Zhonghua Bing Li Xue Za Zhi Chinese Journal Of Pathology[JOURNAL]
Sun
200 papers
[Clinicopathological characteristics and molecular genetic features of malignant epithelioid neoplasm with EWSR1/FUS-CREB fusions in thorax of two cases].
Zhang YY, Liao P, Zheng Q … +3 more , Wu JH, Li Y, Nie X
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956749 · Publisher ↗
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[Expression levels of CSPG4 and SFRP1 in esophageal basaloid squamous cell carcinoma and their value in differential diagnosis].
Xiao YH, Jiang DX, Yu ZX … +7 more , Yuan W, Huang J, Song Q, Zhang XL, Su JAKS, Xu C, Hou YY
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956748 · Publisher ↗
To investigate the diagnostic and prognostic value of CSPG4 and SFRP1 expression in esophageal basaloid squamous cell carcinoma (EBSCC). EBSCC cases in pathological diagnostic reports from Zhongshan Hospital, Fudan Univ...
To investigate the diagnostic and prognostic value of CSPG4 and SFRP1 expression in esophageal basaloid squamous cell carcinoma (EBSCC). EBSCC cases in pathological diagnostic reports from Zhongshan Hospital, Fudan University from 2001 to 2023 were collected. Three senior pathologists independently reviewed the slides, and 81 cases of EBSCC and 55 conventional esophageal squamous cell carcinomas (ESCC) with consistent diagnoses were collected. Immunohistochemical staining for CSPG4 and SFRP1 was performed. The sensitivity and specificity of CSPG4 and SFRP1 expression in diagnosing EBSCC, as well as their correlation with prognosis, were analyzed. Among the 81 EBSCC and 55 conventional ESCC cases, there were no significant differences in patient gender, age, or surgical resection time (>0.05). The expression levels of CSPG4 and SFRP1 were significantly higher in EBSCC than in conventional ESCC (<0.001), with no significant differences across different invasive layers (>0.05). The receiver operating characteristic (ROC) curve for CSPG4 had an area under the curve (AUC) value of 0.952, with an optimal H-score cutoff of 75, showing a sensitivity of 92.6% and a specificity of 89.1% for diagnosing EBSCC. For SFRP1, the ROC curve had an AUC value of 0.880, with an optimal H-score cutoff of 1.5, showing a sensitivity of 81.5% and a specificity of 94.5%. When combined, CSPG4 and SFRP1 achieved a sensitivity of 80.2% and a specificity of 100% for diagnosing EBSCC. Among the 79 EBSCC cases with follow-up data, 17.7% showed high expression of both CSPG4 and SFRP1, 17.7% showed high CSPG4 but low SFRP1 expression, 13.9% showed low CSPG4 but high SFRP1 expression, and 50.6% showed low expression of both molecules. Compared to patients with low expression of both CSPG4 and SFRP1, those with high CSPG4 and low SFRP1 expression had the worst prognosis (disease-free survival: =0.190; overall survival: =0.031), particularly in stage Ⅰ-Ⅱ patients (disease-free survival: =0.031; overall survival: =0.013). CSPG4 and SFRP1 are primarily expressed in EBSCC. The combined application of immunohistochemical staining for these two markers can serve as a molecular indicator for the differential diagnosis and prognostic prediction of EBSCC.
[Feasibility of identifying POLE-mutated endometrial carcinoma through a pathological features-based scoring system].
Hu AJ, Liu Y, Wang YX … +5 more , Yang J, Song ZX, Zhao XY, Liu LC, Liu CR
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956747 · Publisher ↗
To assess the utility of histopathological and immunohistochemical characteristics in identifying POLE-mutated (POLEmut) endometrial carcinoma (EC). A total of 1 541 EC cases that underwent molecular classification at P...
To assess the utility of histopathological and immunohistochemical characteristics in identifying POLE-mutated (POLEmut) endometrial carcinoma (EC). A total of 1 541 EC cases that underwent molecular classification at Peking University Third Hospital from January 2018 to December 2024 were included. Cases were categorized into POLEmut and non-POLEmut groups (including p53-abnormal, mismatch repair-deficient, and no specific molecular profile subtypes). A comparative analysis of histopathological features, mismatch repair (MMR) protein expression, and p53 immunostaining patterns was performed. A multivariable logistic regression-derived prediction model for POLEmut status was developed and internally validated. POLEmut tumors showed significantly higher frequencies of prominent peritumoral lymphocytes (PTLs) and tumor-infiltrating lymphocytes (TILs), high-grade nuclei, bizarre nuclei, clear cytoplasm, and ambiguous morphology compared with non-POLEmut tumors (all <0.05). Multivariable analysis identified severe PTLs/TILs infiltration, high-grade nuclei, ambiguous morphology, and clear cytoplasm as independent positive correlates for POLE mutation status, while aberrant p53 expression and MMR protein loss were negative correlates. The scoring system showed robust discrimination, with an area under the curve (AUC) of 0.867 in the training set (=1 319) and 0.873 in the test set (=222). At the ≥3- point cutoff, it provided a sensitivity of 80.8%, specificity of 66.3%, and negative predictive value (NPV) of 96.3% in the test set. Calibration analysis indicated good overall performance (Brier score=0.045), though local miscalibration was observed in intermediate-and low-risk subgroups. This POLEmut scoring system achieves high sensitivity and high NPV for initial screening of POLEmut EC. Despite a relatively low positive predictive value requiring confirmatory sequencing, it effectively enriches candidates needing POLE gene sequencing in resource-limited settings. Future multicenter validation is warranted to assess its clinical utility.
[Fibrodysplasia ossificans progressive: a clinicopathological and molecular genetic analysis of three cases].
Meng ZQ, Zhao ZH, Liu EJ … +4 more , Yang ML, Zhu X, Li SL, Li WC
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956746 · Publisher ↗
To investigate the clinicopathological and molecular genetic characteristics of fibrodysplasia ossificans progressiva (FOP). Three cases of FOP were collected in the First Affiliated Hospital of Zhengzhou University fro...
To investigate the clinicopathological and molecular genetic characteristics of fibrodysplasia ossificans progressiva (FOP). Three cases of FOP were collected in the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2024. The clinicopathological characteristics were reviewed. Immunohistochemistry and DNA-based NGS were performed. The cohort included two males and one female, with ages of 1, 11, and 11 years, respectively. All patients presented with multiple soft tissue masses in the trunk and hallux valgus deformity. Due to clinical suspicion of malignancy, biopsies were performed in all three cases, and one patient subsequently underwent excision. Histologically, biopsy specimens revealed spindle cell proliferation within a myxoid and collagenous background, infiltrating skeletal muscle fibers, accompanied by thin-walled blood vessels and minimal inflammatory infiltrates. Multifocal ossification was observed in the excised specimen. Immunohistochemically, the spindle cells were positive for SMA (3/3), and negative for desmin (3/3), S-100 (3/3), CD34 (3/3), and MUC4 (1/1). AB-PAS staining revealed extensive mucin deposition in the stroma (2/2). Next-generation sequencing (NGS) identified the ACVR1 R206H mutation in all three cases. Early-stage FOP exhibits distinct histological features, with congenital hallux deformity serving as a crucial diagnostic clue. Molecular testing for ACVR1 mutations facilitates early disease diagnosis.
[PTCH1 promotes epithelial mesenchymal transition and epithelial cell proliferation in the pathogenesis of chronic sinusitis with nasal polyps].
Xu MK, Rong LL, Wang YK … +6 more , Li Q, Wang YJ, Zhao HY, Zhang L, Liang XL, Lu J
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956745 · Publisher ↗
To investigate the role of PTCH1 in epithelial-mesenchymal transition (EMT) and the development of chronic sinusitis with nasal polyps (CRSwNP). A total of 240 nasal polyps from CRSwNP patients were collected as experim...
To investigate the role of PTCH1 in epithelial-mesenchymal transition (EMT) and the development of chronic sinusitis with nasal polyps (CRSwNP). A total of 240 nasal polyps from CRSwNP patients were collected as experimental group, while nasal mucosa tissues from 30 patients with deviated nasal septum were collected as control group. They were all diagnosed at Beijing Chaoyang Hospital, Beijing, China from 2015 to 2023. Fifty-two CRSwNP samples were subjected to targeted next-generation sequencing. The effect of PTCH1 on the proliferation of nasal mucosal epithelial cells was detected using cell culture and the CCK8 assay. The expression of PTCH1, EMT markers (including E-cadherin, vimentin, and SMA) and the EMT-related transcription factor Snail/Slug were assessed using immunohistochemical staining. Among the 240 cases of CRSwNP, 179 were male and 61 were female, with an average age of 49 (18, 72) years. Among the 30 cases of deviated nasal septum, 19 were male and 11 were female, age 42 (19, 75) years old. Targeted next-generation sequencing revealed that the mutation rate of PTCH1 in CRSwNP was 7.7% (4/52),which was significantly higher than the mutation frequency of less than 1% in the database of normal individuals. Cell culture and CCK8 assay showed that PTCH1 mutation could promote the proliferation of nasal mucosal epithelial cells. Immunohistochemical staining showed that 116 cases(116/240) CRSwNP were moderately to strongly positive for PTCH1, 114 cases (114/240) were weakly positive, and 10 cases (10/240) were negative. Two hundred and one of the 240 cases were weakly positive for E-cadherin, 4 cases (4/240) were moderately positive and 35 cases (35/240) were negative. Vimentin, SMA, Snail and Slug all showed various degrees of positive expression. Meanwhile, expression of PTCH1 was elevated in CRSwNP and correlated with the expression of Snail/Slug (=0.776, <0.01; =0.767, <0.01, respectively). PTCH1 mutation is an important genetic variant in CRSwNP. PTCH1 mutation activates the Hedgehog signaling pathway and promotes the EMT process by upregulating the expression of the transcription factor Snail/Slug, while PTCH1 mutation also directly promotes the proliferation of nasal mucosal epithelial cell. Both processes/pathways are involved in the development of CRSwNP and have the potential to become the targets for the future clinical therapy of CRSwNP.
[Clear cell adenocarcinoma of the urinary tract: a clinicopathological analysis of nine cases].
Zeng WR, Xu AW, Cheng ZL … +2 more , Yong JJ, Li Z
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956744 · Publisher ↗
To study the clinicopathological features and key differential diagnosis of clear cell adenocarcinoma (CCA) of the urinary tract. A retrospective analysis was performed on the clinicopathological data, immunophenotypes,...
To study the clinicopathological features and key differential diagnosis of clear cell adenocarcinoma (CCA) of the urinary tract. A retrospective analysis was performed on the clinicopathological data, immunophenotypes, and molecular test results of patients with pathologically confirmed primary CCA of the urinary tract at Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China from December 2015 to September 2024. This study was supplemented by a review of the relevant literature. Nine patients were included (1 male and 8 females), age 57.0 (44.5, 61.0) years old. The main symptoms were urinary tract irritation and hematuria. Th lesions were in the urethra of 5 patients and in the bladder in 4 patients. Macroscopically, the tumors were cauliflower-like, with edema and firm consistency. Microscopically, they showed mostly papillary/tubular-cystic structures, with solid sheet-like arrangements. The tumor cells showed clear or eosinophilic cytoplasm, moderate to high nuclear grade, prominent nucleoli, and frequent mitotic figures. The tumor cells also exhibited strong expression of PAX8, CK7, and HNF1-β, various positivity of Napsin A and P504s, and partial expression of SOX17, CK20, and GATA3. The Ki-67 index ranged from 30% to 70%, and p53 showed a heterogeneous expression pattern. The cells were negative for p63 and the renal cell carcinoma marker (RCC). Among the 7 cases subject to urine fluorescence in situ hybridization (FISH) testing, 5 cases showed abnormal centromeric signals. One case underwent next-generation sequencing (DNA-seq) and harbored a nonsense ARID1A mutation. Two patients underwent radical surgery, 3 total urethrectomy, and 4 palliative surgery. Four patients received postoperative chemotherapy. The follow-up ranged from 9 to 58 months: 3 patients had tumor recurrence while 2 died. CCA of the urinary tract is a rare and aggressive malignancy. Its histological morphology resembles that of ovarian CCA. The diagnosis should be based on a combination of morphological features and immunophenotype. It is recommended to use PAX8, CK7, HNF1-β, and Napsin A as a core immunohistochemical panel, while testing SOX17 can also help.
[Clinicopathological features of TSC/mTOR mutation-associated renal cell carcinoma with leiomyomatous stroma: report of nine cases].
Han MH, Chu J, Wang Y … +6 more , Guo ZH, Liu Y, Yu WJ, Li YJ, Zhang W, Jiang YX
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956743 · Publisher ↗
To study the clinicopathological features, immunophenotype, diagnosis, and prognosis of TSC/mTOR mutation-associated renal cell carcinoma with leiomyomatous stroma (M/TSC-RCC-LMS). Nine cases of molecularly confirmed M/...
To study the clinicopathological features, immunophenotype, diagnosis, and prognosis of TSC/mTOR mutation-associated renal cell carcinoma with leiomyomatous stroma (M/TSC-RCC-LMS). Nine cases of molecularly confirmed M/TSC-RCC-LMS were collected at the Affiliated Hospital of Qingdao University (7 cases) and No. 971 Hospital of the People's Liberation Army, Qingdao, China (2 cases) between December 2011 and August 2024. Histological evaluation, immunohistochemical staining, and molecular analysis were performed, along with literature review. Among the 9 patients, 1 was male and 8 were female, with their ages 48(35,55) years. Eight cases were detected during routine physical examinations, while 1 case presented with painless gross hematuria. All 9 cases were located within the renal parenchyma, presenting nodular masses with tumor diameters 2.0(1.4,2/7) cm. The lesions were well-circumscribed. The tumors were solid, grayish-white, grayish-yellow or grayish-red in color, and soft in consistency, while one case showed cystic-solid characteristics. All 9 cases exhibited thick fibromuscular pseudocapsules. In 8 cases, smooth muscle components within the capsule were observed extending into the tumor, dividing the neoplastic tissue into nodular and clustered patterns. The tumor cells were primarily arranged in tortuous, elongated branching tubular structures, with focal areas showing small amounts of delicate papillary structures containing fibrovascular cores. They also had abundant cytoplasm that was pale-staining or mildly eosinophilic, occasionally clear. The nuclei were round or irregular in shape, with some showing conspicuous nucleoli. All the 9 cases showed patchy to diffusely strong expression of CK7 (70%-100%). Carbonic anhydrase Ⅸ (CAⅨ, 6/9) and CD10 (membranous positivity, 8/9) demonstrated variable extent and intensity of expression. Glycoprotein nonmetastatic melanoma protein B (GPNMB) showed diffusely moderate to strong positivity in 7 of the 9 cases. The 9 cases were all negative for α-methylacyl-CoA racemase (AMACR), TFE3, TFEB, TCEB1, HMB45, and Melan A, with Ki-67 proliferative index ranging from 1% to 10%. Whole exome sequencing revealed mTOR gene mutations in 5 cases, concurrent TSC2 and mTOR mutations in 1 case, a TSC2 mutation in 1 case, and germline TSC1 mutations in 2 cases. Follow-up of the cases ranged from 6 to 159 months. All patients were alive at the end of the follow-up, with no recurrence or metastasis. M/TSC-RCC-LMS exhibits unique morphological and immunophenotypic characteristics. The tumor cells exhibit abundant pale or mildly eosinophilic cytoplasm, forming elongated, tortuous branching tubules accompanied by stromal smooth muscle components. These are typically morphological features of this renal cell carcinoma subtype. The contribute to the diagnosis and differential diagnosis of the tumor diffusely strong positivity of CK7 and the positivity of GPNMB. This type of renal cell carcinoma often demonstrates indolent biological behaviors with favorable prognosis and is expected to be newly classified as an independent subtype of renal cell carcinoma.
[Moderate to high-risk primary malignant solitary fibrous tumor of the kidney: a clinicopathological and molecular analysis of five cases].
Zhang HZ, Xu JK, Yu Y … +1 more , Yang XQ
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956742 · Publisher ↗
To explore the clinicopathological features, immunophenotype, molecular characteristics, and prognosis of primary malignant solitary fibrous tumor (MSFT) of the kidney. The clinicopathological data of four renal MSFT ca...
To explore the clinicopathological features, immunophenotype, molecular characteristics, and prognosis of primary malignant solitary fibrous tumor (MSFT) of the kidney. The clinicopathological data of four renal MSFT cases diagnosed at the Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China and one case at the Ningbo Clinical Pathology Diagnostic Center, Ningbo, China between 2015 and 2025 were collected. The clinical features, histomorphology, and immunohistochemical characteristics were analyzed. Fluorescence in situ hybridization (FISH) and RNA-based next-generation sequencing were performed. Follow-up and review of relevant literature were conducted. Among the five patients, three were male and two were female, aged 70(61,71) years. The tumors were all found during routine physical examinations. Four cases (cases 1, 3, 4, and 5) occurred in the left kidney, and one case (case 2) first occurred in the left kidney and recurred in the right kidney 5 years later. Four cases had a single lesion with a maximum diameter of 6.0-19.0 cm, and one case (case 5) had 2 lesions with maximum diameters of 2.0 cm and 4.0 cm, respectively. Histologically, three cases (cases 1, 2, and 5) were de novo MSFT, one case (case 5) was morphologically similar to synovial sarcoma with spindle cells arranged densely in bundles, one case (case 1) had sheets of epithelioid tumor cells, and one case (case 2) had alternating myxoid and spindle cell areas, with sparse tumor cells in the myxoid areas and dense tumor cells in the spindle cell areas. Two cases (cases 3 and 4) were classic solitary fibrous tumor (SFT) with dedifferentiation, and the dedifferentiated components were high-grade undifferentiated sarcoma. In the typical SFT areas, tumor cells were alternately dense and sparse, with collagenized areas and rare mitotic figures, while branching or hemangiopericytoma-like structures were also present. In the dedifferentiated areas, tumor cells were spindle-shaped or epithelioid with conspicuous nucleoli. Necrosis was seen in all three de novo MSFT cases (cases 1, 2, and 5) and one dedifferentiated case (case 4). The mitotic figures in three de novo SFT cases and two dedifferentiated areas were 4 to 10 per 10 HPF. No heterologous differentiation was found in any of the five cases. According to the Demicco risk classification, four cases were of moderate risk, and one case (case 4) was of high risk. Four cases showed diffuse expression of STAT6, while one case (case 3) showed partial expression. CD34 was diffusely positive in 3 cases, partially positive in one case (case 4) and negative in one case (case 1). Only one of the 5 cases expressed CKpan which was focally positive. PAX8, desmin, BCOR, S-100 protein, Melan A and HMB45 were all negative. H3k27Me3 expression was retained. FISH showed no SYT (SS18, 18q11) rearrangements in two cases (cases 4 and 5), and no MDM2 amplification in one case (case 5). RNA sequencing in four cases detected NAB2::STAT6 gene fusion, all of which were NAB2ex6::STAT6ex16 fusion subtypes. Follow-up data were available for four cases, with the follow-up period of 11-30 months. Among the 4 cases, one case had liver metastasis 3 months after surgery, and one case of left renal MSFT (moderate risk) had right renal recurrence 5 years after surgery. The other two had no recurrence or metastasis. Renal MSFT with moderate to high-risk is rare, shows a wide morphological spectrum and needs to be differentiated from various tumors. Extensive sampling, careful morphological observation, immunohistochemical staining and molecular detection of NAB2::STAT6 fusion are helpful for the diagnosis. It appears to have aggressive biological behaviors.
[Navigating pathological assessment of neoadjuvant hormonal therapy for prostate cancer: from clinical challenges to future directions].
Wang XL, Hu J, Han B
Zhonghua Bing Li Xue Za Zhi · 2026 Apr · PMID 41956741 · Publisher ↗
Neoadjuvant therapy has become one of the standard treatment modalities for various solid tumors. Accurate assessment of pathological response after neoadjuvant therapy is crucial to the guidance of subsequent treatment...
Neoadjuvant therapy has become one of the standard treatment modalities for various solid tumors. Accurate assessment of pathological response after neoadjuvant therapy is crucial to the guidance of subsequent treatment strategies and the determination of patient prognosis. Currently, expert consensus on pathological evaluation of neoadjuvant therapy efficacy has been well-established for tumors such as breast cancer and non-small cell lung cancer. However, the significant heterogeneity and multifocality of prostate cancer pose unique obstacles to establishing a standardized system for the pathological assessment for neoadjuvant hormonal therapy (NHT), The current status and challenges of pathological assessment for NHT response in prostate cancer are reviewed in this article, and the clinical value of predictive biomarkers is explored. The overarching goals are the optimize of patient stratification and the advance of precision medicine for prostate cancer.
[Clinical application of PI3K/AKT/mTOR pathway testing in breast cancer].
Sun ML, Chen YQ, Cao SY … +7 more , Shen MJ, Yin LJ, Zhong XR, Luo T, Ding CX, Ye F, Bu H
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795996 · Publisher ↗
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[Progression from primary cutaneous CD4+small/medium-sized T-cell lymphoproliferative disorder to peripheral T-cell lymphoma, not otherwise specified: report of a case].
Zhang L, He RL, Xi M … +5 more , Han P, Hu WW, Tang ZH, Chen XH, Chen J
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795995 · Publisher ↗
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[Myoepithelial tumor of soft tissue with EWSR1::KLF17 fusion: report of a case].
Hu M, Fang N
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795994 · Publisher ↗
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[Primary SMARCA4-deficient triple-negative breast cancer: report of a case].
Chang B, Chen YQ, Yan HR … +5 more , Liang TY, Lu MJ, Liu K, Meng J, Han ZH
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795993 · Publisher ↗
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[Value of quantitative p53 IHC in predicting TP53 mutation status: a study in lung adenocarcinoma].
Fan TL, Liu QY, Li CX … +6 more , Wang LH, Ding YZ, Lu LF, Liu LN, Yan JY, Cang SD
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795992 · Publisher ↗
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[Primary pulmonary epithelioid hemangioendothelioma: a clinicopathological analysis of 40 cases].
Wang TL, Gao XZ, Han J … +2 more , Fan XY, Li SL
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795991 · Publisher ↗
To investigate the clinicopathological features of primary pulmonary epithelioid hemangioendothelioma (PEHE). Forty cases of PEHE were diagnosed from October 2010 to June 2024 at the First Affiliated Hospital of Zhengzh...
To investigate the clinicopathological features of primary pulmonary epithelioid hemangioendothelioma (PEHE). Forty cases of PEHE were diagnosed from October 2010 to June 2024 at the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. A retrospective analysis was conducted on their histological features, imaging findings, immunohistochemical characteristics and molecular phenotypes. Subsequently, the clinicopathological features were summarized. The patients were followed up. Of the 40 cases, there were 19 males and 21 females, age 52.5 (43.0, 62.0) years old. Most patients were admitted for respiratory symptoms, mainly cough (25/40) and expectoration (14/40). Computed tomography findings mainly showed multiple intrapulmonary nodules (33/40) and solitary nodules in 7 cases (7/40). Tumor maximum diameters ranged from 3 to 70 mm, with a median of 19 (12, 35) mm. Grossly, all lesions appeared as grayish-white nodules with ill-defined margins and mucoid cut surfaces. Microscopically, tumor cells showed centrifugal distribution around blood vessels, arranged in irregular nests; local mucoid degeneration and chondroid matrix were noted. Intracytoplasmic vacuoles with red blood cells were noted in some tumor cells, indicating primitive vascular lumen differentiation. At the molecular level, WWTR1-CAMTA1 gene fusion was identified in 36 cases and YAP1-TFE3 fusion in 4 cases. Immunohistochemical results showed diffuse positivity for CD31 (38/38), CD34 (36/40), ERG (40/40) and Fli-1 (40/40), and focal positivity for TFE-3 (4/34). Therapeutic responses of 40 patients were assessed using the Response Evaluation Criteria in Solid Tumors criteria: complete response in 4 cases (10.0%), partial response in 5 (12.5%), stable disease in 7 (17.5%), and progressive disease in 24 (60.0%). PEHE is a rare vascular-derived tumor, radiologically characterized by multiple bilateral pulmonary nodules. It has non-specific clinical manifestations; combined use of highly sensitive and specific endothelial markers and genetic testing helps reach the definitive diagnosis. PEHE has an overall indolent course, with long-term survival in some patients. However, multiple lesions, pleural invasion, and distant metastasis may be linked to worse prognoses.
[Risk predication for metastasis and grading system in complex adrenal pheochromocytoma and paraganglioma].
Wang LL, Yang SM, Wei XJ … +5 more , Song LX, Zhang QC, Zhao JM, Cheng M, Li F
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795990 · Publisher ↗
To score pheochromocytoma and paraganglioma (PPGL) by using the composite pheochromocytoma and paraganglioma grading system (COPPS), to analyze the correlations of COPPS, the pheochromocytoma of the adrenal gland scaled...
To score pheochromocytoma and paraganglioma (PPGL) by using the composite pheochromocytoma and paraganglioma grading system (COPPS), to analyze the correlations of COPPS, the pheochromocytoma of the adrenal gland scaled score (PASS), and the grading system for adrenal pheochromocytoma and paraganglioma (GAPP) with tumor metastasis or recurrence and to explore the relationship between gene mutations and metastasis or recurrence in some PPGL. Clinicopathological data of the 186 paragangliomas diagnosed from January 2012 to December 2022 at Beijing Friendship Hospital, Beijing, China, the Peking University Third Hospital, Beijing, China, and the First Affiliated Hospital of Shihezi University, Shihezi, China were collected and analyzed. Predictive values of the three systems for tumor metastasis or recurrence were evaluated. Immunohistochemistry was performed using the EnVision staining method. Whole-exome sequencing was used to detect gene mutations in 15 tumors. Among the 186 PPGL patients, there were 93 females and 93 males, age 49 (47, 50) years old. Metastasis or recurrence occurred in 60 cases. 34 of the tumors were located in the retroperitoneum. The maximum tumor diameter was >7 cm in 42 cases. A COPPS score ≥3 was observed in 97 cases (52.2%, 97/186), among whom 53 cases (54.6%, 53/97) experienced metastasis or recurrence. The metastasis/recurrence rate in the COPPS score≥3 group was significantly higher than that in the <3 group (=46.469,<0.001). Tumor location in the retroperitoneum, presence of large nests of cells, pathological mitosis, spindle cells, capsular invasion, and fat infiltration were all associated with a COPPS score ≥3 (=18.370, 51.730, 8.914,18.750, 62.481, 19.354, all <0.05). The sensitivity of COPPS for predicting metastasis/recurrence was 88.3% (53/60), while the specificity was 65.1% (82/126). Negative expression of SDHB was observed in 50 cases, and negative expression of S-100 protein was observed in 96 cases. DNA extraction failed to produce qualified DNA in 3 cases; among the remaining 12 tumors that were subject to DNA extraction, 739 mutations (in 658 genes) were detected, including 300 germline mutations (in 265 genes) and 439 somatic mutations (in 408 genes). Related pathogenic germline mutation genes occurred on: SDHA, MDH2, MEN1, EGLN1, RET and SDHB. All 12 patients had more than four pathogenic germline mutations. Somatic pathogenic mutation genes included ATRX, KIF1B, EPAS1, HRAS, NF1, and MAML3. A higher COPPS score (≥3 versus <3) is associated with a higher metastasis/recurrence rate. Its sensitivity for predicting tumor metastasis/recurrence is higher than that of GAPP, while its specificity is higher than that of PASS. The combined use of negative SDHB and S-100 protein expression with COPPS could be used to stratify the risk of metastasis/recurrence in PPGL.
[Clinicopathological and molecular genetic features of micronodular thymic neoplasms with lymphoid stroma: a study of seventeen cases].
Wang X, Zhu F, Wang H … +3 more , Shi YQ, Sheng SJ, Chen TB
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795989 · Publisher ↗
To investigate the clinicopathological and molecular genetic features of micronodular thymoma (MNT) and micronodular thymic carcinoma (MNC) with lymphoid stroma. Seventeen cases of micronodular neoplasms with lymphoid s...
To investigate the clinicopathological and molecular genetic features of micronodular thymoma (MNT) and micronodular thymic carcinoma (MNC) with lymphoid stroma. Seventeen cases of micronodular neoplasms with lymphoid stroma diagnosed at the Third Affiliated Hospital of Soochow University, Changzhou, China from March 2017 to October 2024 were collected (16 cases of MNT and 1 case of MNC). Their clinicopathological data were reviewed, and their paraffin-embedded sections were stained with immunohistochemistry (IHC). Three cases of MNT and one case of MNC were also examined using next generation sequencing (NGS). Of the 17 patients with MNT or MNC, 7 were male and 10 were female, age 66 (63, 72)years old. Microscopically, tumor cells were scattered in the lymphoid stroma as solid epithelioid nests. The tumor nests were relatively regular in 16 cases, and the tumor cells were mainly short spindle or oval, with bland morphology. Tumor cells of MNC showed marked cytological atypia, conspicuous nucleoli, frequent mitotic figures, and fibrous stroma. IHC showed that tumor cells of all 17 cases diffusely expressed CKpan, CK19 and CK5/6. CD5, CD117 and Glut1 were diffusely positive in the MNC case, but negative in any of the 16 MNT cases. In contrast, there were a considerable number of immature T lymphocytes positive for CD99, TdT and CD1a in the lymphoid stroma around MNT tumor nodules, but not in the MNC. Among the 3 MNT cases subjected to NGS testing, 2 cases had missense mutations in GTF2I (p.L424H), and 1 had missense mutations in HRAS (p.G13V and p.L120P). In the MNC case subjected to NGS testing, gene alterations such as a frameshift mutation in BRCA2 (p.D1451Ifs*12) and a missense mutation in TP53 (p.I195T) were detected, but not GTF2I gene mutations. MNC cells are more atypical than MNT cells. CD5, CD117 and Glut1 are diffusely expressed in MNC, but not in MNT. The genetic alterations in MNC are more diverse than those of MNT, but MNC lacks the characteristic GTF2I mutation of MNT.
[Prognostic stratification value of MLH1 promoter methylation in endometrioid endometrial carcinomas with a dMMR molecular phenotype].
Leng H, Song ZX, Liu Y … +7 more , Wang YX, Yang J, Hu AJ, Wang DD, Zhao XY, Liu LC, Liu CR
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795988 · Publisher ↗
To investigate the prognostic stratification value of MLH1 promoter methylation in a mismatch repair deficiency (dMMR)-type endometrioid endometrial carcinoma (EEC). A total of 338 patients with confirmed diagnosis of d...
To investigate the prognostic stratification value of MLH1 promoter methylation in a mismatch repair deficiency (dMMR)-type endometrioid endometrial carcinoma (EEC). A total of 338 patients with confirmed diagnosis of dMMR EEC at Third Hospital of Peking University Health Science Center, from July 2005 to June 2023 were analyzed. Based on the promoter methylation, they were classified into a dMMR methylated (dMMR MET) group (177 cases) and a dMMR nonmethylated (dMMR nonMET) group (127 cases). Somatic mutations were analyzed by targeted sequencing (196/425-gene panel), and transcriptomic differences were assessed by RNA sequencing (Master panel). We compared the clinicopathological characteristics, gene mutation/expression profiles, and molecular pathway activities systematically between the two groups. Compared with the dMMR nonMET group, patients of the dMMR MET group were older significantly [(56.89±8.85) . (53.76±9.45) years, =0.003] and had tumor size of larger diameters [(3.39±1.78) . (2.71±1.31) cm, =0.014]. The menopausal proportion (66.9% . 48.8%, =0.002) and the proportion with tumor buddings (47.5% . 30.4%, =0.036) were higher. No significant differences were identified in FIGO stage, histologic grade, depth of myometrial invasion, lymphovascular invasion, or rate of lymph node metastasis (>0.05). Mutational profiling revealed that the nonMET group had significantly higher mutation frequencies in CHD4, NF1, SMARCA4, and RET (<0.05). Transcriptomic analysis demonstrated upregulation of immune-related genes (CCL21, CXCL2) in the MET group, and downregulation of epithelial-mesenchymal transition (EMT)-associated genes (SOX2, FOXA1). Both GO and KEGG enrichment analyses of different gene expression in the MET group demonstrated an association with the MAPK pathway. However, Hallmark pathway analysis showed no significant differences in overall pathway activity between the two groups. Survival analysis revealed no significant differences in progression-free survival (=0.206) or overall survival (=0.813) between the groups. The methylation status of the MLH1 promoter has limited value in predicting the prognosis of dMMR EEC. Molecular pathways heterogeneity between the methylated and nonmethylated subgroups suggests the necessity of integrate multi-dimensional indicators to optimize stratification strategies, instead of relying on a single epigenetic marker.
[Correlation of STAT6 and HER2-low expression with clinicopathological features and prognosis in triple negative breast cancer].
Wang YJ, Wang Y, Ren XY
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795987 · Publisher ↗
To investigate the expression of STAT6 and HER2 in triple negative breast cancer (TNBC) and their relationship with clinicopathological features and prognosis. A total of 189 TNBC samples, including 32 cases with tumor...
To investigate the expression of STAT6 and HER2 in triple negative breast cancer (TNBC) and their relationship with clinicopathological features and prognosis. A total of 189 TNBC samples, including 32 cases with tumor and surrounding normal tissues from Peking Union Medical College Hospital from 2000 to 2011 were collected and tissue microarrays were made. The expression of STAT6 in tumor cells and normal breast tissues was evaluated by immunohistochemistry, and the difference between them were analyzed. The expression of HER2 was classified into 0 and low expression. The relationship with clinicopathological parameters and the prognosis was analyzed. The 57.1% (108/189) cases showed STAT6 high expression, 34.4% (65/189) showed HER2 low expression, and 27.0% (51/189) showed co-expression. The expression of STAT6 in normal breast tissue was lower than that in tumor (=-5.549, <0.01). Chi-square test showed that compared with STAT6 low patients, STAT6 high had higher HER2-low, and lower distant metastasis rate (17.3% . 47.2%, <0.01; 22.3% . 39.2%, =0.013); compared with HER2-0 patients, HER2-low had higher STAT6-high, and lower distant metastasis rate (46.0% . 78.5%, <0.01; 16.1% . 36.7%, =0.004). Follow-up was 70(54,95) months, 7 patients (7/189, 3.7%) were lost to follow-up, 68 patients (68/189, 36.0%) relapsed, and 36 patients passed away (36/189, 19.0%). Kaplan-Meier survival analysis showed that tumor size, American Joint Committee on Cancer (AJCC) stage, lymph node metastasis, distant metastasis, and STAT6-low/HER2-0 were negatively correlated with the disease-free survival (DFS) and the overall survival (OS, all <0.05). STAT6-high, HER2-low expression and STAT6-high/HER2-low were positively correlated with DFS and OS (all <0.05). Age was only positively associated with OS (=0.030). COX regression analysis showed that TNBC patients with higher AJCC stage had significantly shorter DFS and OS (=8.415, 95%: 3.623-19.544, <0.001; =15.377, 95%:3.508-67.395,<0.001); TNBC patients with STAT6-high/HER2-low had significantly longer DFS and OS, which was an independent risk factor for prognosis (=0.362, 95%: 0.186-0.705, =0.003; =0.168, 95% 0.038-0.743, =0.019). In triple-negative breast cancer, the expression of STAT6 is higher than that in normal breast tissue. High expression of STAT6 is significantly correlated with HER2-low expression. STAT6-high/HER2-low may predict a good prognosis.
[Rosai-Dorfman disease of the breast: a clinicopathological and molecular genetic analysis of four cases].
Huang ZD, Zhai BY, Xu C … +3 more , Ding Y, Zhang ZH, Wang C
Zhonghua Bing Li Xue Za Zhi · 2026 Mar · PMID 41795986 · Publisher ↗
To investigate the clinicopathological, imaging, and molecular characteristics of mammary Rosai-Dorfman disease (RDD). A retrospective analysis was performed on four cases of primary RDD in the breast diagnosed at the F...
To investigate the clinicopathological, imaging, and molecular characteristics of mammary Rosai-Dorfman disease (RDD). A retrospective analysis was performed on four cases of primary RDD in the breast diagnosed at the First Affiliated Hospital with Nanjing Medical University from January 2018 to September 2025. Clinical, histopathological, and immunohistochemical features were reviewed, next-generation sequencing (NGS) was conducted, and the findings were discussed in the context of relevant literature. Among the four cases, three were female and one was male, with ages of 54, 33, 67 and 62 years respectively. Ultrasound findings suggested inflammatory changes in one case, BI-RADS category 3 in one case, and BI-RADS category 4 in two cases. Microscopic examination revealed infiltration of lymphocytes, plasma cells, and histiocytes, with characteristic emperipolesis observed in some cases. Immunohistochemically, the lesional cells were positive for CD68, CD163, cyclin D1, S-100, and OCT2, and negative for Langerin and ALK. NGS performed in all four cases identified somatic mutations in homologous recombination repair-related genes-including RAD54L, RAD50, MRE11, and BRIP1-in three cases. One case showed somatic mutations in genes associated with signaling pathways and immune inflammation, such as AXIN2, FGF19, MYD88, NF2, and TSC2. RDD of the breast presents with non-specific clinical manifestations and radiologically misleading features. Its histopathological characteristics (especially the emperipolesis phenomenon) and typical immunohistochemical profile (CD68+, CD163+, cyclin D1+, S-100+, Langerin-, ALK-) may aid in differential diagnosis. The high frequency of DNA homologous recombination repair-related gene mutations in mammary RDD provides new insights into its pathogenesis and supports its classification as a clonal disease.
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