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1.
PLoS One ; 18(12): e0289966, 2023.
Article in English | MEDLINE | ID: mdl-38100461

ABSTRACT

Abdominal aortic aneurysm (AAA), an extremely dangerous vascular disease with high mortality, causes massive internal bleeding due to aneurysm rupture. To boost the research on AAA, efforts should be taken to organize and link the information about AAA-related genes and their functions. Currently, most researchers screen through genetic databases manually, which is cumbersome and time-consuming. Here, we developed "AAAKB" a manually curated knowledgebase containing genes, SNPs and pathways associated with AAA. In order to facilitate researchers to further explore the mechanism network of AAA, AAAKB provides predicted genes that are potentially associated with AAA. The prediction is based on the protein interaction information of genes collected in the database, and the random forest algorithm (RF) is used to build the prediction model. Some of these predicted genes are differentially expressed in patients with AAA, and some have been reported to play a role in other cardiovascular diseases, illustrating the utility of the knowledgebase in predicting novel genes. Also, AAAKB integrates a protein interaction visualization tool to quickly determine the shortest paths between target proteins. As the first knowledgebase to provide a comprehensive catalog of AAA-related genes, AAAKB will be an ideal research platform for AAA. Database URL: http://www.lqlgroup.cn:3838/AAAKB/.


Subject(s)
Aortic Aneurysm, Abdominal , Databases, Genetic , Humans , Aortic Aneurysm, Abdominal/genetics
2.
Virchows Arch ; 479(2): 355-363, 2021 Aug.
Article in English | MEDLINE | ID: mdl-33650043

ABSTRACT

Follicular helper T-cell-derived peripheral T-cell lymphoma (TFH-derived PTCL) initially present in the Waldeyer's ring is a rare condition with a challenging diagnosis. This study aimed to evaluate the clinicopathological characteristics and diagnosis of Waldeyer's ring TFH-derived PTCL and raise awareness of this type of lymphoma. A series of 13 cases of Waldeyer's ring TFH-derived PTCL were retrospectively analyzed. Clinically, most patients presented with localized manifestations, such as painless cervical lymphadenopathy (7/13), pharyngalgia (6/13), and nasal obstruction (3/13), and systemic symptoms were uncommon. Macroscopically, plump mass (9/13) and nodular lesions (3/13) covered with intact and tense mucosa were the main findings on fiberoptic laryngoscopy examination. Pathologically, diffuse infiltration with atypical lymphocytes in the lamina propria (10/13) was the most common growth pattern. Clear cells (9/13) and vascular proliferation (11/13) within a polymorphic inflammatory background (11/13) were frequently observed. All cases expressed at least two TFH markers: PD-1 in 92.3% (12/13), BCL6 in 69.2% (9/13), CXCL13 in 53.8% (7/13), and CD10 in 46% (6/13). Targeted next-generation sequencing analysis identified frequent mutations, including TET2 (10/11), RHOA (6/11), DNMT3A (3/11), and IDH2 (2/11). The overall survival rate at 2 years was 35.5%, and survival analysis revealed that patients with localized disease showed better overall survival (P = 0.022). In conclusion, careful morphological observation combined with immunohistochemistry and molecular analysis would help in diagnosis of TFH-derived PTCL involving the Waldeyer's ring, which is a rare condition that frequently presents with atypical clinical manifestations.


Subject(s)
Lymphoma, T-Cell, Peripheral/immunology , Lymphoma, T-Cell, Peripheral/pathology , T Follicular Helper Cells/immunology , T Follicular Helper Cells/pathology , Aged , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , High-Throughput Nucleotide Sequencing , Humans , Immunohistochemistry , Lymphoma, T-Cell, Peripheral/genetics , Lymphoma, T-Cell, Peripheral/mortality , Male , Middle Aged , Mutation , Neoplasm Staging , Phenotype , Predictive Value of Tests , Retrospective Studies
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