1.Combined detection of p16 and Rb with high-risk human papilloma virus infection in non-oropharyngeal squamous cell carcinoma of the head and neck
Sisi LIU ; Hong ZHANG ; Donglin MA ; Hongfei WAN ; Yahui LI ; Rui LI ; Honggang LIU ; Yingshi PIAO
Chinese Journal of Pathology 2025;54(6):612-617
Objective:To investigate the correlation of combined detection of p16 and Rb with high-risk human papilloma virus (HR-HPV) infection in non-oropharyngeal squamous cell carcinoma (NOPSCC) of the head and neck.Methods:A total of 68 NOPSCC cases of the head and neck (23 cases of the nasal cavity and paranasal sinuses and 45 cases of larynx) with complete clinical and pathological data, diagnosed at the Beijing Tongren Hospital, Capital Medical University, Beijing, China from November 2013 to December 2023, were collected. The expression of p16 and Rb was detected using immunohistochemistry of the EnVision two-step method, while the HR-HPV mRNA expression was detected using in situ hybridization. The concordance, sensitivity, and specificity of p16 alone and the combined detection of p16 and Rb for detecting HR-HPV infection were analyzed.Results:Among the 68 patients with NOPSCC, 53 were male and 15 were female, with a median age of 63.5 (range, 57.3 to 66.8) years. 41 patients had a smoking history and 27 did not. 33 patients had an early T stage (T1/T2) and 35 had advanced T stage (T3/T4). 14 patients had lymph node metastasis and 2 had distant metastasis. Histological types included 62 cases of keratinized squamous cell carcinoma, 5 cases of non-keratinized squamous cell carcinoma, and 1 case of basal-like squamous cell carcinoma. 25 cases were positive for p16. Among the 25 cases, 16 cases were positive for Rb, and 6 cases were positive for HR-HPV mRNA. 43 cases were negative for p16, including 38 cases positive for Rb and no cases positive for HR-HPV mRNA. The concordance between p16 and HR-HPV mRNA expression was poor ( Kappa=0.285, P=0.001), with a sensitivity of 100.0% and specificity of 69.4%. In contrast, the combined detection of p16+/Rb- showed high concordance with HR-HPV mRNA expression ( Kappa=0.719, P<0.001), with a sensitivity of 100.0% and specificity of 95.2%. Conclusions:In NOPSCC of the head and neck, the combined detection of p16 and Rb may be used as a marker for assessing HR-HPV infection. Recognizing the p16+/Rb- expression pattern in NOPSCC can improve the specificity of HR-HPV detection.
2.Advances in thyroid cytopathology in China over the last ten years: retrospect and prospect
Chinese Journal of Pathology 2025;54(6):575-579
Over the last ten years, China has made significant breakthroughs in the construction of a standardized diagnosis and treatment system and technological innovation in thyroid tumor cytology. In terms of diagnostic techniques, a standardized process combining manual smears and liquid-based cytology has been established. The combination of hematoxylin-eosin staining and cell block technology has significantly improved diagnostic accuracy, while immunocytochemical staining plays an important role in the differential diagnosis of difficult cases. The molecular pathology detection system has achieved leapfrog development, evolving from single-gene BRAF detection to a multi-gene panel covering BRAF, TERT and RAS genes. The application of next-generation sequencing and other new technologies has significantly improved preoperative diagnostic efficacy. The publication of the "Expert consensus on the cytopathological diagnosis of thyroid-fine needle aspiration (version 2023)" has further promoted the standardization of thyroid cytology diagnosis in China. Meanwhile, Chinese scholars have made breakthroughs in the field of medical artificial intelligence. A self-developed deep learning model was published in The Lancet Digital Health, achieving a diagnostic accuracy of 96.8% in differentiating benign and malignant thyroid nodules. A series of high-impact research results published in journals such as the Chinese Journal of Pathology marks China′s entry into the international forefront in this field.
3.Update of molecular pathology in cartilage tumors
Yanli LUO ; Likun ZHANG ; Zhiyan LIU
Chinese Journal of Pathology 2025;54(6):562-567
Cartilage tumors are a group of mesenchymal neoplasms characterized by tumor cells that produce cartilage matrix.The molecular pathology of cartilage tumors, as outlined in the 5th edition WHO classification, has been significantly updated.Key updates include: isocitrate dehydrogenase 1/2 mutations in enchondoma and chondrosarcoma, H3F3B mutations in chondroblastoma, NCOA2 rearrangements in mesenchymal chondrosarcoma, and GRM1 gene fusion and promoter replacement are associated with chondromyxoid fibroma, etc.Since these molecular abnormalities serve as specific diagnostic and differential diagnostic markers, this article focuses on recent advances in the molecular characterization of cartilage tumors.
4.Interpretation of the soft tissue specific tumors in the 5th WHO classification of pediatric tumors
Shudi ZHANG ; Lejian HE ; Lian CHEN
Chinese Journal of Pathology 2025;54(6):568-574
The latest published WHO Classification of Pediatric Tumors is the first to be independent of the WHO Classification of Tumors in adults, serving as an independent volume that covers the latest advances in clinical characteristics, histopathology, molecular pathology, pathogenesis, and treatment of multiple systems, multiple types of pediatric tumors. Among them, soft tissue tumors have been updated based on the Edition Ⅴ of WHO Classification of Tumors of Soft Tissue and Bone, and some molecularly defined pediatric soft tissue tumors have been emphasized. This article, based on literature, mainly interprets the specific types of tumors that occur exclusively in children in the WHO Classification of Pediatric Tumors of Soft Tissue.
5.Clinical and cytological characteristics of primary thyroid lymphoma: a fine needle aspiration study of 10 cases
Lan CHEN ; Zhouying LIU ; Jinsong ZHANG
Chinese Journal of Pathology 2025;54(6):618-625
Objective:To evaluate the cytological features of primary thyroid lymphoma diagnosed by fine needle aspiration (FNA), using histology as the gold standard.Methods:FNA samples from the 10 cases of primary thyroid lymphoma diagnosed between October 2016 and November 2024 at the Department of Pathology, Beijing Hospital were analyzed. Clinical data were retrospectively reviewed. The smears, cell block slides, immunochemical and histological findings were examined.Results:Among the 10 patients, there were 2 males and 8 females. The median age was 72 (range, 70 to 76) years. Six patients showed rapid enlargement of new or existing tumors within a short period of time (1-2 months). The median diameter of the lesions was 5.0 (range, 4.5 to 5.3) cm. Thyroid FNA samples showed diffuse dysplastic lymphocytoid cells. Diffuse large B-cell lymphoma (DLBCL) was composed of highly consistent and dysplastic lymphocytoid cells with significant nuclear enlargement, obvious nucleoli, frequent mitoses and karyorrhexis, while indolent lymphomas were composed of mixed and mild atypical lymphocytoid cells with various cell sizes, small nucleoli, infrequent mitosis and karyorrhexis. A small number of thyroid follicular cells with eosinophilic alteration were also present. Immunochemistry on smear indicated a predominant B-cell population with Ki-67 index of 5% to 90%. All patients underwent core needle biopsy or resection except one case that only had cell block preparation. The final pathological diagnoses included 5 cases of DLBCL, 3 cases of extranodal marginal zone lymphoma of mucosa associated lymphoid tissue, 1 case of follicular lymphoma (grade 3b) with transformation of diffuse large B-cell lymphoma, and 1 case of chronic lymphocytic leukemia/small lymphocytic lymphoma with concurrent thyroid papillary carcinoma. Six patients had concurrent Hashimoto′s thyroiditis.Conclusions:Primary thyroid lymphoma is rare, almost all of them are B-cell origin, and it often presents with rapid enlargement of neck masses. Aggressive lymphoma has prominent cell atypia and can be diagnosed by FNA. For indolent lymphoma, although the cell atypia is mild, there are still cytological characteristics of lymphoma. Therefore, FNA can be used to diagnose hematopoietic and lymphoid malignancies when combined with thyroid diffuse lesion on imaging and the clinical history of rapid growth in a short period of time. An accurate classification generally requires biopsy and molecular clonality examination.
6.Pediatric cardiac allograft transplantation: a clinicopathological study of twelve recipient hearts
Hongxia LI ; Ran AN ; Jing LI ; Xiaoli XIE ; Hua JIN ; Qianru LI ; Gengxu ZHOU ; Aijun LIU
Chinese Journal of Pathology 2025;54(1):46-51
Objective:To analyze the morphologic changes and the extent of severity in end-stage heart disease; and to explore the correlation with their clinical features.Methods:Twelve cases of recipients who underwent pediatric cardiac allograft transplantation were collected from May 2022 to November 2023 at the Seventh Medical Center of People′s Liberation Army of China General Hospital. Gross pathologic examinations were performed and morphological changes were observed under a light microscope after HE, Masson′s trichrome, and reticulin staining. Semi-quantitative analysis of morphologic changes was performed. One case received DMD genetic testing, one received mtDNA variation testing for mitochondriopathy, and 1 received metagenomics next-generation sequencing. Clinical data and related literature were reviewed for comprehensive analysis.Results:There were 12 recipient hearts including 11 dilated cardiomyopathy (DCM) and 1 fulminant myocarditis (FM). The median age of DCM was 12 years (range, 3 to 15 years). DCM showed cardiomyocyte hypertrophy, cardiomyocyte disarray, nuclear morphological changes, interstitial fibrosis and fatty infiltration. One DCM was confirmed as Becker muscular dystrophy by DMD genetic testing. No pathogenic mutations were found in 1 patient that received mtDNA variation testing. H. influenzae was detected in the case of FM. FM showed diffuse and full-thickness inflammatory cell infiltration by large numbers of lymphocytes and plasma cells, scattered eosinophils, and few neutrophils.Conclusions:Cardiac transplantation is an excellent treatment for end-stage heart disease. The morphological features of DCM include cardiomyocyte hypertrophy, nuclear morphological changes, interstitial fibrosis and fatty infiltration. The severity of the lesion is influenced by multiple factors. FM predominantly presents diffuse infiltration of lymphocytes and plasma cells.
7.Pathological diagnosis of solid pancreatic lesions with endoscopic ultrasound-guided fine needle aspiration: a series study of 311 cases
Xiaoxiao WEN ; Xiaoyi LIU ; Jinfeng CUI ; Lichao ZHANG ; Wenxuan LIU ; Haiyan YANG ; Yuan WANG ; Li YI ; Lei LOU ; Juan WANG ; Yuehong LI ; Wenxin WU ; Xianghong ZHANG
Chinese Journal of Pathology 2025;54(1):52-58
Objective:To investigate the combined application of cytology, cell block histology and immunohistochemistry to improve the diagnostic accuracy of solid pancreatic lesions in endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) samples.Methods:The pathological data of EUS-FNA in 311 cases of solid pancreatic lesions submitted to the Second Hospital of Hebei Medical University, Shijiazhuang, China from May 2019 to September 2023 were retrospectively analyzed. The cases included pancreatic ductal adenocarcinoma (PDAC, 172 cases), solid pseudopapillary neoplasm (SPN, 12 cases), neuroendocrine tumors (PNET, 14 cases) and chronic pancreatitis (113 cases). The cytological features of smears, the histology of cell block sections and the diagnostic markers in PDAC, SPN and PNET were analyzed. The diagnostic accuracies of cytology, cell block histology/immunohistochemistry and combination of the two methods for classifying these pancreatic solid lesions were evaluated.Results:Irregular arrangement of atypical (cancer) cells, anisonucleosis and nuclear atypia were the typical cytological features of PDAC, while presence of pseudopapillae with a myxoid/hyalinized fibrovascular core and low adhesion/salt-and-pepper chromatin were diagnostic features of SPN and NET, respectively. Immunohistochemical results showed that CK7 and CK19 were the most sensitive markers of pancreatic ductal epithelia, and the diffuse strong expression of S-100P (102/111, 91.9%) and aberrant expression of p53 (80/111, 72.1%) were important immunophenotypic markers of PDAC. Various degrees of CDX2 expression could be found in 66.4% PDAC. The expression of CD10, PR, vimentin, CD99 and cyclinD1 and the aberrant expression of β-catenin were the immunophenotypic features of SPN, while the expression of CgA, Syn and CD56 were indispensable immunemarkers for the diagnosis of PNET. Overall, cytology had higher sensitivity than cell block histology (93.9% versus 82.8%) and lower specificity (92.9% versus 99.1%), while the combination of the two methods significantly improved the sensitivity to 96.9% in solid pancreatic lesions. The combination of cytology and cell block histology could significantly improve the diagnostic efficacy of EUS-FNA in PDAC.Conclusions:Integrated diagnosis based on cytology (including rapid on-site evaluation), cell block histology and immunohistochemical findings could significantly improve the diagnostic yield of EUS-FNA in classifying solid pancreatic lesions.
8.Value of the deep learning automated quantification of tumor-stroma ratio in predicting efficacy and prognosis of neoadjuvant therapy for breast cancer based on residual cancer burden grading
Ting XIE ; Aoling HUANG ; Lingyan XIANG ; Haochen XUE ; Zhengzhuo CHEN ; Aolong MA ; Honglin YAN ; Jingping YUAN
Chinese Journal of Pathology 2025;54(1):59-65
Objective:To investigate the prognostic value of deep learning-based automated quantification of tumor-stroma ratio (TSR) in patients undergoing neoadjuvant therapy (NAT) for breast cancer.Methods:Specimens were collected from 209 breast cancer patients who received NAT at Renmin Hospital of Wuhan University from October 2019 to June 2023. TSR levels in pre-NAT biopsy specimens were automatically computed using a deep learning algorithm and categorized into low stroma (TSR≤30%), intermediate stroma (TSR 30% to ≤60%), and high stroma (TSR>60%) groups. Residual cancer burden (RCB) grading of post-NAT surgical specimens was determined to compare the relationship between TSR expression levels and RCB grades. The correlation of TSR with NAT efficacy was analyzed, and the association between TSR expression and patient prognosis was further investigated.Results:There were 85 cases with low stroma (TSR≤30%), 93 cases with intermediate stroma (TSR 30% to ≤60%), and 31 cases with high stroma (TSR>60%). Different TSR expression levels showed significant differences between various RCB grades ( P<0.05). Logistic univariate and multivariate analyses showed that TSR was a risk factor for obtaining a complete pathological remission from neoadjuvant therapy for breast cancer when it was used as a continuous variable ( P<0.05); COX regression and survival analyses showed that the lower the percentage of tumorigenic mesenchyme was, the better the prognosis of the patient was ( P<0.05). Conclusions:The deep learning-based model enables automatic and accurate quantification of TSR. A lower pre-treatment tumoral stroma is associated with a lower RCB score and a higher rate of pathologic complete response, indicating that TSR can predict the efficacy of neoadjuvant therapy in breast cancer and thus holds prognostic significance. Therefore, TSR may serve as a biomarker for predicting therapeutic outcomes in breast cancer neoadjuvant therapy.
9.Advances in the pathology of digestive system diseases in China over the past ten years: retrospect and prospect
Yuan LIN ; Jinghuan LYU ; Hongxue MENG ; Wei SANG ; Xueqin TAO ; Weixun ZHOU
Chinese Journal of Pathology 2025;54(2):103-108
The incidence of digestive system diseases is high. So digestive system pathology is widely concerned. In the past 10 years, Chinese pathologists insist on hard work and have made significant progress. This article reviews the research and practice progress in digestive system tumors and non-tumors in the past 10 years, including the establishment of diagnostic criteria for gastrointestinal tract, hepatobiliary and pancreatic diseases, the establishment and classification of new diseases with special morphology, the classification and standard update of gastrointestinal and pancreatic neuroendocrine tumors, the progress of molecular pathology, and non-tumor lesions of the digestive system. The future development trend of digestive system pathology is also prospected.
10.Experience on the factors affecting the accuracy of early gastrointestinal cancer pathological diagnosis
Chinese Journal of Clinical and Experimental Pathology 2025;41(3):281-284
The precision of pathological diagnosis for early gastrointestinal cancer is a critical determinant in the diagnosis and treatment of this condition.Several factors influence diagnostic precision.Based on clinical experience,the author highlights key aspects that require special attention in routine pathological diagnosis,including the standard-ized completion of pathological application forms,the representativeness and adequacy of biopsy,appropriate specimen handling,and pathologists'proficiency in the diagnostic criteria for early gastrointestinal cancer.Achieving precise pathological diagnosis of early gastrointestinal cancer necessitates adherence to the"full chain"approach,with close collaboration between endoscopists and pathologists at all stages of diagnosis and treatment,ultimately ensuring precise patient management.

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