中华病理学杂志最新文献

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[Macrophage MerTK modulates the cGAS-STING pathway to drive immune evasion in BRCA1/2-mutated breast cancer]. 巨噬细胞MerTK调节cGAS-STING通路驱动brca1 /2突变乳腺癌的免疫逃避。
中华病理学杂志 Pub Date : 2026-10-08 DOI: 10.3760/cma.j.cn112151-20260420-00281
M C Piao
{"title":"[Macrophage MerTK modulates the cGAS-STING pathway to drive immune evasion in BRCA1/2-mutated breast cancer].","authors":"M C Piao","doi":"10.3760/cma.j.cn112151-20260420-00281","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20260420-00281","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 10","pages":"1006-1011"},"PeriodicalIF":0.0,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Clinicopathological and molecular characteristics of primary small cell neuroendocrine carcinoma of the breast: an analysis of nine cases]. 乳腺原发性小细胞神经内分泌癌的临床病理及分子特征:附9例分析
中华病理学杂志 Pub Date : 2026-10-08 DOI: 10.3760/cma.j.cn112151-20260601-00427
Z G Zou, D Lu, J X Zhou, S Huang, R P Huang, S H Zhan, H Ni, Y H Wang, L C Guo, W S Liu
{"title":"[Clinicopathological and molecular characteristics of primary small cell neuroendocrine carcinoma of the breast: an analysis of nine cases].","authors":"Z G Zou, D Lu, J X Zhou, S Huang, R P Huang, S H Zhan, H Ni, Y H Wang, L C Guo, W S Liu","doi":"10.3760/cma.j.cn112151-20260601-00427","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20260601-00427","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological and molecular characteristics of primary small cell neuroendocrine carcinoma (SCNEC) of the breast. <b>Methods:</b> A retrospective analysis was conducted on the 9 patients with SCNEC of the breast diagnosed at the Department of Pathology of the First Affiliated Hospital of Soochow University, Suzhou, China from January 2011 to December 2025. Hematoxylin-eosin (HE) staining, immunohistochemistry (IHC), and next-generation sequencing (NGS) were employed to evaluate the clinicopathological characteristics, immunophenotypes, and molecular alterations. Treatment and follow-up data were also reviewed. <b>Results:</b> All 9 patients were female, with an age of 54.0 (45.0, 67.5) years. The maximum tumor diameter ranged from 1.8 to 10.6 cm. Pathological morphology exhibited features of small cell carcinoma. Necrosis was observed in 7 cases, intravascular tumor thrombus in 2 cases, and tumor involvement of the nipple epidermis in 1 case. All cases were positive for CKpan, chromongranin A and synaptophysin, while partial expression was noted for CD56 (7/9), ER (3/9), PR (1/9), TRPS1 (5/9), and GATA3 (3/9). All cases showed mutant-type p53 expression and loss of RB1 protein expression. The Ki-67 proliferation index ranged from 60% to 90%. NGS showed that TP53 was the most frequently mutated gene, with missense mutations identified in 3 of the 4 cases tested. Tumor mutational burden (TMB) analysis showed that all 4 cases had TMB <10 Muts/Mb, falling into the low TMB category. Microsatellite instability analysis revealed that 1 case was microsatellite instability-high, with a concurrent MSH6 frameshift mutation, indicating mismatch repair deficiency. Among the 7 patients who underwent surgery, 1 received neoadjuvant chemotherapy with marked tumor regression, and 4 received postoperative adjuvant therapy. The other 2 patients with advanced disease did not undergo surgery but received systemic chemotherapy after core needle biopsy. Follow-up data were available for 6 of the 9 patients, with follow-up periods ranging from 3 to 87 months. Three patients were alive, and three patients died at 22, 24, and 27 months after surgery, respectively. <b>Conclusions:</b> Primary SCNEC of the breast is a rare type of highly aggressive malignancy. Its diagnosis requires the exclusion of metastasis from other primary sites. The immunophenotype is mostly ER/PR-negative in this cohort, and GATA3 and TRPS1 are of limited value in confirming a mammary origin. p53 mutation and loss of RB1 expression are common molecular alterations in this tumor.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 10","pages":"966-973"},"PeriodicalIF":0.0,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Guidelines on clinical practice of molecular tests in non-small cell lung cancer (2026 updated version)]. [非小细胞肺癌分子检测临床实践指南(2026年更新版)]。
中华病理学杂志 Pub Date : 2026-10-08 DOI: 10.3760/cma.j.cn112151-20260706-00508
{"title":"[Guidelines on clinical practice of molecular tests in non-small cell lung cancer (2026 updated version)].","authors":"","doi":"10.3760/cma.j.cn112151-20260706-00508","DOIUrl":"10.3760/cma.j.cn112151-20260706-00508","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 10","pages":"931-939"},"PeriodicalIF":0.0,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Relationship between tumor regression pattern and prognosis after neoadjuvant therapy for breast cancer]. [乳腺癌新辅助治疗后肿瘤消退方式与预后的关系]。
中华病理学杂志 Pub Date : 2026-10-08 DOI: 10.3760/cma.j.cn112151-20260512-00369
Y Ding, X Q He, R W Mi, T Y Wang, Z Z Cui, Y P Liu
{"title":"[Relationship between tumor regression pattern and prognosis after neoadjuvant therapy for breast cancer].","authors":"Y Ding, X Q He, R W Mi, T Y Wang, Z Z Cui, Y P Liu","doi":"10.3760/cma.j.cn112151-20260512-00369","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20260512-00369","url":null,"abstract":"<p><p><b>Objective:</b> To retrospectively analyze the histological regression patterns observed in residual tumor beds following neoadjuvant therapy (NAT) for breast cancer, with the aim of evaluating their prognostic significance. <b>Methods:</b> A total of 1 102 patients with pathologically confirmed invasive breast carcinoma of no special type (IBC-NST) who received surgical resection following NAT from 2015 to 2019 were enrolled at the Department of Pathology, the Fourth Hospital of Hebei Medical University. Histological evaluation was performed based on whole-slide images. Regression patterns were classified according to the spatial distribution of residual tumor. The associations between regression patterns and clinicopathological features were assessed. Independent prognostic factors for disease free survival (DFS) and overall survival (OS) were analyzed, and relevant results were visualized. <b>Results:</b> The age of 1 102 patients was 49 (42, 58) years, and the follow-up period was 81 (69, 93) months. Tumor regression patterns were classified into two categories based on histological characteristics: concentric regression and centrifugal regression. Concentric regression was further subdivided into four subtypes: isolated residual (Iso), concentric regression (Con), ring-like regression (Cir), and pathological complete response (pCR). Centrifugal regression comprised five subtypes: no/minimal response (No/Min), cord-like regression (Cor), clumpy regression (Clu), cribriform regression (Cri), and mixed regression (Mix). Significant differences in DFS and OS were observed among the nine subtypes. Overall, patients with concentric regression exhibited markedly better survival outcomes than those with centrifugal regression (<i>P</i><0.05), and this difference remained statistically significant in the HR⁺HER2<sup>-</sup> molecular subgroup. <b>Conclusions:</b> Histologic regression patterns in the residual tumor bed after neoadjuvant therapy were associated with prognosis in patients with breast cancer. Disease-free survival and overall survival were shorter in the centrifugal regression group than in the centripetal regression group. Histologic changes in the tumor bed may serve as an indicator for risk stratification in breast cancer.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 10","pages":"974-981"},"PeriodicalIF":0.0,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Comparative analysis of clinicopathological features of allergic fungal rhinosinusitis and eosinophilic mucin rhinosinusitis]. 【变应性真菌性鼻窦炎与嗜酸性粘蛋白性鼻窦炎临床病理特征比较分析】。
中华病理学杂志 Pub Date : 2026-10-08 DOI: 10.3760/cma.j.cn112151-20260224-00134
D L Ma, Q Zhang, Y G Gao, Y S Piao
{"title":"[Comparative analysis of clinicopathological features of allergic fungal rhinosinusitis and eosinophilic mucin rhinosinusitis].","authors":"D L Ma, Q Zhang, Y G Gao, Y S Piao","doi":"10.3760/cma.j.cn112151-20260224-00134","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20260224-00134","url":null,"abstract":"<p><p><b>Objective:</b> To compare the clinicopathological features of allergic fungal rhinosinusitis (AFRS) and eosinophilic mucin rhinosinusitis (EMRS), and to evaluate the diagnostic values of various fungal staining methods. <b>Methods:</b> A retrospective analysis was conducted on 50 AFRS and 10 EMRS cases diagnosed from January 2022 to April 2024 at the Beijing Tongren Hospital, Capital Medical University. Clinicopathological characteristics were analyzed. All cases underwent routine histology staining, while fungal detection was performed using periodic acid-schiff (PAS), periodic-acid silver methenamine, and in situ hybridization staining to evaluate their diagnostic accuracy. <b>Results:</b> The incidence rates of asthma were 4.0%(2/50) in the AFRS group and 6 of 10 cases in the EMRS groups (<i>χ</i>²=18.029, <i>P</i><0.001). The proportions with nasal polyps in AFRS and EMRS groups were 62.0% (31/50) and all the 10 cases, respectively (<i>χ</i>²=3.944, <i>P</i>=0.047). The rates of unilateral disease were 70.0% (35/50) and 1 of 10 cases (<i>χ</i>²=10.125, <i>P</i>=0.001); the proportions with serum total IgE>500 IU/mL were 63.0% (17/27) and 1 of 8 cases, respectively (<i>P</i>=0.018). All these differences were statistically significant. No significant differences were observed between the two groups regarding age [AFRS: 34.0 (28.0, 44.8) years; EMRS: 41.0 (34.3, 51.5) years], sex (AFRS: male/female 26/24; EMRS: 6/4), nasal septal deviation [AFRS: 88.0% (44/50); EMRS: 7/10], previous sinus surgery [AFRS: 24.0% (12/50); EMRS: 2/10], or positive rate of serum allergen-specific IgE antibody test [AFRS: 88.9% (24/27); EMRS: 3/6] (all <i>P</i>>0.05). The histopathological features were overall similar. The nasal mucosa demonstrated eosinophil-predominant inflammatory infiltration, with extra-mucosal deposits of eosinophilic mucin. This mucin contained numerous clustered and scattered infiltrating eosinophils. Compared to EMRS, AFRS was characterized by more viscous mucin, higher cellular density and fungal hyphae in the mucin pool. Comparison of different fungal staining methods revealed that hematoxylin and eosin staining showed a sensitivity of 74.0% and a specificity of 100.0% (<i>κ</i>=0.487), while PAS staining showed a sensitivity of 96.0% and a specificity of 80.0% (<i>κ</i>=0.760); periodic-acid silver methenamine staining showed the sensitivity and specificity of 100% (<i>κ</i>=1.000); and in situ hybridization staining showed a sensitivity of 92.0% and a specificity of 100.0% (<i>κ</i>=0.793). <b>Conclusions:</b> The unilateral disease-incidence rate and the proportion of patients with serum total IgE>500 IU/mL are higher in AFRS than EMRS, while the asthma incidence and the proportion with nasal polyps are lower. Both periodic-acid silver methenamine and in situ hybridization staining demonstrate high sensitivity and specificity for fungal detection and are thus more suitable than PAS staining for diagnosing AFRS.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 10","pages":"982-988"},"PeriodicalIF":0.0,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Urothelial carcinoma of the renal pelvis and ureter with shadow cell morphology: report of a case]. 【肾盂及输尿管尿路上皮癌伴影细胞形态1例报告】。
中华病理学杂志 Pub Date : 2026-09-08 DOI: 10.3760/cma.j.cn112151-20260125-00076
S M Chen, J H Wang, L Wang, L Li, Y Zhang, X Feng, L Xie, Y F Zhang
{"title":"[Urothelial carcinoma of the renal pelvis and ureter with shadow cell morphology: report of a case].","authors":"S M Chen, J H Wang, L Wang, L Li, Y Zhang, X Feng, L Xie, Y F Zhang","doi":"10.3760/cma.j.cn112151-20260125-00076","DOIUrl":"10.3760/cma.j.cn112151-20260125-00076","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 9","pages":"883-886"},"PeriodicalIF":0.0,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Idiopathic mesenteric phlebosclerosis colitis: a clinicopathological analysis of three cases]. 特发性肠系膜静脉硬化性结肠炎3例临床病理分析
中华病理学杂志 Pub Date : 2026-09-08 DOI: 10.3760/cma.j.cn112151-20251215-00824
L Li, R Y Cheng, M Chen, J Li, X Y Shi
{"title":"[Idiopathic mesenteric phlebosclerosis colitis: a clinicopathological analysis of three cases].","authors":"L Li, R Y Cheng, M Chen, J Li, X Y Shi","doi":"10.3760/cma.j.cn112151-20251215-00824","DOIUrl":"10.3760/cma.j.cn112151-20251215-00824","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 9","pages":"868-871"},"PeriodicalIF":0.0,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Clinicopathological analysis of primary central nervous system ALK-positive histiocytosis]. 原发性中枢神经系统alk阳性组织细胞增多症的临床病理分析。
中华病理学杂志 Pub Date : 2026-09-08 DOI: 10.3760/cma.j.cn112151-20260202-00103
L Q Ou, W G Zhang, L Y Fu, X C Chen, Y R Yan, W M Hu
{"title":"[Clinicopathological analysis of primary central nervous system ALK-positive histiocytosis].","authors":"L Q Ou, W G Zhang, L Y Fu, X C Chen, Y R Yan, W M Hu","doi":"10.3760/cma.j.cn112151-20260202-00103","DOIUrl":"10.3760/cma.j.cn112151-20260202-00103","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 9","pages":"860-863"},"PeriodicalIF":0.0,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Fibrolamellar hepatocellular carcinoma: a clinicopathological and molecular genetic analysis of nine cases]. 纤维层状肝细胞癌9例临床病理及分子遗传学分析
中华病理学杂志 Pub Date : 2026-09-08 DOI: 10.3760/cma.j.cn112151-20260112-00027
W W Weng, H Bao, M Zhang, C Tan, S J Ni, D Huang, G Ji, Q L Yao, Q M Bai, X Y Zhou, W Q Sheng, L Wang
{"title":"[Fibrolamellar hepatocellular carcinoma: a clinicopathological and molecular genetic analysis of nine cases].","authors":"W W Weng, H Bao, M Zhang, C Tan, S J Ni, D Huang, G Ji, Q L Yao, Q M Bai, X Y Zhou, W Q Sheng, L Wang","doi":"10.3760/cma.j.cn112151-20260112-00027","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20260112-00027","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological and molecular features of fibrolamellar hepatocellular carcinoma (FL-HCC). <b>Methods:</b> The clinicopathological and prognostic information of 9 FL-HCC cases diagnosed at the Fudan University Shanghai Cancer Center, Shanghai, China from January 2018 to December 2024 were collected and analyzed. The FL-HCC samples were examined with immunohistochemical staining, fluorescence in situ hybridization (FISH), and RNA-based next-generation sequencing (NGS). The related literature was also reviewed. <b>Results:</b> There were 3 males and 6 females. The patients' age was 18.0 (10.5, 26.0) years. One of the 9 patients had slightly elevated serum AFP level, and 2 patients had current infection of hepatitis B virus. Five cases occurred in the left lobe of the liver, 3 cases in the right lobe of the liver, and 1 case had multiple lesions involving both the left and right lobes. The tumor sizes ranged from 4.0 to 21.4 cm. Microscopically, neoplastic cells were mainly arranged in sheets or nests, separated by dense collagen bundles frequently arranged in cord-like or parallel lamellae. The tumor cells were large and polygonal, with abundant granular and eosinophilic cytoplasm, large vesicular nuclei, and prominent nucleoli. All tumor cells expressed CK7, HepPar-1, and Arg-1. Molecular analysis revealed that 6 cases harbored the DNAJB1::PRKACA gene fusion by NGS, while the other 3 cases showed PRKACA gene rearrangement by FISH using a break-apart probe. The follow-up period ranged from 7 to 80 months. One patient was lost to follow-up after diagnosis, 3 patients survived without recurrence, 1 patient relapsed with lung metastasis, and 4 patients died of the disease. <b>Conclusion:</b> FL-HCC is a rare type of hepatocellular carcinoma characterized by laminated intratumoral fibrous stroma and specific fusion (DNAJB1::PRKACA) or rearrangement of the PRKACA gene.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 9","pages":"847-853"},"PeriodicalIF":0.0,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Birt-Hogg-Dubé syndrome-associated renal tumors: a clinicopathological and molecular genetic analysis of ten cases]. 【birt - hogg - dub<s:1>综合征相关肾肿瘤:10例临床病理及分子遗传学分析】。
中华病理学杂志 Pub Date : 2026-09-08 DOI: 10.3760/cma.j.cn112151-20260203-00106
X Cheng, Y Zhan, Y J Wang, X Q Yang, H Z Zhang
{"title":"[Birt-Hogg-Dubé syndrome-associated renal tumors: a clinicopathological and molecular genetic analysis of ten cases].","authors":"X Cheng, Y Zhan, Y J Wang, X Q Yang, H Z Zhang","doi":"10.3760/cma.j.cn112151-20260203-00106","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20260203-00106","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To investigate the clinicopathological features, immunophenotypic characteristics, molecular genetic profiles for an accurate diagnosis of renal tumors associated with Birt-Hogg-Dubé (BHD) syndrome. &lt;b&gt;Methods:&lt;/b&gt; Clinicopathological data from 10 patients with BHD syndrome-associated renal tumors were collected from Ningbo Clinical Pathology Diagnosis Center (4 cases) and Ruijin Hospital, Shanghai Jiaotong University School of Medicine (5 in-house cases and 1 consultation case) from January 2015 to December 2025. Their clinical characteristics and histological features were studied and analyzed. Immunohistochemical staining and next-generation sequencing (NGS) were performed. Follow-up data were obtained and relevant literature was reviewed. &lt;b&gt;Results:&lt;/b&gt; All 10 patients were adults, including 6 males and 4 females, with an age 57 (54, 67) years old. Seven patients had pulmonary bullae/pneumothorax and one patient had a right anterior chest wall fibroma. For the patients with renal tumor, 6 cases presented with a unilateral single tumor, 1 case with unilateral multiple tumors and 3 cases with bilateral multiple tumors (totaling 16 renal tumors). Four cases of the renal tumor were associated with multiple renal cysts. Histologically, among the 16 tumors, 10 were hybrid oncocytic/chromophobe tumors (HOCT) with the typical \"mosaic\" pattern, 4 with chromophobe renal cell carcinoma-like morphology, 1 with predominantly sarcomatoid morphology and focal areas of low-grade oncocytic renal tumor, and 1 renal angiomyolipoma. The immunophenotype of BHD-associated renal tumors was not specific. Immunohistochemistry revealed diffuse positive for GPNMB in all epithelial-derived renal tumors (15/15). CK7 and CD117 were focally expressed in 7/15 cases each, CD10 was focally expressed in 6/15 cases, and carbonic anhydrase Ⅸ (CAⅨ) was negative in all tumors (0/15). ALK, TFE3 and TFEB were negative. No loss of SDHB or FH expression was identified. DNA next-generation sequencing identified FLCN mutations in all cases, including 7 cases with germline FLCN mutations and 3 cases with somatic FLCN mutations. During a 9-120 months follow-up, the patient with sarcomatoid differentiation passed away 6 months after renal tumor identified, and another patient experienced relapse in the left kidney 6 years after bilateral nephron-sparing surgery. No relapse or metastasis was identified in the remaining 8 patients. &lt;b&gt;Conclusions:&lt;/b&gt; Morphologically, BHD syndrome-associated renal tumors can mimic various low-grade oncocytic renal tumors. In addition to the classic HOCT morphology, they may also present with high-grade sarcomatoid differentiation. GPNMB is a highly sensitive marker for BHD-associated renal tumors. Molecular genetic analysis to detect FLCN mutation is the gold standard for definitive diagnosis. BHD syndrome-associated renal tumors typically show indolent biological behavior, with sarcomatoid differentiation as a morphological feature ","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 9","pages":"831-838"},"PeriodicalIF":0.0,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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