ObjectiveTo investigate the mutation status of the MET gene in tumor patients， with a focus on its expression in lung cancer tissues and its impact on patient prognosis， providing theoretical basis and potential targets for precise diagnosis and treatment of the tumors. MethodsA total of 1，627 tumor patient samples were collected from January 2021 to September 2025. High-throughput sequencing technology was used to conduct DNA-level gene detection on 137 tumor patients with MET mutations. The distribution of mutation sites in exons and introns， as well as the occurrence frequencies of MET gene amplification and gene fusion were analyzed， with particular attention paid to the mutation frequencies of each exon and the high-frequency variant types. Immunohistochemical staining was performed to analyze the expression levels of c-MET protein in tumor tissues of the 137 patients. Immunohistochemical analysis was conducted on tumor tissues of 9 patients with MET gene exon 14 skipping mutations to study the association between c-MET protein expression and this specific mutation type. RNA sequencing results， immunohistochemical staining data， and follow-up prognosis of lung cancer from the GEPIA2 database and TCGA database were comprehensively analyzed to explore the potential relationship between MET gene expression in tumor tissues and patient prognosis. ResultsAmong 1，627 tumor patients， 137 MET mutation patients were detected， including 93 males with an average age of （66.85±9.61） years and 44 females with an average age of （59.43±11.08） years. Lung cancer was the most common tumor type （117 cases）. MET gene expression was lower in breast cancer and glioblastoma multiforme， but higher in lung cancer and colorectal cancer as compared with the expression in normal tissues. Survival analysis showed that patients with high MET gene expression in lung adenocarcinoma had a shorter overall survival time than those with low expression. A total of 961 mutations were detected by next-generation sequencing， including 547 exon mutations and 374 intron mutations. MET gene amplification was found in 13 cases and gene fusion in 27 cases. The highest mutation frequency was in exon 2， followed by exon 5， exon 4， and exon 19. High-frequency variant types included c.2890C>A （p.L964M） on exon 4 and c.3028G>T （p.D1010Y） on exon 5. The c-MET protein expression was closely related to the type of gene mutation. Missense mutations often led to positive or strongly positive c-MET protein expression， while nonsense mutations often resulted in weak or absent c-MET protein expression. Among the 9 patients with MET gene exon 14 skipping mutations， the c-MET protein expression score was mostly 0 - 1， with only 1 case scoring 2. Among the 117 lung cancer patients， the incidence rate was higher in males than in females， and more common among stage Ⅲ-Ⅳ patients than among stage I-Ⅱ patients. Out of the 41 patients treated with surgery + targeted drugs （gutemitinib， savolitinib）， 8 cases of recurrence or metastasis were found during follow-up. ConclusionMET gene mutations exhibit specific mutation characteristics in different tumor types， and its expression levels show significant differences between various tumor tissues and normal tissues. It is closely related to the poor prognosis of lung adenocarcinoma patients. We found that c-MET protein expression is closely related to the type of MET gene mutation， especially in patients with MET gene exon 14 skipping mutations， which presents a characteristic expression pattern. This provides an important basis for the preliminary screening using immunohistochemistry in clinical practice.

ObjectiveTo analyze the characteristics of chromosomal variations and disease spectrum in patients with lymphohematopoietic system diseases in Hunan region. MethodsA cross-sectional study was conducted， collecting clinical data of 548 patients with lymphohematopoietic system diseases who underwent bone marrow chromosome karyotype analysis at Hunan Provincial People's Hospital from January 2021 to July 2025. G-banding technique was used to detect bone marrow chromosome karyotypes， and chromosome number and structural abnormalities were determined in accordance with the International System for Human Cytogenomic Nomenclature （ISCN） 2024. Retrospective statistical analysis was performed to correlate karyotype abnormality data with disease phenotypes such as myelodysplastic syndrome and acute/chronic leukemia. Classification of the types， frequencies， and reproducibility of variations was calculated to clarify the correlation between karyotypes and disease phenotypes. ResultsAmong the 548 patients who completed bone marrow chromosome karyotype analysis， 127 had chromosomal abnormalities （84 males and 43 females， mean age 58.26 years）. Among patients with autosomal abnormalities， 64 cases were detected with translocations （a total of 67 mutations）， with t（9；22）（q34；q11.2） （22 cases） and t（15；17）（q24；q21） （10 cases） as high-frequency translocations. Chromosomes 9， 15， etc. were high-frequency variant chromosomes， and 29 cases had complex mutations such as deletions/duplications， with +8 being the common type. There were 27 cases of sex chromosome abnormalities： 7 cases of X chromosome abnormalities （2 cases of chimerism） and 20 cases of Y chromosome deletions （7 cases of 45，X，-Y/46，XY chimerism）. Karyotype-disease correlation showed that t（9；22） was detected 9 times in acute leukemia and 8 times in chronic myeloid leukemia； +8， -Y， etc. were associated with multiple types of hematological diseases， and the same karyotype could correspond to multiple disease phenotypes. ConclusionThe high-frequency chromosomal abnormalities， karyotype-disease correlations， and high-frequency NGS genes in patients with lymphohematopoietic system diseases， providing a basis for their precise diagnosis and treatment.

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.

Objective:To investigate the epidemiological and clinical characteristics of patients with nontuberculous mycobacterial infections in Hunan Province using metagenomics next generation sequencing (mNGS) .Methods:Pathological data form 320 patients diagnosed with mycobacterial infections at the Department of Pathology of Hunan People′s Hospital from June 2019 to December 2023 were collected, including HE staining, acid-fast staring, and fungal fluorescence staining. mNGS was utilized for the classification of mycobacterial pathogens.Results:Among 320 patients with mycobacterial infections, 249 cases were positive for Mycobacterium tuberculosis and 71 cases were positive for nontuberculous mycobacteria. Thirteen genera of nontuberculous mycobacteria were identified from the mycobacterial samples, including Mycobacterium chelonae, Mycobacterium avium complex, Mycobacterium abscessus, Mycobacterium gordonae, Mycobacterium intracellulare, Mycobacterium xenopi, Mycobacterium kansasii, Mycobacterium paragordonae, Mycobacterium obuense, Mycobacterium marinum, Mycobacterium fortuitum, Mycobacterium smegmatis and Mycobacterium mageritense. Conclusions:Infections caused by nontuberculous mycobacteria are gradually increasing, transitioning from single-strain infections to multi-strain complex infections. The histopathological features of nontuberculous mycobacterial infections are difficult to distinguish form those of tuberculosis, posing significant challenges for clinical diagnosis and treatment.

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*

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.

Objective:To investigate the epidemiological and clinical characteristics of patients with nontuberculous mycobacterial infections in Hunan Province using metagenomics next generation sequencing (mNGS) .Methods:Pathological data form 320 patients diagnosed with mycobacterial infections at the Department of Pathology of Hunan People′s Hospital from June 2019 to December 2023 were collected, including HE staining, acid-fast staring, and fungal fluorescence staining. mNGS was utilized for the classification of mycobacterial pathogens.Results:Among 320 patients with mycobacterial infections, 249 cases were positive for Mycobacterium tuberculosis and 71 cases were positive for nontuberculous mycobacteria. Thirteen genera of nontuberculous mycobacteria were identified from the mycobacterial samples, including Mycobacterium chelonae, Mycobacterium avium complex, Mycobacterium abscessus, Mycobacterium gordonae, Mycobacterium intracellulare, Mycobacterium xenopi, Mycobacterium kansasii, Mycobacterium paragordonae, Mycobacterium obuense, Mycobacterium marinum, Mycobacterium fortuitum, Mycobacterium smegmatis and Mycobacterium mageritense. Conclusions:Infections caused by nontuberculous mycobacteria are gradually increasing, transitioning from single-strain infections to multi-strain complex infections. The histopathological features of nontuberculous mycobacterial infections are difficult to distinguish form those of tuberculosis, posing significant challenges for clinical diagnosis and treatment.

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.

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.

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.