AKR1B10 expression characteristics in hepatocellular carcinoma and its correlation with clinicopathological features and immune microenvironment.

Hepatocellular carcinoma (HCC) represents a major global health threat with diverse and complex pathogenesis. Aldo-keto reductase family 1 member B10 (AKR1B10), a tumor-associated enzyme, exhibits abnormal expression in various cancers. However, a comprehensive understanding of AKR1B10's role in HCC is lacking. This study aims to explore the expression characteristics of AKR1B10 in HCC and its correlation with clinicopathological features, survival prognosis, and tumor immune microenvironment, further investigating its role and potential regulatory mechanisms in HCC. This study conducted comprehensive analyses using various bioinformatics tools and databases. Initially, differentially expressed genes related to HCC were identified from the GEO database, and the expression of AKR1B10 in HCC and other cancers was compared using TIMER and GEPIA databases, with validation of its specificity in HCC tissue samples using the HPA database. Furthermore, the relationship of AKR1B10 expression with clinicopathological features (age, gender, tumor size, staging, etc.) of HCC patients was analyzed using the TCGA database's LIHC dataset. The impact of AKR1B10 expression levels on patient prognosis was evaluated using Kaplan-Meier survival analysis and the Cox proportional hazards model. Additionally, the correlation of AKR1B10 expression with tumor biology-related signaling pathways and tumor immune microenvironment was studied using databases like GSEA, Targetscan, and others, identifying microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) that regulate AKR1B10 expression to explore potential regulatory mechanisms. Elevated AKR1B10 expression was significantly associated with gender, primary tumor size, and fibrosis stage in HCC tissues. High AKR1B10 expression indicated poor prognosis and served as an independent predictor for patient outcomes. Detailed mechanism analysis revealed a positive correlation between high AKR1B10 expression, immune cell infiltration, and pro-inflammatory cytokines, suggesting a potential DANCR-miR-216a-5p-AKR1B10 axis regulating the tumor microenvironment and impacting HCC development and prognosis. The heightened expression of AKR1B10 in HCC is not only related to significant clinical-pathological traits but may also influence HCC progression and prognosis by activating key signaling pathways and altering the tumor immune microenvironment. These findings provide new insights into the role of AKR1B10 in HCC pathogenesis and highlight its potential as a biomarker and therapeutic target.

PCDH8 is a novel prognostic biomarker in thyroid cancer and promotes cell proliferation and viability.

Protocadherin 8 (PCDH8), a calcium-dependent transmembrane protein in the protocadherin family, regulates cell adhesion and signal transduction. While some studies have provided indirect evidence that PCDH8 has cancer-promoting properties, this association is controversial. In particular, its involvement in thyroid cancer (THCA) remains unclear. We aimed to elucidate the role of PCDH8 in THCA using bioinformatic analysis. Subsequently, the results were experimentally validated. The analysis conducted using the R programming language and online web tools explored PCDH8 expression levels, prognostic, and clinical implications, and its relationship with the tumor immune microenvironment in THCA. Furthermore, we examined the association between PCDH8 and co-expressed genes, highlighting their involvement in several biological processes relevant to THCA. The potential of PCDH8 as a therapeutic target for this pathology was also explored. Immunohistochemical (IHC) staining was performed on samples from 98 patients with THCA, and experimental validation was carried out. PCDH8 was significantly elevated in cancer tissues and associated with poor prognosis, several clinical factors, and immune cell and checkpoint abundance. Cox regression and survival analyses, together with Receiver Operating Curves (ROC) indicated that PCDH8 was an independent prognostic factor for THCA. Furthermore, PCDH8 impacts cell viability and proliferation, promoting tumorigenesis. Also, it influences tumor cell sensitivity to various drugs. Thus, PCDH8 might be a potential therapeutic target for THCA. IHC, cell culture, MTT, and colony formation experiments further confirmed our findings. This analysis provided insights into the potential carcinogenic role of PCDH8 in THCA, as it impacts cell viability and proliferation. Thus, PCDH8 might play an important role in its prognosis, immune infiltration, and diagnosis.

Prognostic significance of circulating tumor cell measurement in the peripheral blood of patients with nasopharyngeal carcinoma.

OBJECTIVE: Nasopharyngeal Carcinoma (NPC) is lethal cancer. Typically, relapse and metastasis are the outcomes of most patients. Against this backdrop, this study aimed to investigate the correlation between Circulating Tumor Cell (CTC) profiles and clinicopathological features in patients with NPC. PATIENTS AND METHODS: A total of 119 blood samples from 79 patients were collected from patients with NPC during treatment. CanPatrolTM CTC enrichment and RNA In Situ Hybridization (RNA-ISH) were used to characterize CTCs, including epithelial, Mesenchymal (MCTCs), and epithelial/mesenchymal mixed types according to their surface markers. RESULTS: The number of CTCs and MCTCs in the pre-treatment group was significantly higher than that in the post-treatment group (p < 0.05). The total number of CTCs and MCTCs cell numbers was significant correlation with Tumor-Node-Metastasis (TNM) staging (p < 0.05), Progression-Free Survival (PFS), and Overall Survival (OS). The PFS of patients with > 7 CTCs or > 5 MCTCs per 5 mL blood was significantly shorter PFS than those patients with ≤ 7 CTCs or ≤ 5 MCTCs (p < 0.05). Patients treated with targeted therapy combined with chemoradiotherapy had poorer PFS and OS rates than those treated with chemoradiotherapy (p < 0.05). The Kaplan-Meier survival analysis also demonstrated that patients with changes in CTC > 4 were strongly associated with PFS and OS rates (p < 0.05). CONCLUSION: CTC and MCTC number detection in patients with NPC is a useful biomarker for predicting patient progress. Patients with more than 7 CTCs or 5 MCTCs in 5 mL of blood had shorter PFS and OS rates. CTC and MCTC count changes were also significantly associated with the patient's therapy.

Prognostic significance of circulating tumor cell measurement in the peripheral blood of patients with nasopharyngeal carcinoma

Abstract Objective: Nasopharyngeal Carcinoma (NPC) is lethal cancer. Typically, relapse and metastasis are the outcomes of most patients. Against this backdrop, this study aimed to investigate the correlation between Circulating Tumor Cell (CTC) profiles and clinicopathological features in patients with NPC. Patients and methods: A total of 119 blood samples from 79 patients were collected from patients with NPC during treatment. CanPatrol™ CTC enrichment and RNA In Situ Hybridization (RNA-ISH) were used to characterize CTCs, including epithelial, Mesenchymal (MCTCs), and epithelial/mesenchymal mixed types according to their surface markers. Results: The number of CTCs and MCTCs in the pre-treatment group was significantly higher than that in the post-treatment group (p < 0.05). The total number of CTCs and MCTCs cell numbers was significant correlation with Tumor-Node-Metastasis (TNM) staging (p < 0.05), Progression-Free Survival (PFS), and Overall Survival (OS). The PFS of patients with > 7 CTCs or > 5 MCTCs per 5 mL blood was significantly shorter PFS than those patients with ≤ 7 CTCs or ≤ 5 MCTCs (p < 0.05). Patients treated with targeted therapy combined with chemoradiother-apy had poorer PFS and OS rates than those treated with chemoradiotherapy (p < 0.05). The Kaplan-Meier survival analysis also demonstrated that patients with changes in CTC > 4 were strongly associated with PFS and OS rates (p < 0.05). Conclusion: CTC and MCTC number detection in patients with NPC is a useful biomarker for predicting patient progress. Patients with more than 7 CTCs or 5 MCTCs in 5 mL of blood had shorter PFS and OS rates. CTC and MCTC count changes were also significantly associated with the patient's therapy.

Relationship between DHX15 expression and survival in colorectal cancer

Objective: to explore the relationship between the expression of DEAH-box RNA helicase 15 (DHX15) in colorectal cancer (CRC), its clinical pathological features and survival. Method: DHX15 expression data with clinical pathological features from the Cancer Gene Atlas (TCGA) and the Clinical Proteomic Tumor Analysis Consortium (CPTAC) were statistically analyzed for the association between DHX15 expression and overall survival in CRC. The expression of DHX15 was performed by immunohistochemical staining (IHC) using tumor and the adjacent normal tissue, mounted in tissue microarrays. The significance of DHX15 expression to predict survival and prognosis of CRC were analyzed using the Kaplan-Meier method, univariate and multivariate Cox regression analysis. Results: low expression of DHX15 mRNA and DHX15 protein in CRC were both negative factors for survival. Overall survival of patients with low-expression of DHX15 was significantly lower (χ2 = 8.452, p = 0.004) by Kaplan-Meier evaluation. Low expression of DHX15 in CRC tissues correlated with distal lymph node metastasis (χ² = 7.120, p = 0.008), TNM stage (χ² = 3.935, p = 0.047) and disease recurrence (χ² = 9.524, p = 0.002) in CRC. Low expression of DHX15 (HR = 4.012, 95 % CI: 1.462-11.013, p = 0.007), late TNM stage (HR = 0.067, 95 % CI: 0.029-0.156, p < 0.001) and recurrence (HR = 0.008, 95 % CI: 0.002-0.034, p < 0.001) were risk factors related to the prognosis of CRC patients by univariate Cox regression analysis. Conclusion: our findings reveal a key role for DHX15 in the progress of CRC metastasis and recurrence. DHX15 may be a potential biomarker for CRC targeted therapy (AU)

The prognostic value of aspartate beta-hydroxylase in early breast cancer.

PURPOSE: Aspartate beta-hydroxylase (ASPH) is a transmembrane protein involved in cancer progression, which has been shown to imply a worse prognosis in several solid tumors. The aim of the present study was to further investigate the prognostic value of ASPH in early breast cancer. METHODS: ASPH expression was investigated through immunohistochemistry in a cohort of 153 breast cancer patients with long-term follow-up, and correlated with clinical-pathological features plus all-cause and breast-cancer-specific mortality. Appropriate statistics were utilized. RESULTS: ASPH negatively correlated with all-cause and breast-cancer-specific mortality. CONCLUSIONS: The results of this cohort study support the prognostic value of ASPH in early breast cancer.

Concurrent RAS and RAS/BRAF V600E Variants in Colorectal Cancer: More Frequent Than Expected? A Case Report.

The assessment of RAS and BRAF mutational status is one of the main steps in the diagnostic and therapeutic algorithm of metastatic colorectal cancer (mCRC). Multiple mutations in the BRAF and RAS pathway are described as a rare event, with concurrent variants in KRAS and BRAF genes observed in approximately 0.05% of mCRC cases. Here, we report data from a case series affected by high-risk stage III and stage IV CRC and tested for RAS and BRAF mutation, treated at our Medical Oncology Unit. The analysis of KRAS, NRAS (codons 12, 13, 59, 61, 117, 146), and BRAF (codon 600) hotspot variants was performed in 161 CRC tumors from August 2018 to September 2021 and revealed three (1.8%) patients showing mutations in both KRAS and BRAF (V600E), including two cases with earlier CRC and one with metastatic disease. We also identified one patient (0.6%) with a mutation in both KRAS and NRAS genes and another one (0.6%) with a double KRAS mutation. Notably, the latter was characterized by aggressive behavior and poor clinical outcome. The mutational status, pathological features, and clinical history of these five CRC cases are described. Overall, this study case series adds evidence to the limited available literature concerning both the epidemiological and clinical aspects of CRC cases characterized by the presence of concurrent RAS/BRAF variants. Future multicentric studies will be required to increase the sample size and provide additional value to results observed so far in order to improve clinical management of this subgroup of CRC patients.

Sarcopenia predicts an adverse prognosis in patients with combined hepatocellular carcinoma and cholangiocarcinoma after surgery.

BACKGROUND: The prognostic value of sarcopenia in combined hepatocellular carcinoma and cholangiocarcinoma (cHCC-CC) patients after surgery has not been evaluated, while the efficacy of the available tumor stage for cHCC-CC remains controversial. METHODS: All consecutive cHCC-CC patients after surgery were retrieved. The patients were stratified by the sex-specific medians of the psoas muscle index into groups with or without sarcopenia. Prognosis was analyzed using the Kaplan-Meier (K-M) method, and the K-M curves were adjusted by inverse probability weighting (IPW). A nomogram based on Cox regression analysis was established and further compared with primary liver cancer (PLC) stages by internal validation based on bootstrap resampling and k-fold cross-validation. RESULTS: A total of 153 patients were stratified into sarcopenia and non-sarcopenia groups. The sarcopenia group revealed statistically worse overall survival (OS) and disease-free survival (DFS) using the K-M method and K-M curves adjusted by IPW. Multivariate Cox regression analyses suggested sarcopenia as an independent risk factor for OS (HR = 1.55; p = 0.040) and DFS (HR = 1.55; p = 0.019). Subgroup analysis based on baseline variables showed sarcopenia as a stable risk factor for the prognosis. Our nomogram outperformed PLC stages in prognostic prediction, as evidenced by the best c-index, area under the curve, and positive improvement of the net reclassification index and integrated discrimination improvement. A fivefold cross-validation revealed consistent results. Decision curve analysis revealed higher net benefits of the nomogram than PLC stages. CONCLUSIONS: Sarcopenia is an independent and stable risk factor for the prognosis of cHCC-CC patients after surgery. Our nomogram might aid high-risk patient identification and clinical decisions.

KIF2C promotes the proliferation of hepatocellular carcinoma cells in vitro and in vivo.

Hepatocellular carcinoma (HCC) is one of the most common malignancies with high mortality and morbidity rates. In recent years, HCC targeted therapy has gained increasing attention. Due to the heterogeneity and high metastasis of HCC, more effective therapeutic targets are needed. Kinesin family member 2C (KIF2C), also known as mitotic centromere-associated kinesin, is a microtubule-based motor protein which is involved in a variety of important cellular processes, such as mitosis. The effects of KIF2C on cancer progression and development have been widely studied; however, its potential effects on HCC remains unclear. In the present study, high expression of KIF2C in human HCC tissues was demonstrated using The Cancer Genome Atlas database and immunohistochemistry assays. KIF2C expression was associated with HCC prognosis, including overall survival and disease-free survival. KIF2C expression was also associated with clinical pathological characteristics including the number of tumor nodes (P=0.015) and tumor size (P=0.009). KIF2C knockdown inhibited the proliferation of HCC cells in vitro, confirmed by MTT and colony formation assays, and suppressed tumor growth in mice which was confirmed by a xenograft mouse model. Together, the results suggested that KIF2C may serve as a promising therapeutic target for the treatment of HCC.

Clinical and pathological features and risk factors for primary breast cancer patients.

BACKGROUND: Breast cancer is the most common malignancy in women all around the world. According to the latest statistics in 2018, there were more than 2.08 million new breast cancer cases all around the world and more than 620000 deaths; the proportion of breast cancer deaths in women with cancer is 15%. By studying age, clinicopathological characteristics and molecular classification, age at menarche, age at birth, number of births, number of miscarriages, lactation time, surgical history of benign breast lesions, history of gynecological diseases, and other factors, we retrospectively summarized and compared the disease history of patients with primary breast cancer and patients with benign thyroid tumors admitted to our hospital in the past 10 years to explore the clinicopathological characteristics and risk factors for primary breast cancer. AIM: To investigate the clinical and pathological features and risk factors for primary breast cancer treated at our center in order to provide a reference for the prevention and treatment of breast cancer in the Zhuhai-Macao region. METHODS: Through a retrospective case-control study, 149 patients with primary breast cancer diagnosed and treated at Zhuhai Hospital of Guangdong Provincial Hospital of Traditional Chinese Medicine from January 2013 to March 2020 were included as a case group, and 165 patients with benign breast tumors diagnosed and treated from January 2019 to March 2020 were included as a control group. The data collected included age, age at menarche, age at first birth, number of births, number of miscarriages, lactation time, history of surgery for benign breast lesions, history of familial malignant tumors, history of gynecological diseases, history of thyroid diseases, and the tumor characteristics of the patients in the case group including pathological diagnosis, pathological type, tumor size, lymph node metastasis, distant metastasis, stage, and molecular classification, among others. In the case group, the chi-square test was used to analyze the clinical and pathological features of patients in three age groups (< 40, 40-59, and ≥ 60 years). A multifactor logistic regression analysis was used to analyze correlations between the two groups. RESULTS: Among 149 patients with primary breast cancer, the average age was 48.20 ± 12.06 years, and the proportion of patients at 40-59 years old was the highest, accounting for 61.8% of cases. The molecular type was mainly luminal B type, accounting for 69.2% of cases, and at the time of diagnosis, the tumor stage was mainly stage I/II, accounting for 62.4% of cases. There were no statistically significant differences in the distributions of tumor location, pathological type, tumor size, lymph node metastasis, stage, or molecular classification among the three age groups (< 40, 40-59, and ≥ 60 years) (P ≥ 0.05). The differences in the distribution of distant metastasis among the three age groups (< 40, 40-59, and ≥ 60 years) were statistically significant (P < 0.01). The differences in lactation time, history of familial malignant tumors, history of gynecological diseases, and history of thyroid diseases between the two groups were not statistically significant (P ≥ 0.05). The differences in age at disease diagnosis, age at menarche, and history of surgery for benign breast lesions were statistically significant (P < 0.01). The difference in age at first birth was also statistically significant (P < 0.05). CONCLUSION: The highest incidence of breast cancer in the Zhuhai-Macao region is present among women aged 40-59 years. There is a larger proportion of stage I/II patients, and the luminal B type is the most common molecular subtype. Distant metastasis occurs mainly in the ≥ 60-year-old group at the first diagnosis; increased age, late age at menarche, and late age at first birth may be risk factors for primary breast cancer, and a history of surgery for benign breast lesions may be a protective factor for primary breast cancer.

Prognosis and factors affecting colorectal cancer with ovarian metastasis.

Colorectal cancer is one of the most common malignant tumors. Its incidence has been increasing in recent years, as has the number of cases of ovarian metastasis of colorectal cancer. The prognosis of colorectal cancer with ovarian metastasis is poor, and it is an important cause of death in female patients. A variety of clinicopathological factors were found to be related to the prognosis of patients with colorectal cancer with ovarian metastasis, such as menopausal status, metastasis limited to the pelvis, and tumor differentiation. Tumor genetic characteristics also provide a new perspective for the prognostic evaluation of colorectal cancer with ovarian metastasis. The prognosis of ovarian metastasis is also closely associated with treatment. The major treatment methods are prophylactic oophorectomy, surgical resection of the primary and metastatic lesions, cytoreductive surgery combined with hyperthermic intraperitoneal chemotherapy and systematic therapy. If feasible, complete surgical resection of the primary and ovarian metastatic macroscopic lesions combined with postoperative chemotherapy might currently be the most effective treatment for improving the prognosis of patients with colorectal cancer with ovarian metastasis. Genetic analysis also provides a theoretical basis for potential targeted therapy and immunotherapy.

Expression of LncRNA DLEU1 in Esophageal Squamous Cell Carcinoma and Its Effect on Proliferation and Migration of ESCC Cells / 肿瘤防治研究

Objective To investigate the expression of LncRNA DLEU1 in ESCC tissues, and its effect on the proliferation and migration of ESCC cells. Methods We collected 58 cases of ESCC tissues and corresponding para-cancerous tissues. RT-qPCR was used to detect the relative expression levels of DLEU1 in ESCC tissues and cells. Log-rank test was used to analyze the relation between the expression of DLEU1 and clinicopathological features. Kaplan-Meier analysis was used to investigate the correlation between the expression of DLEU1 and the survival of ESCC patients. Multivariate Cox regression model was used to evaluate the effect of DLEU1 on the prognosis of ESCC patients. Effects of DLEU1 on the proliferation and migration of Eca9706 cells were evaluated by CCK-8 and wound healing assays, respectively. Results DLEU1 was highly expressed in ESCC tissues (P < 0.01) and significantly correlated with tumor size, TNM stage and lymph node metastasis (all P < 0.05). High expression of DLEU1 was negatively correlated with poor prognosis of ESCC patients (P < 0.01), and DLEU1 was also an independent prognostic risk factor (P < 0.05). Moreover, knockdown of DLEU1 significantly inhibited the proliferation and migration of Eca9706 cells, compared with the control group (P < 0.01). Conclusion DLEU1 is highly expressed in ESCC tissues. The expression of DLEU1 is an independent risk factor for the prognosis of ESCC patients and promotes ESCC cell proliferation and migration.

The association of serum vitamin D-binding protein and 25-hydroxyvitamin D in pre-operative and post-operative colorectal cancer.

BACKGROUND: The association between vitamin D-binding protein (VDBP) and 25-hydroxyvitamin D (25 (OH)D) with colorectal cancer (CRC) is still ambiguous. This study was to further investigate the relationship between serum VDBP, 25 (OH)D levels and the clinical and pathological features of patients with CRC. METHODS: Enzyme-linked immunosorbent assay (ELISA) and chemiluminescence immunoassay were used to analyze the VDBP and 25(OH)D concentrations in serum. Pearson's correlation analysis was applied to evaluate the association between serum VDBP and 25(OH)D levels in CRC. Conditional logistic regression was performed to analyze the prediction value of serum VDBP or 25(OH)D as a risk factor for CRC. RESULTS: The serological levels of 25(OH)D in patients were significantly lower than in healthy individuals, while VDBP levels were significantly higher than in healthy controls. The serum VDBP in pre-operative was significantly lower than in post-operative samples, while the serum 25(OH)D from pre-operative patients was significantly higher than post-operative patients. Patients with tumors with higher stage and increased lymph node involvement had lower serum post-operative VDBP levels. In addition, our results showed that the pre-operative VDBP level is a risk factor of CRC. CONCLUSIONS: The levels of serum 25(OH)D and VDBP were both associated with CRC. Thus, serum 25(OH)D and VDBP levels might be of value in evaluating the pathogenesis and risk of CRC in the future. Moreover, serum VDBP or 25(OH)D levels were associated with patient's clinical and pathological features providing data for risk and prognostic prediction.

Prognostic value of long non-coding RNA CRNDE in gastrointestinal cancers: a meta-analysis.

PURPOSE: Numerous studies have reported that the long non-coding RNA colorectal neoplasia differentially expressed (CRNDE) plays important roles in the tumorigenesis, progression, and prognosis of various types of cancer. However, thus far, a systematic analysis of CRNDE in cancers of the digestive system has not been conducted. Thus, the aim of this meta-analysis was to explore the relationship between CRNDE expression and survival or the clinicopathological features of gastrointestinal cancer. METHODS: Eligible studies were collected from nine databases (ie, PubMed, Medline, Embase, Cochrane Library, Ovid, Science Citation Index Expanded, China Biology Medicine, Chinese National Knowledge Infrastructure, and Wanfang). The meta-analysis was conducted using the Stata SE.12 Software. The pooled hazard ratio (HR) or odds ratio (OR) with a 95% confidence interval (Cl) was used to assess the clinical value of CRNDE expression in gastrointestinal cancers. RESULTS: A total of 1,053 patients from nine articles were selected. The analysis provided evidence suggesting a significant negative correlation between high CRNDE expression and the rate of overall survival [HR=1.92, 95% CI (1.40-2.64), p<0.001] in patients with malignancies of the digestive system. A positive correlation was observed between high CRNDE expression and lymph node metastasis [OR=2.82, 95% CI (1.85-4.31), p<0.001], distant metastasis [OR=2.72, 95% CI (1.16-6.35), p=0.021], more advanced tumor-node-metastasis stage [OR=3.13, 95% CI (2.03-4.83), p<0.001], and tumor size >5 cm [OR=2.81, 95% CI (1.62-4.88), p<0.001]. In the non-colorectal cancer subgroup, high CRNDE expression predicted worse histopathological grade [OR=2.21, 95% CI (1.37-3.57), p=0.001] and depth of tumor invasion [OR=2.54, 95% CI (1.46-4.41), p=0.001]. CONCLUSION: This meta-analysis revealed that CRNDE may be an unfavorable risk factor of survival and predict advanced clinicopathological features of patients with gastrointestinal cancer. These findings emphasize the usefulness of CRNDE as a predictor of prognosis and pathological biomarker in this type of tumors.

[Clinicopathological characteristics and differential diagnosis of interdigitating dendritic cell sarcoma].

Objective: To analyze the clinicopathological features and differential diagnosis of interdigitating dendritic cell sarcoma (IDCS). Methods: The clinical pathological features of 7 IDCS were analyzed. Among them, the follow-up results of 6 cases were available. Results: Among the 7 IDCS patients, 4 cases were male and 3 were female. The age of the patients ranged from 26 to 69 years.Three cases were originated from lymph nodes and 4 cases were originated from skin, stomach, adrenal gland and mesentery, respectively. Microscopically, the tumor cells presented as fascicular and storiform proliferation and infiltrated by lymphocytes. The tumor cells were short-spindle or ovoid, with indistinct border of cytoplasm. The immunohistochemistry results showed that tumor cells were S-100, Vim, CD68 and CD163 positive, and AE1/AE3, EMA, CD117, CD34, Desmin, SMA, CD1α, CD21, CD23, CD35, HMB45, Melan-A, MelanPan and ALK negative.The BRAF mutation and clonal rearrangement of T and B cells were not detected. Among the follow-up period of 7 IDCS patients, 3 occurred disease progressions. Conclusions: IDCS is extremely rare with unique pathological features, and its lesion is not limited to the lymph node. The IDCS patients with extensive lesions may have worse prognose. The differential diagnosis of IDCS includes other histiocytic and dendritic cell neoplasms, malignant melanoma and soft tissue neoplasms.

Clinicopathological characteristics and differential diagnosis of interdigitating dendritic cell sarcoma / 中华肿瘤杂志

Objective@#To analyze the clinicopathological features and differential diagnosis of interdigitating dendritic cell sarcoma (IDCS).@*Methods@#The clinical pathological features of 7 IDCS were analyzed. Among them, the follow-up results of 6 cases were available.@*Results@#Among the 7 IDCS patients, 4 cases were male and 3 were female. The age of the patients ranged from 26 to 69 years.Three cases were originated from lymph nodes and 4 cases were originated from skin, stomach, adrenal gland and mesentery, respectively. Microscopically, the tumor cells presented as fascicular and storiform proliferation and infiltrated by lymphocytes. The tumor cells were short-spindle or ovoid, with indistinct border of cytoplasm. The immunohistochemistry results showed that tumor cells were S-100, Vim, CD68 and CD163 positive, and AE1/AE3, EMA, CD117, CD34, Desmin, SMA, CD1α, CD21, CD23, CD35, HMB45, Melan-A, MelanPan and ALK negative.The BRAF mutation and clonal rearrangement of T and B cells were not detected. Among the follow-up period of 7 IDCS patients, 3 occurred disease progressions.@*Conclusions@#IDCS is extremely rare with unique pathological features, and its lesion is not limited to the lymph node. The IDCS patients with extensive lesions may have worse prognose. The differential diagnosis of IDCS includes other histiocytic and dendritic cell neoplasms, malignant melanoma and soft tissue neoplasms.

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.

In this study, a customized amplicon-based target sequencing panel was designed to enrich the whole exon regions of six genes associated with the risk of breast cancer. Targeted next-generation sequencing (NGS) was performed for 146 breast cancer patients (BC), 71 healthy women with a family history of breast cancer (high risk), and 55 healthy women without a family history of cancer (control). Sixteen possible disease-causing mutations on four genes were identified in 20 samples. The percentages of possible disease-causing mutation carriers in the BC group (8.9%) and in the high-risk group (8.5%) were higher than that in the control group (1.8%). The BRCA1 possible disease-causing mutation group had a higher prevalence in family history and triple-negative breast cancer, while the BRCA2 possible disease-causing mutation group was younger and more likely to develop axillary lymph node metastasis (P < 0.05). Among the 146 patients, 47 with a family history of breast cancer were also sequenced with another 14 moderate-risk genes. Three additional possible disease-causing mutations were found on PALB2, CHEK2, and PMS2 genes, respectively. The results demonstrate that the six-gene targeted NGS panel may provide an approach to assess the genetic risk of breast cancer and predict the clinical prognosis of breast cancer patients.

The clinical value of detecting circulating tumour cells in the peripheral blood of nasopharyngeal carcinoma patients.

The aim of the present study as to analyse the associations between circulating tumour cells (CTCs) and the clinical parameters of nasopharyngeal carcinoma (NPC). Peripheral blood (7.5 ml) from 68 first-diagnosed NPC patients was collected to detect and identify CTCs by cluster of differentiation (CD)45 immunomagnetic separation. Immunofluorescent staining of cytokeratin-18, CD45 and DAPI, and fluorescence in situ hybridization were combined with the centromere of chromosome 8 (CEP8) probe method to analyse the associations between CTCs and clinical parameters. One-year follow-up of the NPC patients who received standardized treatment was also performed to analyse the associations between CTCs, tumour development and the treatment effect. The detection rate of CTCs in the 68 NPC patients was 98.5% and the positive rate of CTCs was 60.3%. The positive rates of CTCs in the I-III and IV stage patients were 51.1 and 78.3%, respectively; the rate was 90.0% in the M1 stage and 55.2% in the M0 stage. The differences were statistically significant (P<0.05). The mean CTC counts were 3.86±2.36 and 5.70±2.91 in the M0 and M1 stages, respectively, which was significantly different (P=0.031). The 12-month follow-up record suggested tumour progression for 17 patients, and the one-year progress free survival rate was 74.6%. Among the CTC-positive stages III-IV patients, the disease progression rate of the patients who had received treatment including chemotherapy/intensity-modulated radiation therapy (IMRT) was 83.3%, which was higher than that of the patients who received treatment including chemotherapy/IMRT/chemotherapy, and the difference was statistically significant (P<0.05). The results of the present study suggested that CTCs were closely associated with the stages of NPC. The later clinical stages may have higher CTC-positive rates for NPC. Treatment with chemotherapy/IMRT/chemotherapy may be more effective for CTC-positive patients in stages III-IV than the use of chemotherapy/IMRT.

HLA-G Gene Polymorphism in Egyptian Patients with Non-Hodgkin Lymphoma and its Clinical Outcome.

BACKGROUND: Non-Hodgkin lymphoma (NHL) is a major cancer in Egypt and worldwide and has many risk factors including genes involved in the immune response. AIM: we investigated the HLA-G 14bp gene polymorphism as a risk factor for NHL and its clinic pathologic features. The study involved 150 patients with NHL and 100 healthy control. Full histories, clinical examination, C.T scan and laboratory investigations such as CBC, LDH, ?2microglobulin and HCV RNA by qualitative real time PCR were performed for all subjects. HLA-G 14bp ins/del gene polymorphism was determined by PCR. RESULTS: in our study, del/del, ins/del and dominant genotypes increased the risk of NHL by 11.01, 10.55 and 10.88 fold respectively (p<0.001) but the recessive genotype did not increase the risk of NHL (p=0.112). Cases with the del allele had a greater risk of NHL than those with the ins allele (p<0.001). del/del and ins/del genotypes were significantly associated with higher LDH and ?2microglobulin levels (p<0.001), lower Hb and platelet values (p<0.001), extra nodal sites (p=0.001), poor performance status (p=0.04) and relapse (p=0.001).  Conclusions:  the results suggest that HLA-G 14bp ins/del gene polymorphism is a risk factor for NHL in our Egyptian population and is associated with poor clinical pathological features. ABBREVIATIONS: Non-Hodgkin lymphoma (NHL), Diffuse large B-cell lymphoma (DLBCL), follicular lymphoma (FL), Epstein-Barr virus (EBV), human T-cell lymphotropic/leukemia virus-1 (HTLV-1).

Relationship between autophagy and perineural invasion, clinicopathological features, and prognosis in pancreatic cancer.

AIM: To investigate the relationship between autophagy and perineural invasion (PNI), clinical features, and prognosis in patients with pancreatic cancer. METHODS: Clinical and pathological data were retrospectively collected from 109 patients with pancreatic ductal adenocarcinoma who underwent radical resection at the First Affiliated Hospital of Zhengzhou University from January 2011 to August 2016. Expression levels of the autophagy-related protein microtubule-associated protein 1A/1B-light chain 3 (LC3) and PNI marker ubiquitin carboxy-terminal hydrolase (UCH) in pancreatic cancer tissues were detected by immunohistochemistry. The correlations among LC3 expression, PNI, and clinical pathological features in pancreatic cancer were analyzed. The patients were followed for further survival analysis. RESULTS: In 109 cases of pancreatic cancer, 68.8% (75/109) had evidence of PNI and 61.5% (67/109) had high LC3 expression. PNI was associated with lymph node metastasis, pancreatitis, and CA19-9 levels (P < 0.05). LC3 expression was related to lymph node metastasis (P < 0.05) and was positively correlated with neural invasion (P < 0.05, r = 0.227). Multivariate logistic regression analysis indicated that LC3 expression, lymph node metastasis, pancreatitis, and CA19-9 level were factors that influenced neural invasion, whereas only neural invasion itself was an independent factor for high LC3 expression. Univariate analysis showed that LC3 expression, neural invasion, and CA19-9 level were related to the overall survival of pancreatic cancer patients (P < 0.05). Multivariate COX regression analysis indicated that PNI and LC3 expression were independent risk factors for poor prognosis in pancreatic cancer (P < 0.05). CONCLUSION: PNI in patients with pancreatic cancer is positively related to autophagy. Neural invasion and LC3 expression are independent risk factors for pancreatic cancer with a poor prognosis.