagnosed with breast cancer 2.5 years ago and was found to have the same germline BRCA2 mutation. BRCA2 mutation increases the risks of aggressive PCa and other cancer types in Japanese males. These forms may be highly responsive to platinum-based chemotherapy.

Original languageEnglish
JournalPathology international
DOIs
Publication statusAccepted/In press - 2019 Jan 1

Fingerprint

Germ-Line Mutation
Brain Neoplasms
Lung Neoplasms
Prostatic Neoplasms
Neoplasm Metastasis
Platinum
Drug Therapy
Lung
Mutation
Brain
Etoposide
Nuclear Family
DNA Repair
DNA Damage
Japan
Adenocarcinoma
Breast Neoplasms
Biopsy
Genes
Neoplasms

Keywords

  • BRCA2
  • DNA damage repair genes
  • NEPC
  • platinum-based chemotherapy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

@article{03bee58cb60746c0bda841ce2cf579d1,
title = "A first Japanese case of neuroendocrine prostate cancer accompanied by lung and brain metastasis with somatic and germline BRCA2 mutation",
abstract = "Germline mutations and copy number changes in DNA damage repair (DDR) genes such as BRCA2 are associated with aggressive forms of prostate cancer (PCa). Although the prevalence of BRCA2 variants in PCa is increasing in Japan, the genomic and biological implications in Japanese patients are unclear. An 81-year-old male presented with prostatic adenocarcinoma with neuroendocrine differentiation accompanied by metastatic lung nodule and brain metastases. Platinum-based doublet chemotherapy combined with etoposide resulted in partial and complete remissions of brain and lung metastases, respectively. Next-generation sequencing of biopsy and peripheral blood samples demonstrated a somatic BRCA2 mutation at c.7008-2A>C and a germline mutation at p.E2877*. The patient's son had been diagnosed with breast cancer 2.5 years ago and was found to have the same germline BRCA2 mutation. BRCA2 mutation increases the risks of aggressive PCa and other cancer types in Japanese males. These forms may be highly responsive to platinum-based chemotherapy.",
keywords = "BRCA2, DNA damage repair genes, NEPC, platinum-based chemotherapy",
author = "Takeo Kosaka and Hiroshi Hongo and Eriko Aimono and Kazuhiro Matsumoto and Tetsu Hayashida and Shuji Mikami and Hiroshi Nishihara and Mototsugu Oya",
year = "2019",
month = "1",
day = "1",
doi = "10.1111/pin.12860",
language = "English",
journal = "Pathology International",
issn = "1320-5463",
publisher = "Wiley-Blackwell",

}

TY - JOUR

T1 - A first Japanese case of neuroendocrine prostate cancer accompanied by lung and brain metastasis with somatic and germline BRCA2 mutation

AU - Kosaka, Takeo

AU - Hongo, Hiroshi

AU - Aimono, Eriko

AU - Matsumoto, Kazuhiro

AU - Hayashida, Tetsu

AU - Mikami, Shuji

AU - Nishihara, Hiroshi

AU - Oya, Mototsugu

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Germline mutations and copy number changes in DNA damage repair (DDR) genes such as BRCA2 are associated with aggressive forms of prostate cancer (PCa). Although the prevalence of BRCA2 variants in PCa is increasing in Japan, the genomic and biological implications in Japanese patients are unclear. An 81-year-old male presented with prostatic adenocarcinoma with neuroendocrine differentiation accompanied by metastatic lung nodule and brain metastases. Platinum-based doublet chemotherapy combined with etoposide resulted in partial and complete remissions of brain and lung metastases, respectively. Next-generation sequencing of biopsy and peripheral blood samples demonstrated a somatic BRCA2 mutation at c.7008-2A>C and a germline mutation at p.E2877*. The patient's son had been diagnosed with breast cancer 2.5 years ago and was found to have the same germline BRCA2 mutation. BRCA2 mutation increases the risks of aggressive PCa and other cancer types in Japanese males. These forms may be highly responsive to platinum-based chemotherapy.

AB - Germline mutations and copy number changes in DNA damage repair (DDR) genes such as BRCA2 are associated with aggressive forms of prostate cancer (PCa). Although the prevalence of BRCA2 variants in PCa is increasing in Japan, the genomic and biological implications in Japanese patients are unclear. An 81-year-old male presented with prostatic adenocarcinoma with neuroendocrine differentiation accompanied by metastatic lung nodule and brain metastases. Platinum-based doublet chemotherapy combined with etoposide resulted in partial and complete remissions of brain and lung metastases, respectively. Next-generation sequencing of biopsy and peripheral blood samples demonstrated a somatic BRCA2 mutation at c.7008-2A>C and a germline mutation at p.E2877*. The patient's son had been diagnosed with breast cancer 2.5 years ago and was found to have the same germline BRCA2 mutation. BRCA2 mutation increases the risks of aggressive PCa and other cancer types in Japanese males. These forms may be highly responsive to platinum-based chemotherapy.

KW - BRCA2

KW - DNA damage repair genes

KW - NEPC

KW - platinum-based chemotherapy

UR - http://www.scopus.com/inward/record.url?scp=85074367232&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85074367232&partnerID=8YFLogxK

U2 - 10.1111/pin.12860

DO - 10.1111/pin.12860

M3 - Article

C2 - 31631483

AN - SCOPUS:85074367232

JO - Pathology International

JF - Pathology International

SN - 1320-5463

ER -