Juliellen Luiz da Cunha, Isabella Bezerra Araújo Cirilo, Ilan Hudson Gomes de Santana, Paulo Rogério Ferreti Bonan
{"title":"Vegetative pyodermatitis-pyostomatitis in a patient with Crohn's disease: a clinical case report.","authors":"Juliellen Luiz da Cunha, Isabella Bezerra Araújo Cirilo, Ilan Hudson Gomes de Santana, Paulo Rogério Ferreti Bonan","doi":"10.1186/s13000-025-01681-8","DOIUrl":"10.1186/s13000-025-01681-8","url":null,"abstract":"<p><strong>Introduction: </strong>Pyodermatitis-pyostomatitis vegetans (PPV) is a rare inflammatory mucocutaneous dermatosis of unknown etiology. It is characterized by the appearance of vesicles, pustules, vegetating plaques, and erythematous lesions, often associated with underlying inflammatory bowel diseases such as Crohn's disease.</p><p><strong>Objective: </strong>To report a case of vegetative pyostomatitis in a patient with Crohn's disease, focusing on the diagnostic process and therapeutic approach.</p><p><strong>Case report: </strong>A 47-year-old female patient, identified as AMSP, with a known diagnosis of Crohn's disease and a history of colostomy, presented with complaints of lesions affecting both the skin and oral mucosa. Dermatological examination revealed a well-defined, flat, round lesion with darkened borders in the right axillary region. Intraoral examination showed erythematous, net-like plaques along the lateral border of the tongue, accompanied by ulcerations and vesicles. An incisional biopsy of the tongue was performed. Histopathological analysis revealed a predominantly eosinophilic inflammatory infiltrate in the connective tissue and epithelial acantholysis. The clinical presentation, patient history, and histopathological findings led to the diagnosis of pyodermatitis-pyostomatitis vegetans. The patient was treated with topical 0.1% tacrolimus ointment applied twice daily for 15 days. Following this intervention, there was complete resolution of the lesions.</p><p><strong>Conclusion: </strong>Pyodermatitis-pyostomatitis vegetans is an uncommon condition that may serve as an oral and cutaneous manifestation of Crohn's disease. The presence of vegetating plaques on the skin and vesiculopustular lesions in the oral cavity should raise clinical suspicion. Histopathological examination via biopsy remains the gold standard for definitive diagnosis. Treatment is typically straightforward, with an excellent prognosis when managed appropriately.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"82"},"PeriodicalIF":2.4,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Total m6A RNA levels and VIRMA expression as potential diagnostic and prognostic markers in oral squamous cell carcinoma.","authors":"Kaori Shima, Yudai Shimojukkoku, Yasunobu Oku, Kanako Higashimoto, Takahiro Tsuchiyama, Yuka Kajiya, Miyako Kurihara-Shimomura, Tomonori Sasahira","doi":"10.1186/s13000-025-01678-3","DOIUrl":"10.1186/s13000-025-01678-3","url":null,"abstract":"<p><strong>Background: </strong>Oral squamous cell carcinoma (OSCC) is associated with poor prognosis due to extensive local invasiveness and lymph node metastasis, often leading to a significant decrease in aesthetics and function after surgery. Therefore, elucidation of the molecular mechanisms underlying OSCC is necessary for its early detection and treatment. N6-methyladenosine (m6A) modification of mRNA is the most common form of post-transcriptional RNA methylation and is often involved in the progression of cancer by regulating the expression of various genes. Recent studies reported the tumor-promoting effects of vir-like m6A methyltransferase associated (VIRMA, also termed KIAA1429), a novel molecule involved in m6A modification; however, its role in OSCC remains poorly understood.</p><p><strong>Methods: </strong>In the present study, we determined the total m6A levels and VIRMA expression in OSCC using immunohistochemistry of tissue specimens and evaluated their association with clinicopathologic characteristics. We also performed gene expression analysis of VIRMA/KIAA1429 using public datasets.</p><p><strong>Results: </strong>We found that the m6A levels were significantly higher in the OSCC specimens of patients with a more advanced clinical stage (P = 0.0063), lymph node metastasis (P = 0.0323), and venous invasion (P = 0.0380) compared to those without. The analysis of the public datasets revealed that VIRMA/KIAA1429 expression levels were higher in head and neck SCC than in normal mucosa, whereas immunohistochemistry revealed that VIRMA-expressing OSCC was associated with a significantly shorter disease-free survival (P = 0.0043) and was an independent poor prognostic factor (P = 0.0179).</p><p><strong>Conclusions: </strong>These results highlight the potential utility of RNA methylation and VIRMA expression for the diagnosis and treatment of OSCC.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"81"},"PeriodicalIF":2.4,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12226839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144559499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinicopathological features and reclassification of penile squamous cell carcinoma according to WHO classification 2022 for penile carcinoma with p16 immunohistochemical expression and its prognostic impact.","authors":"Vaanya Kaushik, Kanthilatha Pai, Anuradha Rao, Swati Sharma","doi":"10.1186/s13000-025-01676-5","DOIUrl":"10.1186/s13000-025-01676-5","url":null,"abstract":"<p><strong>Introduction: </strong>Squamous cell carcinoma (SCC) is the most common type of penile cancer, and infection with human papillomavirus (HPV) is one of the most highly associated risk factors. The WHO classification for penile SCC (2022) strongly recommends and advocates penile SCC to be reported as HPV-associated or HPV-independent type in pathology reports. Further, p16 immunohistochemistry (IHC) is recommended to classify SCC into the above major types, although it is not completely reliable for HPV infection. Although there are no established differences in the prognosis or treatment between HPV-associated and HPV-independent penile tumours, there is recent evidence to suggest that HPV-associated SCC may respond better to radiation therapy, immunotherapy, etc. AIM AND OBJECTIVES: This study aims to = analyse the clinicopathological features of penile squamous cell carcinoma and reclassify penile SCC into HPV-associated and HPV-independent types to align with the WHO classification of penile carcinoma (2022) and study the expression of p16 by immunohistochemistry. Additionally, we studied the prognostic significance of HPV-associated and independent SCC based on histology and p16 immunostaining.</p><p><strong>Materials and methods: </strong>This is a five-year retrospective single-institution study that included all diagnosed cases of penile SCC. Clinicopathological features and p16 expressions were studied and analysed.</p><p><strong>Results: </strong>A total of 72 cases of penile SCC were included during the study period. The mean age of occurrence of penile SCC was 58 years. The most common site of the tumor was the glans penis (50.74%). We encountered only 6 cases (8.3%) of HPV-associated type of penile SCC, while the majority belonged to the HPV-independent type (91.7%) based on histology. p16 immunohistochemistry showed positivity in 15 cases (21%) and negativity in 57 cases (79%). Most of the tumors showed favorable features- histological grade I, pathological T1 stage with a low incidence of nodal metastasis. There was a strong association between histological subtyping into HPV-associated and independent SCC with p16 IHC expression (p = 0.015). Classification of penile SCC by histology and p16 expression into HPV associated and independent type showed no prognostic significance with pathological stage but was significant with histological grade and lymph node metastasis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"80"},"PeriodicalIF":2.4,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12231722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144559488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"SHMT2 overexpression improves glaucoma by enhancing mitophagy in retinal ganglion cells through promoting the phospho of PINK1.","authors":"Liying Cui, Baojun Wang","doi":"10.1186/s13000-025-01675-6","DOIUrl":"10.1186/s13000-025-01675-6","url":null,"abstract":"<p><strong>Background: </strong>Glaucoma is a major eye disease that causes blindness. The loss of retinal ganglion cells (RGCs) due to mitophagy impairment is a key driver of glaucoma. SHMT2 depletion leads to an increase in reactive oxygen species (ROS), but its role in regulating mitophagy remains unclear. This study aims to investigate the mechanism by which SHMT2 contributes to glaucoma through the regulation of RGC mitophagy.</p><p><strong>Methods: </strong>The role of SHMT2 in glaucoma was evaluated through hematoxylin and eosin (H&E) staining and immunofluorescence (IF) staining of acute ocular hypertension (AOH) mouse eyeballs. Mitophagy was assessed by measuring LDH release, apoptosis, mitochondrial membrane potential, lipid ROS, and the protein levels of mitophagy-related proteins in RGCs. The underlying mechanism was investigated using co-immunoprecipitation, IF staining, and Western blot analysis.</p><p><strong>Results: </strong>Results showed that SHMT2 expression was decreased in the AOH mouse model. NMDA inhibited mitophagy in RGCs, which was restored by SHMT2 overexpression. Moreover, SHMT2 overexpression stabilized PINK1 expression by enhancing the phosphorylation of PINK1. In vivo experiments suggested that SHMT2 overexpression increased the thickness of the retinal ganglion cell-inner plexiform layer.</p><p><strong>Conclusion: </strong>This study confirmed that SHMT2 overexpression alleviated glaucoma by enhancing mitophagy in RGCs through the upregulation of PINK1 phosphorylation, suggesting that SHMT2 may serve as a potential therapeutic target for glaucoma.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"79"},"PeriodicalIF":2.4,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12220441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144552595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Joshua Jing Xi Li, Chit Chow, Joanna Ka Man Ng, Ka Pang Chan, Molly Siu Ching Li, Ka-Fai To
{"title":"p53 aberrant expression is pervasive in pleomorphic carcinomas of the lung and a sensitive diagnostic adjunct for biopsy specimens.","authors":"Joshua Jing Xi Li, Chit Chow, Joanna Ka Man Ng, Ka Pang Chan, Molly Siu Ching Li, Ka-Fai To","doi":"10.1186/s13000-025-01677-4","DOIUrl":"10.1186/s13000-025-01677-4","url":null,"abstract":"","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"78"},"PeriodicalIF":2.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12219613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhang Ye, Cui Zixing, Lv Xiaojun, Yang Ningning, Shi Qifeng
{"title":"A case of primary tarsal sinus synovial sarcoma.","authors":"Zhang Ye, Cui Zixing, Lv Xiaojun, Yang Ningning, Shi Qifeng","doi":"10.1186/s13000-025-01674-7","DOIUrl":"10.1186/s13000-025-01674-7","url":null,"abstract":"<p><strong>Background: </strong>Primary intra-articular synovial sarcoma is a rare condition that is frequently misdiagnosed due to its indolent growth pattern and similarity to other common joint disorders.</p><p><strong>Case presentation: </strong>A 48-year-old Chinese woman presented with a 3-year history of recurrent pain and limited mobility in her left ankle. She had previously been misdiagnosed with conditions such as ankle sprain, synovitis, or tarsal sinus syndrome. After undergoing arthroscopic synovectomy, pathological examination confirmed the diagnosis of synovial sarcoma.</p><p><strong>Conclusion: </strong>Primary intra-articular synovial sarcoma is an exceedingly rare and often misdiagnosed condition. It's slow growth and clinical overlap with other joint pathologies contribute to diagnostic challenges. Accurate diagnosis relies on comprehensive evaluation, particularly when clinical manifestations deviate from typical presentations. A high index of suspicion and thorough pathological assessment are essential for timely and accurate diagnosis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"77"},"PeriodicalIF":2.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12211441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nancy Vargas, Andrés Quiroga, Juan Pablo Chaves, Harold Bolaños, ILKe Nalbantoglu, Claudia Patricia Acosta Astaiza, Yuefeng Wu, José B Sáenz
{"title":"Patterns of sialyl-Lewis X expression predict gastric histopathology.","authors":"Nancy Vargas, Andrés Quiroga, Juan Pablo Chaves, Harold Bolaños, ILKe Nalbantoglu, Claudia Patricia Acosta Astaiza, Yuefeng Wu, José B Sáenz","doi":"10.1186/s13000-025-01673-8","DOIUrl":"10.1186/s13000-025-01673-8","url":null,"abstract":"<p><strong>Introduction: </strong>Gastric cancer develops through a series of pre-cancerous changes over decades of chronic inflammation. Chronic atrophic gastritis (CAG) represents a critical transition in the progression to gastric cancer, though validated histologic markers are needed to more accurately detect and assess the extent of CAG. We previously identified sialyl-Lewis X (sLe<sup>x</sup>) as a marker of atrophic gastric epithelium in mice. Here, we establish patterns of sLe<sup>x</sup> expression that can be used to detect and distinguish human gastric pre-cancerous lesions.</p><p><strong>Methods: </strong>We obtained gastric corpus and/or antrum biopsies from 149 adult patients with dyspepsia. Biopsies were stained with hematoxylin/eosin and a commercially available antibody to sLe<sup>x</sup>. Histologic diagnoses included normal, chronic non-atrophic gastritis (CNG), or CAG with or without intestinal metaplasia (IM) and were determined by a single pathologist. A second pathologist graded each biopsy according to consensus criteria, based on the presence, intensity, and glandular distribution of sLe<sup>x</sup> staining. Log-linear models were used to determine the association between patterns of sLe<sup>x</sup> expression and gastric pathology.</p><p><strong>Results: </strong>The majority of patients (70%) had gastric pathology (CNG or CAG ± IM). The presence of sLe<sup>x</sup> could be used to detect gastric pathology (97% sensitivity), and the absence of sLe<sup>x</sup> staining could reliably predict normal histology (76% specificity). The intensity of sLe<sup>x</sup> staining significantly correlated with gastric pathology. Moreover, a deeper (≥ 50%) glandular sLe<sup>x</sup> distribution in the antrum was significantly associated with CAG, while a more superficial (< 50%) distribution significantly correlated with CNG.</p><p><strong>Conclusion: </strong>Patterns of sLe<sup>x</sup> expression can be used to detect and refine the histologic assessment of gastric pre-neoplastic lesion severity.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"76"},"PeriodicalIF":2.4,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12183862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mixed epithelial and stromal tumor of the seminal vesicles: report of a rare case with diagnostic, therapeutic, and prognostic insights.","authors":"Faisal Saeed, Adeboye O Osunkoya","doi":"10.1186/s13000-025-01647-w","DOIUrl":"10.1186/s13000-025-01647-w","url":null,"abstract":"<p><strong>Background: </strong>Mixed epithelial and stromal tumors (MESTs) of the seminal vesicle are exceptionally rare neoplasms composed of both epithelial and stromal elements, posing significant diagnostic challenges due to their rarity and overlapping characteristics with other pelvic neoplasms.</p><p><strong>Case presentation: </strong>We describe a 45-year-old patient with chronic pelvic pain and obstructive urinary symptoms. Imaging revealed a large cystic and solid mass involving his seminal vesicles, with significant mass effect on adjacent structures. Differential diagnoses included seminal vesicle adenocarcinoma and sarcoma. Complete surgical resection and subsequent histopathological analysis confirmed a low-grade seminal vesicle MEST with biphasic epithelial and stromal components, lacking atypia or notable mitotic activity. Immunohistochemical analysis revealed stromal positivity for estrogen receptor (ER), progesterone receptor (PR), smooth muscle actin, desmin, and CD34, and epithelial positivity for PAX8, PAX2, CK7, and MUC-6, supporting the diagnosis. The patient remains disease-free 32 months post-surgery.</p><p><strong>Conclusion: </strong>Seminal vesicle MESTs are rare and histologically diverse tumors, with pathogenesis likely hormonally influenced given ER and PR expression. Diagnosis requires a multidisciplinary approach, including imaging, histopathology, and immunohistochemistry. Surgical excision is the preferred treatment, offering an excellent prognosis for low-grade cases. This case emphasizes the importance of detailed documentation to improve understanding and management of these rare tumors, and its prognosis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"75"},"PeriodicalIF":2.4,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181829/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jacqueline E van der Wal, Mustafa Barre Magan, Lennart Flygare, Karin Nylander
{"title":"Bilateral synchronous salivary gland tumors: report of three cases.","authors":"Jacqueline E van der Wal, Mustafa Barre Magan, Lennart Flygare, Karin Nylander","doi":"10.1186/s13000-025-01672-9","DOIUrl":"10.1186/s13000-025-01672-9","url":null,"abstract":"<p><strong>Background: </strong>Bilateral salivary gland tumors, both benign and malignant and synchronous or metachronous are very rare.</p><p><strong>Case presentation: </strong>Here three cases of synchronous bilateral salivary gland tumors are described and discussed. Recognizing the entity is important for diagnostics and treatment planning. The first patient was a 56-year-old female with a bilateral parotid tumor, a malignant tumor, salivary duct carcinoma on the right side and a benign tumor, pleomorphic adenoma on the left side. The second patient was a 50-year old female with a bilateral benign parotid tumor, a pleomorphic adenoma. The third patient was a 51-year old female with a bilateral malignant tumor, an acinic cell carcinoma. Details on the diagnostic work-up, histopathology and treatment are described and discussed.</p><p><strong>Conclusions: </strong>In the case of a unilateral salivary gland tumor, especially of the major glands, the contralateral gland is always included in the clinical and radiological (MRI) head and neck evaluation prior to surgery, to detect or exclude possible bilateral occurrence.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"74"},"PeriodicalIF":2.4,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12164054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinical pathological and molecular features of 100 patients with gastric-type cervical adenocarcinoma.","authors":"Shangshu Gao, Yan Song","doi":"10.1186/s13000-025-01666-7","DOIUrl":"10.1186/s13000-025-01666-7","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinicopathological and molecular features, diagnosis, and differential diagnosis of gastric-type cervical adenocarcinoma (GAS).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 100 patients diagnosed with GAS at the National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences, from January 2017 to January 2025. Clinicopathological data, histological characteristics, and immunohistochemical expression patterns were analyzed. Targeted next-generation sequencing (NGS) was performed on 11 cases.</p><p><strong>Results: </strong>The cohort comprised 100 GAS patients (median age 50 years). Common clinical manifestations included abnormal uterine bleeding and vaginal discharge, with a significant proportion presenting at advanced FIGO stages (II-IV). Histological features were characteristic, and immunohistochemistry, including markers like MUC6, p16, PAX8, and PAX2, was crucial for diagnosis and differential diagnosis. Molecular analysis of 11 cases revealed a distinct high-frequency somatic mutation profile, including TP53 (72.7%), KRAS (45.5%), SMAD4 (45.5%), CDKN2A (36.4%), PIK3CA (27.3%) and STK11 (18.2%). This profile showed molecular homology with pancreaticobiliary adenocarcinoma and was characterized by microsatellite stable (MSS) and low tumor mutational burden (TMB). Regarding molecular markers and prognosis, aberrant p53 expression was frequent (50%, 37/74) but showed no significant association with clinicopathological factors or survival outcomes (p > 0.05). In contrast, PD-L1 expression (CPS ≥ 1) was significantly associated with higher FIGO stage (p = 0.021) and shorter progression-free survival (PFS) (p = 0.046).</p><p><strong>Conclusions: </strong>GAS is a highly malignant, HPV-independent cervical adenocarcinoma characterized by atypical clinical symptoms and complex histology. This study, representing a large cohort from Northern China, provides comprehensive insights into its clinicopathological and molecular landscape. We characterized its unique molecular profile and, importantly, identified PD-L1 (CPS ≥ 1) as a potential prognostic marker associated with shorter PFS. These findings contribute to improving diagnosis, understanding biological behavior, and identifying potential therapeutic targets for this aggressive subtype.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"73"},"PeriodicalIF":2.4,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12150475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}