Objective:To study the clinical and pathological features, immunophenotypes, molecular genetics characteristics, differential diagnosis, and prognostic factors of pulmonary and tracheal glomus tumors.Method:Eight cases of pulmonary and tracheal glomus tumors were collected in Jiangsu Provincial Hospital (including 1 consultation, from Gaochun People's Hospital, Nanjing, China) between May 2015 and April 2023, and their clinical and imaging data, pathological morphology, and immunohistochemical characteristics were retrospectively analyzed. Gene testing and follow-up were performed.Result:There were 5 males and 3 females with onset ages ranging from 29 to 75 years old, median age 63.5 years. Among the patients, 5 cases were located in the trachea and 3 cases in the lungs. Under light microscopy, 5 cases were benign glomus tumors with clear boundaries, diffuse sheet or nest-like distribution, small, round or short spindle-shaped tumor cells, rounded and centered nuclei, and no obvious nuclear mitosis was seen. Two cases of glomus tumor of uncertain malignant potential showed an infiltrative growth pattern involving smooth muscle, nerves and blood vessels with necrosis and calcification, the tumor cells were more uniform in size, round or short spindle-shaped nuclei, and no obvious nuclear mitosis was seen; One case of malignant glomus tumor was seen in sarcomatous areas, lung membrane invasion and necrosis, the tumor cells were highly heterogeneous, binucleated and multinucleated, with nuclear mitoses of 20/50 high power field (HPF), and pathologic nuclear mitoses were easy to be seen. Immunohistochemically, SMA, Calponin, H-caldesmon, Vimentin and Collagen Ⅳ were all positive (8/8). Some cases expressed Syn (3/8) and Bcl-2 (4/8). The Ki-67 proliferation index was 1-2% (7/8) and 40% (1/8). BRAF V600E were detected as wild-type (8/8), and no mutations were detected in exons 2, 3, and 4 of KRAS human EML4- ALK fusion gene were negative in 5 surgical cases. Case 6 showed HMBOX1- ALK gene fusion, TERT gene mutation and CDKN2A gene deletion, and case 8 showed CARMN- NOTCH2 gene fusion. Seven cases were followed up (8-103 months, median follow-up time 30 months), 1 case was lost, 1 case recurred 21 months after surgery, and others with no evidence of recurrence or metastasis. Conclusions:Pulmonary and tracheal glomus tumors are very rare and need to be differentiated from other common tumors by combining pathological morphology and immunohistochemistry. Maybe there are some differences in the malignant diagnostic criteria and molecular genetic characteristics between visceral derived glomus tumors and soft tissue derived tumors of the same kind, such as limbs and skin. More data accumulation is needed.

BACKGROUND: Primary pulmonary mucoepidermoid carcinoma (PMEC) is an exceedingly rare malignancy originating from bronchial submucosal glands, accounting for <0.2% of lung cancers. Histologically characterized by a triphasic composition of mucinous, epidermoid, and intermediate cells, PMEC is classified into low-grade (favorable prognosis) and high-grade (aggressive behavior) subtypes. This study aimed to investigate the clinicopathological characteristics and prognostic indicators of PMEC. METHODS: Clinicopathological, radiological, molecular, and survival data from 26 PMEC patients were retrospectively analyzed, including immunohistochemical profiles and MAML2 rearrangement status, supplemented by literature review. RESULTS: The cohort comprised 14 males and 12 females (mean age: 55.6 years). Eight patients (30.8%) were smokers, and 19 (73.1%) presented with symptoms. Central tumors predominated (n=19, 73.1%) versus peripheral lesions (n=7, 26.9%). Computed tomography (CT) imaging consistently revealed hypo-to-isodense masses/nodules. Pathologically, 19 cases were low-grade and 7 high-grade. Immunohistochemically, the tumor cells were positive for CK7, P40, P63 and CK5/6, and the Ki-67 index ranged from 2% to 70%. MAML2 rearrangement was detected in 52.4% (11/21) of tested cases. Clinical staging distribution: stage I (n=14), stage II (n=8), stage III (n=3), stage IV (n=1). Treatment modalities: radical surgery alone (n=13), surgery with adjuvant chemotherapy (n=11), chemoradiotherapy (n=1), and conservative management (n=1). With a median follow-up of 57 months, 6 patients (23.1%) died. Prognostic analysis demonstrated: (1) Significantly inferior survival in high-grade versus low-grade groups (P<0.05); (2) Lymph node metastasis, advanced stage, Ki-67>20%, and high-grade histology significantly correlated with reduced overall survival (P<0.05); (3) Lymph node metastasis constituted an independent poor prognostic factor (HR=12.73, 95%CI: 1.22-132.96). CONCLUSIONS PMEC exhibits distinct clinicopathological features, with MAML2 rearrangement present in approximately half of cases. Lymph node metastasis, advanced stage, high Ki-67 proliferation index, and high-grade histology are key determinants of poor prognosis, with lymph node metastasis serving as an independent risk factor.
Humans ; Male ; Female ; Middle Aged ; Carcinoma, Mucoepidermoid/mortality* ; Lung Neoplasms/mortality* ; Trans-Activators/genetics* ; Prognosis ; Adult ; Gene Rearrangement ; Aged ; Retrospective Studies ; Transcription Factors/genetics* ; DNA-Binding Proteins/genetics*

Objective:To study the clinical and pathological features, immunophenotypes, molecular genetics characteristics, differential diagnosis, and prognostic factors of pulmonary and tracheal glomus tumors.Method:Eight cases of pulmonary and tracheal glomus tumors were collected in Jiangsu Provincial Hospital (including 1 consultation, from Gaochun People's Hospital, Nanjing, China) between May 2015 and April 2023, and their clinical and imaging data, pathological morphology, and immunohistochemical characteristics were retrospectively analyzed. Gene testing and follow-up were performed.Result:There were 5 males and 3 females with onset ages ranging from 29 to 75 years old, median age 63.5 years. Among the patients, 5 cases were located in the trachea and 3 cases in the lungs. Under light microscopy, 5 cases were benign glomus tumors with clear boundaries, diffuse sheet or nest-like distribution, small, round or short spindle-shaped tumor cells, rounded and centered nuclei, and no obvious nuclear mitosis was seen. Two cases of glomus tumor of uncertain malignant potential showed an infiltrative growth pattern involving smooth muscle, nerves and blood vessels with necrosis and calcification, the tumor cells were more uniform in size, round or short spindle-shaped nuclei, and no obvious nuclear mitosis was seen; One case of malignant glomus tumor was seen in sarcomatous areas, lung membrane invasion and necrosis, the tumor cells were highly heterogeneous, binucleated and multinucleated, with nuclear mitoses of 20/50 high power field (HPF), and pathologic nuclear mitoses were easy to be seen. Immunohistochemically, SMA, Calponin, H-caldesmon, Vimentin and Collagen Ⅳ were all positive (8/8). Some cases expressed Syn (3/8) and Bcl-2 (4/8). The Ki-67 proliferation index was 1-2% (7/8) and 40% (1/8). BRAF V600E were detected as wild-type (8/8), and no mutations were detected in exons 2, 3, and 4 of KRAS human EML4- ALK fusion gene were negative in 5 surgical cases. Case 6 showed HMBOX1- ALK gene fusion, TERT gene mutation and CDKN2A gene deletion, and case 8 showed CARMN- NOTCH2 gene fusion. Seven cases were followed up (8-103 months, median follow-up time 30 months), 1 case was lost, 1 case recurred 21 months after surgery, and others with no evidence of recurrence or metastasis. Conclusions:Pulmonary and tracheal glomus tumors are very rare and need to be differentiated from other common tumors by combining pathological morphology and immunohistochemistry. Maybe there are some differences in the malignant diagnostic criteria and molecular genetic characteristics between visceral derived glomus tumors and soft tissue derived tumors of the same kind, such as limbs and skin. More data accumulation is needed.

BACKGROUND/OBJECTIVES: The study examined the association between homocysteine and diabetes mellitus in patients with H-type hypertension and assessed the possible effect modifiers. SUBJECTS/METHODS: This cross-sectional study included 1,255 eligible participants in the ‘H-type Hypertension Management and Stroke Prevention Strategic International Science and Technology Innovation Cooperation Project’ among rural Chinese people with H-type hypertension. A multivariate logistic regression model was used to evaluate the relationship between homocysteine and diabetes mellitus. RESULTS: The mean level of total homocysteine (tHcy) in the diabetes mellitus population was 19.37 μmol/L, which was significantly higher than the non-diabetic patients (18.18 μmol/L). When tHcy was analyzed as a continuous variable, the odds ratio (OR) of diabetes was 1.17 (95% confidence interval [CI], 1.01–1.35; per interquartile range). When tHcy was stratified according to the quintile, the ORs for diabetes were 2.86 (95% CI, 1.22–6.69) in the highest quintile (tHcy ≥ 20.60 μmol/L) compared to the reference group (tHcy < 12.04 μmol/L). When tHcy was grouped by 15 μmol/L and 20 μmol/L, patients with tHcy ≥ 20 μmol/L had a significantly (P = 0.037) higher risk of diabetes (OR, 2.03; 95% CI, 1.04–3.96) than in those with tHcy < 15 μmol/L. Subgroup analysis showed that the tHcy-diabetes association was unaffected by other variables. CONCLUSION In this study of rural Chinese people with H-type hypertension, the tHcy levels showed a positive association with diabetes mellitus. This independent association is unaffected by other potential risk factors.

Objective:To explore the clinicopathological characteristics, immunophenotype, diagnosis and differential diagnosis of renal mucinous tubular and spindle cell carcinoma (MTSCC), and to explore the all-exon mutations, microsatellite stability and tumor mutational burden (TMB) in MTSCC cases.Methods:The data of 5 patients with MTSCC that were submitted to the Department of Pathology, First Affiliated Hospital of Soochow University, China from January 2008 to May 2020, were reviewed and analyzed. The whole exome sequencing (WES) was conducted in all patients, while 3 of them were subject to the analyses of microsatellite stability and TMB.Results:Among the 5 patients, 3 were males and 2 were females. They were 37-76 years old. The maximum diameter of the tumor was 3.5-6.0 cm. The borders of the tumors were well defined. Microscopically, MTSCC was characterized by tubular structure, spindle cell and mucinous stroma, and the nuclear grade of tumor cells was overall low. The average follow-up was 15 months, and no recurrence or metastasis was found. Immunohistochemistry showed that all 5 cases were positive for broad-spectrum cytokeratin (CKpan), cytokeratin (CK)7, CK19, vimentin, PAX8, and P504s (varying expression levels), and the Ki-67 positive index was low. The WES of 5 cases showed that NF2 and PTPN14 exhibited higher mutation rates, which were 3/5 and 2/5, respectively. The microsatellite stability analysis indicated that the 3 cases were all microsatellite stable, and the TMB analysis showed that the TMB of the 3 cases were all <9 mut/Mb.Conclusions:MTSCC is a unique, low-grade pleomorphic kidney tumor. The WES analyses suggest that NF2 and PTPN14 have a higher mutation rate, indicating that the occurrence and development of MTSCC may be closely related to the Hippo pathway. The analysis of microsatellite stability indicates that there is no significant relationship between microsatellite stability and MTSCC, and the TMB analysis suggests that MTSCC patients may not benefit from immunotherapy.

Objective: To study the pathological features, immunophenotypes, differential diagnoses and prognostic parameters of collecting duct carcinoma of the kidney (CDC). Methods: Clinical imaging, histopathology, immunohistochemistry, and survival data of 10 patients at First Affiliated Hospital of Nanjing Medical University from January 2009 to August 2017 were retrospectively analyzed along with a review of literatures. Results: The clinical symptoms of CDC were not specific, and image examinations showed space-occupying mass lesions. Tumors were mainly located in renal medulla with grey and firm cut face and the presence of focal hemorrhage and necrosis. Microscopically, there were predominant tubular or tubular-papillary structures with associated focal sarcomatoid areas, desmoplastic stromal reaction and lymphoplasmacytic cells infiltration. Tumor cells had marked cytological atypia with high grade nuclei, conspicuous nucleolus and numerous mitoses. Immunohistochemically, tumor cells were strongly positive for CK19, E-cadherin, vimentin, HCK, CK7 and PAX8. The main treatment was radical nephrectomy in the patients. Seven cases died of CDC with median survival of 10 months. Conclusions CDC is a rare, highly aggressive malignancy of kidney with poor prognosis. Definitive diagnosis should be made by histology and immunohistochemistry. Differential diagnoses include papillary renal cell carcinoma(type Ⅱ), renal medullary carcinoma, infiltrating high grade urothelial carcinoma, renal pelvis adenocarcinoma and metastatic adenocarcinomas.