Stolier Alan J, Fuhrman George M, Mauterer Lynnette, Bolton John S, Superneau Duane W
Department of Surgery, Louisiana State University, Baton Rouge, Louisiana, USA.
Breast J. 2004 Nov-Dec;10(6):475-80. doi: 10.1111/j.1075-122X.2004.21543.x.
Despite an abundance of information available for dealing with patients with BRCA-1 and BRCA-2 mutations, little guidance is available to assist the surgeon in dealing with the genetically high-risk patient recently diagnosed with breast cancer. A retrospective review was undertaken of 170 patients who underwent genetic counseling and testing over a 3-year period from March 2000 to March 2003. Forty-three of the 170 patients tested were diagnosed with breast cancer prior to genetic testing. Nine patients (20.9%) tested positive for a deleterious mutation. Fifty-eight percent underwent genetic counseling prior to definitive cancer surgery. Five of the 25 patients who underwent lumpectomy tested positive for a deleterious mutation. Testing results became available during systemic therapy or radiation was delayed until results were known. After counseling, all five patients testing positive went on to bilateral prophylactic mastectomy and reconstruction. None had radiation therapy. Because of a strong family history, eight patients elected to undergo prophylactic mastectomy and reconstruction prior to obtaining genetic test results; and despite compelling histories, all eight tested negative for a mutation. Treatment algorithms are developed to manage patients that are first discovered to be at high risk for a BRCA-1 or BRCA-2 mutation at the time they are diagnosed with breast cancer. Patients diagnosed with breast cancer who are discovered to be at high risk for a genetic mutation should undergo counseling prior to definitive surgery. This maximizes the time that patients have to consider options for prophylaxis and monitoring should their test be positive. It also prevents women who would otherwise be candidates for breast preservation from undergoing unnecessary radiation therapy should they chose prophylactic mastectomy in the face of a positive test.
尽管有大量信息可用于处理携带BRCA - 1和BRCA - 2突变的患者，但在协助外科医生处理最近被诊断为乳腺癌的遗传高危患者方面，可用的指导却很少。对2000年3月至2003年3月这3年期间接受遗传咨询和检测的170例患者进行了回顾性研究。170例接受检测的患者中有43例在基因检测前被诊断为乳腺癌。9例患者（20.9%）有害突变检测呈阳性。58%的患者在确定性癌症手术前接受了遗传咨询。接受肿块切除术的25例患者中有5例有害突变检测呈阳性。检测结果在全身治疗期间可用，或者放疗推迟到结果知晓后进行。咨询后，所有5例检测呈阳性的患者都进行了双侧预防性乳房切除术和重建。均未接受放疗。由于家族病史强烈，8例患者在获得基因检测结果之前选择了预防性乳房切除术和重建；尽管病史令人信服，但所有8例检测结果均为突变阴性。制定了治疗算法来管理那些在被诊断为乳腺癌时首次被发现有BRCA - 1或BRCA - 2突变高风险的患者。被诊断为乳腺癌且被发现有基因突变高风险的患者在确定性手术前应接受咨询。这样可以最大限度地增加患者在检测呈阳性时考虑预防和监测选项的时间。这也可以防止那些原本适合保乳的女性在检测呈阳性时选择预防性乳房切除术而接受不必要的放疗。
