Liu ML, Wu SF, Liu YY
… +5 more, Zhang HX, Zhao DC, Huang X, Lian J, Zeng X
Zhonghua Bing Li Xue Za Zhi
· 2026 Mar · PMID 41795985
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To investigate FGFR1 mRNA expression and gene characteristics in breast cancer tissue. Breast cancer samples from 45 female patients (10 HER2-positive, 15 triple-negative and 20 HR-positive/HER2-negative cases) were col...To investigate FGFR1 mRNA expression and gene characteristics in breast cancer tissue. Breast cancer samples from 45 female patients (10 HER2-positive, 15 triple-negative and 20 HR-positive/HER2-negative cases) were collected from Peking Union Medical College Hospital between December 2022 and January 2024. FGFR1 mRNA expression was identified using reverse transcription droplet digital PCR, and the FGFR1 gene characteristics was analyzed from 30 samples by fluorescence in situ hybridization. In the group of HER2-positive, 2 cases (2/10) of high FGFR1 mRNA expression and one case (1/7) of high FGFR1 gene amplification were found. Five tumors (5/15) with high FGFR1 mRNA expression, one (1/10) with gene amplification and one (1/10) with low-level amplification of FGFR gene were identified in triple-negative breast cancer. Among HR-positive/HER2-negative samples, high FGFR1 mRNA expressions were confirmed in 4 cases (4/20), with no FGFR1 gene amplification (0/13). Additionally, 3 cases (3/10) showed high FGFR1 mRNA expression in HER2-low expression (IHC 1+and IHC 2+/FISH-) samples. High FGFR1 mRNA expression is observed across different molecular subtypes of breast cancer. High-level FGFR1 gene amplification is uncommonly detected; therefore, further studies with large amount samples are required.
Zhonghua Bing Li Xue Za Zhi
· 2026 Mar · PMID 41795984
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The traditional paradigm of pathology diagnosis faces challenges like data fragmentation and inefficiency in the era of big data and artificial intelligence, necessitating a digital transformation built upon high-quality...The traditional paradigm of pathology diagnosis faces challenges like data fragmentation and inefficiency in the era of big data and artificial intelligence, necessitating a digital transformation built upon high-quality, standardized databases. This article reviews global efforts in digital pathology database construction and details our team's pilot practice in developing a specialized breast pathology database. We share our approach to case enrollment, systematic data collection, and standardized slide digitization. Key issues, including data schema design, multi-center integration, scanning protocols, and collaborative models, are discussed to inspire industry-wide standardization and support the sustainable development of digital pathology and artificial intelligence in China.
Zhonghua Bing Li Xue Za Zhi
· 2026 Mar · PMID 41795983
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Clinical pathology, as a core discipline of medical diagnosis, is experiencing unprecedented changes and challenges, with the growing acceptance of artificial intelligence in medicine, especially the introduction of foun...Clinical pathology, as a core discipline of medical diagnosis, is experiencing unprecedented changes and challenges, with the growing acceptance of artificial intelligence in medicine, especially the introduction of foundation models in pathology. The emergence of these intelligent models will change the workflow of pathology, change the learning and diagnostic mode of pathologists, and also put forward new requirements and provide new paths for the training of clinical pathology residents. In this paper, the current status of the application of artificial intelligence in clinical pathology, its impact on residency training, the construction of the new paradigm, and the future development, will be discussed in this paper.
Zhonghua Bing Li Xue Za Zhi
· 2026 Mar · PMID 41795982
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In breast pathology, tumor protein 63 (p63) is a highly sensitive and specific immunohistochemical marker for myoepithelial cells. It plays a crucial role in distinguishing benign from malignant diseases and in different...In breast pathology, tumor protein 63 (p63) is a highly sensitive and specific immunohistochemical marker for myoepithelial cells. It plays a crucial role in distinguishing benign from malignant diseases and in differentiating in situ carcinoma from invasive carcinoma. Aberrant p63 expression has also been increasingly recognized as a subject of clinical and diagnostic interest. A comprehensive understanding of the biological characteristics of p63, appropriate selection of antibodies, and its variable expression patterns across different breast diseases is essential for the accurate application and interpretation of p63 immunohistochemistry, enabling the avoidance of diagnostic pitfalls, minimizing misinterpretations, and ultimately supporting more precise pathological diagnosis.
Wu SF, Wang PY, Liu ML
… +5 more, Wang J, Zhang YH, Wang YD, Zhang HX, Zeng X
Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644430
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To investigate the characteristics of human epidermal growth factor receptor 2 (HER2) protein expression and gene status in uterine serous carcinoma (USC) patients. A total of 36 formalin-fixed and paraffin-embedded USC...To investigate the characteristics of human epidermal growth factor receptor 2 (HER2) protein expression and gene status in uterine serous carcinoma (USC) patients. A total of 36 formalin-fixed and paraffin-embedded USC tissue specimens obtained between 2021 and 2022 in Peking Union Medical College Hospital were collected. The expression of HER2 protein and the gene status were detected by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) respectively, and the results were interpreted according to the 2020 International Society of Gynecological Pathologists recommendations. Among the 36 cases, 11, 8, 12 and 5 cases showed HER2 IHC scores of 0, 1+, 2+, and 3+, respectively. All IHC 3+cases were pure USC. Out of 25 samples with different level of HER2 expression (IHC 1+, IHC 2+and 3+), 16 (64.0%) tumors with heterogeneous stain, which mainly affects the diseases with IHC 2+ (10/12) and IHC 3+ (3/5) lesions. Ten pure USC cases (27.8%, 10/36), involving HER2 IHC 0, IHC 1+, IHC 2+and IHC 3+tumors, harbored HER2 gene amplification by FISH (1, 1, 3 and 5 cases, respectively). All amplified cases exhibited a HER2/CEP17 ratio≥2.0. In addition, the incidences of chromosome 17 (CEP17) polysomy and monosomy were 25.0% (9/36) and 19.4% (7/36), respectively. Most of USC tumors exhibit intratumoral heterogeneity in HER2 IHC stain. Both HER2 IHC positive (3+) and FISH positive occur exclusively in pure USC tumors. HER2 gene amplification can be observed in any HER2 IHC levels.
Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644429
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To investigate the clinical and pathological characteristics of massive perivillous fibrin deposition (MPFD) in twin placentas. A retrospective analysis was performed on 11 cases of MPFD in twin pregnancies diagnosed at...To investigate the clinical and pathological characteristics of massive perivillous fibrin deposition (MPFD) in twin placentas. A retrospective analysis was performed on 11 cases of MPFD in twin pregnancies diagnosed at the Obstetrics and Gynecology Hospital Affiliated to Fudan University between January 2018 and December 2024. Maternal and fetal clinical features, as well as placental pathological findings, were summarized. MPFD cases accounted for 2.8% (11/390) of all twin placentas submitted for pathological examination during the study period. Clinical analysis revealed that 6/11 cases were conceived via in vitro fertilization-embryo transfer; 10/11 women had a history of spontaneous abortion, with 3/11 meeting the criteria for adverse obstetric history (≥3 spontaneous abortions or perinatal deaths). Prenatal abnormalities in fetuses primarily included intrauterine growth restriction, intrauterine distress, and intrauterine death. Placental pathological examination showed generally low placental weight, advanced maturation in most cases, and more than 25% of villi surrounded by abundant amorphous eosinophilic fibrinoid material, leading to complete obstruction of the intervillous spaces. In one case of recurrent MPFD, only one placenta in a dichorionic diamniotic twin pregnancy was affected, with the corresponding fetus exhibiting intrauterine growth restriction. The rate of adverse obstetric outcomes was 10/11, including miscarriage (3/11), single or twin intrauterine death (3/11), and preterm birth (5/11). Follow-up for over 4-72 months indicated that one case was lost to follow-up, while the remaining mothers recovered well and live-born infants demonstrated normal development. MPFD can occur in twin pregnancies and may manifest as discordant involvement between co-twins, primarily presenting as adverse pregnancy outcomes such as fetal growth restriction. MPFD has a tendency for recurrence, and clinicians should remain vigilant for its consequence in high-risk twin pregnancies. Placental pathological examination plays a critical role in confirming diagnosis and guiding subsequent pregnancy management.
Qin XF, Li L, Dong RF
… +5 more, Pan KK, Zhang M, Zhao L, Zhang TW, Ding Y
Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644428
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To investigate the clinicopathological features, molecular characteristics and differential diagnosis of extraskeletal myxoid chondrosarcoma (EMC). A total of 16 cases of EMC diagnosed from January 2016 to February 2025...To investigate the clinicopathological features, molecular characteristics and differential diagnosis of extraskeletal myxoid chondrosarcoma (EMC). A total of 16 cases of EMC diagnosed from January 2016 to February 2025 were collected from Luoyang Orthopedic-Traumatological Hospital of Henan Province (Henan Provincial Orthopedic Hospital, 3 cases) and Beijing Jishuitan Hospital, Capital Medical University (13 cases) for clinicopathological, immunohistochemical, fluorescence in situ hybridization (FISH) and next generation sequencing analyses and follow-up. There were 11 males and 5 females, with a median age of 51(30, 73) years. The tumor sites included extremities (=12), trunk (=3), and sacrum (=1). Histologically, EMC showed two distinct subtypes. Fourteen cases (14/16) were classic subtype with pale-blue myxoid or chondromyxoid matrix. The cells characteristically interconnected with one another to form cords, small clusters, and complex trabecular or cribriform patterns. The tumor cells were round, ovoid, short spindle or star-shaped; some may be rhabdoid with eosinophilic cytoplasm and eccentrically placed nuclei. Two cases were cellular subtype, demonstrating solid sheets of epithelioid cells with minimal intervening myxoid matrix, large vesicular nuclei, prominent nucleoli, and brisk mitotic activity. Immunohistochemistry showed that the cells diffusely or partially expressed vimentin, CD117, Syn, INSM-1, CD34, SMA and NSE, but were negative for pan-keratin (AE1/AE3), S-100, calponin, desmin and brachyury. INI1 expression was not deleted. The proliferation index of Ki-67 ranged from 2% to 15% in the classic subtype and 5% in the cellular subtype. NR4A3 gene rearrangement was detected by FISH in 15 cases (15/16), and EWSR1::NR4A3 fusion was confirmed by next-generation sequencing in 4 cases. Follow-up data were available in 14 patients (1-104 months), of whom 7 (7/14) developed local recurrence and 2 (2/14) developed distant metastases. EMC is a rare mesenchymal malignancy that arises not only in soft tissues but also in bone. The predominant histological subtype is classical EMC, with a minority presenting as cell-rich EMC. FISH detection of NR4A3 gene rearrangements provides a crucial value for the diagnosis. It needs to be differentiated from myoepithelial tumors, chordomas and myxoid liposarcomas.
Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644427
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To investigate the clinicopathological and prognostic features, immunophenotypic characteristics, and key points of differential diagnosis of multifocal EBV-associated smooth muscle tumors (EBV-SMT). The clinicopatholog...To investigate the clinicopathological and prognostic features, immunophenotypic characteristics, and key points of differential diagnosis of multifocal EBV-associated smooth muscle tumors (EBV-SMT). The clinicopathological data of 7 cases of EBV-SMT diagnosed in Sun Yat-sen University Cancer Center from June 2020 to March 2025 were retrospectively analyzed. Immunohistochemical staining, Epstein-Barr virus-encoded small RNAs (EBERs) in situ hybridization, and next-generation sequencing were performed, and the relevant literature was reviewed. All 7 patients were children or young adults, with a median age of 7 (2, 33) years. Five patients were immunocompromised due to congenital immune deficiency, autoimmune disease or post-transplant treatment. All the 7 cases presented with multifocal lesions, involving the brain, liver, lungs and adrenal glands. Histologically, 3 cases exhibited a classic spindle cell leiomyoma-like morphology, while the other 4 showed a more primitive round cell morphology resembling smooth muscle cells. All cases expressed smooth muscle markers, such as SMA, calponin, HHF35, h-caldesmon, and desmin, among others. The proliferation index of Ki-67 ranged from 1% to 30%. All cases were diffusely and strongly positive for EBERs by in situ hybridization. Next-generation sequencing identified an ITK gene deletion in one case (case 2). During a follow-up period of 1 to 44 months after diagnosis, 2 patients died, while the remaining 5 survived. EBV-associated smooth muscle tumors are more likely to occur in children or young adults with immune deficiency, often manifesting as multifocal lesions in different organs. Accurate diagnosis relies on a comprehensive assessment incorporating clinical history, histopathological features, and findings of immunohistochemistry and EBERs in situ hybridization.
Yang BF, Fu LB, Zhang N
… +6 more, Yao XF, Zhang M, Jia C, Guan XX, Wang JW, He LJ
Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644426
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To study the clinical and pathological features of anaplastic sarcoma of the kidney(ASK) in children, and to explore its molecular profiles and differential diagnosis. Five cases of pediatric ASK diagnosed at Beijing Ch...To study the clinical and pathological features of anaplastic sarcoma of the kidney(ASK) in children, and to explore its molecular profiles and differential diagnosis. Five cases of pediatric ASK diagnosed at Beijing Children's Hospital, Beijing, China from January 2018 to June 2025 were collected. The clinical, histological, and immunohistochemical features were analyzed. Three cases were subjected to TP53 detection using fluorescent in-situ hybridization (FISH), and DICER1 and TP53 detection using PCR amplification and Sanger sequencing. There were 3 males and 2 females. The patients' ages ranged from 1.6 years to 17.7 yeas, with an age of 8.2 (3.8, 12.7). A renal mass was accidentally found in 1 case, and abdominal pain with hematuria was present in 4 cases. Four cases were presented as a unilateral tumor, while one as bilateral tumors. The radiographic features of ASK were cystic and solid masses. The tumors were staged as stage Ⅰ, Ⅴ, Ⅳ, Ⅱ and Ⅱ, respectively. Histologically, all tumors showd both cystic and solid areas, spindle cell components with anaplastic changes and frequent atypical mitotic figures, arranged in a fascicular pattern. Chondroid differentiation and rhabdomyoblasts features were present. Multiloculated cysts showed cystic nephroma-like foci, and subepithelial primitive cells with cambium-like layer appearance. Immunohistochemistry showed that desmin was positive in 3 of the 5 cases, and myogenin and MyoD1 were positive in 2 of the 5 cases. p53 was overexpressed(mutated type) in 2 cases, loss of expression(null type) in 1 case and wild type in 1 case. Ki-67 positive rates were 30%-90%. Three cases with sequencing information harbored DICER-1 mutations(somatic and truncating mutations) and loss of TP53 gene. One patient with bilateral tumors died during follow-up. Another patient had distant metastasis, while the others had no recurrence or metastasis. ASK in children is a rare DICER1-related tumor, with distinct histologic features and biological behavior. The differential diagnosis includes anaplastic Wilms tumor, clear cell sarcoma of the kidney, etc. Integration of clinical manifestations, histology, immunohistochemistry, and molecular studies may be required to render correct diagnosis.
Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644425
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To investigate the clinicopathological features and molecular genetic alterations of the YWHAE-rearranged clear cell sarcoma of the kidney (CCSK), and to improve the diagnostic and differential diagnostic accuracy of the...To investigate the clinicopathological features and molecular genetic alterations of the YWHAE-rearranged clear cell sarcoma of the kidney (CCSK), and to improve the diagnostic and differential diagnostic accuracy of the subtype of renal clear cell sarcoma. A retrospective analysis was performed on 7 cases of YWHAE-rearranged CCSK diagnosed and treated at the Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China and the Children's Hospital of Fudan University, Shanghai, China between January 2018 and October 2023.Their clinicopathological characteristics were analyzed using HE staining, immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). Patient survival was assessed based on follow-up data. Of the 7 patients with YWHAE-rearranged CCSK, 4 were male and 3 were female, aged 1.0-7.0 years, with an age of 2.0 (1.6, 6.0) years. The primary symptom was predominantly an abdominal mass (6 cases), with 1 case presented with abdominal pain and vomiting. All tumors were unilateral (left side in 3 cases, and right side in 4 cases). Preoperative imaging suspected Wilms tumor in all cases. Histologically, the classic type (4/7) and spindle cell type (2/7) were predominant while one case showed a mixed classic and epithelioid pattern. Vascular invasion was present in 3 cases, and lymph node metastasis was identified in 1 case. IHC results showed diffuse positivity for cyclin D1, bcl-2, and SATB2 in all cases, with varying expression of BCOR. FISH with break-apart probes analyses confirmed YWHAE (17p13) gene fusions in all cases. NGS performed in 2 cases revealed the presence of YWHAE::NUTM2 fusions, accompanied by mutations in FBXW7 or CREBBP gene. There were 5 Stage-Ⅲ cases and 2 Stage-Ⅳ cases. Postoperative follow-up ranged from 20 to 69 months and showed 3 patients with metastasis or recurrence. One of them also developed chronic renal failure. YWHAE-rearranged CCSK exhibits morphological heterogeneity and aggressive behaviors. Definitive diagnosis relies on molecular testing (such as FISH or NGS), which is crucial for differential diagnosis and prognostic evaluation. This subtype of CCSK is commonly associated with advanced clinical stage and early metastasis/recurrence, highlighting the necessity for improving risk stratification and clinical management.
Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644424
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To investigate the clinicopathological features, immunophenotype, molecular characteristics and prognosis of acquired cystic disease-associated renal cell carcinoma (ACD-RCC). The clinicopathological data of four ACD-RC...To investigate the clinicopathological features, immunophenotype, molecular characteristics and prognosis of acquired cystic disease-associated renal cell carcinoma (ACD-RCC). The clinicopathological data of four ACD-RCC cases diagnosed at the Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China and one case at the Ningbo Clinical Pathology Diagnostic Center, Ningbo, China between 2018 and 2025 were collected. The clinical, histological, and immunohistochemical characteristics were analyzed. FISH and high-throughput DNA targeted next generation sequencing (NGS) were carried out. Follow-up was conducted with review of relevant literature. Among the five patients, four were male and one was female, aged 45-71 years. All patients had a history of chronic kidney disease (duration 9-30 years) and received dialysis treatment. Three cases occurred in the right kidney and two in the left kidney. All were single lesions with a maximum diameter of 2.0-15.0 cm. Grossly, the tumors showed a solid-cystic appearance. Histologically, various histological patterns were observed, including cystic (4 cases), tubular (4 cases), papillary (4 cases), solid (2 cases), cribriform (2 cases), and microcystic structures (1 case). Two cases were accompanied by tumor necrosis, and one case was accompanied by sarcomatoid differentiation. The tumor cells had abundant eosinophilic cytoplasm with intracytoplasmic vacuoles, conspicuous nucleoli, and high nuclear grades (World Health Organization/International Society of Urological Pathology nuclear grade 3 or 4). Two cases had focal, clear cytoplasm. Oxalate crystals were present in all tumors. In all cases, the surrounding renal parenchyma was atrophic with multiple cysts. The cysts in three cases were lined by single-or multiple-layered eosinophilic cells, which had abundant cytoplasm and visible nucleoli. Tumor cells in all five cases expressed PAX8, CD10 and P504s. Two cases partially expressed carbonic anhydrase Ⅸ(CAⅨ). Two cases focally expressed CK7, CD117, HMB45, Melan A, TFE3, TFEB, GATA3, 2SC and ALK were negative in all cases. FH, SDHB and SMARCB1 (INI1) proteins were not deficient. TFE3 gene rearrangement was not detected in two cases using FISH with break-apart probes. High-throughput DNA targeted NGS showed that one tumor had a KMT2C mutation, one had KMT2B, TSC1, SETD2 and TP53 mutations, one had an MTOR mutation, one had a TSC2 mutation, and one had an SETD2 mutation. The five cases were followed up for 6-70 months and had no recurrence or metastasis, except one case with local recurrence and retroperitoneal lymph node metastasis four years after the surgery. ACD-RCC is a rare renal cell carcinoma that occurs in patients with end-stage renal disease and has unique morphological features. It is often associated with favorable prognosis and alterations in genes related to the MTOR/TSC pathway or chromatin modification.