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Introduction: Mucinous cystadenocarcinoma (MCA) of the breast is an extremely rare type of breast carcinoma. Since its biological characteristics, treatment options, and clinical outcomes are unclear, there is a lack of consensus regarding the optimal management of this disease. Thus, our single case report will aid our understanding of its natural history, prognostic factors, and treatment strategies. Case Presentation: We presented a 54-year-old woman with a case of advanced MCA of the breast accompanied by a huge breast mass, lymph node involvement, and distant bone metastases. We diagnosed primary breast MCA through clinical examination, imaging, and immunohistochemical assessments. Subsequently, the patient was treated with a regimen of nab-paclitaxel and bevacizumab, resulting in a significant clinical response. Progression-free survival was maintained during the 6-month follow-up period. Conclusion: We present the first report worldwide of a rare case of MCA of the breast with a large local mass and bone metastases. Our report adds to the limited literature on this rare breast cancer subtype and highlights the importance of accurate diagnosis and appropriate management of aggressive breast tumors. [ABSTRACT FROM AUTHOR]

This study aimed to examine the prognostic value of the neutrophil-to-lymphocyte ratio (NLR) and other clinicopathological features in HER2+ MBC patients who received first-line anti-HER2 therapy. A total of 129 patients were assigned to NLR-low and NLR-high groups based on a cutoff value of 3.0 at baseline. Peripheral blood lymphocyte subsets and gene mutations in circulating tumor DNA were analyzed by flow cytometry and Next-generation sequencing, respectively. Survival was evaluated by the Kaplan–Meier method and Cox regression analysis. Of the 129 patients, 77 and 52 were assigned to the NLR-low (≤3) and NLR-high (>3) groups, respectively. Compared with NLR-high patients, the NLR-low patients had significantly longer median progression-free survival (PFS) (11.7 vs. 7.7 months) (p = 0.001, HR = 2.703 95% CI 1.543–4.736 and overall survival (OS) (37.4 vs. 28.7 months) (p = 0.044, HR = 2.254 95% CI 1.024–4.924). Furthermore, this association was independent of metastatic sites or estrogen receptor status. Peripheral blood CD3+ (p = 0.034) and CD4+ (p = 0.010) T cell numbers were significantly higher in the NLR-low group than the NLR-high group. The mutational profile of MBC was generally similar between the two groups. Baseline NLR was a prognostic factor of PFS and OS for patients with HER2+ MBC in the first-line setting. These results may facilitate the selection of patients who will benefit most from anti-HER2 treatment. [ABSTRACT FROM AUTHOR]

Background: Genetic testing for breast cancer (BC) patients may shift the paradigm towards more personalized management and treatment strategies. While gene alterations may be ethnic-specific in breast cancer, our understanding of genetic epidemiology of BC remains mainly driven by data from Caucasian populations and further limited to selected handful of genes. Methods: We collected whole blood samples from 356 BC patients at metastatic first line BC and primary stage IV disease at Beijing Cancer Hospital between Jan. 2013 to Dec. 2019. A comprehensive 600-gene cancer panel was used to detect germline variants in the covered genes with a median 300x sequencing depth. Variants were classified into pathogenic, likely pathogenic, variant of uncertain significance, likely benign and benign groups according to the ACMG/AMP Standards and Guidelines. Pathogenic and likely pathogenic variants were considered as deleterious mutations. Results: The median age of 356 BC patients was 49 years (range, 21-87 years) at the first diagnosis of BC. Deleterious germline mutations across 48 cancer-related genes were identified in 21.6% (77/356) of the patients. The most prevalent mutations were BRCA1/2 mutations (7.0%), followed by ATM and RAD50 mutations (1.4% each). In addition, patients with family history were more likely to carry BRCA1 mutations (P=0.04). Moreover, patients with triple-negative breast cancer (TNBC) were more likely to harbor BRCA1 mutations than those with HR+ or HER2+ breast cancer (P=0.006). While there was no significant survival difference observed in BRCA1/2 carriers relative to non-carriers, patients with DNA damage repair (DDR) gene mutations (mostly frequently BRCA, ATM, RAD50) had worse disease-free survival (P=0.02). Conclusions: The most prevalent germline mutations in a large cohort of Chinese patients with advanced BC were BRCA1/2 mutations, followed by ATM and RAD50 mutations. In total, approximately 16.0% (57/356) of patients carry deleterious mutations in DDR pathway. Patients with breast or ovarian cancer family history were more likely to carry BRCA1/2 mutations, and ones with DDR mutations had worse survival. These findings suggest that DDR mutations are prevalent in Chinese BC patients who may potentially benefit from treatment with Poly (ADP-ribose) polymerase inhibitors. [ABSTRACT FROM AUTHOR]

Bilateral breast cancer (BBC) is an uncommon subset of breast cancer (BC), and it may present as synchronous bilateral breast cancer (sBBC) or metachronous bilateral breast cancer (mBBC). Through this study, we aimed to evaluate the proportion of BBC in BC and compare the clinicopathological characteristics, treatment, and outcomes of sBBC and mBBC at an academic cancer center in China. Patients with BC consecutively treated between 2006 and 2016 were retrospectively reviewed. Patients with BBC were included. In total, 3924 patients with BC were analyzed and 127 patients with BBC (28 sBBC, 99 mBBC) with a median follow‐up of 98 months were identified. The proportion of BBC was 3.2% (0.7%, sBBC; 2.5%, mBBC). The median age at the first diagnosis of mBBC was significantly younger than that at the first diagnosis of sBBC (p = 0.027). Patients diagnosed as having sBBC were more likely to have a positive family history (p = 0.047). The first tumors of mBBC were detected at a significantly earlier tumor stage compared with those of sBBC (p = 0.028). The concordance rates of histopathologic type in the first and second tumors were 60.7% and 58.0% in sBBC and mBBC, respectively. sBBC had a significantly poorer disease‐free survival than mBBC did (p = 0.001). BBC is a rare disease affecting the Chinese population. sBBC is associated with a greater prevalence of a family history of breast cancer and poorer prognosis, compared with mBBC. [ABSTRACT FROM AUTHOR]

Aim: We aimed to clarify tumor features and prognosis of pregnancy‐associated breast cancer (PABC) among Chinese women. Methods: PABC was defined as breast cancer diagnosed during pregnancy or within a year after delivery. Patients with PABC were selected from breast cancer cases of women ≤45 years treated at our institution between December 2012 and December 2017, and one non‐PABC control was matched for stage, age, and year of diagnosis for each case. Results: Forty‐one women with PABC were identified (22 diagnosed during pregnancy and 19 within 1 year of delivery). There were significantly more progesterone receptor (PR)‐ and triple‐negative tumors in the PABC (56.1% and 24.4%, respectively) than in the non‐PABC group (31.7% and 4.9%, respectively) (P =.045 and.026, respectively). Human epidermal growth factor receptor 2 positivity was the same in both groups (31.7%). Median disease‐free survival (DFS) was 29.0 months (95% confidence interval [CI], 6.5‐51.5 months) in the PABC and 40.9 months (95% CI, 22.8‐58.8 months) in the non‐PABC group (P =.167). Median overall survival (OS) was 82.8 months in the PABC (95% CI, 39.3‐126.5 months) versus 80.1 months (95% CI, 56.7‐103.6 months) in the non‐PABC group (P =.131). Conclusion: Histological features were similar in both groups, except that PR‐ and triple‐negative tumors were more frequent in the PABC group. Survival analyses show similar OS for patients with PABC and non‐PABC. DFS tended to be shorter in the PABC group; however, this difference was not statistically significant. [ABSTRACT FROM AUTHOR]

The aim of the present study was to determine the efficacy and safety of lapatinib-based treatment for patients with human epidermal growth factor receptor-2-positive (HER2+) metastatic breast cancer (MBC). The aim of the present real-world study was to investigate the medical records and follow-up information of 92 patients with HER2+ MBC who received a lapatinib-based regimen at the recurrent/metastatic stage, 78 of whom had been pretreated with trastuzumab. The results demonstrated that the median progression-free survival (PFS) was 5.8 months and the overall survival (OS) was 21.5 months, with an objective response rate (ORR) of 21.7%, disease control rate (DCR) of 87.0% and clinical benefit rate (CBR) of 47.8%. In the patients receiving a lapatinib-based regimen as first-, second- and third/later-line treatment, the median PFS was 10.4, 5.2 and 5.1 months (P=0.048), the median OS was 32.9, 29.1 and 13.0 months (P<0.001), the ORR was 38.9, 23.3 and 13.60%, and the DCR was 100, 83.3 and 84.1%, respectively. In the trastuzumab-resistant (n=71) and trastuzumab-sensitive (n=21) patients, the median PFS was 5.2 and 9.1 months (P=0.032), and the median OS was 21.4 and 44.3 months (P=0.003), respectively. In the patients who received lapatinib plus chemotherapy (n=68), the median PFS with lapatinib plus capecitabine (n=38) was 8.1 months, as compared with the 5.1 months with lapatinib plus other chemotherapy agents (n=30; P=0.005). The median PFS of 14 patients with brain metastases was 8.4 months, with an ORR of 35.7% and a DCR of 85.7%. Multivariate analysis revealed that the line of lapatinib-based treatment and its combination with capecitabine or a different agent were independent prognostic factors for the median PFS in patients with HER2+ MBC. A limited number of adverse events were observed with the combination of lapatinib and capecitabine. Therefore, the findings of the present study suggested that lapatinib-based treatment is effective in patients with HER2+ MBC (even in trastuzumab-pretreated patients), and the combination of lapatinib with capecitabine may be recommended due to its good efficacy, convenience and tolerability. [ABSTRACT FROM AUTHOR]