Clinicopathological Characteristics and Molecular Phenotypes of Primary Hepatic Lymphoma
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ABSTRACT:
SUBMITTER: Xing A
PROVIDER: S-EPMC9272565 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background: Primary central nervous system lymphoma (PCNSL) is a rare B-cell lymphoma of central nervous system, which is often found in immunocompromised patients. The common clinical treatment of PCNSL is methotrexate (MTX) and whole brain radiation therapy. With the development of tumour immunology research, the tumour microenvironment of PCNSL is characterised by abnormal expression of different immune signature molecules and patients with PCNSL may benefit from tumour immunotherapy. Methods: In our research, RNA-seq data from 82 PCNSL patients were collated by mining the microarray data from the GEO database. All samples were classified into three types related to tumour immune response by the Cibersort algorithm and consistent clustering. Differential analysis of genes was used to uncover 2 sets of differential genes associated with tumour immunity. The ICI scores of each sample were obtained by PCA algorithm, and the relationship between ICI scores and immune checkpoint expression, immunotherapy and drug sensitivity was investigated. Genes associated with ICI scores and their functional characteristics were investigated by WGCNA analysis and PPI analysis, based on the ICI scores of each sample. Results: The tumour microenvironment in PCNSL has a greater relationship with the tumour immune response. ICI scores obtained from 375 differential genes were associated with multiple immune responses in PCNSL. PCNSL patients with higher ICI scores had a better tumour microenvironment and were sensitive to immunotherapy and some small molecule drug. This study also identified 64 genes associated with ICI scores, which may serve as important therapeutic and prognostic targets for PCNSL. Conclusion: The presence of multiple immunosuppressive responses in the tumour microenvironment of PCNSL which suggested that improving the immune function of PCNSL patients through immunotherapy and targeted therapies can be an effective treatment for PCNSL. And the ICI score and associated genes may also provide a better predictor of the clinical use of immunotherapy.
| S-EPMC9428130 | biostudies-literature
Project description:Primary hepatic lymphoma (PHL) presenting with obstructive jaundice is rare and can mimic a preoperative diagnosis of cholangiocarcinoma. We should consider PHL in patients with radiological hepatic disease with normal serum alpha-fetoprotein and carcinoembryonic antigen levels, and elevated lactate dehydrogenase. We present the case of a 67-year-old male with no significant medical history presented with abdominal pain, jaundice, fever, and abnormal liver function tests. Abdominal sonography and computed tomography scan suggested a diagnosis of obstructive jaundice and cholangitis due to cholangiocarcinoma (Klatskin tumor). A subsequent liver biopsy diagnosed PHL, and the patient was treated with combination chemotherapy, including rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP). PHL should be considered in patients presenting with biliary obstruction.
| S-EPMC5534224 | biostudies-other
Project description:Compared to gastric gastrointestinal stromal tumor (GIST), hepatic GIST is very rare in clinic. Reports on clinicopathological feature and prognosis of this rare disease are limited in literature. The purpose of this study was, therefore, to summarize clinical and pathological features as well as prognosis of the primary hepatic GIST. One case of primary hepatic GIST from our center and 22 cases reported in MEDLINE or China National Knowledge Infrastructure (CNKI) were enrolled into this study. Clinicopathological features as well as survival data of hepatic GIST were analyzed and compared with 297 gastric GISTs and 59 small intestinal GISTs from our center. Majority of the 22 cases (95.7%) of hepatic GIST was larger than 5 cm in size, and 75.0% of the tumors were over 5/50 HPF in mitotic index. Most of the hepatic GISTs (85.7%) displayed spindle cell shape in morphology. All of the hepatic GIST (100%) enrolled in this study were classified as high-risk category by the National Institute of Health (NIH) risk classification. The 5-year median disease-free survival (DFS) time was 24.0 months and 5-year disease-specific survival (DSS) rate was 33.3%, respectively. Distribution of clinicopathological features was significantly different among hepatic, gastric, and small intestinal GIST. The DFS and DSS of hepatic GIST were significantly lower than those of the other two groups. Majority of the hepatic GIST is large in size and highly malignant. Prognosis of the primary hepatic GIST is worse than that of gastric GIST and small intestinal GIST.
| S-EPMC5055144 | biostudies-literature
Project description:Background: Primary renal leiomyosarcoma (LMS) is an exceedingly rare entity with a poor prognosis. We summarized the clinicopathological characteristics, treatment choice, and survival outcomes of LMS from the Surveillance, Epidemiology, and End Results (SEER) database. Methods: Renal LMS and kidney renal clear cell carcinoma (KIRC) data from 1998 to 2016 were collected from the SEER database. The continuous variables were analyzed using t-tests, while the categorical variables were analyzed using Pearson's chi-squared or Fisher's exact tests. Propensity score matching (PSM) was also performed. The cancer-specific survival (CSS) and overall survival (OS) curves were estimated using Kaplan-Meier analyses and compared by log-rank tests. The risk factors for CSS and OS were estimated using univariable and multivariable Cox proportional hazard regression models. Results: A total of 140 patients with renal LMS and 75,401 patients with KIRC were enrolled. These groups differed significantly in sex, race, tumor size, grade, SEER stage, surgery, radiation, and chemotherapy. Renal LMS exhibited poorer CSS and OS compared with KIRC before and after PSM. For renal LMS, the univariate Cox proportional hazard regression model indicated that larger tumor size, higher tumor grade, higher SEER stage, and chemotherapy were risk factors for CSS and OS, while surgery appeared to be a protective factor. However, only tumor grade, SEER stage, and receiving surgery remained independent prognostic factors in the multivariable Cox proportional hazard regression model. In addition, subgroup analyses indicated that surgery remained a protective factor for advanced renal LMS. However, there was no survival benefit for patients receiving chemotherapy. Conclusions: Primary renal LMS is an exceedingly rare entity with distinct clinicopathological features and a poor prognosis. A higher tumor grade and late stage may indicate a poor prognosis. Complete tumor resection remains to be the first treatment choice, while chemotherapy may be a palliative treatment for patients with advanced disease.
| S-EPMC8566676 | biostudies-literature
Project description:Cancer of unknown primary (CUP) is defined the presence of metastatic disease without an identified primary site. An unidentifiable primary site of cancer creates significant challenges for treatment selection. We aimed to describe the clinicopathological, molecular, and prognostic characteristics of Chinese CUP patients. Patients with oncologist-confirmed CUP were identified at Fudan University Shanghai Cancer Center from 2019 to 2020. Information on patient characteristics, tumor presentation, treatment, and outcome were retrospectively collected from the inpatient database and pathological consultation database for descriptive analysis. A multivariable logistic regression model was established to identify factors associated with patient prognosis. A total of 1420 CUP patients were enrolled in this study. The baseline characteristics of the entire cohort included the following: median age (59 years old), female sex (45.8%), adenocarcinoma (47.7%), and poorly differentiated or undifferentiated tumors (92.1%). For the inpatient cohort, the most common sites where cancer spread included the lymph nodes (41.8%), bone (22.0%), liver (20.1%), and peritoneum/retroperitoneum (16.0%). A total of 77.4% and 58.2% of patients were treated with local therapy and systemic therapy, respectively. Four prognostic factors, including liver metastasis, peritoneal/retroperitoneal metastasis, number of metastatic sites (N ≥ 2), and systemic treatment, were independently associated with overall survival. Additionally, 24.8% (79/318) of patients received molecular testing, including PD-L1, human papillomavirus, genetic variation, and 90-gene expression tests for diagnosis or therapy selection. Cancer of unknown primary remains a difficult cancer to diagnose and manage. Our findings improve our understanding of Chinese CUP patient characteristics, leading to improved care and outcomes for CUP patients.
| S-EPMC9883567 | biostudies-literature
Project description:The purpose of the present study was to evaluate the correlation between molecular factors such as BRCA1 DNA repair associated (BRCA1), checkpoint kinase 2 (CHEK2) and nucleotide binding oligomerization domain containing 2 (NOD2) gene mutations and clinicopathological factors in patients with breast cancer (BC). Prognostic factors were analyzed in BC patients with confirmed BRCA1 (n=73), CHEK2 (n=51) and NOD2 (n=31) mutations. The control group was selected from BC patients without mutations (n=392). The BRCA-associated cancer cases were significantly more often triple negative compared with sporadic cancer (62% vs. 14%; P=0.0001). Luminal B HER2-positive and HER2-positive non-luminal subtypes were observed more often in the control group (33 and 17%). The luminal A subtype was detected in 53% of CHEK2 mutation carriers and 45% of NOD2 mutation carriers. A lower histological grade was observed significantly more often in patients with CHEK2 mutations in comparison with the control group (88 vs. 69%; P=0.003). Lymph nodes without metastases were reported more frequently in NOD2 mutation carriers (74 vs. 54%; P=0.038), in BRCA1 mutations (73 vs. 54%; P=0.004) and, although not significantly, in CHEK2 mutation carriers (69 vs. 54%; P=0.071) compared with the control group. In conclusion, BRCA1 mutation was associated with TNBC and the luminal B HER2 (-) subtype. HER2-positive subtypes were characteristic of the control group. CHEK2 and NOD2 mutation carriers had a more favorable profile of prognostic factors.
| S-EPMC6587005 | biostudies-literature
Project description:Primary outcome(s): Clinicopathological and molecular characteristics in serrated polyposis syndrome.
| 2645361 | ecrin-mdr-crc
Project description:Introduction and importanceDue to advances in diagnostic methods and human immunodeficiency virus, there has been a recent increase in cardiac involvement by lymphoma.Case presentation case 115-year-old HIV infected male patient presented with features of heart failure and cardiac tamponade. The transthoracic echocardiogram showed pericardial effusion and a right atrioventricular mass. The resected tumour was confirmed to be diffuse large b-cell lymphoma on histopathology. Unfortunately, the patient died few hours after surgery. Case 2: 30-year-old HIV infected pregnant female presented with features of cardiac tamponade. The transthoracic echocardiogram showed pericardial effusion with right atrial mass. The resected tumour was confirmed to be Burkitt's lymphoma on histopathology. She was successfully treated with chemotherapy.Clinical discussionCardiac lymphomas are rare with most cases diagnosed on autopsy. However, advances in diagnostic methods has increased antemortem diagnosis with subsequent optimal management. Majority of the cases are of B-cell lineage, although T-cell origin has been reported.ConclusionA high index of suspicion of cardiac lymphoma should be maintained in the right clinical setting in order to receive adequate attention and management.
| S-EPMC8387905 | biostudies-literature
Project description:Objective: Primary hepatic lymphoma (PHL) is a rare malignancy with lesions confined to the liver. It is characterized by a large number of monomorphic, medium-sized lymphocytic infiltrates in the hepatic sinusoid. Due to the rarity of this malignancy, our current understanding of PHL is limited.Methods: We collected incidence, mortality, and clinical data of PHL patients diagnosed between 1975 and 2016 using the Surveillance, Epidemiology, and End Results (SEER) database. The annual percentage changes (APCs) and prognoses were analyzed using the Joinpoint and R package.Results: Among the 1,372 patients, white males were prevalent, and the most common histological subtype was diffuse large B-cell lymphoma (DLBCL). The incidence and mortality rate of PHL was 0.075/100,000 person-years and 0.055/100,000 person-years, respectively. The annual incidence rate of PHL increased significantly, with an APC of 2.74% (P < 0.001). The 3- and 5-year overall survival (OS) rates of patients with PHL were 43.553% and 39.242%, respectively. The 3- and 5-year relative survival (RS) rates were 46.925% and 45.300%, respectively. Multivariate Cox regression analysis revealed that older age, black, DLBCL, and advanced-stage disease were independent predictors of unfavorable OS and RS. The C-index and receiver operating characteristic (ROC) analysis confirmed the prognostic value of the nomograms established in this study.Conclusion: The nomogram established in this study is a robust tool to predict the prognosis of PHL patients.
| S-EPMC7672323 | biostudies-literature
Project description:BACKGROUND:Zymogen granule protein 16 (ZG16) is one of the most significantly down-regulated genes in colorectal cancer (CRC) tissues. This study aimed to further evaluate its expression changes and investigate its association with molecular and clinicopathological characteristics of CRC. METHODS:We applied quantitative RT-PCR to determine expression difference between tumor and matched normal tissues from 23 CRC patients. To further validate the down-regulation in tumor tissues, we performed immunohistochemistry (IHC) analysis in 40 paraffin-embedded normal-tumor pairs and 22 colon tissues with a variety of diseases. To evaluate if the ZG16 gene changes were associated with clinicopathological characteristics, we further analyzed the gene expression and copy number changes from The Cancer Genome Atlas (TCGA) and Oncomine datasets. RESULTS:Quantitative RT-PCR confirmed significant down-regulation (~ 130-fold) of ZG16 in all tumor tissues. ZG16 expression was in an organ-specific manner with an extremely high expression in normal epithelial cells of small intestine, colon and rectum. IHC analysis showed that ZG16 protein was completely lost in all of 40 CRC tissues, and partially lost in premalignant adenomatous polyps (adenomas) and chronic ulcerative colitis tissues. Gene expression and copy number changes were significantly associated with multiple molecular and clinicopathological features of CRC including microsatellite instability (MSI), MLH1 silencing, CpG island methylator phenotype, hyper-mutation status, gender, presence of synchronous adenomas, and histological type (P < 0.05). Patients with lower ZG16 gene expression showed shorter progression-free survival and overall survival than those with relatively higher expression (P < 0.05). Multivariate analysis suggested that the ZG16 expression was an independent prognosis factor (P = 0.012, HR = 6.286, 95% CI = 0.816-0.975). CONCLUSION:For the first time, our study demonstrated that ZG16 expression was sequentially reduced from normal, adenoma, to carcinoma. Association with multiple clinicopathological features indicates that ZG16 may play an important role in cancer initiation and progression. ZG16 may serve as a potential biomarker for diagnosis and prognosis of CRC.
| S-EPMC5902988 | biostudies-literature