Ductal Carcinoma &lt;i&gt;in situ&lt;/i&gt; Detected during Prospective MR Imaging Screening of a Woman with a BRCA2 Mutation: The First Case Report in Japan

Tozaki, Mitsuhiro; Nakamura, Seigo; Kitagawa, Dai; Iwase, Takuji; Horii, Rie; Akiyama, Futoshi; Arai, Masami

doi:10.2463/mrms.cr.2016-0090

Cited by 7 publications

(3 citation statements)

References 12 publications

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“…On the other hand, the third case was visible on second-look US and diagnosed by US-guided biopsy. A similar such case of HBOC surveillance was reported by Tozaki et al [7]. These two cases will be part of a larger surveillance study, which is supported by the Health Labor Science Research Grant and is still ongoing.…”

Section: Discussionsupporting

confidence: 74%

The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan

Murakami

Tozaki²,

Nakamura

et al. 2019

Breast Cancer

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Background There is no consensus on the appropriate surveillance for high-risk women with breast cancer in Japan. We investigated their imaging features and pathological characteristics to build a proper surveillance system for asymptomatic high-risk individuals in the future. Methods We retrospectively reviewed 93 female (median age 43 years) BRCA1 and BRCA2 mutation carriers from our institutional clinical database from 2011 to 2017. The study population was composed of 112 breast cancers. Mammography and MRI were reviewed by examiners blinded to patients’ clinical history. Final surgical or biopsy histopathology served as the reference standard in all the patients. Results Fifty-nine breast cancers met selection criteria; of these, 30 were BRCA1-associated tumors, and 29 were BRCA2-associated tumors. Invasive ductal carcinoma was the most prevalent type in both BRCA1 and BRCA2. There were statistically significant differences in phenotype, nuclear grade, and Ki-67 labeling index between BRCA1 and BRCA2 mutation carriers. Additionally, imaging findings on mammography and MRI were statistically different. Tumors in BRCA2 carriers demonstrated mammographic calcifications more frequently, while those in BRCA1 carriers demonstrated a mass or architectural distortion ( P < 0.001). Enhancement pattern on MRI also significantly differed between the two subgroups ( P = 0.006). The size of MRI-detected lesions was statistically smaller than the size of those detected by other modalities ( P = 0.004). Conclusions The imaging and histological characteristics of BRCA1/2 mutation carriers were consistent with other countries’ studies. MRI-detected lesions were significantly smaller than lesions detected by non-MRI modality. All lesions in BRCA1 mutation carriers could be detected by MRI.

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Section: Discussionsupporting

confidence: 74%

The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan

Murakami

Tozaki²,

Nakamura

et al. 2019

Breast Cancer

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“…The larger study should also include smaller lesions and nonmass lesions. 9,10 The selection of features and threshold designed for high-risk groups is an important challenge for our future study. This study was subject to several limitations.…”

Section: Discussionmentioning

confidence: 99%

Combined Use of Texture Features and Morphological Classification Based on Dynamic Contrast-enhanced MR Imaging: Differentiating Benign and Malignant Breast Masses with High Negative Predictive Value

Ohyu

Tozaki²,

Sasaki³

et al. 2022

magn reson med sci

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We evaluated the diagnostic performance of the texture features of dynamic contrast-enhanced (DCE) MRI for breast cancer diagnosis in which the discriminator was optimized, so that the specificity was maximized via the restriction of the negative predictive value (NPV) to greater than 98%.Methods: Histologically proven benign and malignant mass lesions of DCE MRI were enrolled retrospectively. Training and testing sets consist of 166 masses (49 benign, 117 malignant) and 50 masses (15 benign, 35 malignant), respectively. Lesions were classified via MRI review by a radiologist into 4 shape types: smooth (S-type, 34 masses in training set and 8 masses in testing set), irregular without rim-enhancement (I-type, 60 in training and 14 in testing), irregular with rim-enhancement (R-type, 56 in training and 22 in testing), and spicula (16 in training and 6 in testing). Spicula were immediately classified as malignant. For the remaining masses, 298 texture features were calculated using a parametric map of DCE MRI in 3D mass regions. Masses were classified into malignant or benign using two thresholds on a feature pair. On the training set, several feature pairs and their thresholds were selected and optimized for each mass shape type to maximize specificity with the restriction of NPV > 98%. NPV and specificity were computed using the testing set by comparison with histopathologic results and averaged on the selected feature pairs. Results:In the training set, 27, 12, and 15 texture feature pairs are selected for S-type, I-type, and R-type masses, respectively, and thresholds are determined. In the testing set, average NPV and specificity using the selected texture features were 99.0% and 45.2%, respectively, compared to the NPV (85.7%) and specificity (40.0%) in visually assessed MRI category-based diagnosis. Conclusion:We, therefore, suggest that the NPV of our texture-based features method described performs similarly to or greater than the NPV of the MRI category-based diagnosis.

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“…We searched on PubMed using the keywords “ BRCA ” and “MRI” to examine the cases that led to the diagnosis of breast cancer by breast MRI surveillance of cancer-free patients with HBOC in Japan. Four cases were found accordingly (Table 1 ) [ 6 – 8 ]. When combined with our four cases, six of the eight cases could be identified by MRI-targeted US.…”

Section: Discussionmentioning

confidence: 99%

Four magnetic resonance imaging surveillance-detected breast cancer cases in cancer-free BRCA1/2 mutation carriers

et al. 2021

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Background Hereditary breast and ovarian cancer (HBOC) syndrome is a susceptibility syndrome for cancers, such as breast and ovarian cancer, and BRCA1/2 are its causative genes. Annual breast-enhanced magnetic resonance imaging (MRI) is recommended for BRCA1/2 mutation carriers aged over 25 years as a secondary prevention of breast cancer. However, breast MRI surveillance is rarely performed in Japan, and only four cases of breast cancer diagnosis triggered by MRI surveillance have been reported. Case presentation At our hospital, MRI triggered the diagnosis of breast cancer in four cancer-free BRCA1/2 mutation carriers. In one of our four cases, although MRI showed only a 3-mm focus, we could diagnose breast cancer by shortening the surveillance interval considering the patient’s high-risk for developing breast cancer. Conclusions Image-guided biopsy, including MRI-guided biopsy, depending on the size of the lesion, and shorter surveillance intervals are useful when there are potentially malignant findings on breast MRI surveillance for cancer-free patients with HBOC.

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Ductal Carcinoma <i>in situ</i> Detected during Prospective MR Imaging Screening of a Woman with a BRCA2 Mutation: The First Case Report in Japan

Cited by 7 publications

References 12 publications

The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan

The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan

Combined Use of Texture Features and Morphological Classification Based on Dynamic Contrast-enhanced MR Imaging: Differentiating Benign and Malignant Breast Masses with High Negative Predictive Value

Four magnetic resonance imaging surveillance-detected breast cancer cases in cancer-free BRCA1/2 mutation carriers

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