1.Molecular pathology assisted diagnosis of Dedifferentiated liposarcoma in a case and analyzed its clinical and genetic characteristics
Jingjing AO ; Feicheng YANG ; Yuzhong YANG ; Jia TIAN ; Chenjia LU ; Xiaoying LIU ; Zhe ZHANG ; Wenxiu YANG ; Chunjian MO
Chinese Journal of Medical Genetics 2025;42(6):741-746
Objective:To explore the clinical characteristics and genetic etiology of a patient with De-differentiated liposarcoma (DDLPS).Methods:A 38-year-old female patient with DDLPS who had visited Hunan Provincial People′s Hospital in January 2025 was selected as the study subject. A retrospective study method was adopted to collect the patient′s clinical data, including current and past medical history, auxiliary examinations, pathological diagnosis, and results of genetic testing. This study was approved by the Ethics Committee of Hunan Provincial People′s Hospital (Ethics No.: KY2025-150).Results:The patient had presented with abdominal pain and abdominal mass. Imaging studies revealed ascites and space-occupying abdominal lesions. Postoperative pathological examination showed that the tumor was composed of spindle cells, and its morphology and immunohistochemistry had made it difficult to distinguish between DDLPS and leiomyosarcoma. High-throughput sequencing revealed characteristic molecular alterations of DDLPS, and fluorescence in situ hybridization confirmed MDM2 gene amplification, leading to a diagnosis of DDLPS. Conclusion:The patient was diagnosed with DDLPS. Her clinical manifestations and pathological features were consistent with the characteristics of DDLPS. Molecular pathological testing played a crucial role in the diagnosis and provided a crucial reference for subsequent treatment.
2.Characterization of intestinal flora and transcriptomics in rats with gastric cancer
Chenxi ZHANG ; Jijuan LI ; Feicheng ZHANG ; Tianyu GAO ; Xinyue LIANG ; Lijia PAN
Acta Laboratorium Animalis Scientia Sinica 2025;33(1):70-81
Objective To analyze differences in the intestinal microbiota and transcriptomics between N-methyl-N'-nitro-N-nitrosoguanidine(MNNG)gastric cancer rats and normal rats and to analyze the correlation between the two,so as to provide a reference for related studies using MNNG gastric cancer rats as a model.Methods A total of 12 Wistar rats were randomly divided into normal(NM)and gastric cancer(GC)groups.The GC group was given a concentration of 20 mg/mL of MNNG by gavage with a dose of 100 g/mL once a day,and the NM group was given the same amount of normal saline by gavage.Samples were collected for testing after 16 weeks of continuous intervention.The gastric tissues were collected and stained by HE staining to observe morphological changes in the gastric mucosa of the two groups,and the expression levels of differential genes were detected by transcriptome sequencing.The cecal contents were collected for 16S rRNA sequencing.Results(1)Visual observation and HE results showed that the volume of gastric mucosa in the NM group was normal,the surface was glossy,the gastric wall was elastic,the direction of the mucosal folds was regular,there were no hyperplasia or hemorrhagic spots.In the GC group,the volume of gastric mucosa was reduced,the gastric wall was thinned,elasticity was poor,the direction of the folds was disordered and irregular,and there was a bulge accompanied by yellow-black keratotic hyperplasia.In the NM group,the squamous epithelial layer,submucosa,and muscular layer of the gastric mucosa were clear,with no hyperplasia and keratinization.In the GC group,the gastric mucosa had disorganized layers and cell polarity,with different cell morphologies;the squamous epithelial layer was destroyed,and squamous epithelial cells were hyperplasic,keratinized,and had invaded the muscular layer by proliferation.The modeling was considered successful.(2)The results of intestinal microbiota sequencing showed that the abundance of Akkermansia and Lactobacillus in MNNG gastric cancer rats decreased significantly,and the abundance of the rumen coccaceae Prevonella,and Blauter increased significantly.(3)The three key pathways obtained by transcriptomic sequencing and KEGG pathway enrichment analysis were amebiasis,systemic lupus erythematosus,and the PI3K-Akt signaling pathway,and five genes differentially enriched in these three pathways were those for MCPT8I2,IGH-6,IGHG1,ACTN2,and VEGF-D.(4)Combined analysis of intestinal microbiota and transcriptomics showed that_UCG-005,Prevonella_UCG-003 and Brautella were positively correlated with amebiasis,systemic lupus erythematosus,and the PI3K-Akt signaling pathway.Conclusions The abundance of intestinal microbiota in gastric cancer rats formed by MNNG gavage is different from that of normal rats.The genes for MCPT8I2,IGH-6,IGHG1,ACTN2 and VEGF-D may be up-regulated in gastric cancer induced by MNNG gavage.Combined analysis of intestinal microbiota and differential genes suggested that the mechanism of MNNG carcinogenesis may be mainly related to the destruction of gastric mucosa and the inflammatory response.
3.Analysis of clinical phenotype and genetic variant in a patient with De-differentiated liposarcoma.
Jingjing AO ; Feicheng YANG ; Yuzhong YANG ; Jia TIAN ; Chenjia LU ; Xiaoying LIU ; Zhe ZHANG ; Wenxiu YANG ; Chunjian MO
Chinese Journal of Medical Genetics 2025;42(6):741-746
OBJECTIVE:
To explore the clinical characteristics and genetic etiology of a patient with De-differentiated liposarcoma (DDLPS).
METHODS:
A 38-year-old female patient with DDLPS who had visited Hunan Provincial People's Hospital in January 2025 was selected as the study subject. A retrospective study method was adopted to collect the patient's clinical data, including current and past medical history, auxiliary examinations, pathological diagnosis, and results of genetic testing. This study was approved by the Ethics Committee of Hunan Provincial People's Hospital (Ethics No.: KY2025-150).
RESULTS:
The patient had presented with abdominal pain and abdominal mass. Imaging studies revealed ascites and space-occupying abdominal lesions. Postoperative pathological examination showed that the tumor was composed of spindle cells, and its morphology and immunohistochemistry had made it difficult to distinguish between DDLPS and leiomyosarcoma. High-throughput sequencing revealed characteristic molecular alterations of DDLPS, and fluorescence in situ hybridization confirmed MDM2 gene amplification, leading to a diagnosis of DDLPS.
CONCLUSION
The patient was diagnosed with DDLPS. Her clinical manifestations and pathological features were consistent with the characteristics of DDLPS. Molecular pathological testing played a crucial role in the diagnosis and provided a crucial reference for subsequent treatment.
Humans
;
Female
;
Adult
;
Liposarcoma/diagnosis*
;
Phenotype
;
Proto-Oncogene Proteins c-mdm2/genetics*
4.Characterization of intestinal flora and transcriptomics in rats with gastric cancer
Chenxi ZHANG ; Jijuan LI ; Feicheng ZHANG ; Tianyu GAO ; Xinyue LIANG ; Lijia PAN
Acta Laboratorium Animalis Scientia Sinica 2025;33(1):70-81
Objective To analyze differences in the intestinal microbiota and transcriptomics between N-methyl-N'-nitro-N-nitrosoguanidine(MNNG)gastric cancer rats and normal rats and to analyze the correlation between the two,so as to provide a reference for related studies using MNNG gastric cancer rats as a model.Methods A total of 12 Wistar rats were randomly divided into normal(NM)and gastric cancer(GC)groups.The GC group was given a concentration of 20 mg/mL of MNNG by gavage with a dose of 100 g/mL once a day,and the NM group was given the same amount of normal saline by gavage.Samples were collected for testing after 16 weeks of continuous intervention.The gastric tissues were collected and stained by HE staining to observe morphological changes in the gastric mucosa of the two groups,and the expression levels of differential genes were detected by transcriptome sequencing.The cecal contents were collected for 16S rRNA sequencing.Results(1)Visual observation and HE results showed that the volume of gastric mucosa in the NM group was normal,the surface was glossy,the gastric wall was elastic,the direction of the mucosal folds was regular,there were no hyperplasia or hemorrhagic spots.In the GC group,the volume of gastric mucosa was reduced,the gastric wall was thinned,elasticity was poor,the direction of the folds was disordered and irregular,and there was a bulge accompanied by yellow-black keratotic hyperplasia.In the NM group,the squamous epithelial layer,submucosa,and muscular layer of the gastric mucosa were clear,with no hyperplasia and keratinization.In the GC group,the gastric mucosa had disorganized layers and cell polarity,with different cell morphologies;the squamous epithelial layer was destroyed,and squamous epithelial cells were hyperplasic,keratinized,and had invaded the muscular layer by proliferation.The modeling was considered successful.(2)The results of intestinal microbiota sequencing showed that the abundance of Akkermansia and Lactobacillus in MNNG gastric cancer rats decreased significantly,and the abundance of the rumen coccaceae Prevonella,and Blauter increased significantly.(3)The three key pathways obtained by transcriptomic sequencing and KEGG pathway enrichment analysis were amebiasis,systemic lupus erythematosus,and the PI3K-Akt signaling pathway,and five genes differentially enriched in these three pathways were those for MCPT8I2,IGH-6,IGHG1,ACTN2,and VEGF-D.(4)Combined analysis of intestinal microbiota and transcriptomics showed that_UCG-005,Prevonella_UCG-003 and Brautella were positively correlated with amebiasis,systemic lupus erythematosus,and the PI3K-Akt signaling pathway.Conclusions The abundance of intestinal microbiota in gastric cancer rats formed by MNNG gavage is different from that of normal rats.The genes for MCPT8I2,IGH-6,IGHG1,ACTN2 and VEGF-D may be up-regulated in gastric cancer induced by MNNG gavage.Combined analysis of intestinal microbiota and differential genes suggested that the mechanism of MNNG carcinogenesis may be mainly related to the destruction of gastric mucosa and the inflammatory response.
5.Molecular pathology assisted diagnosis of Dedifferentiated liposarcoma in a case and analyzed its clinical and genetic characteristics
Jingjing AO ; Feicheng YANG ; Yuzhong YANG ; Jia TIAN ; Chenjia LU ; Xiaoying LIU ; Zhe ZHANG ; Wenxiu YANG ; Chunjian MO
Chinese Journal of Medical Genetics 2025;42(6):741-746
Objective:To explore the clinical characteristics and genetic etiology of a patient with De-differentiated liposarcoma (DDLPS).Methods:A 38-year-old female patient with DDLPS who had visited Hunan Provincial People′s Hospital in January 2025 was selected as the study subject. A retrospective study method was adopted to collect the patient′s clinical data, including current and past medical history, auxiliary examinations, pathological diagnosis, and results of genetic testing. This study was approved by the Ethics Committee of Hunan Provincial People′s Hospital (Ethics No.: KY2025-150).Results:The patient had presented with abdominal pain and abdominal mass. Imaging studies revealed ascites and space-occupying abdominal lesions. Postoperative pathological examination showed that the tumor was composed of spindle cells, and its morphology and immunohistochemistry had made it difficult to distinguish between DDLPS and leiomyosarcoma. High-throughput sequencing revealed characteristic molecular alterations of DDLPS, and fluorescence in situ hybridization confirmed MDM2 gene amplification, leading to a diagnosis of DDLPS. Conclusion:The patient was diagnosed with DDLPS. Her clinical manifestations and pathological features were consistent with the characteristics of DDLPS. Molecular pathological testing played a crucial role in the diagnosis and provided a crucial reference for subsequent treatment.
6.Masquelet technique combined with tissue flap transfer in treatment of early and middle stage infected composite bone and soft tissue defects after internal fixation of tibial fractures
Zhiyu HU ; Zhenfeng LI ; Li SONG ; Guangxian ZHU ; Chaofeng XING ; Xin CHEN ; Xu CHEN ; Zirun XIAO ; Tao YANG ; Yingjie XIONG ; Jia CHEN ; Feicheng CANG ; Gaowei ZHANG ; Mingwu ZHOU
Chinese Journal of Microsurgery 2023;46(6):648-654
Objective:To explore the clinical efficacy of Masquelet technique combined with tissue flap transfer in the treatment of infectious composite bone and soft tissue defects in the early and middle stages after internal fixation for tibial fractures.Methods:From October 2017 to November 2020, 12 patients (13 tibial fractures) with infectious bone and soft tissue defects in the early and middle stages after internal fixation were treated in the Department of Orthopaedics, 988th Hospital of the Joint Logistics Support Force of CPLA by two-phased surgery with retaining internal fixation. Phase I procedures were thoroughly removal of the infected lesions and failed screws, preserving internal implants as many as possible, implantation of absorbable calcium sulphate and an antibiotics blended string of beads into the distal and proximal medullary cavity of the fractured bones, filling the bone defect and wrapping the internal implants with antibiotics loaded bone cement. The size of defects was 3.5 cm × 5.0 cm-7.5 cm × 14.5 cm, and the flaps for wound coverage sized 4.0 cm × 5.5 cm-8.0 cm × 15.0 cm. As for the repair of donor site, 8 limbs were sutured directly, 5 limbs could not be closed completely, and the remaining wounds were covered by skin grafting after suture. Based on well control of infection and stable clinical signs, fillings of bone cement were then removed in Phase II surgery, or 6-9 weeks after primary surgery. Autologous cancellous bone pieces or composite allogeneic bone were fully implanted around the induction membrane formed by Masquelet technique, and auxiliary steel plates were implanted for internal fixation of unstable fractures. After discharge, the patients visited the outpatient clinic regularly, and combined with Wechat follow-up. The texture, colour and bone healing were observed. At the last follow-up, the function of the affected limbs were assessed according to Johner-Wruhs evaluation standard.Results:After Phase I surgery, 13 flaps survived smoothly without vascular compromise. The wounds healed in Phase I. Two patients (2 sides) had recurrent infections. Re-debridement was performed and external fixation was applied after removal of internal fixation. After Phase II surgery, all patients were included in 12-26 months of follow-up, with an average of 18 months. Thirteen lower leg fractures healed well, and the time of bone healing was 16-25 (average 19.5) weeks. The Johner Wruhs criteria was used in evaluation of the function of affected limbs, and it was found that 6 patients were in excellent, 5 in good and 2 in fair.Conclusion:It is feasible while preserving the internal implants, to use membrane induction technique (Masquelet technique) combined with flap transfer, together with the absorbable calcium sulphate antibiotic sustained-release beads as a carrier in the phased treatment of infectious bone defects and bone exposure in the early and middle stages after the surgery of tibial internal fixation. It also gives a higher rate of excellence in surgical outcome. This study explores a treatment procedure for traumatic bone infection combined with composite soft tissue defects.
7.Repair of composite tissue defect in Achilles tendon area with nutrient vessel of medial and lateral sural sutaneous nerve chimeric tissue flap based on posterior perforating branch of peroneal artery
Shuping ZHOU ; Chaofeng XING ; Tao YANG ; Guangchao ZHANG ; Yingjie XIONG ; Jia CHEN ; Zhenfeng LI ; Zirun XIAO ; Feicheng CANG ; Shimin LI ; Li SONG
Chinese Journal of Microsurgery 2022;45(4):394-399
Objective:To investigate the efficacy of the nutrient vessel of medial and lateral sural subcutaneous nerve chimeric tissue flap based on posterior perforating branch of peroneal artery to repair the composite tissue defect in the Achilles tendon area.Methods:From January 2016 to June 2021, 12 patients suffering from infectious wound with defect of Achilles tendon were treated in the Department of Trauma and Microscopic Orthopaedics, 988th Hospital of the Joint Logistics Support Force of PLA. The area of soft tissue defect around Achilles tendon was 2.5 cm× 4.5 cm-8.0 cm×12.5 cm, and the length of the defect of Achilles tendon was 3.0-7.0 cm. The defect around the Achilles tendon were repaired with the nutrient vessel of medial and lateral sural subcutaneous nerve chimeric Achilles tendon flap (ATF) and the posterior perforating branch of peroneal artery was used as the vessel of blood supply. The size of flap was 3.0 cm×5.0 cm-9.0 cm×13.0 cm, and the size of the ATF was 3.0 cm×4.0 cm-3.0 cm×8.0 cm. The donor sites were sutured directly (8 cases) or repaired with skin graft (4 cases). External fixation were put on for 6 weeks after surgery. Then the external fixation was removed and the functional exercise gradually started. Outpatient clinic follow-ups were carried out regularly. Thermann Achilles tendon function assessment system was used to evaluate the last follow-up.Results:The chimeric ATF was harvested and the blood supply of each flap was good during the operation. There was no vascular crisis after surgery. The flaps survived smoothly and the wound achieved grade A healing. All patients were entered follow-up that lasted for 10-24 months. There was good appearance of flaps with minor bloating, and the colour of flaps was similar to the skin around the receiving site. The texture was soft with normal function of the lower legs and ankle. Tendon function was evaluated by Thermann Achilles tendon function assessment system, the result were 8 cases in excellent and 4 cases in good.Conclusion:The nutrient vessel of medial and lateral sural subcutaneous nerve chimeric tissue flap based on posterior perforating branch of peroneal artery can accurately repair a composite tissue defect in the Achilles tendon area, and it is one of the effective methods for the repair of a composite soft tissue wound with Achilles tendon defect.
8.Correlation between right-to-left shunt and infarct pattern in patients with cryptogenic stroke
Haizhou QIAN ; Linling YIN ; Huan YANG ; Shanshan ZHANG ; Dan HU ; Feicheng YU ; Hong ZHANG
International Journal of Cerebrovascular Diseases 2020;28(8):587-592
Objective:To investigate the correlation between right-to-left shunt (RLS) and infarct pattern in patients with cryptogenic stroke.Methods:Young and middle-aged patients with acute cryptogenic stroke admitted to the Department of Neurology, Xiaogan Central Hospital from May 2016 to January 2020 were enrolled retrospectively. The demographic data, vascular risk factors, baseline blood pressure, laboratory findings, stroke severity, infarct location and distribution pattern were documented. The patients were divided into RLS group and non-RLS group according to the findings of the transcranial Doppler ultrasound foaming test. They were divided into single lesion group and multiple-lesion group according to the findings of diffusion-weighted imaging. Multivariate logistic regression analysis was used to identify the correlation between RLS and infarct pattern. Results:A total of 68 patients with acute cryptogenic stroke were included, 37 of them were male (54.4%), and their age was 47.63±6.57 years (range, 31-59 years). Thirty patients (44.1%) had RLS, including 22 (73.3%) with mild shunt and 8 (26.7%) with severe shunt. The proportions of men, cortical-subcortical infarction and multiple blood supply area lesions in the RLS group were significantly higher than those in the non-RLS group, while triacylglycerol, body mass index, the proportions of patients with subcortical infarction and single lesions in the single vessel blood supply area were significantly lower than those in the non-RLS group ( P<0.05). The proportions of patients with anterior circulation+ posterior circulation infarction, cortical-subcortical infarction, and RLS in the multi-lesion group were significantly higher than those in the single-lesion group, while the proportion of patients with subcortical infarction was significantly lower than that in the single-lesion group (all P<0.05). Multivariate logistic regression analysis showed that RLS was an independent risk factor for multiple infarctions (odds ratio 6.681, 95% confidence interval 1.206-37.019; P=0.030). Conclusion:RLS is independently associated with multiple infarctions in patients with cryptogenic stroke.
9. Status of non-steroidal anti-inflammatory drugs use in areas with a high incidence of upper gastrointestinal cancer in China: a multi-center cross-sectional survey
Shuanghua XIE ; Ru CHEN ; Deli ZHAO ; Yuqin LIU ; Changqing HAO ; Yongzhen ZHANG ; Guohui SONG ; Zhaolai HUA ; Jialin WANG ; Shuzheng LIU ; Liwei ZHANG ; Dantong SHAO ; Yu QIN ; Minjuan LI ; Jiachen ZHOU ; Rongshou ZHENG ; Guiqi WANG ; Wenqiang WEI
Chinese Journal of Preventive Medicine 2019;53(11):1098-1103
Objective:
To describe the status of non-steroidal anti-inflammatory drugs (NSAIDs) use in areas with a high incidence of upper gastrointestinal cancer in China.
Methods:
This study was based on the National Key Research and Development Program of "National Precision Medicine Cohort of Esophageal Cancer" and "Study on Identification and Prevention of High-risk Populations of Gastrointestinal Malignancies (Esophageal cancer, Gastric cancer and Colorectal cancer)" . From January 2017 to August 2018, 212 villages or communities with a high incidence of esophageal cancer or gastric cancer were selected from 12 regions in 6 provinces. A total of 35 910 residents aged between 40 and 69 years old who met the inclusion criteria and signed the informed consent were investigated and enrolled in this study. The use of NSAIDs, demographic characteristics, health-related habits, height, weight, and blood pressure were collected by the questionnaire and physical examination. The status of main NSAIDs (aspirin, acetaminophen and ibuprofen) use with the difference varying in genders, age groups and regions were analyzed by using χ2 test and Cochran-Armitage trend analysis method.
Results:
Of 35 910 subjects, the mean age was (54.6±7.1) years old and males accounted for 43.42% (15 591). The overall prevalence of NSAIDs intake was 4.56% (1 638), but it significantly varied in different provinces (
10.Repair of the soft tissue defect of the fifth finger with a reversed ulnar fasciocutaneous flap from the fifth metacarpal side.
Yu-feng JIAO ; Yao-sheng LI ; Yan-zhang GUO ; De-Yyng YANG ; Guang-lin ZHOU ; Xu-hai SUN
Chinese Journal of Plastic Surgery 2005;21(1):11-12
OBJECTIVETo introduce a method by reversed ulnar fasciocutaneous flap incised form the ulnar side of the fifth metacarpal area for repairing the soft tissue defect of the fifth finger.
METHODSFrom May 2001 to September 2001, ten patients with the soft tissue defects of the thenar side, dorsal side or ulnar side of the fifth finger were treated with the reversed ulnar fasciocutaneous flap incised from the fifth metacarpal area. The axial line of the flap was the line from ulnar side of the head of the fifth metacarpal bone to the pisiform level. The revolving point of the flap pedicle was 0.5-1 cm near the proximal end of the metacarpal-phalangeal joint.The area of the flap was form 5.0 cm x 3.5 cm to 1.5 cm x 1.0 cm.
RESULTSAll flaps of the ten cases were alive. 5-7 months followed-up show that, after operation, the flap present sensation in 6-12 mm, with soft texture and good appearances.
CONCLUSIONSThe advantages of this operative method were as follows: the reversed ulnar fasciocutaneous flap of the fifth metacarpal area have reliable blood supply, it was easily dissected and with good texture. So far this kind of flap is a good choice in repairing the soft tissue of the fifth finger.
Adolescent ; Adult ; Fascia ; transplantation ; Female ; Finger Injuries ; surgery ; Humans ; Metacarpal Bones ; surgery ; Middle Aged ; Reconstructive Surgical Procedures ; Soft Tissue Injuries ; surgery ; Surgical Flaps ; Young Adult

Result Analysis
Print
Save
E-mail