内容紹介
Summary
We report a case of a patient with early-onset breast cancer who decided to undergo adaptation for breast-conserving surgery based on the results of genetic testing. A 25-year-old woman became aware of a lump in her left breast and visited a nearby hospital, where she was diagnosed with breast cancer. She has no personal history. Her paternal grandfather was diagnosed with rectal cancer at age 60. Ultrasonography revealed an irregularly-shaped hypoechoic mass measuring 3.8 cm in the C area of her left breast and an enlarged lymph node 2.0 cm in diameter in the left axillary area. The breast tumor was pathologically diagnosed as invasive ductal carcinoma by core needle biopsy and was immunohistochemically characterized as ER(-), PgR(-), and HER2(-), so-called triple negative. Moreover, lymph node metastasis was confirmed by fine needle aspiration cytology. She underwent neoadjuvant chemotherapy and achieved a clinical complete response. A woman with early-onset triple negative breast cancer has a high probability of hereditary breast and ovarian cancer, with a high risk of ipsilateral second breast cancer after conserving surgery. Thus, BRCA genetic testing may be necessary before surgery. As no pathogenic mutation was found in BRCA 1/2 in this case, the patient underwent breast-conserving surgery followed by radiation therapy for the conserved breast. The patient remained healthy and without any recurrence 4 years and 2 months after surgery.
要旨
遺伝学的検査によって乳房温存療法の適応を決定した若年性乳癌の1例を経験した。症例は25歳,女性。左乳房腫瘤で近医を受診し,左乳癌の診断で当科紹介となった。既往症に特記事項はなし。家族歴は,父方祖父が60歳時に直腸癌を認めた。乳腺エコーで左C領域に3.8 cmの不整形腫瘤と左腋窩に2.0 cmの腫大したリンパ節を認めた。針生検で浸潤性乳管癌と診断され,穿刺吸引細胞診でリンパ節転移を確認した。cT2N1M0,Stage ⅡBで,免疫染色はER(-),PgR(-),HER2(-)のtriple negative乳癌(TNBC)であった。術前化学療法(NAC)を行い,臨床的完全奏効(CR)を得た。若年のTNBCは第二乳癌のリスクがある遺伝性乳がん・卵巣がん(HBOC)の可能性が高く,乳房温存が相対的禁忌となっている。術式決定のため遺伝学的検査を行いBRCAの病的変異は認めなかった。乳房部分切除術+腋窩リンパ節郭清術を行い,術後温存乳房照射を行った。現在術後4年2か月経過し,再発の兆候なく外来通院加療中である。
目次
We report a case of a patient with early-onset breast cancer who decided to undergo adaptation for breast-conserving surgery based on the results of genetic testing. A 25-year-old woman became aware of a lump in her left breast and visited a nearby hospital, where she was diagnosed with breast cancer. She has no personal history. Her paternal grandfather was diagnosed with rectal cancer at age 60. Ultrasonography revealed an irregularly-shaped hypoechoic mass measuring 3.8 cm in the C area of her left breast and an enlarged lymph node 2.0 cm in diameter in the left axillary area. The breast tumor was pathologically diagnosed as invasive ductal carcinoma by core needle biopsy and was immunohistochemically characterized as ER(-), PgR(-), and HER2(-), so-called triple negative. Moreover, lymph node metastasis was confirmed by fine needle aspiration cytology. She underwent neoadjuvant chemotherapy and achieved a clinical complete response. A woman with early-onset triple negative breast cancer has a high probability of hereditary breast and ovarian cancer, with a high risk of ipsilateral second breast cancer after conserving surgery. Thus, BRCA genetic testing may be necessary before surgery. As no pathogenic mutation was found in BRCA 1/2 in this case, the patient underwent breast-conserving surgery followed by radiation therapy for the conserved breast. The patient remained healthy and without any recurrence 4 years and 2 months after surgery.
要旨
遺伝学的検査によって乳房温存療法の適応を決定した若年性乳癌の1例を経験した。症例は25歳,女性。左乳房腫瘤で近医を受診し,左乳癌の診断で当科紹介となった。既往症に特記事項はなし。家族歴は,父方祖父が60歳時に直腸癌を認めた。乳腺エコーで左C領域に3.8 cmの不整形腫瘤と左腋窩に2.0 cmの腫大したリンパ節を認めた。針生検で浸潤性乳管癌と診断され,穿刺吸引細胞診でリンパ節転移を確認した。cT2N1M0,Stage ⅡBで,免疫染色はER(-),PgR(-),HER2(-)のtriple negative乳癌(TNBC)であった。術前化学療法(NAC)を行い,臨床的完全奏効(CR)を得た。若年のTNBCは第二乳癌のリスクがある遺伝性乳がん・卵巣がん(HBOC)の可能性が高く,乳房温存が相対的禁忌となっている。術式決定のため遺伝学的検査を行いBRCAの病的変異は認めなかった。乳房部分切除術+腋窩リンパ節郭清術を行い,術後温存乳房照射を行った。現在術後4年2か月経過し,再発の兆候なく外来通院加療中である。