Objective: To develop QingNangTCM, a specialized large language model (LLM) tailored for expert-level traditional Chinese medicine (TCM) question-answering and clinical reasoning, addressing the scarcity of domain-specific corpora and specialized alignment. Methods: We constructed QnTCM_Dataset, a corpus of 100 000 entries, by integrating data from ShenNong_TCM_Dataset and SymMap v2.0, and synthesizing additional samples via retrieval-augmented generation (RAG) and persona-driven generation. The dataset comprehensively covers diagnostic inquiries, prescriptions, and herbal knowledge. Utilizing P-Tuning v2, we fine-tuned the GLM-4-9B-Chat backbone to develop QingNangTCM. A multi-dimensional evaluation framework, assessing accuracy, coverage, consistency, safety, professionalism, and fluency, was established using metrics such as bilingual evaluation understudy (BLEU), recall-oriented understudy for gisting evaluation (ROUGE), metric for evaluation of translation with explicit ordering (METEOR), and LLM-as-a-Judge with expert review. Qualitative analysis was conducted across four simulated clinical scenarios: symptom analysis, disease treatment, herb inquiry, and failure cases. Baseline models included GLM-4-9B-Chat, DeepSeek-V2, HuatuoGPT-II (7B), and GLM-4-9B-Chat (freeze-tuning). Results: QingNangTCM achieved the highest scores in BLEU-1/2/3/4 (0.425/0.298/0.137/0.064), ROUGE-1/2 (0.368/0.157), and METEOR (0.218), demonstrating a balanced and superior normalized performance profile of 0.900 across the dimensions of accuracy, coverage, and consistency. Although its ROUGE-L score (0.299) was lower than that of HuatuoGPT-II (7B) (0.351), it significantly outperformed domain-specific models in expert-validated win rates for professionalism (86%) and safety (73%). Qualitative analysis confirmed that the model strictly adheres to the “symptom-syndrome-pathogenesis-treatment” reasoning chain, though occasional misclassifications and hallucinations persisted when dealing with rare medicinal materials and uncommon syndromes. Conclusion Combining domain-specific corpus construction with parameter-efficient prompt tuning enhances the reasoning behavior and domain adaptation of LLMs for TCM-related tasks. This work provides a technical framework for the digital organization and intelligent utilization of TCM knowledge, with potential value for supporting diagnostic reasoning and medical education.

Li-Fraumeni syndrome(LFS)is a rare autosomal dominant genetic disorder.Patients with LFS tend to develop tumors at a young age and are at risk of multiple types of cancer.The core pathogenic mechanism of LFS is germline mutation of the TP53 gene,which leads to loss of function of the p53 protein and an increase in the risk of tumor development.There are many tumor types closely related to LFS,including soft tissue sarcoma,osteosarcoma,brain tumors,breast cancer,and adrenocortical carcinoma.Although some common mutation sites of the TP53 gene in LFS patients have been identified,there are still differences in mutation sites among different patients,and the type of TP53 gene mutation may affect the clinical manifestations and prognosis of patients.Therefore,genetic testing for LFS patients to determine the specific mutation form of TP53 is of great significance.This article reviews the clinical patho-logical characteristics,treatment methods,and prognosis of LFS-related tumor patients,aiming to provide useful refer-ences for clinical practice.

Atypical teratoid/rhabdoid tumor(AT/RT)is a rare,highly malignant central nervous system tumor with a poor prognosis and often occurs in children under 3 years of age.In this article,the clinicopathological features,molecular subtypes,pathogenesis,treatment,prognosis,relevant clinical trials,and existing problems of AT/RT will be reviewed to deepen the understanding of AT/RT.

Li-Fraumeni syndrome(LFS)is a rare autosomal dominant genetic disorder.Patients with LFS tend to develop tumors at a young age and are at risk of multiple types of cancer.The core pathogenic mechanism of LFS is germline mutation of the TP53 gene,which leads to loss of function of the p53 protein and an increase in the risk of tumor development.There are many tumor types closely related to LFS,including soft tissue sarcoma,osteosarcoma,brain tumors,breast cancer,and adrenocortical carcinoma.Although some common mutation sites of the TP53 gene in LFS patients have been identified,there are still differences in mutation sites among different patients,and the type of TP53 gene mutation may affect the clinical manifestations and prognosis of patients.Therefore,genetic testing for LFS patients to determine the specific mutation form of TP53 is of great significance.This article reviews the clinical patho-logical characteristics,treatment methods,and prognosis of LFS-related tumor patients,aiming to provide useful refer-ences for clinical practice.

Atypical teratoid/rhabdoid tumor(AT/RT)is a rare,highly malignant central nervous system tumor with a poor prognosis and often occurs in children under 3 years of age.In this article,the clinicopathological features,molecular subtypes,pathogenesis,treatment,prognosis,relevant clinical trials,and existing problems of AT/RT will be reviewed to deepen the understanding of AT/RT.

Objective:To investigate the clinicopathological features of children with metachronous or synchronous primary tumors and to identify related genetic tumor syndromes.Methods:The clinicopathological data of 4 children with multiple primary tumors diagnosed in the Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China from 2011 to 2023 were collected. The histological, immunophenotypic and molecular characteristics were examined using H&E staining, immunohistochemical staining, PCR, Sanger sequencing and next-generation sequencing (NGS). The patients were followed up.Results:Case 1 was an 8-year-old boy with the adrenal cortical carcinoma, and 5 years later a poorly differentiated gastric adenocarcinoma was detected. Case 2 was a 2-year-old boy, presented with a left ventricular choroid plexus carcinoma, and a hepatoblastoma was detected 8 months later. Case 3 was a 9-month-old girl, diagnosed with renal rhabdoid tumor first and intracranial atypical teratoid/rhabdoid tumor (AT/RT) 3 months later. Case 4 was a 7-year-old boy and had a sigmoid colon adenocarcinoma 3 years after the diagnosis of a glioblastoma. The morphology and immunohistochemical features of the metachronous or synchronous primary tumors in the 4 cases were similar to the corresponding symptom-presenting/first-diagnosed tumors. No characteristic germ line mutations were detected in cases 1 and 2 by relevant molecular detection, and the rhabdoid tumor predisposition syndrome was confirmed in case 3 using NGS. Case 4 was clearly related to constitutional mismatch repair deficiency as shown by the molecular testing and clinical features.Conclusions:Childhood multiple primary tumors are a rare disease with histological morphology and immunophenotype similar to the symptom-presenting tumors. They are either sporadic or associated with a genetic (tumor) syndrome. The development of both tumors can occur simultaneously (synchronously) or at different times (metachronously). Early identification of the children associated with genetic tumor syndromes can facilitate routine tumor screening and early treatment.

Purpose To investigate the clinicopathological features and molecular features of diffuse paediatric-type high-grade glioma,H3-wildtype and IDH-wildtype(pHGG H3/IDH WT)of central nervous system.Methods The clinical and pathological data of 6 cases of pHGG H3/IDH WT diagnosed by Department of Pathology,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine were retrospectively ana-lyzed.The expression of GFAP,Olig2,Syn,NeuN,IDH1,H3K27M was detected by immunohistochemistry(automatic im-munohistochemical staining device).The EGFR and MYCN gene amplification was detected by FISH.IDH,H3F3A and TERT gene mutations were detected by Sanger sequencing.The literatures were reviewed.Results The 6 patient's age ranged from 5 to 11 years,with a median age of 7.5 years.Among them,there were 2 males and 4 females,with a male to female ratio of 1∶2.The clinical symptoms were limb weakness,hemi-plegia,vomiting,convulsions,blurred vision and so on.Tumors were located in supratentorial brain for 5 cases and one in brain stem and cerebellum.Histologically,3 cases showed the mor-phological features of high-grade glioma,2 of which with giant cells.Two cases showed embryonal tumor-like features,and one had both high-grade glioma and embryonal tumor-like morpho-logical features.Microvascular proliferation and/or necrosis were present in 5 cases.Myxoid/microcystic stroma was found in 1 case.By immunohistochemistrically,the tumor cells were par-tially or focally positive for GFAP(6/6)and Olig2(6/6),fo-cally positive for Syn(3/6)and NeuN(1/6),and negative for IDH1,H3K27M,H3G34V and H3G34R.ATRX,H3K27me3,INI1 and BRG1 were diffusely positive(6/6).The positive rate of p53 was 5％-95％,and Ki67 proliferation index was 40％-90％.Molecular analysis showed that all 6 cases were IDH1/2 and H3F3A wild-type.MYCN amplification was observed in 2 cases.Two cases of EGFR amplification with polyploidy;one case had both EGFR amplification and MYCN amplification.PDGFRA amplification was observed in one case.For treatment and follow-up,the patients received postoperative radiotherapy and/or temozolomide chemotherapy;three patients died at 1 to 5 months after operation.Two patients survived and were followed up for 4 and 7 months,respectively.One patient was lost to fol-low-up.Conclusions pHGG H3/IDH WT is a highly malignant tumor with glioblastoma-like or embryonal tumor-like features.According to the molecular characteristics,it can be divided into three molecular subtypes,RTK1,RTK2 and MYCN.pHGG MYCN has the worst prognosis.Attention should be paid to the differential diagnosis of other pediatric or adult high-grade glio-mas and embryonal tumors.

Purpose To investigate the clinicopathological features,molecular features,treatment and prognosis of infant-type hemispheric glioma(IHG)with ALK gene fusion of central nervous system.Methods Clinical data of 2 cases of IHG were collected,and the expression of GFAP,Olig2,Syn,NeuN,H3K27M,H3K27me3,H3G34V,H3G34R,ALK,and BRAF were detected using immunohistochemistry.FISH and NGS method was used to detect ALK fusion genes,and relevant liter-atures were reviewed.Results Case 1,a male,15 months old,showed a huge mass in the left frontal and temporal lobe on cranial MRI.Case 2(external hospital consultation),a male,18 months old,was found to have a space occupying lesion in the frontaltemporal lobe.Microscopic examination:in case 1,tumor cells showed diffuse patchy pattern,with small nodular shapes in some areas which separated by fibrous blood vessels.The cell density was high,and the nucleus was round or oval.The mitotic was easy to see,accompanied by bleeding and nec-rosis.In case 2,tumor cells were diffusely distributed,some of them formed pseudorosette around blood vessels and others ar-ranged in bundles.The cells were mild to moderate dysplasia with round or oval nuclei,light staining,small nucleoli,rare mitotic figures,and no microvascular proliferation or necrosis.Immunophenotypes:in case 1 tumor cells were focal positive for GFAP and NeuN,diffuse positive for H3K27me3,ALK(cyto-plasm and cell membrane),and ATRX,p53 positive(30％),negative for Olig2,Syn,H3K27M,H3G34V,H3G34R,and BRAF,Ki67 proliferation index of 20％.In case 2:tumor cells were diffusedly expressed GFAP,ATRX,H3K27me3,ALK(cytoplasm and cell membrane),and Olig2,Syn was weakly positive,NeuN and p53 were negative,and Ki67 proliferation index was 5％.FISH and NGS tests showed ALK gene fusion in both cases,with EML4::ALK fusion in case 1 and LRRFIP1::ALK fusion in case 2.Follow up for 7 months showed that the residual lesion in case 1 had shrunk and was generally in good condition;case 2 lost follow-up.Conclusion The histology of IHG often presents as high-grade gliomas or accompanied by an-aplastic features.The heterogeneity of ALK variants can also manifest as low-grade gliomas,which need to be differentiated from other high-grade gliomas,desmoplastic infantile gangliogli-oma/astrocytoma,ependymoma,etc.

Chronic obstructive pulmonary disease (COPD) has a high global morbidity and mortality and a severe disease burden, yet progress in treatment and prevention has been slow in recent decades. Early COPD has few symptoms and is severely underdiagnosed and undertreated; it is crucial to search for effective clues of early COPD and provide management interventions. By reviewing the definition, risk factors, diagnosis and management interventions, this study explores the disease evolution of early-stage COPD, which can help clinical practice to develop more effective preventive and therapeutic strategies for stopping or slowing down the natural progression of the disease, improving the long-term prognosis, and reducing the disease burden.
Humans ; Pulmonary Disease, Chronic Obstructive/drug therapy* ; Prognosis ; Risk Factors

Objective: To introduce the application of free-style perforator flap based on aesthetic units to repair facial defect after tumor resection. Methods: By following the concept of free-style perforator flap and the principle of facial aesthetic unit, the design of a free-style perforator flap allowed over any nearby cutaneous vessel chosen purely on the characteristics of its Doppler signal. Conventional knowledge of anatomical landmarks and possible vascular variations were less relevant. A greater freedom in flap selection was gained to recover defect in different forms such as rotation flap, advanced flap and propeller flap, which were all based on free-style perforators. The flap size ranged from 1.5 cm×1.0 cm to 12.0 cm×6.0 cm with the perforator diameter of 0.3-3.0 mm in pedicle, and some of the pedicles are "perforator clusters" . Results: A total of 72 cases underwent surgery, and 68 cases survived completely with satisfactory appearance. 1 case healed two weeks later through dressing due to undesired healing, which result ed from high tension secondary postoperative blooding. 3 cases healed in a delay due to congestion and gained acupuncture treat. Conclusions The free-style perforator flap, which depended on Doppler-discerned perforator and facial aesthetic unit, represents safe, reliable and versatile for repairing facial defect after extended resection, and it not only offers a greater freedom in flap selection but also provides good aesthetic result.