scholarly journals Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Ling Li ◽  
Fangfang Chen ◽  
An Lin ◽  
Di Wang ◽  
Yi Shi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Lymph Node ◽  
Distant Metastasis ◽  
Age Of Onset ◽  
Clinical Information ◽  
Clinicopathological Characteristics ◽  
High Grade ◽  
Brca1 And Brca2 ◽  
Serous Adenocarcinoma ◽  
Node Metastasis

Breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) are known biomarkers for hereditary ovarian cancer (OC). However, a comprehensive association study between BRCA1/2 mutation spectrum and clinicopathological characteristics in Chinese ovarian cancer patients has not been performed yet to our best knowledge. To fill in this gap, we collected BRCA1/2 sequencing data and clinical information of 141 OC patients from Fujian Cancer Hospital between April 2018 and March 2020. The clinical information includes the age of onset, FIGO staging, pathological types, serum 125 detection level, lymph node metastasis, distant metastasis, the expression of Ki67, and disease history of the patient and his/her family. We then studied their associations by software SciPy 1.0. As a result, we detected pathogenic and potentially pathogenic BRCA1/2 mutations in 27 out of 141 patients (19.15%). Among the 27 patients with mutations, the major type of mutation was frameshift, which was observed in 12 patients (44.4%). Most of the mutation sites were distributed on exons 10 and 11, accounting for 48.1% (13/27) and 22.2% (6/27), respectively. In terms of histological classification, high-grade serous adenocarcinoma accounted for 79.43% of the 141 samples. The BRCA1/2 mutation group was all high-grade serous adenocarcinoma, accounting for 24.1% (27/112) of this group. The incidence of pathogenic mutation in BRCA1 and BRCA2 was 15.7% (19/112) and 7.27% (8/112), respectively. Univariate analysis showed that there was no significant difference between patients with BRCA1/2 mutation and others in age-of-onset, FIGO stage, pathological types, serum CA125 level, lymph node metastasis, the expression of Ki67, and personal and family disease history. However, there are significant differences between patients with BRCA1/2 mutation and others in distant metastasis rate ( P < 0.002 ). In addition, the BRCA1/2 mutation rate in 141 ovarian cancer patients was similar to those reported in other studies in China. Nearly one-quarter of high-grade serous carcinomas had BRCA1/2 mutations. In conclusion, our study indicated that patients with BRCA1/2 mutations were more likely to undergo distant metastasis, and BRCA1/2 mutation detection should be performed for patients with high-grade serous adenocarcinoma to guide the selection of clinical treatment options.

scholarly journals Downregulated Long Noncoding RNA DGCR5 Acts as a New Promising Biomarker for the Diagnosis and Prognosis of Ovarian Cancer

2019 ◽  
Vol 18 ◽  
pp. 153303381989680
Author(s):  
Hongxiao Chen ◽  
Xiufang Tian ◽  
Yajing Luan ◽  
Hui Lu
Keyword(s):  
Ovarian Cancer ◽  
Overall Survival ◽  
Lymph Node ◽  
Lymph Node Metastasis ◽  
Distant Metastasis ◽  
Critical Region ◽  
Noncoding Rna ◽  
Digeorge Syndrome ◽  
Region Gene ◽  
Node Metastasis

Emerging evidence have indicated that dysregulated long noncoding ribonucleic acids act as a novel diagnostic and therapeutic target in the progression of ovarian cancer. Long noncoding RNA DiGeorge syndrome critical region gene 5 has been reported to participate in some types of human cancer progresses, but its clinical roles in ovarian cancer had been rarely reported. This study aimed to explore the expression, clinicopathological features, diagnostic, and prognostic values of DiGeorge syndrome critical region gene 5 in ovarian cancer. The total levels of DiGeorge syndrome critical region gene 5 transcript variant 1 (NR_002733.2) and 2 (NR_045121.1) in patients with ovarian cancer were determined by quantitative reverse transcription polymerase chain reaction. The correlation of DiGeorge syndrome critical region gene 5 expression with clinicopathological factors was statistically analyzed by χ2 test. Overall survival analysis was carried out with the Kaplan–Meier curves with the log-rank test. Univariate and multivariate Cox regression analyses were performed to identify the prognostic significance of DiGeorge syndrome critical region gene 5 expression. Receiver operating characteristic curves were constructed to estimate the diagnostic and prognostic usefulness of DiGeorge syndrome critical region gene 5 in ovarian cancer. Results showed that relative DiGeorge syndrome critical region gene 5 expression was reduced by 36.81% and 65.79% in ovarian cancer tissues of patients and Gene Expression Omnibus DataSets (GSE119056) in contrast to normal tissues, respectively. Patients with lymph node metastasis and distant metastasis exhibited lower levels of DiGeorge syndrome critical region gene 5 in contrast to those patients with non-lymph node metastasis and non-distant metastasis, respectively. Low expression of DiGeorge syndrome critical region gene 5 was significantly associated with large tumor size, more lymph node metastasis, present distant metastasis, advanced clinical stage, and short overall survival in patients with ovarian cancer. Low expression of DiGeorge syndrome critical region gene 5 was an independent unfavorable prognostic factor for overall survival in patients with ovarian cancer. Receiver operating characteristics curves for prognosis yielded significant area under curves for lymph node metastasis, clinical stage, and overall survival. In conclusion, our study demonstrated that downregulated DiGeorge syndrome critical region gene 5 may be a new promising biomarker for predicting clinical progression and prognosis in patients with ovarian cancer.

scholarly journals Preclinical 89Zr Immuno-PET of High-Grade Serous Ovarian Cancer and Lymph Node Metastasis

2016 ◽  
Vol 57 (5) ◽  
pp. 771-776 ◽  
Author(s):  
S. K. Sharma ◽  
K. K. Sevak ◽  
S. Monette ◽  
S. D. Carlin ◽  
J. C. Knight ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Lymph Node ◽  
Lymph Node Metastasis ◽  
High Grade ◽  
Serous Ovarian Cancer ◽  
Node Metastasis

scholarly journals High α B-crystallin and p53 co-expression is associated with poor prognosis in ovarian cancer

2019 ◽  
Vol 39 (6) ◽  
Author(s):  
Lin Tan ◽  
Ling Sha ◽  
Ning Hou ◽  
Mei Zhang ◽  
Qian Ma ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Lymph Node ◽  
Lymph Node Metastasis ◽  
Cancer Patients ◽  
Distant Metastasis ◽  
Tumor Size ◽  
Prognostic Value ◽  
Pathological Grade ◽  
P53 Expression ◽  
Node Metastasis

Abstract Objectives: The present study investigated the correlation between α B-crystallin (CRYAB, HSPB5) and p53 expression in ovarian cancer and further analyzed the relationship between their expression and clinicopathology and the prognostic value of their co-expression in ovarian cancer. Methods: CRYAB and p53 expression was assessed using immunohistochemistry on ovarian cancer tumor tissues from 103 cases and validated in an independent group of 103 ovarian cancer patients. Results: High CRYAB and p53 expression rates in ovarian cancer tissues were 61.17% (63/103) and 57.28% (59/103), respectively, and their expression was positively correlated (r = 0.525, P=0.000). High CRYAB expression was significantly correlated with tumor size (P=0.028), lymph node metastasis (P=0.000), distant metastasis (P=0.005), tumor node metastasis (TNM) stage (P=0.002), and survival (P=0.000), while high p53 expression was significantly correlated with tumor size (P=0.006), pathological grade (P=0.023), lymph node metastasis (P=0.001), and survival (P=0.000). Further studies found that the high CRYAB and p53 co-expression was also significantly correlated with pathological grade (P=0.024), lymph node metastasis (P=0.000), Distant metastasis (P=0.015), TNM stage (P=0.013), and survival (P=0.000). High expression of either CRYAB or p53 and high co-expression of CRYAB and p53 were significantly correlated with poor disease-free survival (DFS) and overall survival (OS), respectively (P<0.05). Patients with high CRYAB and p53 co-expression had the worst prognoses among the groups. In addition, multivariate Cox regression models showed that high expression of either CRYAB or p53 and high co-expression of CRYAB and p53 were independent prognostic factors for DFS and OS (P<0.05). Moreover, the positive correlation and prognostic value of CRYAB and p53 expression were verified in another independent dataset. Conclusions: We demonstrated that patients with high CRYAB and p53 co-expression in ovarian cancer have significantly increased risks of recurrence, metastasis, and death compared with other patients. Therefore, more frequent follow-up of patients with high CRYAB and p53 co-expression is required. Our results also suggest that combination therapy with CRYAB inhibitors and p53 blockers may benefit future treatment of ovarian cancer patients with high co-expression of CRYAB and p53.

The Prognosis and Clinicopathological Characteristics of Metaplastic Breast Cancer: A Meta-Analysis.

2021 ◽  
Author(s):  
Xiaolu Yang ◽  
Tao Zhou
Keyword(s):  
Breast Cancer ◽  
Lymph Node ◽  
Distant Metastasis ◽  
Histological Grade ◽  
Meta Analysis ◽  
Clinicopathological Characteristics ◽  
Tnm Staging ◽  
Tumor Diameter ◽  
Metaplastic Breast Cancer ◽  
Node Metastasis

Abstract Background: Due to the rarity of metaplastic breast cancer (MBC), the prognosis and clinicopathologic-al characteristics of MBC patients are still inconclusive. Large-sample retrospective analysis is still lacking at present.This study aims to conduct a meta-analysis of relevant literature on MBC at home and abroad to obtain the prognostic and clinicopathological characteristics of MBC.Methods: Cohort studies or case-control studies comparing MBC and triple-negative breast cancer (TNBC) were searched through the internet, and the quality of the included studies was evaluated using the Newcastle-Ottawa scale (NOS). A total of 9 studies with NOS scores of > 6 were included. Meta-analysis was performed using the Review Manager 5.3 provided by the Cochrane Collaboration Network. The hazard ratio (HR) evaluate the disease-free survival (DFS) and overall survival (OS), and the odds ratio (OR) was used to evaluate clinicopathological characteristics, including age, tumor diameter, lymph node metastasis status, distant metastasis status, TNM staging, and histological grade. According to the heterogeneity of the included studies, random effects model or fixed effects model was used.Results: Compared with TNBC patients, the HR value for 5-year DFS and 5-year OS of MBC patients was 1.64 (95%CI: 1.36-1.98) and 1.52 (95%CI: 1.27-1.81), respectively. The total OR value for age> 50 years old, tumor diameter ≤ 2cm, lymph node positive, distant metastasis, TNM stage III and above, and histological grade 3 was 1.63 (95%CI: 1.45-1.84), 0.29 (95% CI: 0.14-0.58), 0.68 (95%CI: 0.53-0.88), 1.59 (95%CI: 0.89-2.81), 1.49 (95 %CI: 0.80-2.77), and 2.25 (95%CI: 0.85-5.97), respectively.Conclusion: MBC patients are less likely to have lymph node metastasis and had worse DFS and OS than TNBC patients, which may be related to the pathological characteristics of MBC patients being related to sarcoma. But this also requires verification and further research with large sample sizes. In addition, there were no statistical differences in distant metastasis, TNM staging, and histological grade between MBC and TNBC patients.

Clinicopathological features of lipid cell variant of urothelial carcinoma.

2018 ◽  
Vol 36 (6_suppl) ◽  
pp. 487-487
Author(s):  
Tatsuro Hayashi ◽  
Go Kimura ◽  
Keigo Takahashi ◽  
Keita Shibayama ◽  
Kotaro Obayashi ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Lymph Node ◽  
Urothelial Carcinoma ◽  
Cancer Patients ◽  
Distant Metastasis ◽  
Disease Free Survival ◽  
Clinicopathological Characteristics ◽  
High Grade ◽  
Small Series ◽  
Cell Variant

487 Background: Lipid cell variant (LCV) of urothelial carcinoma (UC) which was first described by Mostofi et al in 1999 is a very rare variant of UC. Because it has only been documented in occasional case reports and a small series about this variant since then, clinicopathological characteristics of LCV are not yet clarified. In this study, we assessed the clinicopathological characteristics of LCV experienced in our hospital. Methods: The medical records of patients with LCV, who were treated in our hospital between September 2015 and September 2017, were retrospectively reviewed and analyzed. Results: In this period, of 301 patients undergoing TURBT and 42 patients undergoing nephroureterectomy, 13 patients including 10 patients with bladder cancer and 3 with pelvic ureter cancer, were found to be diagnosed as LCV of UC at our hospital. The median observation period of these patients was 6 months (IQR, 4-9 months). Among 10 bladder cancer patients who had confirmed this variant in transurethral resection of bladder tumor (TURBT) specimens, all cases had concurrent high-grade UC and the most cases had tumor features including pT2 or more local stages and lympho-vascular invasion (LVI) positive. Co-existence of micropapillary and/or plasmacytoid variant were seen in 5 patients. Lymph node metastases were observed in 3 patients, and this variant was histologically confirmed within the lymph node metastatic tissue in one case. No patient had distant metastasis. Among 3 pelvic ureter cancer patients who had undergone nephroureterectomy, all cases had concurrent high-grade UC and the most cases had tumor features including pT3 local stage and LVI positive. Micropapillary variant was coexisted in one patient. No patient had distant metastasis. 7 patients were no evidence of disease and 6 were alive with disease. The estimated median time from surgery to recurrence was not reached. The 6-months disease-free survival rate was 59%. Conclusions: LCV is seen in the patients who have high-grade UC, and tends to be accompanied with other aggressive variants including micropapillary and plasmacytoid. All patients with this variant had advanced stage cancer at presentation with high recurrence rates.

scholarly journals Risk Factors, Prognostic Factors, and Nomogram for Distant Metastasis in Breast Cancer Patients Without Lymph Node Metastasis

2021 ◽  
Vol 12 ◽  
Author(s):  
Yu Min ◽  
Xiaoman Liu ◽  
Daixing Hu ◽  
Hang Chen ◽  
Jialin Chen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Lymph Node ◽  
Lymph Node Metastasis ◽  
Cancer Patients ◽  
Distant Metastasis ◽  
Clinicopathological Characteristics ◽  
Risk Level ◽  
Breast Cancer Patients ◽  
Node Metastasis

BackgroundLymph node negative (N0) breast cancer can be found coexisting with distant metastasis (DM), which might consequently make clinicians underestimate the risk of relapse and insufficient treatment for this subpopulation.MethodsThe clinicopathological characteristics of N0 breast cancer patients from the Surveillance, Epidemiology, and End Results (SEER) database between January 2010 and December 2015 were retrospectively reviewed. Multivariate logistic and Cox analyses were used to identify independent risk factors in promoting DM and the 1-, 3-, and 5- year cancer-specific survival (CSS) in this subpopulation.ResultSeven factors including age (&lt;40 years), tumor size (&gt;10 mm), race (Black), location (central), grade (poor differentiation), histology (invasive lobular carcinoma), and subtype (luminal B and Her-2 enriched) were associated with DM, and the area under curve (AUC) was 0.776 (95% CI: 0.763–0.790). Moreover, T1-3N0M1 patients with age &gt;60 years at diagnosis, Black race, triple-negative breast cancer subtype, no surgery performed, and multiple DMs presented a worse 1-, 3-, and 5-year CSS. The areas under the ROC for 1-, 3-, and 5- year CSS in the training cohort were 0.772, 0.741, and 0.762, respectively, and 0.725, 0.695, and 0.699 in the validation cohort.ConclusionThe clinicopathological characteristics associated with the risk of DM and the prognosis of female breast cancer patients without lymph node metastasis but with DM are determined. A novel nomogram for predicting 1-, 3-, 5- year CSS in T1-3N0M1 patients is also well established and validated, which could help clinicians better stratify patients who are at a high-risk level for receiving relatively aggressive management.

Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome

2020 ◽  
Vol 50 (12) ◽  
pp. 1380-1385
Author(s):  
Takashi Mitamura ◽  
Masayuki Sekine ◽  
Masami Arai ◽  
Yuka Shibata ◽  
Momoko Kato ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Lymph Node ◽  
Family History ◽  
Lymph Node Metastasis ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Node Metastasis ◽  
Increased Risk ◽  
History Of

Abstract Background To establish an individualized surgical strategy for lymphadenectomy in ovarian cancer patients with the germline BRCA1 and BRCA2 pathogenic variants (BRCA1+ and BRCA2+), we investigated the clinicopathological characteristics that are involved in the increased risk of lymph node metastasis. Methods We retrospectively reviewed the data of Japanese women registered in the database of the Japanese Hereditary Breast and Ovarian Cancer Consortium, who underwent BRCA1 and BRCA2 genetic testing. Results We evaluated the predictors of lymph node metastasis in all patients with the information of age at the diagnosis, disease site, histological subtype, 2014 FIGO stage, personal breast cancer history and family history; 233, 153 and 32 patients in the BRCA− (no pathogenic variant), BRCA1+ and BRCA2+ groups, respectively. The prevalence of lymph node metastasis was not markedly different between BRCA− (20.0%), BRCA1+ (18.4%) and BRCA2+ (26.2%). Multivariate analysis revealed an absence of a family history of ovarian cancer as an independent predictor for an increased risk of lymph node metastasis in BRCA1+, and the prevalence of lymph node metastasis was 11.7 and 42.0% in the groups with and without a family history of ovarian cancer, respectively. This subgroup without a family history of ovarian cancer did not show any correlation with a particular variant of BRCA1, including two common variants of c.188 T &gt; A and c.2800C &gt; T. Conclusions This study suggested that certain genetic factors related to the penetrance of hereditary breast and ovarian cancer syndrome altered the frequency of lymph node metastasis in BRCA1+ ovarian cancer, and family history may be useful to personalize the indication of lymphadenectomy.

scholarly journals Tumour-Infiltrating Lymphocytes (TILs) and PD-L1 Expression Correlate with Lymph Node Metastasis, High-Grade Transformation and Shorter Metastasis-Free Survival in Patients with Acinic Cell Carcinoma (AciCC) of the Salivary Glands

Cancers ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 965
Author(s):  
Selina Hiss ◽  
Markus Eckstein ◽  
Patricia Segschneider ◽  
Konstantinos Mantsopoulos ◽  
Heinrich Iro ◽  
...  
Keyword(s):  
Lymph Node ◽  
Lymph Node Metastasis ◽  
Lymph Node Metastases ◽  
Immune Cell ◽  
High Grade ◽  
Free Survival ◽  
Node Metastasis ◽  
Node Metastases ◽  
High Grade Transformation ◽  
Infiltrating Lymphocytes

Objectives: The aim of this study was to assess the number of tumour-infiltrating lymphocytes (TILs) and the expression of Programmed Cell Death 1 Ligand 1 (PD-L1) in Acinic Cell Carcinoma (AciCC) of the salivary glands, to enable a correlation with clinico-pathological features and to analyse their prognostic impact. Methods: This single centre retrospective study represents a cohort of 36 primary AciCCs with long-term clinical follow-up. Immunohistochemically defined immune cell subtypes, i.e., those expressing T-cell markers (CD3, CD4 and CD8) or a B-cell marker (CD20) were characterized on tumour tissue sections. The number of TILs was quantitatively evaluated using software for digital bioimage analysis (QuPath). PD-L1 expression on the tumour cells and on immune cells was assessed immunohistochemically employing established scoring criteria: tumour proportion score (TPS), Ventana immune cell score (IC-Score) and combined positive score (CPS). Results: Higher numbers of tumour-infiltrating T- and B- lymphocytes were significantly associated with high-grade transformation. Furthermore, higher counts of T-lymphocytes correlated with node-positive disease. There was a significant correlation between higher levels of PD-L1 expression and lymph node metastases as well as the occurrence of high-grade transformation. Moreover, PD-L1 CPS was associated with poor prognosis regarding metastasis-free survival (p = 0.049). Conclusions: The current study is the first to demonstrate an association between PD-L1 expression and lymph node metastases as well as grading in AciCCs. In conclusion, increased immune cell infiltration of T and B cells as well as higher levels of PD-L1 expression in AciCC in association with high-grade transformation, lymph node metastasis and unfavourable prognosis suggests a relevant interaction between tumour cells and immune cell infiltrates in a subset of AciCCs, and might represent a rationale for immune checkpoint inhibition.

scholarly journals Tumour Versus Germline BRCA Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 547
Author(s):  
Iolia Akaev ◽  
Siavash Rahimi ◽  
Olubukola Onifade ◽  
Francis John Edward Gardner ◽  
David Castells-Rufas ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Unknown Origin ◽  
Parp Inhibitors ◽  
Serous Carcinoma ◽  
High Grade ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Epithelial Cancers ◽  
Pathogenic Variants ◽  
Pathogenic Mutations

The aim of this audit was to evaluate the usefulness and serviceability of testing for pathogenic mutations in BRCA1 or BRCA2 (BRCA1/2) genes in ovarian cancer (OC) patients. One hundred and thirty-five patients with more common histological sub-types of OC were retrospectively identified between 2011 and 2019. The fail rate of the molecular analysis was 7.4% (10/135). One hundred and twenty-five records were evaluated: 99 (79.2%) patients had wild-type BRCA (both somatic and germline); tumour BRCA1/2 (tBRCA1/2) pathogenic mutations were found in 20 (16%) patients with distribution between BRCA1 and BRCA2 being 40% and 60%, respectively; 13 (10.4%) patients with pathogenic variants had germline mutations; and tBRCA1/2 with variant of unknown significance (VUS), in the absence of pathogenic BRCA1 or BRCA2 variants, was detected in 6 (4.8%) patients. Our data show that expanding the molecular service to the routine first-tumour testing for patients with OC will potentially increase the detection rate of BRCA mutations, thereby providing early benefits of PARP inhibitors therapy. The tumour testing service should continue to be offered to newly diagnosed patients with high-grade epithelial cancers, including high-grade serous carcinoma, but also with carcinosarcomas and poorly-differentiated metastatic adenocarcinomas of unknown origin.

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