Diagnostic Pathology最新文献

{"title":"The diagnostic dilemma of idiopathic granulomatous mastitis with an emphasis on histopathologic findings.","authors":"Kiana Anousha, Behnaz Jahanbin, Farid Azmoudeh Ardalan, Vahid Soleimani, Maryam Azizi, Amin Rezvani","doi":"10.1186/s13000-025-01739-7","DOIUrl":"10.1186/s13000-025-01739-7","url":null,"abstract":"<p><p>BACKGROUND: Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast condition with diverse clinical and radiologic features, often misdiagnosed as malignancy prior to sampling. Therefore, histological findings are one of the most essential bases of diagnosis. METHODS: We retrospectively searched the histopathologic database of the Cancer Institute of Imam Hospital for IGM cases and collected clinical and radiological data. After ruling out other causes of granulomatous mastitis, the histopathologic features of each case were evaluated. The pattern of inflammation was classed as lobulocentric, lobular spared, or confluent. The presence of granulomas was evaluated based on descriptive features, including well-formed or poorly defined granulomas, as well as the presence or absence of multinucleated giant cells. Granulation tissue, empty space, fat necrosis, and necrosis were also assessed. RESULTS: Overall, 40 cases of IGM were reviewed. All patients were female, within the age range of 22 to 64, with the majority falling into the 30-39 category. The most common clinical manifestation was a palpable mass. 30% of patients had a history of breastfeeding over the past 5 years, and one patient had a history of prolactinoma. BI-RADS 4a was the most reported radiologic score. In histopathologic assessment, lobulocentric inflammation was reported as a predominant finding (45% of cases). Granuloma was present in 39 cases (97.5%), but was only well-defined in 33 cases (82.5%). Neutrophilic aggregates were present in 37 cases (92.5%). CONCLUSION: The diagnosis of IGM depends on assessing the clinical and radiologic findings along with pathologic features. IGM is microscopically defined by a non-caseating lobulocentric granulomatous inflammation, composed of tight aggregates of epithelioid histiocytes. One of the variants, cystic neutrophilic granulomatous mastitis (CNGM), is characterized by the presence of cystic empty vacuoles lined by neutrophils. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"8"},"PeriodicalIF":3.5,"publicationDate":"2025-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12853892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145846442","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":"Tumor-infiltrating neutrophil is an independent prognostic factor in pancreatic ductal adenocarcinoma.","authors":"Seung-Myoung Son, Hye Sook Han, Ho-Chang Lee, Ok-Jun Lee, Chang Gok Woo","doi":"10.1186/s13000-025-01743-x","DOIUrl":"10.1186/s13000-025-01743-x","url":null,"abstract":"<p><strong>Background: </strong>Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal malignancies. Tumor-infiltrating neutrophils (TINs) have been implicated in tumor progression and poor prognosis; however, their roles in PDAC remain unclear. TINs have been shown to granulocytic myeloid-derived suppressor cells (G-MDSCs) which inhibit adaptive immune responses and share morphological and functional features with classical neutrophils. G-MDSCs, unlike classical neutrophils, express myeloperoxidase (MPO). We evaluated the significance of TINs and MPO expression as a marker for prognosis in the PDAC.</p><p><strong>Methods: </strong>We retrospectively analyzed 128 patients with surgically resected PDAC. The presence of TIN was assessed on hematoxylin and eosin-stained slides and immunohistochemistry was performed for MPO.</p><p><strong>Results: </strong>TINs were identified in 61.7% of patients with PDAC. Their presence was significantly associated with worse overall survival and recurrence-free survival. After adjusting for clinicopathological variables, TIN remained an independent predictor of a poor prognosis. MPO was expressed in all TIN within PDAC, but was absent in neutrophils within benign inflammatory conditions.</p><p><strong>Conclusions: </strong>TIN in PDAC represents an independent adverse prognostic factor and is likely to be G-MDSCs based on MPO expression. Assessing TIN and MPO status in preoperative biopsy specimens may offer valuable prognostic information and guide future therapeutic strategies for PDAC.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"2"},"PeriodicalIF":2.3,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12766948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145809633","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":"Application value of TPAS staining technique for cervical exfoliated cells in cervical cancer screening.","authors":"Guo Chen, Wenli Zhang, Yuchen HuYan, Yipching Yang, Wensheng Li, Guoqiang Feng, Zifan Lu","doi":"10.1186/s13000-025-01744-w","DOIUrl":"10.1186/s13000-025-01744-w","url":null,"abstract":"<p><strong>Background: </strong>Recent studies have shown that tumor cell membranes exhibit lower polarity than normal cell membranes, a characteristic that can be harnessed for cancer diagnosis. TPAS (viscosity-responsive plasma membrane probe), a recently developed staining method using cell membrane polarity probes, may selectively visualize cervical cancer cells by targeting membrane polarity differences, offering a potential new approach for cervical cancer screening.To investigate the diagnostic value of TPAS staining combined with liquid-based thin-layer cytological testing (TCT) and human papillomavirus (HPV) testing in detecting cervical cancer.</p><p><strong>Methods: </strong>A total of 100 patients with suspected cervical precancerous lesions from the People's Hospital of Shaanxi Province between May 2024 and May 2025 were studied. All patients underwent TPAS testing, HPV testing and TCT. Biopsy results were the gold standard for evaluating positivity rates and diagnostic values of the tests, both individually and in combination.</p><p><strong>Results: </strong>Among the 100 participants, the positive rates of the tests were as follows: TPAS detection rate was 86.7%, HPV detection rate was 80%, TCT rate 66.7%, and TCT + HPV rate was 35.00%. The combined TPAS + HPV testing showed higher accuracy (72.00%) and sensitivity(70.6%) than TCT + HPV (58.0%)and (54.1%), and the differences were statistically significant ((χ2 = 14.00,P = 0.0002).</p><p><strong>Conclusion: </strong>TPAS combined with HPV testing has high specificity, sensitivity and accuracy, making it a promising approach for cervical cancer diagnosis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"7"},"PeriodicalIF":2.3,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145809670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of histopathology and cytology request form documentation quality using six Sigma and Pareto analysis in Benghazi, Libya.","authors":"Hussien Hamid, Hamza Naas, Mohamed A Alshaqabi, Moutaz F Gebril, Nabeia A Gheryani, Abdel Alhakem Alhabone, Mohamed H S Ahmida, Abdulla M Elmansoury, Mohamed Najah","doi":"10.1186/s13000-025-01740-0","DOIUrl":"10.1186/s13000-025-01740-0","url":null,"abstract":"<p><strong>Background: </strong>Histopathology and cytology request forms are pivotal in the pre-analytical phase of laboratory testing, where incomplete or erroneous documentation on these forms can compromise the entire testing process. This study aimed to assess the documentation quality and process performance of histopathology and cytology request forms using Six Sigma and Pareto analysis in three private laboratories in Benghazi, Libya.</p><p><strong>Methods: </strong>A retrospective cross-sectional study was conducted on 1,181 request forms collected from February to April 2025. A structured checklist encompassing five documentation domains and 15 quality indicators based on WHO guidelines was used to assess form completeness. Six Sigma metrics including Defects per Unit (DPU), Defects per Million Opportunities (DPMO), Sigma level, and Yield (%), along with Pareto analysis, were applied to evaluate and prioritize quality deficiencies.</p><p><strong>Results: </strong>None of the evaluated request forms achieved full compliance with documentation standards. The overall process performance was unacceptable, with a Sigma level of 1.707 and a yield of 58.22%. Pareto analysis revealed that approximately 80% of documentation errors originated from three key domains: requesting clinician details, personal information, and clinical information. The requesting clinician details domain was the most deficient, with a Sigma level of 1.438 and a yield of 47.5%. The personal information domain followed, with a Sigma level of 1.867 and a yield of 64.31%. The clinical information domain showed a Sigma level of 1.263 and a yield of 40.6%. In contrast, the specimen details domain exhibited relatively better performance, with a Sigma level of 2.574 and a yield of 85.86%.</p><p><strong>Conclusions: </strong>Six Sigma and Pareto analysis were applied to identify critical deficiencies in documentation practices during the pre-analytical phase of histopathology services in Libya. The results highlight an urgent need to implement standardized staff training protocols, redesign request forms with mandatory fields, enforce accountability mechanisms, and establish robust quality monitoring systems. Low-cost tools-such as Excel-based compliance trackers and manual logbooks-can serve as effective interim solutions to enhance documentation compliance and support continuous quality improvement in resource-limited settings.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"6"},"PeriodicalIF":2.3,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145773875","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":"Low CDX2 expression and its clinicopathological associations in colorectal adenocarcinoma: prognostic insights from a retrospective cross-sectional study in Vietnam.","authors":"Huy Minh Le, Tram Ho Ngoc Le, Hanh Thi Tuyet Ngo, Thao Thi Thu Luu, Thang Quoc Pham, Giang Huong Tran, Thien Thanh Ly","doi":"10.1186/s13000-025-01734-y","DOIUrl":"10.1186/s13000-025-01734-y","url":null,"abstract":"<p><strong>Background: </strong>CDX2, an intestine-specific transcription factor, is essential for colorectal epithelial differentiation and has been widely studied as a biomarker in colorectal adenocarcinoma (CRC). However, most previous studies applied a binary evaluation (positive/negative), which may underestimate its clinical significance.</p><p><strong>Methods: </strong>We conducted a retrospective cross-sectional study of 356 surgically resected CRC cases at the University Medical Center, Ho Chi Minh City. CDX2 expression was evaluated by immunohistochemistry using an immunoreactivity score (IRS) that combined staining ratio and intensity. Associations between CDX2 expression and clinicopathological features were analyzed using chi-square and logistic regression tests.</p><p><strong>Results: </strong>High CDX2 expression was observed in 88.8% of tumors, whereas 11.2% showed low expression. Low CDX2 was significantly associated with poor histological differentiation (OR = 3.79; 95% CI: 1.11-12.93; p = 0.033) and advanced local stage pT4a-pT4b compared with pT1-pT3 (OR = 2.86; 95% CI: 1.47-5.58; p = 0.002). No significant associations were found with patient age or sex. The combined scoring system allowed clearer discrimination between biologically distinct subgroups than the traditional binary method.</p><p><strong>Conclusions: </strong>Low CDX2 expression is linked to aggressive pathological features and advanced tumor stage in CRC, highlighting its clinicopathological associations. Semi-quantitative evaluation of CDX2 using both staining ratio and intensity provides a more informative assessment that may aid risk stratification and guide clinical decision-making in CRC patients.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"134"},"PeriodicalIF":2.3,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12699864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145741485","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":"Concurrent seronegative spondyloarthropathy and Takayasu's arteritis: a case report and literature review.","authors":"Xue-Hui Sun, Chun-Ye Wu","doi":"10.1186/s13000-025-01741-z","DOIUrl":"10.1186/s13000-025-01741-z","url":null,"abstract":"<p><p>Seronegative spondyloarthropathy (SpA) and Takayasu's arteritis (TA) are distinct chronic inflammatory conditions with autoimmune characteristics. While both conditions are relatively common, their concurrent occurrence is rare. This case report presents an individual diagnosed with both SpA and TA, detailing the clinical presentation, disease course, and therapeutic interventions. A review of relevant literature is also included to enhance clinical awareness of this uncommon combination. For that patients with SpA who exhibit elevated inflammatory markers, intermittent low-grade fever, fatigue, or inadequate response to standard therapies, it's better to undergo evaluation for the potential presence of TA. Early identification of TA in such cases may help mitigate the risks of misdiagnosis or delayed diagnosis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"5"},"PeriodicalIF":2.3,"publicationDate":"2025-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12802278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145721315","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":"Integrative prognostic model incorporating high mobility group box 1 subcellular localization and tumor-infiltrating lymphocytes in early-stage lung adenocarcinoma.","authors":"Yao Liu, Miyako Shimasaki, Motona Kumagai, Jia Han, Akihiro Shioya, Masaru Sakurai, Hidetaka Uramoto, Sohsuke Yamada","doi":"10.1186/s13000-025-01736-w","DOIUrl":"10.1186/s13000-025-01736-w","url":null,"abstract":"<p><strong>Background: </strong>The prognostic impact of high mobility group box 1 (HMGB1) in lung adenocarcinoma may depend on its subcellular localization, while the density of tumor-infiltrating lymphocytes (TILs) reflects the host anti-tumor immune response. However, the combined prognostic value of these two factors in early-stage lung adenocarcinoma remains unclear.</p><p><strong>Methods: </strong>This retrospective study included 112 patients with pathological stage I-II lung adenocarcinoma who underwent complete surgical resection at our institution between 2007 and 2017. None received neoadjuvant chemotherapy or radiotherapy. Immunohistochemistry was performed on formalin-fixed, paraffin-embedded tumor specimens to evaluate HMGB1 subcellular localization and stromal TILs infiltration. The latter was semi-quantitatively assessed according to the International TILs Working Group recommendations and dichotomized using the median value as the cutoff. Clinicopathological variables, including differentiation, pleural invasion, lymphovascular invasion, and pathological stage, were collected and correlated with HMGB1 localization and TIL status. Survival outcomes were analyzed using Kaplan-Meier and Cox proportional hazards models. Multivariable analyses were adjusted according to the events-per-variable (EPV) rules, and model diagnostics included proportional hazards testing and multicollinearity assessment. Interobserver agreement for HMGB1 localization was evaluated using Fleiss'κ statistics.</p><p><strong>Results: </strong>Cytoplasmic HMGB1 expression and low TIL infiltration were significantly associated with adverse clinicopathological features, including poorer differentiation and higher rates of lymphovascular invasion. Both cytoplasmic HMGB1 and low TIL levels independently predicted a shorter DFS and OS. Patients with the combined phenotype of cytoplasmic HMGB1 and low TIL levels had the worst prognosis, with hazard ratios exceeding those of either factor alone. The integrative model based on HMGB1 localization and TIL status enhanced the prognostic discrimination beyond conventional clinicopathological parameters.</p><p><strong>Conclusions: </strong>HMGB1 subcellular localization and TIL infiltration are independent prognostic biomarkers of early-stage lung adenocarcinoma. An integrative model combining these parameters provides enhanced risk stratification and may inform individualized postoperative management strategies.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"3"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12772081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145652987","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":"Usefulness of BRG1 immunostaining in detecting SMARCA4 deficiency in \"so-called\" cancers of unknown primary in daily pathology practice.","authors":"Chie Hasegawa, Kota Washimi, Yukihiko Hiroshima, Hiroyuki Takahashi, Shinya Sato, Emi Yoshioka, Yoichiro Okubo, Yohei Miyagi","doi":"10.1186/s13000-025-01738-8","DOIUrl":"10.1186/s13000-025-01738-8","url":null,"abstract":"<p><p>BACKGROUND: SMARCA4 encodes BRG1, loss of which is associated with aggressive tumor biology. Although SMARCA4 deficiency has been described in various malignancies, its role in “so-called” cancers of unknown primary (“so-called” CUP), that is, metastatic tumors encountered in pathology practice without a clear primary site, remains unclear. METHODS: We retrospectively studied 108 cases submitted as so-called “CUP” between 2017 and 2023, in which the primary site could not be determined at the time of diagnosis. Histological features and BRG1 immunohistochemistry were reviewed. BRG1 loss was defined as complete absence of nuclear staining in tumor cells. Comprehensive genomic profiling (CGP) was performed in selected cases with sufficient residual tissue. Tumor mutation burden (TMB) ≥ 10 mutations/Mb was defined as TMB-high. RESULTS: BRG1 loss was observed in 13 tumors (12%). BRG1-loss tumors were significantly more likely to involve the thoracic cavity (85% vs. 36%; p < 0.001) and exhibited prominent necrosis, higher mitotic counts, and nuclear inclusions compared with BRG1-preserved tumors. All nine BRG1-loss tumors tested by CGP harbored pathogenic SMARCA4 mutations, and 78% (7/9 cases) were TMB-high compared with 14% (1/7 cases) of BRG1-preserved tumors. PD-L1 positivity was detected in one of 11 BRG1-loss cases tested. Other mutations observed in BRG-1 loss tumors were not distinctive enough to indicate the primary site. CONCLUSIONS: BRG1 immunostaining is a sensitive surrogate of SMARCA4 deficiency in “so-called” CUP. Although BRG1 status does not reliably identify the site of origin, it highlights tumors enriched for thoracic involvement and TMB-high status. These findings support the use of BRG1 as a practical screening tool to select cases for further genomic testing and therapeutic stratification, including potential consideration of immune checkpoint inhibitors. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"4"},"PeriodicalIF":3.5,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12777329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145653289","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":"Aberrant TTF-1 expression in metastatic colorectal adenocarcinoma mimicking primary lung cancer: a case report and review of diagnostic pitfalls.","authors":"Nhu Tung Tran, Nguyen Van Thai, Nguyen Thi Khuyen, Linh Thi Le, Lai The Anh Khoa","doi":"10.1186/s13000-025-01732-0","DOIUrl":"10.1186/s13000-025-01732-0","url":null,"abstract":"<p><p>A 43-year-old man with sigmoid colon adenocarcinoma (low-grade, moderately) developed multiple pulmonary metastases, presenting an unusual immunohistochemical profile. Histologically, resected lung nodules showed metastatic adenocarcinoma consistent with colorectal origin, yet the tumor cells paradoxically expressed thyroid transcription factor-1 (TTF-1) - a marker typically specific to primary lung adenocarcinoma. Immunophenotyping demonstrated TTF-1 nuclear positivity in the metastatic tumor alongside a classic colorectal profile: cytokeratin 7 (CK7) negativity, cytokeratin 20 (CK20) positivity, strong caudal-type homeobox transcription factor 2 (CDX2) and special AT-rich sequence-binding protein 2 (SATB2) nuclear expression, and absence of Napsin A. The patient underwent surgical resection of the primary sigmoid colon tumor and received 16 cycles of capecitabine plus bevacizumab chemotherapy. Molecular testing revealed a KRAS c.35G > T (p.G12V) mutation in the tumor. This case highlights a potential diagnostic pitfall in metastatic colorectal cancer: aberrant TTF-1 expression can mimic a primary lung tumor. We discuss how the comprehensive immunohistochemical panel and genetic findings confirmed the colorectal origin of the lung lesions, emphasizing that combined marker profiles (TTF-1 +/CK7 -/CK20 +/CDX2 +/SATB2 +/Napsin A -) are more consistent with metastatic colorectal adenocarcinoma rather than an enteric-type adenocarcinoma of the lung, primary. The report reviews relevant literature and underscores the importance of correlating clinical history with pathology to avoid misdiagnosis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"1"},"PeriodicalIF":2.3,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12764080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145631120","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":"SMARCB1 (INI-1) deficient vulvar neoplasms: report of 4 cases with review of literature.","authors":"Meenakshi Kamboj, Prerna Chadha, Anila Sharma, Sarika Gupta, Vandana Jain, Divya Bansal, Sunil Pasricha, Gurudutt Gupta, Garima Durga, Anurag Mehta","doi":"10.1186/s13000-025-01731-1","DOIUrl":"10.1186/s13000-025-01731-1","url":null,"abstract":"<p><p>SMARCB1 (INI-1) deficient vulvar neoplasms are rare tumors with scarce available literature. These tumors can be comprised of proximal type epithelioid sarcoma (ES), myoepithelial carcinoma (MEC), myoepithelioma-like tumor of the vulvar region (MELTVR), and myxoepithelioid tumor with chordoid features (METC). A subset of vulvar yolk sac tumors (VYSTs) also exhibit INI-1 deficiency. Unlike other vulvar germ cell tumors, some researchers speculate these to be of non-germ cell origin. Herein, we report a spectrum of INI-1 deficient vulvar tumors comprising VYST (1 case), ES (1 case) and MELTVR (2 cases) which showed variable histomorphological features and concomitant lack of INI-1 expression on immunohistochemistry. The clinical course ranges from indolent to aggressive and all tumors warrant close clinical follow up. Management includes surgical excision with or without adjuvant therapy. Recognition of these unique neoplasms can aid in refining the classification scheme for such uncommon vulvar tumors.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"132"},"PeriodicalIF":2.3,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145602976","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}