J Korean Med Sci.  2017 Feb;32(2):377-381. 10.3346/jkms.2017.32.2.377.

Prostate Cancer in a Patient with a Family History of BRCA Mutation: a Case Report and Literature Review

• Song WH
• Kim SH
• Joung JY
• Park WS
• Seo HK
• Chung J
• Lee KH

• KMID: 2364186
• DOI: http://doi.org/10.3346/jkms.2017.32.2.377

Abstract

One of the most significant risk factors for prostate cancer (PC) is a family history of the disease, with germ-line mutations in the breast cancer predisposition gene (BRCA) 2 conferring the highest risk. We here report a 56-year-old man presented with painful gait disturbance and diagnosed PC with multiple disseminated bone metastases. The patient had a strong family history of breast cancer with his 2 nieces affected. Furthermore, his aunts and uncles from both sides were diagnosed with stomach, ovarian, and colorectal cancers. His genomic sequencing analysis of the BRCA genes revealed the same BRCA2 deleterious mutation that his breast cancer-affected nieces carried. Previous studies have suggested that BRCA2-mutated PC is associated with a more aggressive phenotype and poor prognosis. Our experience in the present case also indicated the urgent needs for novel treatment modality and PC screening in this high-risk group of patients.

Keyword

Prostate Cancer; BRCA; Genetic Mutation; Family History

MeSH Terms

Breast
Breast Neoplasms
Colorectal Neoplasms
Gait
Germ-Line Mutation
Humans
Mass Screening
Middle Aged
Neoplasm Metastasis
Phenotype
Prognosis
Prostate*
Prostatic Neoplasms*
Risk Factors
Stomach

Figure

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  Fig. 1 Preoperative prostate MRI and bone scan images. (A) Sagittal view; (B) horizontal view; (C) axial view of MRI of the prostate showing left side-dominant PC with extracapsular extension, seminal vesicle invasion, and enlarged left external and internal iliac lymph nodes; and (D) Disseminated bone metastasis in the whole axial and proximal appendicular bones. MRI = magnetic resonance imaging, PC = prostate cancer.

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  Fig. 2 Representative microphotographs of the prostate tumor. (A) Characteristic features of Gleason patterns 4 and 5, including fused glands and an almost complete loss of glandular lumina (H & E staining, [× 100]). (B) Immunohistochemical staining of BRCA2 (× 200). BRCA2 = breast cancer predisposition gene 2, H & E = hematoxylin and eosin.

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  Fig. 3 Pedigree. The patient's mother died from a car accident at 45 years of age. His first aunt died from ovarian cancer, and her son from biliary cancer. His second aunt died from colorectal cancer. The 2 daughters of his elder sister were diagnosed with breast cancer at 39 and 36 years of age, and their gene sequencing analyses revealed that both had BRCA2 mutation NM_000059.3:c.3744_3747delTGAG (p.Ser1248Argfs*10). BRCA2 = breast cancer predisposition gene 2.

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