1.Research progress on the pathogenesis and risk factors of diabetic macular edema
International Eye Science 2026;26(3):424-428
Diabetic macular edema(DME)may occur at any stage of diabetic retinopathy(DR)and represents a significant cause of visual impairment in patients with DR. The pathogenesis of DME is complex, involving numerous risk factors. Recent studies have increasingly revealed that the occurrence and development of DME represents an intertwined pathophysiological process involving metabolic disorders, disruption of the blood-retinal barrier, amplified inflammatory responses, hemodynamic alterations, and the formation of hypoxic microenvironments. Multiple risk factors, including hyperglycaemia, dyslipidaemia, and genetic factors, synergistically drive this process. Risk factors and pathogenesis are a dynamic, interactive relationship in the progression of disease. Comprehensive management of risk factors such as blood glucose and blood lipids, along with multi-target interventions on core pathogenic mechanisms—such as combined anti-vascular endothelial growth factor(VEGF)and anti-inflammatory treatments, exploration of gene therapy and regulation of metabolic pathways—are expected to become key strategies for delaying the progression of DME.
2.Xiaozhong Zhitong Mixture(消肿止痛合剂)Combined with Antibiotic Bone Cement in the Treatment of Diabetic Foot Ulcers with Damp-Heat Obstructing Syndrome:A Randomized Controlled Trial of 35 Patients
Xiaotao WEI ; Zhijun HE ; Tao LIU ; Zhenxing JIANG ; Fei LI ; Yan LI ; Jinpeng LI ; Wen CHEN ; Bihui BAI ; Xuan DONG ; Bo SUN
Journal of Traditional Chinese Medicine 2025;66(7):704-709
ObjectiveTo observe the clinical effectiveness and safety of Xiaozhong Zhitong Mixture (消肿止痛合剂) combined with antibiotic bone cement in the treatment of diabetic foot ulcer (DFU) with damp-heat obstructing syndrome. MethodsA total of 72 DFU patients with damp-heat obstructing syndrome were randomly assigned to treatment group (36 cases) and the control group (36 cases). Both groups received standard treatment and topical antibiotic bone cement for ulcer wounds, while the treatment group received oral Xiaozhong Zhitong Mixture (50 ml per time, three times daily) in additionally. Both groups underwent daily wound dressing changes for 21 consecutive days. Ulcer healing rate, serum levels of tumor necrosis factor-alpha (TNF-α), interleukin-1 beta (IL-1β), malondialdehyde (MDA), superoxide dismutase (SOD), C-reactive protein (CRP), and white blood cell (WBC) count were observed before and after treatment, and visual analog scale (VAS) scores for wound pain, traditional Chinese medicine (TCM) syndrome scores, and the DFU Healing Scale (DMIST scale) were also compared. Liver and kidney function were evaluated before and after treatment, and adverse events such as allergic reactions, worsening ulcer pain were recorded. ResultsTotally 35 patients in the treatment group and 33 in the control group were included in the final analysis. The ulcer healing rate in the treatment group was (87.93±9.34)%, significantly higher than (81.82±12.02)% in the control group (P = 0.035). Compared to pre-treatment levels, both groups showed significant reductions in serum CRP, WBC, MDA, IL-1β, and TNF-α levels, with an increase in SOD level (P<0.05). TCM syndrome scores, VAS, and DMIST scores also significantly decreased in both groups (P<0.05), with greater improvements in the treatment group (P<0.05). No significant adverse reactions were observed in either group during treatment. ConclusionXiaozhong Zhitong Mixture combined with antibiotic bone cement has significant advantages in promoting DFU healing, reducing inflammatory response, and alleviating oxidative stress in DFU patients with damp-heat obstructing syndrome, with good safety for DFU patients with damp-heat obstructing syndrome.
3.Research progress of ocular surface damage in thyroid-associated ophthalmopathy
Chengyu MA ; Ying XIE ; Zhijun DONG
International Eye Science 2025;25(6):942-945
Thyroid-associated ophthalmopathy(TAO), the most common orbital disease in adults, is characterized by a rising incidence globally. TAO typically presents with clinical features such as proptosis, upper eyelid retraction, ocular motility dysfunction, and diplopia. Additionally, it significantly compromises the integrity of ocular surface structures, leading to symptoms including dryness, foreign body sensation, photophobia and epiphora, which severely impair patients' visual function and quality of life. Recent studies have increasingly highlighted the roles of ocular surface inflammation, immune dysregulation and ocular surface exposure in the pathogenesis of TAO-related ocular surface damage. These factors collectively contribute to pathological changes in ocular surface structures, such as the conjunctiva, cornea, lacrimal gland and meibomian glands. This review comprehensively summarizes the latest research progress on ocular surface structural damage in TAO patients, aiming to provide a theoretical foundation and novel insights for the early diagnosis, disease evaluation and individualized treatment of TAO.
4.Morphological characteristics of the corpus callosum in patients with medial temporal lobe epilepsy with hippocampal sclerosis
Bo TAO ; Zhijun LE ; Fei ZHU ; Yingying TANG ; Ziyang GAO ; Menglian WU ; Dong ZHOU ; Su LYU
Chinese Journal of Radiology 2025;59(2):177-183
Objective:To explore the morphological characteristics of the corpus callosum (CC) in patients with unilateral medial temporal lobe epilepsy (mTLE) with hippocampal sclerosis (HS), and their correlation with hippocampal volume and clinical indicators.Methods:This was a cross-sectional study. Clinical (age of onset, disease duration, seizure frequency, seizure duration, etc.) and imaging data of 44 patients mTLE with unilateral HS confirmed by postoperative pathology and 42 healthy controls (HCs) recruited at West China Hospital of Sichuan University from June 2017 to May 2023 were analyzed retrospectively. Among the 44 patients, 19 had left-sided HS and 25 had right-sided HS. All subjects underwent high-resolution 3D T 1WI. Hippocampal volumes were obtained using FreeSurfer. ART was used to measure the morphological parameters of the CC for each participant, including total CC area, volume, perimeter, length, thickness, circularity, and the area of seven CC subregions defined by Witelson: rostrum, genu, body, anterior midbody, posterior midbody, isthmus and splenium. Differences in these metrics between two or three groups were compared using independent samples t-test or one-way ANOVA. Pearson or Spearman correlation analysis was used to observe the correlation between morphological features of the CC and hippocampal volume and other clinical indicators in patients with mTLE with unilateral HS. Results:Compared with HCs, patients with mTLE with unilateral HS had significantly reduced total CC area, CC circularity, as well as the area and thickness of the genu, anterior midbody, posterior midbody, isthmus, splenium, and the area of the rostrum ( P<0.05). Significant differences were observed in the total area, circularity, and subregional areas (genu, rostrum, anterior midbody, posterior midbody, splenium), as well as thickness (genu, anterior midbody, posterior midbody, isthmus) of the CC among mTLE with left-sided HS, mTLE with right-sided HS, and HCs ( P<0.05). When compared to HCs, the total area of the CC, circularity and the areas of the genu, rostrum, anterior midbody, posterior midbody, and splenium, and the thicknesses of the genu, anterior midbody, posterior midbody, and isthmus of the CC were significantly reduced in patients with mTLE with right-sided HS ( P<0.05), and the thicknesses of the midbody and isthmus of the CC were significantly reduced in patients with mTLE with left-sided HS compared to HCs ( P<0.05), and the two-by-two comparison of the rest of the indicators did not show statistically significant differences ( P>0.05). Correlation analysis showed that some morphological abnormalities in the CC in mTLE with unilateral HS patients were significantly correlated with age of onset, disease duration, seizure frequency, seizure duration, and hippocampal volume. Conclusions:mTLE with unilateral HS patients can exhibit morphological abnormalities in the CC, particularly in those with right-sided lesions. These abnormalities are significantly associated with seizure-related factors and hippocampal atrophy.
5.Imaging characteristics of small intestinal epithelioid angiosarcoma
Zhenjie CONG ; Weiwei YIN ; Maozhu JIANG ; Chenggong DONG ; Zuoqiang CHI ; Zhijun LIN
Chinese Journal of Digestive Surgery 2025;24(3):394-400
Objective:To investigate the imaging characteristics of small intestinal epithe-lioid angiosarcoma.Methods:The retrospective and descriptive study was conducted. The clinical data of 5 male patients with small intestinal epithelioid angiosarcoma who were admitted to 3 medical centers, including Yantaishan Hospital of Yantai et al, from January 2013 to December 2023 were collected. The age of 5 patients was 54 (range, 36-73)years. All 5 patients underwent computer tomography (CT) plain scan and dynamic contrast-enhanced scan, with 1 patient also undergoing magnetic resonance imaging (MRI) plain scan. Observation indicators: (1) results of CT and MRI examination; (2) surgical conditions and postoperative pathological examination; (3) follow-up. Measurement data with skewed distribution were represented as M(range), and count data were described as absolute numbers. Results:(1) Results of CT and MRI examination. Of the 5 patients with small intestinal epithelioid angiosarcoma, two cases were primary small intestinal epithelioid angiosarcoma and the other three cases were metastatic small intestinal epithelioid angiosarcoma. None of the five patients exhibited metastasis to other solid organs, and no significant ascites or peritoneal metastases. ① In two cases of primary small intestinal epithelioid angiosarcoma, three tumors were identified, appearing as round soft tissue nodules on CT plain scan, primarily growing intraluminally. The CT value for tumors of those two cases on plain scan were 30, 35, 32 HU, respec-tively. During the arterial phase of enhanced CT scan, moderate enhancement was observed for tumors of those two cases, with CT value of 57, 72, 65 HU, respectively. During the venous phase of enhanced CT scan, significant enhancement was observed for tumors of those two cases, with CT value of 76, 86, 88 HU, respectively. During the delayed phase of enhanced CT scan, slightly decreased enhancement was observed for tumors of those two cases, with CT value of 74, 79, 72 HU, showing no significant necrosis or cystic changes within the tumors. ② In three cases of metastatic small intestinal epithelioid angiosarcoma, four tumors were identified with uneven thickening of the intestinal wall appeared on CT plain scan. The CT value for tumors of those three cases on plain scan were 39, 37, 38, 28 HU, respectively. During the arterial phase of enhanced CT scan, mild to moderate enhancement was observed for tumors of those three cases, with CT value of 57, 56, 52, 45 HU, respectively. During the venous phase of enhanced CT scan, significant enhancement was observed for tumors of those three cases, with CT value of 84, 88, 82, 77 HU, respectively. During the delayed phase of enhanced CT scan, further changes of increased or decreased enhancement was observed for tumors of those three cases, with CT value of 95, 78, 72, 70 HU. One case of those three patients had thickened intestinal wall with low signal on T1-weighted imaging, heterogeneous high signal on fat-suppressed T2-weighted imaging, significant high signal on diffusion-weighted imaging and low signal on apparent diffusion coefficient imaging on MRI scan. (2) Surgical conditions and post-operative pathological examination. All five cases underwent complete tumor resection. In two cases of primary epithelioid angiosarcoma with three small intestinal tumor foci, there were two tumors invading the serosa and one tumor invading the submucosa. All three metastatic epithelioid angio-sarcoma cases showed four tumors invasion through the serosa, with one case exhibiting mesenteric lymph node metastasis. Microscopic examination revealed hemorrhagic necrosis on the tumor mucosal surface, with tumor cells located in the submucosa or throughout the intestinal wall, displaying infiltrative growth patterns. The distribution was diffuse, with local networks forming irregularly sized vascular-like structures, containing red blood cells and forming blood sinuses and vascular networks. Tumor cells were arranged in solid sheets, strands, and nests, exhibiting spindle-shaped or epithelioid characteristics, with marked atypia, large nuclei, prominent nucleoli, and mitotic figures. Immunohistochemical analysis showed diffuse strong positivity for CD31, Fli-1, and Vim in all five patients. (3) Follow-up. All five patients were followed up postoperatively for 6(range, 3?48)months. During the follow-up period, four patients succumbed to widespread metastasis. One patient with metastatic small intestinal epithelioid angiosarcoma underwent six cycles of chemotherapy and remained in good condition four years post-surgery.Conclusion:The imaging characteristics of small intestinal epithelioid angiosarcoma include abnormal thickening or masses of the intestinal wall.
6.Imaging characteristics of small intestinal epithelioid angiosarcoma
Zhenjie CONG ; Weiwei YIN ; Maozhu JIANG ; Chenggong DONG ; Zuoqiang CHI ; Zhijun LIN
Chinese Journal of Digestive Surgery 2025;24(3):394-400
Objective:To investigate the imaging characteristics of small intestinal epithe-lioid angiosarcoma.Methods:The retrospective and descriptive study was conducted. The clinical data of 5 male patients with small intestinal epithelioid angiosarcoma who were admitted to 3 medical centers, including Yantaishan Hospital of Yantai et al, from January 2013 to December 2023 were collected. The age of 5 patients was 54 (range, 36-73)years. All 5 patients underwent computer tomography (CT) plain scan and dynamic contrast-enhanced scan, with 1 patient also undergoing magnetic resonance imaging (MRI) plain scan. Observation indicators: (1) results of CT and MRI examination; (2) surgical conditions and postoperative pathological examination; (3) follow-up. Measurement data with skewed distribution were represented as M(range), and count data were described as absolute numbers. Results:(1) Results of CT and MRI examination. Of the 5 patients with small intestinal epithelioid angiosarcoma, two cases were primary small intestinal epithelioid angiosarcoma and the other three cases were metastatic small intestinal epithelioid angiosarcoma. None of the five patients exhibited metastasis to other solid organs, and no significant ascites or peritoneal metastases. ① In two cases of primary small intestinal epithelioid angiosarcoma, three tumors were identified, appearing as round soft tissue nodules on CT plain scan, primarily growing intraluminally. The CT value for tumors of those two cases on plain scan were 30, 35, 32 HU, respec-tively. During the arterial phase of enhanced CT scan, moderate enhancement was observed for tumors of those two cases, with CT value of 57, 72, 65 HU, respectively. During the venous phase of enhanced CT scan, significant enhancement was observed for tumors of those two cases, with CT value of 76, 86, 88 HU, respectively. During the delayed phase of enhanced CT scan, slightly decreased enhancement was observed for tumors of those two cases, with CT value of 74, 79, 72 HU, showing no significant necrosis or cystic changes within the tumors. ② In three cases of metastatic small intestinal epithelioid angiosarcoma, four tumors were identified with uneven thickening of the intestinal wall appeared on CT plain scan. The CT value for tumors of those three cases on plain scan were 39, 37, 38, 28 HU, respectively. During the arterial phase of enhanced CT scan, mild to moderate enhancement was observed for tumors of those three cases, with CT value of 57, 56, 52, 45 HU, respectively. During the venous phase of enhanced CT scan, significant enhancement was observed for tumors of those three cases, with CT value of 84, 88, 82, 77 HU, respectively. During the delayed phase of enhanced CT scan, further changes of increased or decreased enhancement was observed for tumors of those three cases, with CT value of 95, 78, 72, 70 HU. One case of those three patients had thickened intestinal wall with low signal on T1-weighted imaging, heterogeneous high signal on fat-suppressed T2-weighted imaging, significant high signal on diffusion-weighted imaging and low signal on apparent diffusion coefficient imaging on MRI scan. (2) Surgical conditions and post-operative pathological examination. All five cases underwent complete tumor resection. In two cases of primary epithelioid angiosarcoma with three small intestinal tumor foci, there were two tumors invading the serosa and one tumor invading the submucosa. All three metastatic epithelioid angio-sarcoma cases showed four tumors invasion through the serosa, with one case exhibiting mesenteric lymph node metastasis. Microscopic examination revealed hemorrhagic necrosis on the tumor mucosal surface, with tumor cells located in the submucosa or throughout the intestinal wall, displaying infiltrative growth patterns. The distribution was diffuse, with local networks forming irregularly sized vascular-like structures, containing red blood cells and forming blood sinuses and vascular networks. Tumor cells were arranged in solid sheets, strands, and nests, exhibiting spindle-shaped or epithelioid characteristics, with marked atypia, large nuclei, prominent nucleoli, and mitotic figures. Immunohistochemical analysis showed diffuse strong positivity for CD31, Fli-1, and Vim in all five patients. (3) Follow-up. All five patients were followed up postoperatively for 6(range, 3?48)months. During the follow-up period, four patients succumbed to widespread metastasis. One patient with metastatic small intestinal epithelioid angiosarcoma underwent six cycles of chemotherapy and remained in good condition four years post-surgery.Conclusion:The imaging characteristics of small intestinal epithelioid angiosarcoma include abnormal thickening or masses of the intestinal wall.
7.Morphological characteristics of the corpus callosum in patients with medial temporal lobe epilepsy with hippocampal sclerosis
Bo TAO ; Zhijun LE ; Fei ZHU ; Yingying TANG ; Ziyang GAO ; Menglian WU ; Dong ZHOU ; Su LYU
Chinese Journal of Radiology 2025;59(2):177-183
Objective:To explore the morphological characteristics of the corpus callosum (CC) in patients with unilateral medial temporal lobe epilepsy (mTLE) with hippocampal sclerosis (HS), and their correlation with hippocampal volume and clinical indicators.Methods:This was a cross-sectional study. Clinical (age of onset, disease duration, seizure frequency, seizure duration, etc.) and imaging data of 44 patients mTLE with unilateral HS confirmed by postoperative pathology and 42 healthy controls (HCs) recruited at West China Hospital of Sichuan University from June 2017 to May 2023 were analyzed retrospectively. Among the 44 patients, 19 had left-sided HS and 25 had right-sided HS. All subjects underwent high-resolution 3D T 1WI. Hippocampal volumes were obtained using FreeSurfer. ART was used to measure the morphological parameters of the CC for each participant, including total CC area, volume, perimeter, length, thickness, circularity, and the area of seven CC subregions defined by Witelson: rostrum, genu, body, anterior midbody, posterior midbody, isthmus and splenium. Differences in these metrics between two or three groups were compared using independent samples t-test or one-way ANOVA. Pearson or Spearman correlation analysis was used to observe the correlation between morphological features of the CC and hippocampal volume and other clinical indicators in patients with mTLE with unilateral HS. Results:Compared with HCs, patients with mTLE with unilateral HS had significantly reduced total CC area, CC circularity, as well as the area and thickness of the genu, anterior midbody, posterior midbody, isthmus, splenium, and the area of the rostrum ( P<0.05). Significant differences were observed in the total area, circularity, and subregional areas (genu, rostrum, anterior midbody, posterior midbody, splenium), as well as thickness (genu, anterior midbody, posterior midbody, isthmus) of the CC among mTLE with left-sided HS, mTLE with right-sided HS, and HCs ( P<0.05). When compared to HCs, the total area of the CC, circularity and the areas of the genu, rostrum, anterior midbody, posterior midbody, and splenium, and the thicknesses of the genu, anterior midbody, posterior midbody, and isthmus of the CC were significantly reduced in patients with mTLE with right-sided HS ( P<0.05), and the thicknesses of the midbody and isthmus of the CC were significantly reduced in patients with mTLE with left-sided HS compared to HCs ( P<0.05), and the two-by-two comparison of the rest of the indicators did not show statistically significant differences ( P>0.05). Correlation analysis showed that some morphological abnormalities in the CC in mTLE with unilateral HS patients were significantly correlated with age of onset, disease duration, seizure frequency, seizure duration, and hippocampal volume. Conclusions:mTLE with unilateral HS patients can exhibit morphological abnormalities in the CC, particularly in those with right-sided lesions. These abnormalities are significantly associated with seizure-related factors and hippocampal atrophy.
8.Clinical application of 3D printing technology in the treatment of complex posterolateral tibial plateau fractures using the suprafibular approach
Bo LIU ; Guanghua CAO ; Wenxi ZHANG ; Dong YANG ; Hui JIANG ; Zhijun QIAO
Journal of Clinical Medicine in Practice 2024;28(5):17-20
Objective To investigate the clinical application value of 3D printing technology in the treatment of complex posterior lateral tibial plateau fractures using the suprafibular approach. Methods A retrospective analysis was conducted on the clinical data of 67 patients with complex posterior lateral tibial plateau fractures treated with the suprafibular approach. Patients were divided into 3D printing group (35 cases) and conventional group (32 cases) based on whether 3D printing simulation surgery was used preoperatively. The operation time, intraoperative blood loss, and intraoperative fluoroscopy frequency were compared between the two groups. Postoperative complications such as incision infection, popliteal vessel injury, and common peroneal nerve injury were observed. Fracture healing time was recorded during follow-up, and Rasmussen scores were evaluated at 6 months postoperatively. The Hospital for Special Surgery (HSS) knee function score was assessed during the final follow-up. Results The follow-up duration for 67 patients was 14 to 22 months. One patient in each group developed postoperative incision infection, and no complications such as popliteal vessel injury, common peroneal nerve injury, or deep venous thrombosis of the lower extremity occurred. The operation time, intraoperative blood loss, and intraoperative fluoroscopy frequency were significantly lower in the 3D printing group than in the conventional group (
9.Pathological features of lacrimal gland mucosa-associated lymphoid tissue lymphoma and the expression and significance of BCL10 and MALT1
Shuai JIANG ; Zhijun DONG ; Weili DONG ; Junru LIU ; Ziping ZHANG ; Yan HEI ; Xinji YANG
Journal of China Medical University 2024;53(9):804-808
Objective To investigate the pathomorphological features of mucosa-associated lymphoid tissue(MALT)lymphoma of the lacrimal gland and the expression and significance of BCL10 and MALT1 in tumor tissues.Methods Diseased lacrimal gland tissue specimens from 19 patients with lacrimal gland MALT lymphoma(19 eyes,including nine right eyes and ten left eyes)were selected as the experimental group,and normal lacrimal gland tissue specimens from eight patients with orbital content removal(eight eyes,including three right eyes and five left eyes)were selected as the control group.Hematoxylin-eosin(HE)staining was performed to observe the mor-phological characteristics of the lacrimal gland tissues,and immunohistochemical(IHC)staining was performed to observe the expression of BCL10 and MALT1 in the lacrimal gland tissues.Results In the experimental group,marginal B cells,monocyte-like tumor cells,small lymphocyte-like tumor cells,and plasma cell-like tumor cells appeared in the marginal zone.Large cells were occasionally distri-buted among these cells.The tumor cells invaded the lymphoid follicles and epithelium,destroyed normal tissue structure,and formed follicular colonization and lymphoepithelial lesions.The positive expression area of BCL10 and MALT1 in the experimental group was sig-nificantly larger than that in the control group(Z=-2.177,P=0.029;t=3.237,P=0.003).Conclusion Lacrimal gland MALT lymphoma shows pathological changes in diffusely distributed marginal B cells and tumor cells with diverse morphology,acquired lymphoid follicles,and scattered distribution of large cells.This may be related to apoptosis blockage caused by the upregulation of BCL10 and MALT1 expression.
10.Mutational Signatures Analysis of Micropapillary Components and Exploration of ZNF469 Gene in Early-stage Lung Adenocarcinoma with Ground-glass Opacities.
Youtao XU ; Qinhong SUN ; Siwei WANG ; Hongyu ZHU ; Guozhang DONG ; Fanchen MENG ; Zhijun XIA ; Jing YOU ; Xiangru KONG ; Jintao WU ; Peng CHEN ; Fangwei YUAN ; Xinyu YU ; Jinfu JI ; Zhitong LI ; Pengcheng ZHU ; Yuxiang SUN ; Tongyan LIU ; Rong YIN ; Lin XU
Chinese Journal of Lung Cancer 2024;26(12):889-900
BACKGROUND:
In China, lung cancer remains the cancer with the highest incidence and mortality rate. Among early-stage lung adenocarcinomas (LUAD), the micropapillary (MPP) component is prevalent and typically exhibits high aggressiveness, significantly correlating with early metastasis, lymphatic infiltration, and reduced five-year survival rates. Therefore, the study is to explore the similarities and differences between MPP and non-micropapillary (non-MPP) components in malignant pulmonary nodules characterized by GGOs in early-stage LUAD, identify unique mutational features of the MPP component and analyze the relationship between the ZNF469 gene, a member of the zinc-finger protein family, and the prognosis of early-stage LUAD, as well as its correlation with immune infiltration.
METHODS:
A total of 31 malignant pulmonary nodules of LUAD were collected and dissected into paired MPP and non-MPP components using microdissection. Whole-exome sequencing (WES) was performed on the components of early-stage malignant pulmonary nodules. Mutational signatures analysis was conducted using R packages such as maftools, Nonnegative Matrix Factorization (NMF), and Sigminer to unveil the genomic mutational characteristics unique to MPP components in invasive LUAD compared to other tumor tissues. Furthermore, we explored the expression of the ZNF469 gene in LUAD using The Cancer Genome Atlas (TCGA) database to investigate its potential association with the prognosis. We also investigated gene interaction networks and signaling pathways related to ZNF469 in LUAD using the GeneMANIA database and conducted Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Lastly, we analyzed the correlation between ZNF469 gene expression and levels of immune cell infiltration in LUAD using the TIMER and TISIDB databases.
RESULTS:
MPP components exhibited a higher number of genomic variations, particularly the 13th COSMIC (Catalogue of Somatic Mutations in Cancer) mutational signature characterized by the activity of the cytidine deaminase APOBEC family, which was unique to MPP components compared to non-MPP components in tumor tissues. This suggests the potential involvement of APOBEC in the progression of MPP components in early-stage LUAD. Additionally, MPP samples with high similarity to APOBEC signature displayed a higher tumor mutational burden (TMB), indicating that these patients may be more likely to benefit from immunotherapy. The expression of ZNF469 was significantly upregulated in LUAD compared to normal tissue, and was associated with poor prognosis in LUAD patients (P<0.05). Gene interaction network analysis and GO/KEGG enrichment analysis revealed that COL6A1, COL1A1, COL1A2, TGFB2, MMP2, COL8A2 and C2CD4C interacted with ZNF469 and were mainly involved in encoding collagen proteins and participating in the constitution of extracellular matrix. ZNF469 expression was positively correlated with immune cell infiltration in LUAD (P<0.05).
CONCLUSIONS
The study has unveiled distinctive mutational signatures in the MPP components of early-stage invasive LUAD in the Asian population. Furthermore, we have identified that the elevated expression of mutated ZNF469 impacts the prognosis and immune infiltration in LUAD, suggesting its potential as a diagnostic and prognostic biomarker in LUAD.
Humans
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Lung Neoplasms/genetics*
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Adenocarcinoma of Lung/genetics*
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China
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Prognosis
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