Su XL, Wu JW, Wang PL
… +7 more, Hu LW, Chen YP, Ren CH, Song FL, Lin HR, Zhang S, Wang XF
Zhonghua Bing Li Xue Za Zhi
· 2025 Nov · PMID 41183817
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To investigate the clinicopathological and molecular genetic characteristics of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY) and their prognostic values. A retro...To investigate the clinicopathological and molecular genetic characteristics of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY) and their prognostic values. A retrospective analysis was performed on 14 cases of diffuse gliomas with PLNTY features diagnosed at the First Affiliated Hospital of Fujian Medical University, Fuzhou, China from June 2020 to August 2024. Their clinicopathological characteristics were examined, and their molecular genetic and epigenetic features were assessed using next-generation sequencing (NGS) and methylation analysis. Factors influencing prognosis were also analyzed. Among the 14 patients, there were 8 males and 6 females, aged 3-62 years, median 29 (9, 50) years. All cases were initially diagnosed as low-grade diffuse gliomas histologically but exhibited the histological and immunohistochemical features of PLNTY. At the molecular level, all cases showed molecular abnormalities involving the mitogen-activated protein kinase pathway, including 5 cases with FGFR3-TACC3 (F3T3) fusion, 3 cases with FGFR2 fusion, 5 cases with BRAF V600E mutation, and 1 case with FGFR1 mutation. Among them, TERT promoter mutations were frequently observed in tumors with F3T3 fusion (5/5), while NCOR2 in-frame insertion mutations were prominent in tumors with non-F3T3 fusions. Clinical follow-up showed recurrence in 3 cases, all of which had F3T3 fusion and concurrent TERT promoter mutations. Prognostic analysis confirmed that F3T3 fusion with concurrent TERT promoter mutation was associated with poor prognosis. Diffuse gliomas with PLNTY features exhibit heterogeneity in clinicopathology and molecular genetics, with FGFR3/FGFR2 fusions and BRAF/FGFR1 mutations as the most common molecular alteration. They often have concurrent F3T3 fusion and TERT promoter mutations, which are related to poor prognosis. The possibility of molecular glioblastoma should be considered for these tumors. It is thus recommended to perform genetic testing on diffuse gliomas with PLNTY features in order to facilitate integrated diagnosis and provide molecular evidence for accurate evaluation of prognoses.
Zheng JY, Zhao C, Liang J
… +5 more, Pan YH, Hu W, Tang LY, Shao CK, Chen JN
Zhonghua Bing Li Xue Za Zhi
· 2025 Nov · PMID 41183816
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To investigate the clinicopathological characteristics and genetic alterations of undifferentiated embryonal sarcoma of the liver (UESL). Three cases of UESL diagnosed in the Department of Pathology, the Third Affiliate...To investigate the clinicopathological characteristics and genetic alterations of undifferentiated embryonal sarcoma of the liver (UESL). Three cases of UESL diagnosed in the Department of Pathology, the Third Affiliated Hospital of Sun Yat-sen University from 2020 to 2023 were retrospectively collected. The clinical, histomorphological, immunohistochemical, and genetic profiles were reviewed and analyzed. The cohort comprised of three patients, including one male and two females, aged 7, 9, and 15 years, respectively. Tumor locations were in the right lobe of the liver in two cases, and in both the right and left lobes in one case. One case exhibited tumor rupture with hemorrhage. Gross examination revealed solid tumors in gray-red fleshy appearance, with areas of hemorrhage and necrosis. Microscopically, the tumor was composed of irregularly shaped spindle and polygonal cells arranged in bundles or sheets with varying density, scattered within a myxoid matrix containing giant tumor cells and eosinophilic globules. The tumor cells were positive for Vimentin, CD56, CD68, and bcl-2, with a Ki-67 index of 30%-80%. INI1 expression was retained, while p53 exhibited a mutant pattern. CKpan, CK7, CK19, EMA, HepPar-1, Arginase-1, AFP, CD34, S-100, Myogenin, and MyoD1 were negative. All three cases harbored TP53 missense mutations. Case 1 also showed MDM2 copy number amplification (class Ⅰ mutation), and case 2 exhibited a frameshift mutation in exon 10 of TSC2 (class Ⅱ mutation). Additionally, several class Ⅲ mutations were identified in all three cases. Germline testing for tumor-related genetic variants in case 2 revealed a missense mutation in exon 12 of DICER1, an in-frame insertion mutation in exon 8 of MSH2, and a missense mutation in exon 30 of TSC2. UESL is a rare malignant mesenchymal tumor of the liver, predominantly affecting children, with distinctive clinicopathological features and genetic alterations. TP53 mutations may play a key role in the pathogenesis of this tumor.
Zhonghua Bing Li Xue Za Zhi
· 2025 Nov · PMID 41183815
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To investigate the clinicopathological characteristics of type 2 autoimmune pancreatitis (AIP) and to explore its relationship with inflammatory bowel disease (IBD). AIP cases confirmed by pathology in the First Affilia...To investigate the clinicopathological characteristics of type 2 autoimmune pancreatitis (AIP) and to explore its relationship with inflammatory bowel disease (IBD). AIP cases confirmed by pathology in the First Affiliated Hospital of Zhejiang University School of Medicine from 2009 to 2024 were collected. According to the International Consensus Diagnostic Criteria (ICDC) for AIP, 11 patients were identified as histological level 1 (definite) or level 2 (probable) type 2 AIP. Their clinical manifestations, laboratory test results, imaging features, and histopathological characteristics were analyzed, and a follow-up was conducted. Meanwhile, 130 patients with type 1 AIP diagnosed in our hospital during the same period were selected as control group. Among 141 AIP patients, 11 cases (7.8%, 11/141) were diagnosed with type 2 AIP, including 7 cases of histologically level 1 and 4 cases of level 2. There were 10 male patients and 1 female patient, with a median age of 37(31,46) years (range: 25-47 years). Three patients were complicated with ulcerative colitis (UC). Compared with type 1 AIP patients, type 2 AIP patients were younger, often presented with acute pancreatitis or abdominal pain as the initial symptom, and had a close association with IBD (<0.05). Laboratory tests showed that only 1 patient had slightly elevated serum IgG4, while the other 10 patients had normal serum IgG4 levels. Serum CA19-9 was elevated in 8 patients, and the percentage of peripheral blood neutrophils was increased in 9 patients. Imaging findings revealed diffuse pancreatic enlargement in 8 patients and localized enlargement in 3 patients (2 cases in the pancreatic head and 1 case in the pancreatic body-tail). Magnetic resonance cholangiopancreatography (MRCP) showed main pancreatic duct stenosis in 5 cases (5/7). Histopathological features included 7 cases of level 1 type 2 AIP that showed neutrophilic infiltration in the pancreatic duct epithelium and massive neutrophilic infiltration between the acini. Immunohistochemistry showed that only 1 case had <5 IgG4-positive plasma cells per high-power field (HPF), while the other 10 cases were negative. All 11 patients with type 2 AIP received steroid therapy, and no recurrence was observed during the follow-up period of 5 to 174 months. Type 2 AIP has unique clinicopathological characteristics. It is more commonly found in young patients and often presents with manifestations similar to acute pancreatitis. Histologically, neutrophilic infiltration in the ductal epithelium is the common feature. Type 2 AIP is closely associated with IBD, especially UC.
Wang CS, Zhang D, Zhang X
… +6 more, Liu FC, Shi QY, Wu HY, Xia HP, Sun Q, Li L
Zhonghua Bing Li Xue Za Zhi
· 2025 Nov · PMID 41183814
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To explore the consistency of claudin 18.2 immunohistochemistry (IHC) using 4 different clone antibodies in gastric adenocarcinoma. A total of 226 gastric adenocarcinomas diagnosed and treated at the Drum Tower Hospital...To explore the consistency of claudin 18.2 immunohistochemistry (IHC) using 4 different clone antibodies in gastric adenocarcinoma. A total of 226 gastric adenocarcinomas diagnosed and treated at the Drum Tower Hospital Affiliated to Nanjing University Medical College between January 2022 to March 2023 were included in this study. The cohort consisted of 165 males and 61 females, with a mean age of (61.3±12.1) years. Tumor tissues from radical resection specimens were collected for tissue microarrays. IHC detection of claudin 18.2 was performed using the EnVision method, utilizing 4 clones of antibody: OTIR157B5, 43-14A, EPR19202 and D313D22. The results were interpreted based on both the intensity of staining on tumor cell membranes and the percentage of positive tumor cells relative to the total tumor cells. The positive cutoff value was set as moderately to strongly linear membrane staining in ≥75% of all viable invasive tumor cells, and clone OTIR157B5 demonstrated the highest positive expression rate at 52.2% (118/226). Additionally, the clones OTIR157B5, 43-14A, and EPR19202 were consistently and strongly positive, with all agreement rates of Cohen κ exceeding 0.8. In gastric adenocarcinoma and its three Lauren subtypes, OTIR157B5 exhibited clear membranous localization. Clone OTIR157B5 of claudin 18.2 antibody shows the highest rate of moderately to strongly linear membrane-positive staining, accounting for ≥75% of all viable invasive tumor cells, and clones 43-14A and EPR19202 show strong consistency and high sensitivity.
Zhonghua Bing Li Xue Za Zhi
· 2025 Nov · PMID 41183812
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In the past decade, breast pathology in China has made significant progress in diagnostic standards, technological applications, scientific research, and discipline development. The histopathological diagnostic system ha...In the past decade, breast pathology in China has made significant progress in diagnostic standards, technological applications, scientific research, and discipline development. The histopathological diagnostic system has been continuously refined, with the implementation of relevant guidelines and expert consensus enhancing standardization and reproducibility of diagnostic results. Immunohistochemistry and molecular testing technologies have become increasingly sophisticated, with emerging biomarkers such as low HER2 expression and PIK3CA mutations gradually integrated into clinical decision-making, promoting the advancement of precision therapy. The application of digital pathology and image-assisted analysis has steadily expanded, providing new tools to improve diagnostic efficiency and consistency. The national breast pathology group has actively advanced the development of tiered diagnostic systems, workforce training, and public education, effectively strengthening diagnostic capabilities at the grassroots level. Looking ahead, the integration of multidimensional data, optimization of auxiliary diagnostic systems, and interdisciplinary collaboration are expected to drive the continued development of breast pathology in China.
Zhonghua Bing Li Xue Za Zhi
· 2025 Nov · PMID 41183811
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Pediatric tumors differ significantly from adult cancers, possessing unique developmental origins, histological features, and molecular genetic changes. With the rapid advancement of multi-omics technologies, such as gen...Pediatric tumors differ significantly from adult cancers, possessing unique developmental origins, histological features, and molecular genetic changes. With the rapid advancement of multi-omics technologies, such as genomics, transcriptomics, proteomics, and epigenetic analyses, the molecular characteristics of pediatric tumors have been extensively revealed, providing new possibilities for precision medicine. Concurrently, the integration of artificial intelligence and digital pathology has effectively enhanced diagnostic accuracy, presenting a broad scope for future development. While this progress positively impacts the pathological diagnosis of pediatric tumors, it also presents challenges related to data complexity, technology integration, and the promotion of clinical applications. This article aims to discuss the influence of molecular and artificial intelligence, as well as multimodal integrated pathological models on diagnosis and prognostic prediction of pediatric tumor, with the goal of fostering further exploration and in-depth research.
Zhonghua Bing Li Xue Za Zhi
· 2025 Nov · PMID 41183810
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Colorectal cancer (CRC) is one of the most malignant tumors with high morbidity and mortality worldwide. Early diagnosis and accurate pathological evaluation are of great significance for improving patient prognosis. End...Colorectal cancer (CRC) is one of the most malignant tumors with high morbidity and mortality worldwide. Early diagnosis and accurate pathological evaluation are of great significance for improving patient prognosis. Endoscopic resection is the main treatment for early CRC. Pathological parameters-such as margin status, lymphatic vascular invasion (LVI), tumor grade, depth of submucosal invasion and tumor budding are the key to determine whether curative resection is achieved. At present, the measurement method of submucosal invasion depth of pT1 CRC is controversial. Submucosal invasion depth measurement adopts different measurement methods for pedunculated and sessile lesions, mainly including measurement from the surface of the lesion or the lower edge of the mucosal muscle layer. Especially for sessile lesions, due to different observers different understandings of the position of the mucosal muscle layer that can be identified or evaluated in the guidelines, observers may apply different criteria to evaluate the integrity of the mucosal muscle layer. In recent years, more and more evidence has shown that the association between the depth of submucosal invasion and the risk of lymph node metastasis may be overestimated, while other pathological parameters (such as LVI, high-grade tumor budding, and poorly differentiated components) have equal or more important significance in prognostic stratification. Therefore, the current measurement of the depth of submucosal invasion of pT1 CRC and its prognostic value are facing challenges, which deserve our attention and further exploration.
Dong RF, Ding Y, Li ZQ
… +3 more, Li L, Wang ZY, Zhang M
Zhonghua Bing Li Xue Za Zhi
· 2025 Oct · PMID 41073281
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To investigate the clinicopathological features, immunophenotype and molecule characteristics of EWSR1::CREM fusion malignant epithelioid neoplasm in soft tissue. The clinical and pathological data of 2 cases of EWSR1::...To investigate the clinicopathological features, immunophenotype and molecule characteristics of EWSR1::CREM fusion malignant epithelioid neoplasm in soft tissue. The clinical and pathological data of 2 cases of EWSR1::CREM fusion malignant epithelioid neoplasm in soft tissue diagnosed at the Department of Pathology, Beijing Jishuitan Hospital, Beijing, China from May 2023 to May 2024 were analyzed. Immunohistochemical study, fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) were performed. Relevant literature was reviewed. There were one male and one female patients, aged 35 and 29 years, respectively. The tumors developed in the somatic soft tissue, including calf and chest wall, and were 6.0 and 6.2 cm in size, respectively. The imaging studies suggested space-occupying lesions in muscle tissue. Case 1 did not involve the bone, while Case 2 showed fracture of the 8th rib. Microscopically, a fibrous pseudocapsule surrounded by lymphocytes and plasma cells was identified. The tumors were composed of small to medium-sized round and short spindle-shaped cells, showing nodular or sheet-like pattern. The tumor cells showed round nuclear outline, coarse chromatin with prominent nucleoli. Immunohistochemically, tumor cells showed diffuse positivity of ALK (D5F3), MUM1 and Syn, focal or patchy positivity of CKpan, EMA, S-100, NSE, WT-1 and SMA, and a high Ki-67 index (20%-30%). FISH demonstrated break-apart signals of EWSR1 gene in the 2 cases. NGS revealed EWSR1::CREM gene fusion. Case 2 showed an ATRX gene mutation. The two patients were free of recurrence or metastasis at the 10-month and 1-month follow-up, respectively. EWSR1::CREM fusion malignant epithelioid neoplasm is rare and lacks distinctive morphological and immunohistochemical features. FISH and NGS can help make a definitive diagnosis.