Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644423
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To investigate the characteristics of germline/somatic homologous recombination repair (HRR) gene variants in patients with hormone-sensitive prostate cancer (HSPC) and to analyze their associations with clinicopathologi...To investigate the characteristics of germline/somatic homologous recombination repair (HRR) gene variants in patients with hormone-sensitive prostate cancer (HSPC) and to analyze their associations with clinicopathological features. A retrospective study was conducted on 108 clinicopathologically high-risk HSPC patients diagnosed at the Peking University Third Hospital, Beijing, China from 2019 to 2022. Next generation sequencing (NGS) was used to simultaneously detect germline and somatic gene variants (32-98 genes, including at least 19 HRR-related genes). The HRR gene variation profiles were characterized. Their correlations with clinicopathological characteristics were analyzed. Genetic mutations were found in 23 patients, the age ranged from 36 to 83, with an age of 66(56,68)years. Germline HRR gene variants were detected in 4 (3.7%, 4/108) of the 108 patients, with BRCA2 being most common (1.9%, 2/108), followed by PALB2(0.9%)/RAD51D(0.9%). Somatic HRR gene variants were identified in 14 patients (13.0%, 14/108), involving 17 variants (affecting BRCA1/BRCA2/ATM/CDK12/FANCA). CDK12 was the most frequently mutated gene. Among these 14 patients, 3 had two different variants (either in different genes or two distinct variants in the same gene). In addition to the most common point-mutations and small insertions/deletions, copy number loss of BRCA1 was detected in 1 case. Non-HRR-related gene variants were identified in 5 patients. Among them, 3(2.8%) had TP53 variants (1 case had mixed acinar and ductal adenocarcinoma) and 2 had PTEN and KRAS mutations. Compared with the patients without gene variations, the ones with somatic HRR gene variations were younger, presented with higher serum total prostate-specific antigen (PSA) levels and more advanced tumor stage (all <0.05). No significant correlations were observed between somatic HRR gene variants and free PSA levels or grade groups (>0.05). HSPC exhibits high genetic heterogeneity. BRCA2 is the most common gene with germline variations, while CDK12 is the most frequently mutated gene in somatic HRR variants. This study suggests that HRR gene testing in patients with high-risk HSPC would help identify those with more aggressive clinical features and guide prognostication and potential targeted therapeutic strategies.
Zhonghua Bing Li Xue Za Zhi
· 2026 Feb · PMID 41644422
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Renal cell carcinoma with tumor thrombus is a subtype of urinary system malignancy with high clinical challenges. In recent years, with the development of pathological techniques and growing insights into molecular mecha...Renal cell carcinoma with tumor thrombus is a subtype of urinary system malignancy with high clinical challenges. In recent years, with the development of pathological techniques and growing insights into molecular mechanism research, significant progress has been made in the fields of molecular regulation of tumor thrombus formation, precise pathological assessment, and optimization of staging systems. This article focuses on the pathological features of renal cell carcinoma with tumor thrombus, systematically sorts out the application differences of the clinical staging and grading system of tumor thrombus, explores the impact of pathological assessment on clinical staging, treatment strategy selection and patient prognosis, and analyzes the formation mechanism of tumor thrombus from the perspectives of relevant molecular and cellular ecology.
He L, Wang Y, Song PK
… +3 more, Du L, Cui D, Liu DG
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490641
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To investigate the expression of cellular prion protein (PrPc) and tumor stem cell marker, CD44, in colorectal cancer, and to analyze their correlation with the metastasis and prognosis of colorectal cancer. A retrospec...To investigate the expression of cellular prion protein (PrPc) and tumor stem cell marker, CD44, in colorectal cancer, and to analyze their correlation with the metastasis and prognosis of colorectal cancer. A retrospective analysis was conducted on 212 colorectal cancer samples received by the Department of Pathology, Beijing Hospital, Beijing, China from August 2017 to February 2024. Immunohistochemical staining and immunofluorescence double staining were used to examine the expression of PrPc and CD44 in colorectal cancer. Their relationship with the clinical outcomes of colorectal cancer was analyzed. The expression of PrPc and CD44 was scored using the proportion of positive tumor cells and staining intensity, and the expression levels were divided into the 4 categories of negative, weakly positive, moderately positive, and strongly positive. The knockout of PrPc in colorectal cancer stem cells P6C was performed to assess cell growth and migration capacity, and to analyze the role of PrPc in tumor metastasis. The study cohort comprised 212 patients, including 130 males and 82 females, with an age range of 33 to 96 years and a mean age of (64.7±12.7) years. According to the tumor-node-metastasis (TNM) staging system, the cases were distributed as follows: 26 cases in stage T1, 61 cases in T2, 58 cases in T3, and 67 cases in T4. Regarding lymph node status, 151 patients were free from lymph node metastasis, while 61 patients had lymph node metastasis. In terms of distant metastasis, 136 patients had no distant metastasis, and 76 patients were diagnosed with distant metastasis. Histopathological grading revealed 1 case of well-differentiated adenocarcinoma, 166 cases of moderately-differentiated adenocarcinoma, and 45 cases of poorly-differentiated adenocarcinoma. The percentage of PrPc-expressing cells in advanced tumors (T4, 88.1%, 59/67), poorly-differentiated tumors (82.2%, 37/45), tumors with lymph node metastasis (86.9%, 53/61) or distant metastasis (85.5%, 65/76) was higher than that in early-stage or well-differentiated tumors. The co-expression of PrPc and CD44 in advanced tumors (86.6%, 58/67), poorly-differentiated tumors (80.0%, 36/45), and tumors with lymph node metastasis (85.3%, 52/61) or distant metastasis (84.2%, 64/76) was also higher. Statistical analysis showed that the expression of PrPc alone and the co-expression of PrPc/CD44 were significantly correlated with tumor differentiation, T staging, lymph node metastasis, and distant metastasis (<0.05). Western blot analysis showed that PrPc knockout suppressed the expression of N-cadherin and Twist, metastasis-related proteins. Scratch assay and Transwell assay demonstrated that PrPc knockout inhibited the invasion and migration of cancer stem cells. Continuous cell counting revealed that PrPc knockout impaired the proliferation of colorectal cancer stem cells (<0.01). The expression of PrPc may be related to the occurrence and progression of colorectal cancer. It thus can serve as an indicator of tumor invasion, metastasis and prognosis. The knockout of PrPc inhibits growth and migration of tumor stem cells, revealing that PrPc may have the ability to promote the invasion and metastasis of colorectal cancer.
Hou XY, Qi XL, Zhang N
… +7 more, Yao ZG, Wang LM, Gao M, Xiong YL, Duan ZJ, Zhao LH, Teng LH
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490640
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To investigate the clinicopathological features, immunophenotype, molecular genetic characteristics, and prognosis of clear cell meningioma (CCM). Seventeen cases with diagnosed of CCM from four hospitals [Xuanwu Hospit...To investigate the clinicopathological features, immunophenotype, molecular genetic characteristics, and prognosis of clear cell meningioma (CCM). Seventeen cases with diagnosed of CCM from four hospitals [Xuanwu Hospital (6 cases), Sanbo Brain Hospital (3 cases), Beijing Children's Hospital (4 cases) Affiliated with Capital Medical University; Provincial Hospital Affiliated to Shandong First Medical University (4 cases)], from August 2017 to April 2025, were analyzed. All specimens of CCM cases were H&E stained, followed by immunohistochemistry (IHC), next-generation sequencing (NGS), and DNA methylation profiling. Clinical follow-up and prognostic analysis were performed. The cohort included six males and eleven females, with a median age of 11 (6, 44) years; 10 were pediatric patients, 7 were adult patients. None had neurofibromatosis type 2. Tumor locations included spinal canal (=5), cerebellopontine angle (=4), middle/posterior fossa (=4), petroclival region (=3), and jugular foramen (=1). Histologically, tumors showed sheets of polygonal cells with clear glycogen-rich cytoplasm, round/oval nuclei with inconspicuous nucleoli, prominent perivascular and interstitial hyalinized collagen proliferation, and scattered lymphoplasmacytic infiltrates. No other meningioma subtypes were identified (17/17). IHC showed variable expression of EMA, vimentin, SSTR2, and PR, with universal loss of SMARCE1 nuclear expression. The median Ki-67 index was 6%. NGS revealed no NF2 alterations (0/10), while SMARCE1 mutations were detected in 9/10 of cases, including: 2 sites with splice-site mutations, 2 sites with nonsense mutations and 3 sites with frameshift mutations. DNA methylation unsupervised clustering demonstrated distinct profiles separating CCMs (8/33) from other meningiomas (25/33). Among 14 patients with follow-up (median 32 months, range 2-145 months), recurrence occurred in 6 cases and death in 1 case; all recurrence/death cases were pediatric patients. CCM patients had significantly higher recurrence/progression risk compared with WHO grades 1 and 2 meningiomas (=3.863, 95%: 1.435-10.401,=0.02), with earlier recurrence. High Ki-67 index (≥10%) was associated with increased risk of recurrence (<0.01). CCMs exhibit unique age distribution, anatomical predilection, histopathological changes, immunophenotype (SMARCE1 loss), and molecular profile (SMARCE1 mutations, distinct methylation signature). They demonstrate aggressive behavior, particularly in pediatric patients and cases with high proliferative activity, warranting close clinical surveillance and consideration of adjuvant therapy.
Qin Q, Guo LA, Luo T
… +6 more, Wang DD, Chen L, Teng LH, Lu DH, Yao XH, Piao YS
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490639
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To investigate the clinical, radiologic, pathological and molecular genetic features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY). A retrospective analysis was performed on fourteen PLNTY cases,...To investigate the clinical, radiologic, pathological and molecular genetic features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY). A retrospective analysis was performed on fourteen PLNTY cases, diagnosed at the Department of Pathology, Xuanwu Hospital, Capital Medical University, from August 2018 to December 2024. The clinical, radiologic, prognostic, histopathological, molecular genetic features, and DNA methylation clustering were analyzed. Among the 14 patients (10 males, 4 females), the age range was 8-34 years, with a median age of 21 (14, 29) years. The patient's major, initial clinical symptom was epilepsy (13/14). Among 9 MRI exanimated cases, 4 showed cystic-solid abnormal signals, and 5 appeared as solid masses. Most were hypointense on T1 and hyperintense on T2. Five cases had enhancement, with no obvious diffusion restriction on DWI. Among 5 CT examined cases, 4 showed high density, and 1 showed low density. The characteristic histopathologic features of the tumor cells were oligodendroglioma-like, spindle, pleomorphic and associated with foci of calcifications. GFAP and Olig2 were expressed in tumor cells in all 14 cases (14/14). Neuronal markers (NeuN, NF) were negative in 13/13 cases. CD34 showed diffuse strong positivity in all cases (14/14). BRAF V600E was positive in 8/11 cases. Thirteen cases (13/13) harbored mitogen-activated protein kinase (MAPK) pathway alterations, including BRAF (10/13) and FGFR2/3 (3/13) gene mutations. In 7 PLNTY cases, t-SNE cluster analysis of DNA methylation profiles showed clustering with ganglioglioma, PLNTY, and pilocytic astrocytoma. Until November 2025, 13 patients have been seizure-free postoperatively, and all 14 patients showed no tumor progression or recurrence. PLNTY usually occurs in adolescents and is associated with epilepsy. Its diagnosis necessitates a combination of clinical, histopathological, and molecular genetic alterations. In molecular level, PLNTY exhibits alterations in the MAPK pathway; while its DNA methylation profile demonstrates diversity. Most patients achieved seizure-free outcomes postoperatively, indicating a favorable prognosis.
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490638
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To investigate the clinicopathological characteristics of nodular fasciitis (NF) in children. Twenty-four cases of pediatric NF (including four cases of cranial fasciitis and one case of intravascular fasciitis) diagnos...To investigate the clinicopathological characteristics of nodular fasciitis (NF) in children. Twenty-four cases of pediatric NF (including four cases of cranial fasciitis and one case of intravascular fasciitis) diagnosed at the Department of Pathology of Henan Children's Hospital from January 2013 to February 2025 were collected. Their clinical features and histological characteristics were retrospectively analyzed. Immunophenotyping was performed using the EnVision method, USP6 gene rearrangement was detected by fluorescence in situ hybridization (FISH), and follow-up information was obtained. There were 17 male and 7 female patients. The median age was 5.0 (2.0, 8.5) years (interquartile range, 2.0-8.5). Sixteen cases of NF were identified in the head and neck. Superficial masses presented as gradually enlarged or persistence lesions, while a mesenteric mass presented with abdominal pain. No definite history of trauma was reported. Microscopically, the lesions showed diverse morphologies. Most lesions were ill-defined. The tumor cells were spindle-shaped fibroblasts/myofibroblasts within a myxoid stroma, arranged in a loosely woven pattern, and accompanied by extravasated red blood cells. Nearly half of the cases showed prominent collagen proliferation. Other uncommon morphological features included densely packed tumor cells, arranged in a woven pattern, and stroma with abundant foamy cells, dense inflammatory infiltrate, or multinucleated giant cells. Immunohistochemical staining was positive for SMA (24/24), Caldesmon (23/24), and Calponin (22/24). FISH analysis for USP6 rearrangement was positive in 22 of 24 cases; one case of decalcified specimen showed no signals, and the single case of intravascular fasciitis was negative. Follow-up data were available for 20 cases, and none of the patients experienced recurrence after complete surgical excision. Nodular fasciitis in children predominantly affects the head and neck of preschool-aged children. The lesion exhibits diverse histological features, and demonstrates a high positive rate for USP6 rearrangement by FISH. The prognosis is excellent following complete surgical excision.
Han XP, Zhao ML, Huang H
… +9 more, Wang JL, Ma J, He Q, Shen P, Chen JF, Jin XT, Cheng JJ, Zhang ZD, Yin MZ
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490637
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To investigate the clinicopathological characteristics of pediatric Ewing sarcoma in the rare sites. Seven surgical resection specimens and one consultation case diagnosed at Shanghai Children's Medical Center (4 cases)...To investigate the clinicopathological characteristics of pediatric Ewing sarcoma in the rare sites. Seven surgical resection specimens and one consultation case diagnosed at Shanghai Children's Medical Center (4 cases), Shanghai Jiaotong University, Shanghai; Zhejiang Children's Hospital (2 cases), Hangzhou and Jiangxi Children's Hospital (2 cases), Nanchang, China from January 2019 to June 2024 were collected. The tissues were subject to histological examination and immunohistochemistry using EnVision system. The fluorescence in situ hybridizations (FISH) for EWSR1::FLI1 gene fusion and EWSR1 gene-breakapart were performed. The paraffin sections were used for next-generation sequencing (NGS). There were 8 pediatric patients (4 boys and 4 girls). Their ages ranged from 7 to 14 years, with a median age of 12.5 (10.0, 13.5) years. The tumors were located in the right submandibular gland (1 case), tail of the pancreas (1 case), prostate (1 case), small intestine (1 case), nasal vestibule (1 case), adrenal gland (1 case), and right kidney (2 cases). Histologically, the tumors showed relatively uniform small round cells with an invasive growth pattern. The adamantinoma-like Ewing sarcoma occurring in the right submandibular gland had obvious characteristics of epithelial differentiation. Immunohistochemistry showed diffuse positivity for CD99, NKX2.2 in most tumors, partial or diffuse positive for epithelial and neuroendocrine markers in some cases, as well as complete negativity for desmin in all tumors. Molecular genetic study showed EWSR1 gene translocation and FUS::FLI1 gene fusion using FISH and NGS. All cases underwent chemotherapy or adjuvant radiotherapy. The follow-up for 10 to 44 months found that two patients were dead, one had recurrence and the others were free of disease. Extraskeletal Ewing sarcoma is rare. Careful histologic evaluation supplemented by immunophenotyping and molecular studies facilitates its diagnosis and differential diagnosis.
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490636
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To investigate the clinicopathological and molecular genetic characteristics of uterine leiomyosarcoma. A retrospective study was performed on twenty-four patients diagnosed with uterine leiomyosarcoma, at Peking Univer...To investigate the clinicopathological and molecular genetic characteristics of uterine leiomyosarcoma. A retrospective study was performed on twenty-four patients diagnosed with uterine leiomyosarcoma, at Peking University, Third Hospital, from January 2023 to July 2024. The study aimed to analyze the clinicopathological characteristics of uterine leiomyosarcoma using immunohistochemistry and next generation sequence to detect the molecular genetic alterations. Among the twenty-four cases, patient's age ranged from 29 to 74 years, with a median age of 45.5 (37.5, 49.3) years. Tumor size ranged from 6 to 20 cm, with an average size of 11 cm. Before surgery, sixteen patients had received hormone therapy, traditional Chinese medicine, health supplements, and/or oxytocin during surgery. Among these sixteen cases, eight cases showed morphological changes of the tumor cells, with the nature of necrosis being difficult to characterize, posing diagnostic challenges. Immunohistochemical analysis revealed positive expression of smooth muscle markers in all 24 cases. A mutant p53 expression pattern was observed in 14 cases, while loss of Rb expression was noted in 17 cases. Loss of ATRX and PTEN expression was detected in 13 and 11 cases, respectively.All twenty-four cases demonstrated microsatellite stability. Twenty-three cases showed a low tumor mutational burden (TMB), while one case showed high TMB. All cases showed variations of copy number and gene mutations involving multiple genes. The most common molecular genetic aberrations were loss of copy number or mutation in TP53 and RB1. Simultaneous genetic aberrations in both TP53 and RB1 were identified in fifteen cases. Furthermore, eleven cases showed copy number loss of BRCA2 and one case showed a missense mutation of BRCA2. Twenty-one cases revealed frequent copy number variations in homologous recombination repair-related genes, including FANCA, FANCM, RAD51B, BARD1, FANCE, ATM, CHEK2 etc. Thirteen cases showed loss of ATRX protein expression. Uterine leiomyosarcoma is characterized by multiple copy number variations and gene mutations, most frequently involving TP53 and RB1. Additional common molecular features include copy number variations of homologous recombination repair-related genes, ATRX protein expression loss, low tumor mutational burden, and microsatellite stability. Secondary morphological changes in uterine leiomyosarcomas associated with hormone therapy pose significant diagnostic challenges. Next generation sequencing can provide valuable evidence for the diagnosis of morphologically challenging cases of leiomyosarcoma in clinical practice.
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490635
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To investigate the expression of anaplastic lymphoma kinase (ALK) in malignant melanoma and analyze its clinicopathological and molecular features. Eighty-seven malignant melanomas that were surgically resected at the F...To investigate the expression of anaplastic lymphoma kinase (ALK) in malignant melanoma and analyze its clinicopathological and molecular features. Eighty-seven malignant melanomas that were surgically resected at the First Affiliated Hospital, Zhejiang University School of Medicine between January 2015 and December 2019 were collected. Immunohistochemical staining was performed to evaluate ALK expression. Positive cases were further analyzed using clinical, pathological, and molecular testing data. Relevant literature was systematically reviewed, and follow-up was conducted. Three cases showed ALK-positive expression. They were all in male patients, aged 52, 79, and 51 years, with tumors located in the left temporooccipital skin, maxillary gingiva, and left plantar skin, respectively. Cases 1 and 3 had a history of smoking and diabetes; case 2 had a history of alcohol use. Histologically, case 1 exhibited pagetoid spread with prominent lymphocytic infiltration; case 2 showed nodular growth with ulceration; while case 3, a recurrent lesion, was surrounded by abundant lymphocytes. All three cases displayed sheet-like proliferation of epithelioid or short spindle-shaped tumor cells, conspicuous nucleoli, and frequent mitoses. Marked pigmentation was observed in cases 1 and 3, but not in case 2. Fluorescence in situ hybridization (FISH) revealed ALK gene rearrangement in case 2, but not in cases 1 and 3. The nCounter analysis showed high expression of ALK exons 20-29 and intron 19 with low expression of exons 1-19 in cases 1 and 3, consistent with an alternative transcription initiation (ATI)-driven ALK expression pattern. In contrast, case 2 exhibited high expression of exons 20-29 but low expression of both exons 1-19 and intron 19, supporting an ALK fusion subtype. No mutations of KRAS, NRAS, BRAF, or PIK3CA were detected in any of the cases. Both ALK fusion and ATI-driven ALK expression patterns can present in malignant melanomas. Aberrant ALK activation suggests its potential role in molecular pathogenesis of malignant melanoma. Further investigation of ALK as a therapeutic target seems necessary.
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490634
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To investigate the clinicopathological characteristics of granulomatosis with polyangiitis (GPA) involving the nasal cavity and paranasal sinuses. Twenty-two cases of GPA involving the nasal cavity and paranasal sinuses...To investigate the clinicopathological characteristics of granulomatosis with polyangiitis (GPA) involving the nasal cavity and paranasal sinuses. Twenty-two cases of GPA involving the nasal cavity and paranasal sinuses, diagnosed at the Eye Ear, Nose and Throat Hospital of Fudan University from June 2018 to January 2025, were retrospectively reviewed. Clinical data, pathological features, treatment, and clinical outcomes were analyzed. Relevant literature was also reviewed to summarize diagnostic and differential diagnostic points. Among the 22 patients, 13 were male and 9 were female, with median age of 43.5 (31.0, 55.0) years, ranging 14-73 years. Local sinonasal symptoms were present in 95.5% (21/22) of the cases, while 63.6% (14/22) of the cases involved adjacent regions, and 9.1% (2/22) had fever. Excluding one case with unknown systemic involvement, 17 cases were localized GPA, while 4 were systemic GPA. All cases showed mixed acute and chronic inflammatory cell infiltration. Granuloma formation was observed in 86.4% (19/22) of the cases, including 14 cases of necrotizing granulomas and 5 cases of non-necrotizing granulomas. Vasculitis involving small vessels was seen in 95.5% (21/22) of the cases. Necrosis was identified in 68.2% (15/22) of the cases, comprising geographic necrosis (8 cases) and focal necrosis (7 cases). Fibrous tissue hyperplasia was present in 40.9% (9/22) of the cases. Among the 17 cases with localized GPA, vasculitis was observed in 16 cases (16/17). Granuloma formation was identified in 14 cases (14/17), of which 11 had necrotizing granulomas and 3 had non-necrotizing granulomas. All 4 systemic GPA cases exhibited small-vessel vasculitis, with 2 cases of necrotizing and 2 cases of non-necrotizing granulomas. Seven cases had previously undergone biopsy at other institutions but were not correctly diagnosed. The initial diagnoses included sinusitis (5 cases), tuberculosis (1 case), and low-grade mesenchymal tumor (1 case). Anti-neutrophil cytoplasmic antibodies (ANCA) were tested in 18 cases. Seventeen cases (17/18) were positive for anti-proteinase 3 antibodies (PR3-ANCA). Among them, 15 were also positive for cytoplasmic ANCA (c-ANCA), 2 were positive for PR3-ANCA but negative for c-ANCA, and 1 was positive for anti-myeloperoxidase antibodies (MPO-ANCA) and perinuclear ANCA (p-ANCA). Detailed treatment information was available for 17 cases. The therapeutic regimen was primarily based on glucocorticoids, supplemented with rituximab or cyclophosphamide in some cases. The median follow-up was 38 months, with 2 deaths identified by the end of the follow-up. The 1-year and 3-year overall survival rates were 94% and 84%, respectively. Sinonasal GPA primarily occurs in young and middleaged adults, typically presenting with nonspecific clinical symptoms. Its characteristic pathological findings include necrotizing granulomas and vasculitis. However, in most cases, only small biopsy specimens are available for histopathological evaluation, making it challenging to identify all diagnostic features microscopically. Therefore, a definitive diagnosis should be made by comprehensively evaluating clinical manifestations, radiological findings, histopathological characteristics, and serological testing.
Wang GN, Liu FY, Zhang YP
… +4 more, Zhao WG, Zhang DD, Lu SS, Li WC
Zhonghua Bing Li Xue Za Zhi
· 2026 Jan · PMID 41490633
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To investigate the clinicopathological features and molecular genetics of large B-cell lymphoma with IRF4 gene rearrangements (LBL-IRF4) involving the head and neck region in adults. The clinicopathological and molecula...To investigate the clinicopathological features and molecular genetics of large B-cell lymphoma with IRF4 gene rearrangements (LBL-IRF4) involving the head and neck region in adults. The clinicopathological and molecular genetics features of LBL-IRF4 in adults diagnosed at the First Affiliated Hospital of Zhengzhou University between January 2016 and December 2024 were analyzed using immunohistochemistry and fluorescence in situ hybridization (FISH). Clinical information was also collected and analyzed. Seventeen cases were reviewed. There were 5 male and 12 female patients, aged 19 to 68 years, with media age of 42.0(21.0,61.5) years. All patients presented with head and neck lesions, especially Waldeyer's ring and cervical lymphadenopathy (15/17). No bone marrow involvement was detected in any of the patients while most of them were at the Ann Arbor stage Ⅰ-Ⅱ (16/17). Morphologically, 11 cases had a diffuse growth pattern, and 6 cases had a follicular/diffuse growth pattern, exhibited medium to large lymphoid cells. Two cases showed a "starry sky" appearance, and 4 cases exhibited coagulative necrosis. Tumor cells were positive for CD20 and CD79a. CD10 was positive in 13 cases (13/17) while bcl-2 was positive in 12 cases (12/17). Bcl-6 and MUM-1 were positive in all cases. CD5 was expressed in 5 cases (5/17). All cases were EBV-negative (0/16). IRF4 rearrangement was identified in all cases. No breaks in MYC or bcl-2 were detected in any of the cases. Bcl-6 rearrangements were found in 8 cases (8/17) by FISH. All 17 patients received chemotherapy after the diagnosis. Sixteen patients at follow up were alive (1 case was lost to follow-up). LBL-IRF4 involving the head and neck in adults is not uncommon. Adult cases mimic their pediatric counterparts, showing similar morphological and immunohistochemical features. Some cases are CD5 positive and harbor bcl-6-rearrangement. Overall, it carries a favorable prognosis. Routine testing of IRF4 rearrangement is recommended for cases with the following characteristics: in the head and neck region, morphologically high-grade follicular lymphoma or diffuse large B-cell lymphoma with strong MUM-1 expression irrespective of patient age.