European journal of breast health最新文献

Objective: The aim of this study was to determine the frequency of germline variants in BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 in patients admitted to a medical genetics clinic with breast cancer and to assess these identified variants according to published genetic, surgical and oncological perspectives.

Materials and methods: Medical history, and cancer diagnosis information for 195 independent probands with operated breast cancer were collected from requisition forms and medical records. The exonic regions and exon-intron junctions in BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 genes were sequenced. Analysis of fastq files was performed on the Qiagen Clinical Insight-Analyse Universal with panel-specific pipeline and vcf files were interpreted clinically using Qiagen Clinical Insight-Interpret.

Results: Gene variants (pathogenic, likely pathogenic and variants of unknown significance) were detected in 53 (27.2%). Detailed information about the patients (age of diagnosis, family history, gender), cancer stage, tumour characteristics (ER, PR, human epidermal growth factor receptor 2 status) and all information related to the detected variants (gene, location, nucleotide and amino acid change, exon number, impact, mutation classification, dbSNP number and HGMD variant class) were assessed. In total, 58 mutations were identified including 14 novel, previously unreported variants.

Conclusion: Molecular characterization and identification of mutations have important implications for predictive, preventive, and personalized medicine, including genetic counseling and development of specific treatment protocols. We emphasize variants of unknown significance (VUS) as the clinical significance of VUS changes over time and variant classification is important for clinical molecular genetic testing and clinical guidance. This study may provide new insights into risk assessment for variants in CDH1, PALB2, PTEN and TP53, in addition to BRCA1 and BRCA2, which may prove useful for clinical management of breast cancer patients. Further studies are needed to identify the common gene variants in the Turkish population and evaluate the pathogenity of VUS.

Objective: Cultural norms, community-specific cultural or religious beliefs, and resultant patient health-belief models are known to pose a significant but imperceptible barrier to breast cancer care. However, there is a paucity of data addressing the need for culturally relevant breast clinic navigation in the context of culturally diverse regions. Thus, this study aimed to assess the benefit of culturally similar breast clinic navigators in facilitating treatment adherence and improving overall care in patients.

Materials and methods: This study was a retrospective qualitative study. It included breast cancer patients who attended our clinic from January, 2017 to December, 2017 and whose management plan included neoadjuvant chemotherapy. These patients were assigned culturally similar breast clinic navigators who counselled them from diagnosis, to treatment, to survivorship. Additionally, navigation concerns were grouped into the following: Navigating the neighbourhood, navigating hostile hospital environments, and navigating medical consultations.

Results: Through counselling sessions and regular telephone follow-up, breast clinic navigators were able to address navigation concerns, provide support for the patient as well as inform the multidisciplinary team (MDT) on the patient's thought process and potential barriers for care. Thus, treatment plans were personalised, resulting in improved, holistic care.

Conclusion: The role of culturally relevant patient navigators within the MDT is not well-described in the current literature. However, this role is useful where a gap exists between medical professionals and patients from varied backgrounds. Thus, navigators from the same/similar backgrounds help improve the healthcare worker's understanding of the patient's thought process, ensuring good quality and holistic breast cancer care.

Objective: To compare the effects of low-level laser therapy, kinesio-taping and manual lymphatic drainage (MLD) on the affected arm volume, quality of life, arm function, neuropathic pain and shoulder mobility in patients with stage II breast cancer-related lymphedema.

Materials and methods: Forty-five breast cancer patients with stage II lymphedema were included. The patients were randomized to three groups and treated with MLD, kinesio-taping or low-level laser therapy. After these different therapeutic modalities, all patients received multilayer compression bandaging, lymphedema remedial exercises, skin care, and a patient education program by the same lymphedema therapist. All treatments were applied 5-days a week for three weeks. The lymphedema compression garments were prescribed to all patients and follow-up visits were planned at the end of the treatment, and at four and 12 weeks. The efficacy of the treatments was evaluated by volumetric calculations based on circumferential measurements using the formula for a truncated cone, in addition to goniometric assessments for shoulder joint ROM, and questionnaires: Quick-disability of arm, shoulder and hand for arm disability; pain-detect for neuropathic pain; and quality of life for arm lymphedema (LYMQOL-arm).

Results: The baseline patient and disease characteristics, and outcome measures were similar between groups. All treatment modalities were found to be effective in decreasing arm volume, and improving quality of life, upper extremity disability and neuropathic pain. The percentage of decreased arm volume or treatment success was better in kinesio-taping group than in the MLD group at the end of the treatment, and at four and 12 weeks after treatment (p = 0.009, p = 0.039, and p = 0.042, respectively).

Conclusion: Kinesio-taping led to better results than MLD and was similarly effective compared with low-level laser in stage II breast cancer-related lymphedema at the twelfth week of follow-up. Kinesio-taping and low-level laser should be considered as alternative treatments in early-moderate stages of lymphedema. After these modalities, multi-layer compression and compression bandaging remain cornerstones of lymphedema treatment.

Objective: Taxane-based neoadjuvant chemotherapy is the most common neoadjuvant approach in breast cancer, especially in human epidermal growth factor receptor 2 (HER2)-positive and triple-negative subtypes. However, chemoresistance is a problem in many patients, and success rates are low in estrogen receptor (ER)-positive breast cancer. The aim of this study was to identify predictive markers for resistance to taxane-based therapy, which may have a potential as therapeutic targets in breast cancer.

Materials and methods: Three comprehensive breast cancer Gene Expression Omnibus datasets were analyzed to identify differentially expressed genes (DEGs) in breast cancer patients resistant to taxane-based neoadjuvant chemotherapy. Functional annotation clustering and enrichment analysis were performed on the DEGs list. A protein-protein interaction network was established with the upregulated genes. The predictive value and the differential expression of the central genes were validated in the extensive ROC Plotter database.

Results: Seventeen upregulated genes were found which were associated with resistance to taxane-based neoadjuvant therapy and high connectivity in the network analysis. ESR1, CCND1, and SCUBE2 emerged as the top three key genes associated with resistance. SCUBE2 displayed a high predictive power comparable to ESR1, and better than CCND1, the two commonly accepted markers. The predictive ability of SCUBE2 was higher in ER-positive and HER2-positive breast cancers.

Conclusion: These results suggest that SCUBE2 may be used as a predictive marker to guide decisions on neoadjuvant therapy. Emerging evidence about the role of SCUBE2 as a coreceptor involved in tumor progression and angiogenesis also suggests SCUBE2 as a potential therapeutic target. These points should be investigated in further studies.

Objective: Invasive papillary carcinoma (IPC) of the breast is an uncommon histologic subtype with limited data in the literature. The aim of this study was to increase the evidence base by presenting clinicopathological findings of cases diagnosed as IPC.

Materials and methods: Hematoxylin and eosin sections and immunostaining of surgical excision specimens diagnosed as invasive breast carcinoma were re-evaluated, retrospectively.

Results: IPC was detected in 22 cases (1.9%), of which 7 (0.6%) had pure and 15 (1.3%) had mixed morphology. Histologic types accompanying IPC were: Invasive ductal carcinoma (IDC) (15/15); invasive micropapillary carcinoma (3/15); and pleomorphic lobular carcinoma (1/15). Patient ages ranged between 36 and 89 (median 56.5) and the tumor size from 8 to 70 mm (median 19 mm). The histologic grade was 3 in five cases, 2 in 13, and 1 in four cases. The nuclear grade was 3 in 10 cases and 2 in 12. The values of positivity for estrogen receptor, progesterone receptor, human epidermal growth factor receptor-2, and Ki-67 index indicated Luminal B phenotype in 16 (72.7%), triple-negative in 5 (22.7%), and Luminal A in 1 case (4.6%). Ductal carcinoma in situ was noted in 19 cases (86.4%).

Conclusion: IPC was mostly detected as an accompanying carcinoma to IDC at postmenopausal ages and was mostly Luminal B phenotype with intermediate-to-high grade features.

Objective: Breast cancer is the most common cancer among women worldwide. Neutrophil gelatinase-associated lipocalin (NGAL) has important roles in immunity, cell proliferation, and carcinogenesis. Kidney injury molecule-1 (KIM-1) is a transmembrane glycoprotein also known as hepatitis A virus cellular receptor 1 and T-cell immunoglobulin and mucin, has restricted expression in immune cells and healthy epithelial cells, but it is up-regulated in several human cancers. The aim of this study was to determine the prognostic values of NGAL and KIM-1 expression in tumor cells and to detect the presence of NGAL-positive neutrophils (PNL) in the tumor microenvironment.

Materials and methods: The expression of NGAL and KIM-1 protein were assessed by immunohistochemical staining in tissue specimens from 412 primary breast cancer cases.

Results: In this series, the mean age of the patients was 55.6±12.4 years. In 218 (52.9%) cases, there was NGAL expression in tumor cells. In 104 (25.2%) cases there was KIM-1 expression in tumor cells. NGAL-positive inflammatory cells were seen in tumors of 45 (10.9%) cases. There was no significant relationship between NGAL-positive PNL presence in the tumor microenvironment and other clinicopathological features. However, there was a significant association between the presence of in situ carcinomas and NGAL expression (p = 0.008) and KIM-1 expression (p = 0.020) in tumor cells.

Conclusion: This study has demonstrated positivity of NGAL and KIM-1 in breast cancer cells. Considering the development of anti-KIM-1 therapies, the presence of KIM-1 expression may be a new treatment option in breast cancer, especially in in situ component-rich tumors. These findings should be confirmed in larger series.

Desmoid tumors of the breast are rare, comprising 0.2% of all breast tumors. They may be locally invasive but do not metastasize. The etiology is multifactorial including surgical trauma in the setting of prior cosmetic augmentation breast implants. We submit a case of a large desmoid tumor in the breast following silicone implant placement three years prior to patient presentation. The patient was treated with wide local excision to negative margins and implant exchange. A follow up breast magnetic resonance imaging at 3 and 6 months did not detect a recurrence thus far.

Objective: Phyllodes tumors (PTs) are a rare group of breast tumors. Most malignant transformations are in situ carcinomas that are extremely rare and are limited to individual cases in the literature. The presence of in situ/invasive carcinomas is important as this may alter clinical judgment and management. In this study, we aimed to determine the association of in situ/invasive carcinomas among PTs.

Materials and methods: This retrospectively designed study included cases diagnosed with PTs between 2011 and 2020 in the pathology department of a tertiary level hospital. Tumors were grouped into benign, borderline and malignant, according to stromal overgrowth, stromal atypia, stromal cellularity and mitotic activity. In addition, age, location, type of operation, tumor diameter, and surgical margin information were recorded. in situ and/or invasive carcinoma foci accompanying the PTs were assessed.

Results: A total of 29 patients diagnosed with PTs were identified, among whom 14 (48.2%) had benign PTs, 10 (34.4%) had borderline PTs, and 5 (17.2%) had malignant PTs. Of the patients with PTs, 3 (10.3%) had coexistent invasive carcinoma and 1 (3.4%) had carcinoma in situ. In this cohort the incidence of coexistence of PT and carcinoma was 4/29 (13.7%), which is much higher than previously reported (1.1% and 6%). The incidence of carcinoma was 2/5 (40%) in malignant PT patients and 2/10 (20%) in borderline PT patients. The coexistence of malignant PTs and carcinoma was significantly higher than those of benign and borderline PTs (p<0.05).

Conclusion: The multidisciplinary team dealing with breast diseases has a great responsibility in both diagnosis and treatment. We anticipate that these rates will increase with an increase in the awareness and importance of this coexistence of carcinoma and PTs.

Objective: Screening patients on anthracycline-based chemotherapy regimens for the development of cardiotoxicity can be resource intensive. We therefore studied various traditional electrocardiogram (ECG) parameters to correlate and possibly predict the development of elevated Troponin I as a surrogate marker of anthracycline-induced cardiotoxicity.

Materials and methods: This was a single-centre prospective cohort study done between January 2014 to January 2016. Baseline ECG was compared with ECG performed after chemotherapy and different parameters were compared. Patients were divided into Troponin I positive and negative groups based on the test performed at the end of chemotherapy, using a cut-off of 0.06 ng/dL.

Results: Of the 160 patients studied, 131 (81.9%) were Troponin I negative (TnI-) and 29 (18.1%) were positive (TnI+). Breast cancer accounted for 79% of all cancers in this study. Many ECG parameters were compared between the TnI- and TnI+ groups. Of them, TP segment and TP/QT showed a significant decrease in the TnI+ group. The mean (95% confidence interval) TP in the TnI- group was 162.9 ms (145.4, 180.4) and in TnI+ groups was 117.9 ms (89, 146.8) (p = 0.03). Corresponding values for TP/QT were 0.47 (0.42, 0.51) and 0.35 (0.27, 0.42) (p = 0.02). These changes were not significant in multivariate analysis and likely reflected the different mean heart rates (HR) in both the groups, as suggested by partial correlation which was run with HR as a confounder.

Conclusion: ECG parameters, such as QTcH, TP and TP/QT do not helpful predicting Troponin I elevations in patients on anthracycline-based chemotherapy. Further studies based on hard endpoints, for example, clinical systolic dysfunction occurring at one year, would give better information on their utility.