Osman Cem Yılmaz

Background/Objectives: Contralateral prophylactic mastectomy (CPM) is increasingly performed despite negative preoperative imaging. We evaluated the prevalence and MRI detectability of occult pathology in the contralateral breast. Methods: In this single-center retrospective cohort, 82 patients with unilateral invasive breast cancer underwent simultaneous CPM after preoperative contralateral MRI. Occult findings were classified as occult malignancy, atypical/high-risk lesions, or other lesions of uncertain malignant potential (B3 lesions); the primary outcome was clinically significant occult pathology (malignancy or an atypical/high-risk lesion). Proportions are reported with exact 95% confidence intervals and associations with exact odds ratios and Benjamini–Hochberg correction. Results: Occult malignancy occurred in 1/82 (1.2%; a single DCIS), clinically significant occult pathology in 14/82 (17.1%) and any occult pathology in 21/82 (25.6%). Among 59 patients with a negative MRI (BI-RADS 1–2), clinically significant occult pathology occurred in 18.6% and atypical/high-risk lesions in 16.9% (whole cohort, 15.9%). The single occult malignancy arose in an MRI-negative breast. No factor remained significant after correction for multiple comparisons. Conclusions: After preoperative MRI, occult malignancy is rare, whereas atypical and high-risk lesions frequently remain occult; a negative contralateral MRI excluded neither. These findings support individualized, shared decision-making rather than the yield of occult pathology as the basis for CPM.

Purpose Accurate assessment of residual disease after neoadjuvant chemotherapy (NAC) is essential for surgical planning and prevention of incomplete excision. This study evaluated artificial intelligence (AI)–assisted digital breast tomosynthesis (DBT) as a decision-support tool for post-NAC assessment in breast cancer. Methods This retrospective study included 151 patients treated with NAC followed by surgery. Post-NAC DBT images were analyzed using Lunit INSIGHT DBT. An AI score threshold of 70 was used to classify patients as having low (< 70) or high (≥ 70) scores. In a paired subgroup of 70 patients, pre- and post-NAC AI scores were compared. Diagnostic performance and univariable and multivariable analyses were performed. Results The overall pathological complete response (pCR) rate was 41.1% (62/151). Patients with low AI scores had higher pCR rates than those with high scores (49.5% vs. 28.3%, p = 0.010). High AI scores were associated with persistent microcalcifications and residual ductal carcinoma in situ (p < 0.001). Overall accuracy was 58.3% and varied by molecular subtype, with higher performance in triple-negative breast cancer and limited discrimination in HR+/HER2 − tumors. In multivariable analysis, AI score showed borderline significance (p = 0.070). In the paired cohort, AI scores decreased after NAC (p < 0.001), but delta change did not differ between pCR and non-pCR groups (p = 0.877). Conclusion AI-assisted DBT may have potential complementary value as a decision-support tool for post-NAC surgical planning, particularly in triple-negative breast cancer and in cases with residual microcalcifications.

Background: The increasing use of multigene germline testing in breast cancer has expanded the detection of pathogenic/likely pathogenic (P/LP) variants and variants of uncertain significance (VUSs) across a broad range of breast cancer susceptibility genes. However, the extent to which pathogenic certainty and penetrance level are associated with distinct clinicopathological phenotypes and management patterns remains incompletely defined. Methods: In this multicenter retrospective study, we included 405 breast cancer patients with germline alterations in breast cancer susceptibility genes. Patients were classified into three groups: high-penetrance P/LP (n = 116), moderate/low-penetrance P/LP (n = 69), and VUS (n = 220). The primary endpoint was non-luminal invasive breast cancer phenotype, defined as HER2-positive or triple-negative disease versus luminal A/B disease. Multivariable logistic regression was performed to assess the association between genetic group and non-luminal phenotype, adjusted for age at diagnosis and family history. Secondary analyses evaluated management patterns across groups and examined a prespecified non-BRCA cohort. Results: Patients with high-penetrance P/LP variants were younger at diagnosis and had higher Ki-67 values than those in the other groups. Molecular subtype distribution differed significantly across groups, with triple-negative disease most frequent in the high-penetrance P/LP group (33.9%) compared with the moderate/low-penetrance P/LP (9.8%) and VUS (12.9%) groups. In multivariable analysis, high-penetrance P/LP status was independently associated with increased odds of non-luminal phenotype compared with VUS (OR 1.79, 95% CI 1.06–3.04; p = 0.029), whereas moderate/low-penetrance P/LP status was not (OR 0.96, 95% CI 0.48–1.91; p = 0.911). Management patterns also differed significantly. Initial mastectomy was performed in 65.4% of evaluable patients in the high-penetrance P/LP group, compared with 46.4% in the moderate/low-penetrance P/LP group and 45.5% in the VUS group. Final bilateral mastectomy was observed in 62.6%, 17.5%, and 9.9%, respectively (p < 0.001). In the prespecified non-BRCA analysis, non-BRCA P/LP status was not associated with non-luminal phenotype compared with non-BRCA VUS (OR 0.83, 95% CI 0.40–1.72; p = 0.609). Conclusions: Among breast cancer patients with germline alterations in breast cancer susceptibility genes, high-penetrance P/LP variants are associated with a distinct clinicopathological profile characterized by younger age at diagnosis, higher proliferative activity, and increased likelihood of non-luminal disease. In contrast, moderate/low-penetrance P/LP variants, especially VUSs, do not show the same degree of phenotype specificity. These findings support a framework in which pathogenic certainty and penetrance level remain central to the interpretation of multigene germline testing in breast cancer.

Background: Intraoperative ultrasound (IO-USG) may optimize axillary management in breast cancer surgery. This study evaluated IO-USG’s dual role in preventing unnecessary axillary lymph node dissection (ALND) and identifying additional nodal metastases missed by sentinel lymph node biopsy (SLNB). Methods: This retrospective cohort study included 314 consecutive patients with invasive breast cancer who underwent SLNB with IO-USG evaluation between January 2019 and December 2023. IO-USG was performed after SLNB to identify suspicious non-sentinel nodes. Patients were categorized into SLNB-only, targeted axillary dissection (TAD), or ALND based on combined SLNB and IO-USG findings. Results: Of 314 patients, 113 (36%) received neoadjuvant chemotherapy and 201 (64%) underwent upfront surgery. Final surgical management comprised SLNB-only in 244 (77.7%), TAD in 46 (14.7%), and ALND in 24 (7.6%) patients. Among 89 SLNB-positive patients, 68 (76.4%) avoided ALND through IO-USG guidance. IO-USG identified additional axillary metastases in 4 of 225 SLNB-negative patients (1.8%). Molecular subtype analysis revealed no IO-USG positivity in triple-negative cases (0/25), while HR+/HER2- tumors comprised 82.6% of IO-USG-positive cases. At a median follow-up of 33.2 months, no axillary recurrences occurred. Conclusion: IO-USG may support personalized axillary management, helping avoid ALND in 76.4% of node-positive patients while identifying additional axillary metastases in 1.8% of SLNB-negative cases. As a complementary technique to standard SLNB, it appears to provide selective utility based on tumor biology. Trial registration: Not applicable.

Ejmi Eurasian Journal of Medical Investigation

Ductal carcinoma in situ (DCIS) is a heterogeneous precursor lesion with variable invasive potential. Current predictive parameters for invasion risk offer limited utility for personalized assessment. This study aims to evaluate artificial intelligence (AI)-assisted mammography analysis as a tool for predicting invasion risk in DCIS patients. In this retrospective cohort study, 74 patients with pathologically proven DCIS by preoperative biopsy were analyzed using a deep learning-based AI system (Transpara version 1.7.4). The AI system classified patients into low-risk and high-risk groups, which were validated against postoperative histopathological findings. Statistical analysis included sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy calculations. Invasion was detected in 19 (25.7%) patients, with 18 (94.7%) classified as high-risk by the AI system. The model demonstrated 94.7% sensitivity, 45.5% specificity, 37.5% PPV, and 96.2% NPV. In patients aged ≥ 50 years and those with lesions ≥ 3 cm, the NPV reached 100%. A significant relationship was found between necrosis and invasion (p = 0.004). The high NPV suggests AI-assisted mammography analysis could serve as an effective rule-out tool for invasion in DCIS patients, potentially identifying candidates for less aggressive surgical treatment. Further validation in larger, multi-center studies is necessary to confirm these findings.

Background: Wire localization for nonpalpable breast lesions and pre-neoadjuvant chemotherapy (NAC) clips can lead to complications including wire migration, pneumothorax, and organ injury. This study evaluates the clinical efficacy and safety of a novel 3D-printed screw mechanism designed to prevent wire migration. Methods: This retrospective descriptive study included 104 patients with nonpalpable breast lesions and pre-NAC clips who underwent wire localization between March 2023 and August 2024. A screw mechanism was designed and manufactured using 3D printing technology with polylactic acid (PLA) material (4 g per device). The device features a 21.7 mm base diameter and elliptical wire hole (2.5 × 4 mm). Wire stability and complications were assessed through imaging and clinical follow-up. Results: The median age was 47 years (range: 33–82) and median BMI was 24.7 (17.9–40.8). Lesions were primarily located in the upper outer quadrant (49.9%). Among 68 patients receiving NAC, 44.1% achieved pathological complete response (ypT0N0). The screw mechanism successfully prevented wire migration during patient transport from radiology to operating room in all 104 cases (0% migration rate, 95% CI: 0-3.6%). No complications including pneumothorax, organ injury, or skin reactions were observed. The device was easily removed by simple unscrewing on the operating table before surgical skin preparation. Median device application time was 2–4 h. Conclusion: The 3D-printed screw mechanism effectively prevents wire migration and demonstrates excellent safety profile. Its simple design and ease of application make it a practical solution for improving patient safety during breast lesion localization procedures. Trial registration: Not applicable. This retrospective study did not require trial registration.

We present a case with imaging artefacts on mammography and Magnetic Resonance Imaging (MRI) caused by iron oxide particles. After being diagnosed with the medullary cancer of the breast, the female patient had a breast conserving surgery on right breast. Iron oxide particles were used for the detection of the sentinel lymph node during operation. On follow ups, a de novo density on mammography, which was initially thought to be a new tumour, was found. MR images proved that the lesion is an artefact caused by iron oxide accumulation. Our aim in this case study is to underline and discuss the imaging artefacts caused by these particles and raise awareness.