Search Results (7)

Background/Objectives: We investigated the feasibility of ductoscopy in diagnosis and management of patients presenting with clinically pathological nipple discharge (PND). Methods: Mammary ductoscopy was performed on 57 breasts with PND in 54 patients for diagnostic and therapeutic purposes. Ductoscopic abnormalities included ductal irregularities, presence of erythematous patches, or presence of intraductal papillomas, whereas duct ectasia or presence of dense fluid was considered a benign finding. Results: Age older than 40 and any pathology in ultrasound or ductoscopy were significantly associated with a decision of surgery. Surgical procedures included central duct excisions (n = 16) or specific duct excisions (n = 14) guided by either ultrasound (USG) or ductoscopy. Presence of an abnormal finding on ductoscopy was significantly associated with a specific lesion yield for PND in 18 patients, such as ductal carcinoma in situ with/without papillary cancer (n = 2, 11.1%), or intraductal papilloma/papillomatosis (n = 15, 83.3%) or periductal mastitis (n = 1, 5.6%) (specific lesion for PND; ductoscopic abnormality: 83.3% (15/18) vs. ductoscopic benign findings: 16.7% (2/12); p = 0.001) in patients undergoing surgical intervention. However, pathological findings in other imaging modalities including USG, magnetic resonance imaging (MRI) or mammogram were not associated with specific lesion yield for PND. The cancer detection rate in surgically excised lesions (n = 30) was 6.7% (n = 2). Overall, nipple discharge ceased in three patients who were conservatively observed after benign findings on ductoscopy at a median of 58 months (IQR, 39–77). Conclusions: The use of ductoscopy facilitated surgical decision-making in patients with PND, helping to distinguish patients requiring surgical excision from those suitable for conservative follow-up. In this cohort, ductoscopy findings were frequently associated with specific lesions, including mostly intraductal papilloma, explaining nipple discharge in patients selected for surgery. Full article

Background and Objectives: Breast lesions of uncertain malignant potential identified on biopsy, known as “B3 lesions,” constitute a significant portion of diagnoses in numerous published studies. These lesions are associated with a variable risk of coinciding malignant tumors, and current guidelines recommend complete excision, which can occasionally lead to an upgrade in the resection specimen. However, alternative, less invasive treatment strategies, such as clinical follow-up, may be considered. In this study, we retrospectively analyzed diagnostic biopsies from our institution to determine the upgrade rate of each B3 lesion subgroup to breast malignancy following complete excision. Materials and Methods: All breast biopsies conducted at our institution from 1 January 2018 to 30 November 2022 and classified as B3 lesions were included in this study. The lesions were categorized into groups and subgroups based on their growth pattern and histopathological features. To determine the upgrade rate to ductal carcinoma in situ (DCIS) or invasive breast cancer (IBC) for each B3 lesion subgroup, we assessed the histological concordance between the biopsy and the resection specimen. Results: During the study period, 10,531 biopsies were performed, of which 1045 (9.93%) were classified as B3 lesions. Among these, 795 (76.08%) were subsequently resected, either through surgical procedures (98.32%) or using the Vacuum-Assisted Excision technique (1.68%). Histological examination revealed that 89 (11.19%) of the resected B3 lesions were upgraded to breast malignancy, with 59 cases (7.42%) progressing to DCIS, 22 cases (2.76%) to IBC, and 8 cases (1.01%) to borderline or malignant phyllodes tumor. The upgrade rate varied among histopathological subgroups, being lowest in complex sclerosing lesions without atypia (4.95%, 95% CI: 2.5–8.7%) and highest in intraductal papillomas with atypia (58.82%; 95% CI: 32.9–81.6%). Conclusions: Statistically significant differences were observed between B3 lesion subgroups, with a higher risk of upgrade in lesions exhibiting atypia. As our understanding of B3 lesions evolves, there is potential to implement therapeutic strategies tailored to the specific risk associated with each subgroup. This approach could allow for less invasive management options, such as clinical or radiological follow-up, thereby sparing patients from unnecessary invasive procedures when appropriate. Full article

Mutation study for high-risk breast and ovarian cancer (HBOC) has been extensively studied in patients of different ethnicities. Here we compared the germline mutation rate and mutation spectrum of patients (n = 4341) with benign breast diseases or breast cancers, with and without other risk factors. Three cohorts of Chinese patients were recruited. The first cohort, high-risk cohort (HR, n = 3935) included high-risk breast cancer patients fulfilling high-risk HBOC criteria and who are recruited at our genetics clinic. The second cohort, unselected cancer cohort (CC, n = 307) was from general recruitment of patients with breast cancer at breast surgery clinics. The third cohort, benign breast lesion cohort (NC, n = 99) comprised 99 patients with benign breast diseases such as fibroadenoma, fibroadenomatoid hyperplasia, and intraductal papilloma. Thirty HBOC related genes were sequenced on the above-mentioned patient cohorts. The germline mutation rates of HR, CC, and NC cohort were 11.9%, 6.5%, and 8.1%, respectively. In the CC cohort, 29.3% (90/307) of patients fulfilled the National Comprehensive Cancer Network (NCCN) high-risk genetic test criteria 2022 v.2. The mutation rate for this group of patients was 11.1%, similar to that of the HR cohort, while the mutation rate for those not fulfilling testing criteria was 4.6%, like that of the NC cohort. High penetrance genes (BRCA1/2, CDH1, PALB2, PTEN, and TP53) mutations were only found in the HR (10.6%) and CC (3.3%) cohorts but were not found in the NC cohort. ATM, BRIP1, RAD51C, and RAD51D mutations were identified in all cohorts. RAD51C and RAD51D mutations showed conflicting penetrance. An unexpectedly high mutation rate of total 2% was found in the NC cohort but it was only 0.3% and 0.5% in the HR cohort and CC cohort, respectively. Our results show a clinical need to enhance genetic testing of unselected breast cancer patients to identify the high-risk patients. Full article

High-risk breast lesions including incidental intraductal papilloma without atypia (IPA), lobular hyperplasia (LCIS or ALH), flat epithelial atypia (FEA) and complex sclerosing lesion (CSL) are not routinely excised due to low upgrade rates to carcinoma. We aim to identify features of these lesions predictive of upgrade when identified concurrently with invasive disease. Methods: A single-center retrospective cohort study was performed for patients who underwent multi-site lumpectomies with invasive disease at one site and a high-risk lesion at another site between 2006 and 2021. A multinomial logistic regression was performed. Results: Sixty-five patients met the inclusion criteria. Four patients (6.2%) had an upgrade to in situ disease (DCIS) and one (1.5%) to invasive carcinoma. Three upgraded high-risk lesions were ipsilateral to the concurrent carcinoma and two were contralateral. In the multivariate model, a high-risk lesion within 5 cm of an ipsilateral malignancy was associated with increased risk of upgrade. The 3.8% upgrade rate for high-risk lesions located greater than 5 cm from ipsilateral malignancy or in the contralateral breast suggests that omission of excisional biopsy may be considered. Excisional biopsy of lesions within 5 cm of ipsilateral malignancy is recommended given the 25% upgrade risk in our series. Full article

Patients with pathological nipple discharge (PND) often undergo local surgical procedures because standard radiologic imaging fails to identify the underlying cause. MicroRNA (MiRNA) expression analysis of nipple fluid holds potential for distinguishing between breast diseases. This study aimed to compare miRNA expression levels between nipple fluids from patients with PND to identify possible relevant miRNAs that could differentiate between intraductal papillomas and no abnormalities in the breast tissue. Nipple fluid samples from patients with PND without radiological and pathological suspicion for malignancy who underwent a ductoscopy procedure were analyzed. We used univariate and multivariate regression analyses to identify nipple fluid miRNAs differing between pathologically confirmed papillomas and breast tissue without abnormalities. A total of 27 nipple fluid samples from patients with PND were included for miRNA expression analysis. Out of the 22 miRNAs examined, only miR-145-5p was significantly differentially expressed (upregulated) in nipple fluid from patients with an intraductal papilloma compared to patients showing no breast abnormalities (OR 4.76, p = 0.046), with a diagnostic accuracy of 92%. miR-145-5p expression in nipple fluid differs for intraductal papillomas and breast tissue without abnormalities and, therefore, has potential as a diagnostic marker to signal presence of papillomas in PND patients. However, further refinement and validation in clinical trials are necessary to establish its clinical applicability. Full article

Objectives: To conduct a review of evidence about papillomatosis/multiple papillomas (MP), its clinical and imaging presentation, the association between MP and malignancy and the management strategies that follow. Methods: A computerized literature search using PubMed and Google Scholar was performed up to January 2021 with the following search strategy: “papilloma” OR “intraductal papilloma” OR “intraductal papillary neoplasms” OR “papillomatosis” OR “papillary lesion” AND “breast”. Two authors independently conducted a search, screening and extraction of data from the eligible studies. Results: Of the 1881 articles identified, 29 articles met the inclusion criteria. The most common breast imaging methods (mammography, ultrasound) showed few specific signs of MP, and evidence about magnetic resonance imaging were weak. Regarding the association between MP and malignancy, the risk of underestimation to biopsy methods and the frequent coexistence of MP and other high-risk lesions needs to be taken into consideration. Results about the risk of developing breast carcinoma of patients affected by MP were inconsistent. Conclusions: MP is a challenge for all breast specialists, and familiarity with its features is required to make the correct diagnosis. Further studies are needed to evaluate the factors to take into account to plan management, time of follow-up and imaging methods. Full article

Ductal carcinoma in situ (DCIS) of male breast is a rare lesion, often associated with invasive carcinoma. When the in situ component is present in pure form, histological grade is usually low or intermediate. Imaging is difficult as gynaecomastia is often present and can mask underlying findings. We report a rare case of pure high-grade DCIS in a young male patient, with associated intraductal papilloma and atypical ductal hyperplasia. Digital breast tomosynthesis (DBT) showed an area of architectural distortion at the union of outer quadrants of the left breast without gynaecomastia. Triple assessment suggested performing a nipple-sparing mastectomy, which revealed the presence of a focal area of high-grade DCIS of 2 mm. DCIS, even of high grade, is difficult to detect with mammography and even more rare, especially when associated with other proliferative lesions. DBT with 2D synthetic reconstruction is useful as the imaging step of a triple assessment and it should be performed in both symptomatic and asymptomatic high-risk men to differentiate between malignant and benign lesions. We propose a diagnostic model to early detect breast cancer in men, optimizing resources according to efficiency, effectiveness and economy, and look forward to radiomics as a powerful tool to help radiologists. Full article