Is there a specific magnetic resonance phenotype characteristic of hereditary breast cancer?

AIMS AND BACKGROUND: The aim of the study was to investigate the growth rate of inherited breast cancer, to analyze its T2 signal intensity besides kinetic and morphologic aspects, and to verify whether there is any correlation between magnetic resonance imaging phenotype and BRCA status. METHODS: Between June 2000 and September 2009, we enrolled 227 women at high genetic risk for breast cancer in a surveillance program, within a multicenter project of the Istituto Superiore di Sanità (Rome). RESULTS: Thirty-four cancers were detected among 31 subjects. One patient refused magnetic resonance imaging because of claustrophobia. Compared with sporadic disease, hereditary cancer showed some differences, in terms of biologic attitude and semeiotic patterns. These differences were mainly registered for magnetic resonance imaging, where the most frequent radiological variant was represented by the very high T2 signal intensity (73%). Moreover, the size of 8 of the neoplasms showed a significant increase in less than one year, 5 of them in less than 6 months. Six lesions were in BRCA1 patients and the remaining in BRCA2. Furthermore, cancers with a high growth rate also demonstrated a significant increment in T2 signal intensity. CONCLUSIONS: Our results confirmed the high growth rate within BRCA-related breast cancers, especially for BRCA1 mutation carriers. In our experience, we found a specific imaging phenotype, represented by the high T2 signal intensity of hereditary breast cancer. To our knowledge, this is the first report that points out this new semeiotic parameter, which is usually typical of benign lesions. Considering the correlation between high growth rate and high T2 signal intensity, the former seems to be related to the absence of induction of a desmoplastic reaction that could somehow restrict cancer growth.

Role of sonoelastography in non-palpable breast lesions.

The purpose of this study was to evaluate the diagnostic utility of sonoelastography in differentiating benign from malignant non-palpable breast lesions. A total of 293 BI-RADS 3-5 (Breast Imaging Reporting And Data System) impalpable breast lesions in 278 women was evaluated with B-mode ultrasound (US) and subsequently with sonoelastography (SE) before performing US-guided biopsy. Among the 293 lesions (size up to 2 cm), 110 (37.5%) were histologically malignant and 183 (62.5%) benign. Lesions that were malignant or showed atypical ductal hyperplasia were referred for surgical excision, as well as 32 benign lesions showing discordance between US/SE results and histology. All other benign lesions had US follow-up at 6/12 months, showing stability. Overall performance of SE was lower than US, with sensitivity and specificity of 80% and 80.9%, respectively, for SE as compared with 95.4% and 87.4% for US. Statistical analysis showed no improvement in the joint use of SE and US over the use of US alone, whose performance, however, was very high in our study. SE is a simple, fast and non-invasive diagnostic method that may be a useful aid to US for less experienced radiologists in the assessment of solid non-palpable breast lesions, especially BI-RADS 3, where specificity was higher (88.7%).

Psychological assessment of women on an early breast screening program after radiotherapy to the chest wall for childhood cancer.

AIMS AND BACKGROUND: This study investigates the psychological status in a population of female patients who received chest irradiation for a childhood cancer and were screened for second primary breast cancer. METHODS: Sixty-eight consecutive such young women were included. Compilation of the Crown-Crisp Index questionnaire was requested and 49/68 patients accepted to fill it in; 14 women in the sample had children (28%). RESULTS: Twenty-seven of 49 patients achieved a normal score, whereas in 22 the score was slightly above the normal range in at least one scale. Pathological scores were more frequent among the women without children. CONCLUSION: Quality of life in this series of long-term survivors does not seem to be severely affected by previous treatment for cancer nor by the concern for the onset of a second primary malignancy.

MRI in the early detection of breast cancer in women with high genetic risk.

AIMS AND BACKGROUND: Women with BRCA1 or BRCA2 germline mutations have an elevated risk of developing breast and/or ovarian cancer. Because of the early onset of the disease, screening of this group of women should start at an earlier age than in the general population. The association of breast magnetic resonance imaging (BMRI) and ultrasonography (US) with mammography (MX) and clinical breast examination (CBE) in the regular surveillance of these individuals has been proposed and seems to improve the early detection of breast cancer. METHODS: Within a multicenter study started by the Istituto Superiore di Sanità (Rome), at the Istituto Nazionale Tumori of Milan (INT) we enrolled 116 women at high genetic risk for breast cancer; they were either BRCA1 or BRCA2 mutation carriers or had a strong family history of breast cancer. They underwent CBE, MX, US and BMRI once a year. RESULTS: Between June 2000 and April 2005, at INT 12 cancers were detected among the 116 screened individuals (10%). In this subgroup, 1 patient refused BMRI and in 2 cases US was not performed. With BMRI we found 11 cancers and 6 of them were detectable only by this technique. In these 6 cases, the size of the disease was less than 1 cm and MX was false negative due to irregularly nodular parenchyma in 4 cases and scar tissue or prosthesis in the other 2. US was not performed in 2 cases and was false negative in 4 cases. Three false positive results were found with BMRI: 1 case was considered suspect but related to hormonal influences; 1 case with the same pattern was sent for second-look US, which gave a negative result and BMRI review after 6 months showed normalization of the parenchyma; in the third case histology revealed the presence of adenosis. No false positive results were registered for MX. CONCLUSIONS: The aim of secondary prevention is the detection of cancer at its earliest stage. BMRI screening in women with BRCA1 or BRCA2 mutations or at high familiar risk appears to be highly sensitive and may detect mammographically occult disease. The accuracy of MR imaging is higher than that of conventional imaging but the technique is flawed by a lower specificity. In order to avoid unnecessary biopsies we believe that the combination of BMRI and conventional imaging can be very useful in screening women with a high genetic risk of breast cancer, especially with second-look evaluation by means of US when BMRI yields the only positive diagnostic result. Second-look US has been demonstrated to be of critical importance both in recognizing false positive BMRI results and in guiding biopsies, when necessary.

Breast microcalcifications studied with 3D contrast-enhanced high-field magnetic resonance imaging: more accuracy in the diagnosis of breast cancer.

AIMS: To evaluate the reliability of magnetic resonance imaging (MRI) performed with three-dimensional (3D) sequences in mammographically detected breast microcalcifications. METHODS: During an 8-month period, a group of 28 patients with mammographically detected microcalcifications suspicious for malignancy underwent MRI. Their ages ranged from 33 to 65 years. Examinations were performed with a 1.5 Tesia MR unit and a 3D T1 weighted sequence. Images were interpreted on the basis of morphologic parameters and dynamic behavior in the uptake of contrast medium (Gd-DTPA). Histologic findings were considered as the gold reference. RESULTS: Histologic analysis revealed invasive carcinoma in 7 patients, 3 of which were associated with foci of lobular carcinoma in situ. Intraductal carcinoma was diagnosed in 8 patients, 1 of which was associated with a tubular carcinoma. Benign lesions accounted for 13 patients. All the neoplastic conditions showed enhancement on MR images (sensitivity, 100%), whereas early and intense enhancement was noted in 5 of 13 benign lesions (specificity, 61%). The positive predictive value was 75% and negative predictive value, 100%. CONCLUSIONS: Although an overlap in the enhancement behavior of malignant and some benign lesions is clearly evident, a careful interpretation of MR images is helpful in detecting and mainly ruling out breast cancer combined with mammographically suspicious microcalcifications.

Breast MRI screening in patients with increased familial and/or genetic risk for breast cancer: a preliminary experience.

AIMS AND BACKGROUND: Breast cancer is the most common cancer affecting women, and it is associated with or due to a genetic predisposition in 5%-10% of the cases. Owing to the higher risk of developing breast cancer and the early onset of the disease in women proved or suspected to be carriers of a breast cancer susceptibility gene, a dedicated screening should be offered as a less invasive approach with the otherwise suggested prophylactic mastectomy. This should be optimized in order to overcome the limitations of conventional breast imaging with the application of new technologies such as breast magnetic resonance imaging. METHODS: A diagnostic protocol for routine control in patients at high risk of developing breast cancer has been prepared. Within a 7-month period, 23 patients suspected or proved to carry a breast cancer susceptibility gene underwent breast magnetic resonance imaging. RESULTS: Four breast cancers were identified with breast magnetic resonance imaging. In these cases, mammography was negative because of the density of the parenchyma or for its fibroglandular pattern. Ultrasound was negative in 2 cases, not specific for malignancy in 1 case, and considered as only possibly malignant but with biopsy recommendation on the basis of magnetic resonance findings in the last one. Clinical analysis was positive for a mass in 2 cases. CONCLUSIONS: The accuracy of breast magnetic resonance imaging is known to be higher than that of conventional imaging in the study of breast parenchyma. High spatial resolution, no breast density influence and multiplanarity can give more detailed information about the smaller lesions and the right extension of the disease. Preliminary studies where breast magnetic resonance imaging is performed in addition to mammography within this group of patients are encouraging. We also believe that the application of breast magnetic resonance imaging can be very useful in the detection of cancer as early as possible with the aim to obtain the highest chance of survival after treatment.

Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results.

OBJECTIVES: : To prospectively compare clinical breast examination, mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (MRI) in a multicenter surveillance of high-risk women. MATERIALS AND METHODS: : We enrolled asymptomatic women aged ≥ 25: BRCA mutation carriers; first-degree relatives of BRCA mutation carriers, and women with strong family history of breast/ovarian cancer, including those with previous personal breast cancer. RESULTS: : A total of 18 centers enrolled 501 women and performed 1592 rounds (3.2 rounds/woman). Forty-nine screen-detected and 3 interval cancers were diagnosed: 44 invasive, 8 ductal carcinoma in situ; only 4 pT2 stage; 32 G3 grade. Of 39 patients explored for nodal status, 28 (72%) were negative. Incidence per year-woman resulted 3.3% overall, 2.1% <50, and 5.4% ≥ 50 years (P < 0.001), 4.3% in women with previous personal breast cancer and 2.5% in those without (P = 0.045). MRI was more sensitive (91%) than clinical breast examination (18%), mammography (50%), ultrasonography (52%), or mammography plus ultrasonography (63%) (P < 0.001). Specificity ranged 96% to 99%, positive predictive value 53% to 71%, positive likelihood ratio 24 to 52 (P not significant). MRI showed significantly better negative predictive value (99.6) and negative likelihood ratio (0.09) than those of the other modalities. At receiver operating characteristic analysis, the area under the curve of MRI (0.97) was significantly higher than that of mammography (0.83) or ultrasonography (0.82) and not significantly increased when MRI was combined with mammography and/or ultrasonography. Of 52 cancers, 16 (31%) were diagnosed only by MRI, 8 of 21 (38%) in women <50, and 8 of 31 (26%) in women ≥ 50 years of age. CONCLUSION: : MRI largely outperformed mammography, ultrasonography, and their combination for screening high-risk women below and over 50.