Hoogerbrugge N, Kamm Y J L, Bult P, Landsbergen K M, Bongers E M H F, Brunner H G, Bonenkamp H J, de Hullu J A, Ligtenberg M J L, Boetes C
Department of Human Genetics, From the Hereditary Cancer Clinic, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Ann Oncol. 2008 Apr;19(4):655-9. doi: 10.1093/annonc/mdm537. Epub 2007 Dec 19.
To assess the false-positive rate of breast cancer surveillance by magnetic resonance imaging (MRI) in BRCA mutation carriers and the impact of an abnormal mammography or breast MRI on the patients' decision for prophylactic mastectomy.
A total of 196 BRCA mutation carriers were included with a median follow-up of 2 years (range 1-9) with annual mammography and MRI. Preference for prophylactic mastectomy was registered at first surveillance after the mutation carriership was revealed.
In all, 41% (81 of 196) of the women had at least one positive MRI or mammography. Malignancy was detected in 17 women: 11 at surveillance, 4 at an intended prophylactic mastectomy and 2 had an interval cancer. Imaging by mammography and MRI had a sensitivity of 71% and a specificity of 90%. The probability that a positive MRI result is false positive was 83%. In the group with a prior preference for mastectomy with and without a false-positive imaging, prophylactic mastectomy was carried out in 89% and 66%, respectively (P = 0.06), in the group with prior preference for surveillance these percentages were 15% and 11%, respectively (P = 0.47).
Although the rate of false-positive MRI results is high, the impact on the choice for prophylactic mastectomy is limited and is determined by the woman's preference before the establishment of a BRCA mutation.
评估磁共振成像（MRI）对BRCA突变携带者进行乳腺癌监测的假阳性率，以及乳腺X线摄影或乳腺MRI异常对患者预防性乳房切除术决策的影响。
共纳入196名BRCA突变携带者，中位随访时间为2年（范围1 - 9年），每年进行乳腺X线摄影和MRI检查。在发现突变携带者身份后的首次监测时记录对预防性乳房切除术的偏好。
总体而言，41%（196名中的81名）女性至少有一次MRI或乳腺X线摄影结果为阳性。17名女性检测到恶性肿瘤：11名在监测时发现，4名在计划的预防性乳房切除术中发现，2名有间隔期癌症。乳腺X线摄影和MRI成像的敏感性为71%，特异性为90%。MRI结果为阳性但为假阳性的概率为83%。在之前倾向于乳房切除术的组中，无论有无假阳性成像，分别有89%和66%进行了预防性乳房切除术（P = 0.06）；在之前倾向于监测的组中，这些百分比分别为15%和11%（P = 0.47）。
尽管MRI结果的假阳性率很高，但对预防性乳房切除术选择的影响有限，且由女性在发现BRCA突变之前的偏好决定。
