BRCA1 유전자 돌연변이가 있는 유방암 환자에서 시행한예방적반대편유방절제술및난소절제술1예

김구상,김새리,한상아,강은영,전용탁,하태현,허찬영,장미정,김선미,김지현,이규언,김성원 한국유방암학회 2008 Journal of breast cancer Vol.11 No.4

Risk-reducing surgery is known as the most powerful preventive strategy for BRCA mutation carriers. This current case report represents the first documentation of the contralateral prophylactic mastectomy (CPM) and bilateral salphingooophorectomy (BSO) in a carrier of BRCA mutation in Korea. The patient was a 39-year-old woman who was seen in at a genetic counseling clinic for discussing of risk-reducing strategies for the breast and ovarian cancer. She presented at the age of 38 year with a 1.5 cm sized, grade 3, and ER/PR/HER2 negative infiltrating ductal carcinoma of the right breast. She was treated with wide local excision of the right breast and sentinel lymph node biopsy of the axilla. She was then treated with CAF (Cyclophosphamide+Doxorubicin+5-Fluorouracil) chemotherapy and radiation therapy. She was initially counseled at the time of surgery due to the family history of her mother, who suffered with breast cancer at the age of 58. After the completion of chemotherapy, we received the genetic test results and it was positive for the BRCA1 mutation (3746_3747insA). After a long discussion of cancer surveillance and risk-reducing options, she decided to undergo ipsilateral mastectomy and CPM and BSO. Before surgery, psychiatric consultation was done and questionnaires evaluating her depression, anxiety, body image, quality of life, and psychological distress were filled out. After discussion with the plastic surgeon, she decided to undergo delayed reconstruction of the breast. We performed endoscopic bilateral skin-sparing mastectomy and a laparoscopic bilateral salphingo-oophorectomy. There was no complication after surgery and the pathologic examination revealed no evidence of cancer in both breasts and ovaries. We think that CPM and BSO are feasible risk-reducing options for the breast cancer patients with the BRCA mutation in Korea.

랑거 액와궁 (액와흉근) – 증례보고

김구상,한상아,김새리,임재영,김선미,장미정,한원식,노동영,김성원 한국유방암학회 2008 Journal of breast cancer Vol.11 No.2

The axillary arch of Langer (Axillopectoral muscle) is the most common anatomical variant of the axillary musculature. The incidence of the variant is about 7% or less in the population and despite the reported frequency, its presence has been rarely reported. A 33-year-old woman visited our institution due to the presence of a right breast mass and was diagnosed with right breast cancer by an ultrasound guided core biopsy. Previously, the patient had had no complaints of sensory and motor dysfunction of the right arm. The patient underwent a modified radical mastectomy and we identified an abnormal muscle that originated from the latissimus dorsi, and was inserted in the trilaminar tendon of the pectoralis major during axillary lymph node dissection. The muscle interfered the level I area due to its longitudinally oblique direction. We separated this muscle, and carefully dissected the medial axillary group and lateral axillary group. After follow-up for two years, there was no evidence of axillary recurrence, lymphedema or any limitation of motion of the right arm. We discuss the definition, clinical complications and clinical importance of the axillary arch of Langer. We report here the first case of axillary arch of Langer that was identified during surgery in Korea.

신생병원의 5년 유방암 치료 경험: 임상 데이터 웨어하우스를 이용한 분석

강은영,한상아,김새리,김선미,장미정,이희은,박소연,임재영,양은주,김인아,김유경,허찬영,김유정,김지현,김정현,김성원 한국유방암학회 2010 Journal of breast cancer Vol.13 No.1

Purpose: This study is to review the initial 5-years of breast cancer management in a single hospital using the clinical data warehouse (CDW). Methods: We reviewed the electronic medical records of 754 patients with breast cancer who were treated by a single surgeon between June 2003and December 2007 in Seoul National University Bundang Hospital. We analyzed the epidemiological, clinical and therapeutic profiles of the breast cancer patients which were encoded and stored at the CDW. Results: The mean age of the patients was 49.3 years and the peak incidence was in the fifth decade (36.6%). Symptomatic breast cancer was 74.6% and screening-detected breast cancer was 25.4%. Breast conserving surgery (BCS) was performed in 54.1% of all cases and the BCS rate increased annually. Immediate reconstruction after mastectomy was performed in 62 cases (17.7%). Sentinel lymph node (SLN) biopsy for nodal staging was performed in 501 cases (72.1%) and 160 cases (23.0%) underwent complete axillary lymph node dissection. The proportion of in situ and early stage invasive breast cancer was 85.0%. Six hundred and ninety three patients (92.5%)received more than one adjuvant therapy. Thirty one patients experienced local or systemic relapse after surgery and ipsilateral breast tumor recurrence (IBTR) occurred in 6 cases. The median follow-up period was 29.5 months. Two-year and 3-year disease-free survival rates were 95.9% and 94.4%. Conclusion: BCS and SLN biopsy continuously increased and immediate reconstruction after mastectomy was performed widely. Most patients received more than one adjuvant therapy. Moreover, we saved the time and human power to review the medical record by using the CDW.

BRCA 돌연변이 가계의 심리상태 및 삶의 질 평가

한상아(Sang Ah Han),김새리(Sairhee Kim),강은영(Eunyoung Kang),김정현(Jeong-Hyun Kim),하태현(Tae-Hyeon Ha),양은주(Eun Joo Yang),임재영(Jae-Young Lim),한원식(Wonshik Han),노동영(Dong-Young Noh),김성원(Sung-Won Kim) 대한의학유전학회 2010 대한의학유전학회지 Vol.7 No.1

목적 : 본 연구는 한국인 BRCA 유전자 돌연변이 가계구성원들을 대상으로 암진단 및 돌연변이 보유 여부가 심리 상태와 삶의 질에 미치는 영향을 알아보기 위해 시행되었다. 대상 및 방법 : BRCA 유전자 돌연변이를 가진 13가계에서 암에 이환된 보인자 17명, 이환되지 않은 보인자 16명, 건강한 비보인자 13명이 본 연구의 분석에 포함되었다. 이 세 군을 대상으로 우울, 불안, 낙관, 유전성 유방암관련 지식수준과 삶의 질을 설문을 통하여 평가하였다. 결과 : 설문시기는 유전자 검사 후 평균 21개월(6-35)로 세 군 간의 차이는 없었다(P=0.254). 세 군 간의 우울, 낙관, 육체적 삶의 질은 유사했다. 불안은 세 군 모두에서 일반인보다 상승되어 있었다. 이환된 보인자의 정신적 삶의 질은 암에 이환된 보인자가 다른 두 군에 비해 유의하게 낮았다(P=0.009, P=0.017). 다변량 분석 결과 정신적 삶의 질에 영향을 미친 인자는 암이환여부(P=0.043)와 직업유무(P=0.008) 였다. 결론 : 같은 돌연변이 가계 내에서 돌연변이 유무는 우울, 불안, 낙관에서 심리적반작용을 일으키지 않았으나, 돌연변이 가계 구성원의 불안 수준은 돌연변이 유무에 관계 없이 높았다. 본 연구는 소규모 표본을 대상으로 한 단면적 연구이나, BRCA 유전자 검사에 수반될 수 있는 심리적 스트레스 및 그에 대한 대처법을 수립하는 데 기초연구로 의의를 가진다. Purpose: The aims of this study are to evaluate psychological impact and quality of life according to the cancer diagnosis and mutation status in Korean families with BRCA mutations. Materials and Methods: Seventeen affected carriers (AC), 16 unaffected carriers (UC) and 13 healthy non carriers (NC) from 13 BRCA mutation families were included in the study. Outcomes were compared with regard to depression (Beck Depression Inventory), anxiety (State-Trait Anxiety Inventory, STAI), optimism (Reevaluation of the Life Orientation test, LOT-R), knowledge of hereditary ovarian cancer, and quality of life (QoL) (SF-36v2 Health Survey, physical component score [PCS], mental component score [MCS]) among three groups. Result: Level of depression, optimism, and PCS were similar in AC, UC, and NC. Anxiety score was elevated in all three groups. MCS was significantly low in AC than in UC and NC (P =0.009, P =0.017). Knowledge of hereditary breast and ovarian cancer was high in AC than NC (P =0.001). MCS was significantly related to whether patient was affected by cancer (P =0.043) and has occupation (P =0.008) or not in multivariable analysis. Conclusion: From this cross sectional study, psychological adverse effect was not related to the carrier status of BRCA mutation. Elevated anxiety in BRCA family members was observed but, independent to affection and the type of genetic mutation. AC showed low mental QoL. Further effort to understand psychological impact and QoL of genetic testing in BRCA family members is required for follow-up in clinical aspects.