International Journal of Surgical Pathology最新文献

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Endometrial Clear Cell Carcinoma with Non-Gestational Uterine Choriocarcinoma Differentiation. 伴有非妊娠子宫绒毛膜癌分化的子宫内膜透明细胞癌
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-04-01 Epub Date: 2024-08-01 DOI: 10.1177/10668969241265022
Sahra Sultan Kara, Esra Keles, Begum Yeni Erdem, Murat Api
{"title":"Endometrial Clear Cell Carcinoma with Non-Gestational Uterine Choriocarcinoma Differentiation.","authors":"Sahra Sultan Kara, Esra Keles, Begum Yeni Erdem, Murat Api","doi":"10.1177/10668969241265022","DOIUrl":"10.1177/10668969241265022","url":null,"abstract":"<p><p>Choriocarcinoma is a rare and highly malignant tumor that primarily occurs in women of reproductive age. Choriocarcinoma can be classified as gestational or nongestational, based on its pathogenetic origin. Although primary nongestational choriocarcinoma has been described in the ovaries, it is very rare in the uterus, especially in postmenopausal women. It is crucial to differentiate between gestational and non-gestational choriocarcinoma, as it affects the choice of treatment and prognosis. Endometrial clear cell carcinoma is an aggressive subtype of endometrial cancer, accounting for less than 10% of all uterine carcinomas. Trophoblastic differentiation in uterine cancer is unusual and very rare, with only three examples of the subtype of clear cell endometrial cancer with gestational choriocarcinoma reported in the literature, including only one with nongestational choriocarcinoma. Here, we present an example of clear cell carcinoma with nongestational uterine choriocarcinoma differentiation in a postmenopausal woman.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"472-476"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Isolated Monoclonal T-Cell Receptor Gene Rearrangement in a Lung Adenocarcinoma Harboring MET Exon 14 Skipping: Diagnostic Pitfall. 肺腺癌中分离出的单克隆 T 细胞受体基因重排(携带 MET 第 14 号外显子缺失):诊断陷阱。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-04-01 Epub Date: 2024-08-18 DOI: 10.1177/10668969241266927
Wangpan Jackson Shi, Joshua Nguyen, Wei Song, Huan-You Wang, Grace Y Lin, Oluwole Fadare, Li Lei
{"title":"Isolated Monoclonal T-Cell Receptor Gene Rearrangement in a Lung Adenocarcinoma Harboring <i>MET</i> Exon 14 Skipping: Diagnostic Pitfall.","authors":"Wangpan Jackson Shi, Joshua Nguyen, Wei Song, Huan-You Wang, Grace Y Lin, Oluwole Fadare, Li Lei","doi":"10.1177/10668969241266927","DOIUrl":"10.1177/10668969241266927","url":null,"abstract":"<p><p>In the diagnostic workup of poorly differentiated tumors, T-cell receptor (TCR) clonality has long been considered as evidence of T-cell lymphoma. <i>MET</i> exon 14 skipping (<i>METex14</i>) is a mutation typically seen in lung adenocarcinoma. Herein, we present the first report of <i>METex14</i> lung adenocarcinoma with isolated monoclonal TCRγ gene rearrangement. A 69-year-old woman presented to an outside hospital with pleural effusions. A pleural decortication demonstrated malignant cells positive for CD30 and CD138 but negative for BerEP4, KRT5, and EMA. An equivocal HHV8 staining was interpreted as positive, leading to the erroneous outside diagnosis of primary effusion lymphoma. Additional workup at our institution revealed a lack of HHV8 and T-cell markers but the presence of TCRγ clonality, pankeratin, and TTF1 expression. Repeat TCRγ testing on the in-house biopsy was negative for clonality. Next-generation sequencing detected <i>METex14</i>, confirming the diagnosis of lung adenocarcinoma. The potential diagnostic pitfall and prognostic/predictive implications are discussed.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"484-489"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reporting Hormone Receptor Expression in Breast Carcinomas: Which Method has the Highest Prognostic Power and What Should be the Optimal Cut-off Value? 报告乳腺癌中的激素受体表达:哪种方法具有最高的预后能力,最佳临界值应该是多少?
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-04-01 Epub Date: 2024-09-08 DOI: 10.1177/10668969241265068
Çiğdem Öztürk, Oğuzhan Okcu, Seda Duman Öztürk, Bayram Şen, Ahmet Emin Öztürk, Recep Bedir
{"title":"Reporting Hormone Receptor Expression in Breast Carcinomas: Which Method has the Highest Prognostic Power and What Should be the Optimal Cut-off Value?","authors":"Çiğdem Öztürk, Oğuzhan Okcu, Seda Duman Öztürk, Bayram Şen, Ahmet Emin Öztürk, Recep Bedir","doi":"10.1177/10668969241265068","DOIUrl":"10.1177/10668969241265068","url":null,"abstract":"<p><p><b><i>Background</i></b>.Hormone receptor (HR) expression is a critical marker that plays a role in the treatment and management of breast cancer. Even if patients receive hormone treatment with a hormone positivity rate of over 1%, it is controversial at what level of positivity they benefit from treatment and contribute positively to their prognosis.<b><i>Methods</i></b>.We retrospectively examined the estrogen receptor (ER) / progesterone receptor (PR) expression status, clinicopathological findings, and survival data of 386 patients who underwent surgery for breast cancer. ER/PR expressions of the patients were evaluated according to Allred, H-score and were also grouped according to staining percentages. Separate cut-off values were determined for each of these evaluation methods, and the prognostic power of these methods was investigated using receiver operating characteristic analysis.<b><i>Results</i></b>.The prognostic power of all methods was found to be similar in terms of predicting survival. According to the staining percentage of the patients, survival was excellent if the ER value was >80% and the PR value was >1%.<b><i>Conclusions</i></b>.All recommended methods for reporting HRs have similar prognostic power. However, in patients with high percentage staining for ER using these methods, the prognosis is excellent. As a result, we predict that if the percentage of ER staining is low, changing the treatment management of patients may be considered clinically.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"353-362"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11915773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular Classification and Characterization of Noninsulinoma: Ready for Prime Time in Clinical Practice?
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-03-29 DOI: 10.1177/10668969251327748
Kaijian Zhang
{"title":"Molecular Classification and Characterization of Noninsulinoma: Ready for Prime Time in Clinical Practice?","authors":"Kaijian Zhang","doi":"10.1177/10668969251327748","DOIUrl":"https://doi.org/10.1177/10668969251327748","url":null,"abstract":"<p><p>Pancreatic neuroendocrine tumors are a heterogeneous group of rare clinical tumors, which can be classified into functional pancreatic neuroendocrine tumor (insulinoma is the most common) and noninsulinoma. Insulinoma and noninsulinoma have different mutation profiles. In noninsulinoma, <i>ATRX/DAXX</i> mutation is associated with alternative lengthening of telomeres-positive phenotype and positively correlated with poor prognosis. Copy number variation is also a prognostic marker for a high risk of recurrence. Scholars have used epigenetics as well as a multiomics approach (combining epigenetics, metabolomics, proteomics, etc) to molecularly type noninsulinoma, and there are huge differences in molecular expression and patient prognosis between different groups. In this manuscript, we summarize the published studies that utilized genome, epigenome, transcriptome, and proteome data to classify noninsulinoma.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251327748"},"PeriodicalIF":0.9,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Colonic Mucosal Schwann Cell Hamartoma With Ancient Change: A Deceptive Feature for a Rare Lesion.
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-03-25 DOI: 10.1177/10668969251327749
Ebubekir Ucar, Saroja Devi Geetha, Suganthi Soundararajan, Arvind Rishi, Deepika Savant
{"title":"Colonic Mucosal Schwann Cell Hamartoma With Ancient Change: A Deceptive Feature for a Rare Lesion.","authors":"Ebubekir Ucar, Saroja Devi Geetha, Suganthi Soundararajan, Arvind Rishi, Deepika Savant","doi":"10.1177/10668969251327749","DOIUrl":"https://doi.org/10.1177/10668969251327749","url":null,"abstract":"<p><p>Mucosal Schwann cell hamartomas are relatively rare, incidental, benign neural tumors of the colonic mucosa. They are characterized by an ill-defined proliferation of spindle cells in the lamina propria, are thought to originate from Schwann cells, and hence are diffusely positive for S100 immunostain. Mucosal Schwann cell hamartomas differ from neurofibromas and ganglioneuromas due to the absence of syndromic associations. Differentiating mucosal Schwann cell hamartomas from other mesenchymal lesions of the colon is clinically important due to their benign course and lack of syndromic associations. Schwannoma, another neural tumor, commonly shows ancient changes, which are defined by large, irregular hyperchromatic nuclei without atypical mitosis or necrosis. Here, we report a rare lesion of colonic mucosal Schwann cell hamartoma with ancient changes (as described in schwannomas) to increase awareness of histologic variations associated with mucosal Schwann cell hamartomas.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251327749"},"PeriodicalIF":0.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Incidence of Pseudoepitheliomatous Hyperplasia in Oral Granular Cell Tumors of Adults: An Independent Retrospective Analysis Utilizing a Novel Definition.
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-03-24 DOI: 10.1177/10668969251327743
Austin J Davies, Darren P Cox, Ricardo J Padilla
{"title":"Incidence of Pseudoepitheliomatous Hyperplasia in Oral Granular Cell Tumors of Adults: An Independent Retrospective Analysis Utilizing a Novel Definition.","authors":"Austin J Davies, Darren P Cox, Ricardo J Padilla","doi":"10.1177/10668969251327743","DOIUrl":"https://doi.org/10.1177/10668969251327743","url":null,"abstract":"<p><p><b>Background:</b> As most biopsy specimens are diagnosed by interpretation of glass slides, the diagnostic process is heavily reliant on subjective interpretation. Granular cell tumors have a widely reported incidence of a pathological phenomenon termed pseudoepitheliomatous hyperplasia. <b>Aim:</b> The study's primary focus was to determine the incidence of pseudoepitheliomatous hyperplasia in granular cell tumors in adults using a novel definition. <b>Methods:</b> A review of the existing literature provided a foundation for a novel definition of pseudoepitheliomatous hyperplasia. Two oral pathology laboratories' archived material were queried to yield 70 specimens matching inclusion criteria. Two board certified Oral and Maxillofacial Pathologists were employed as observers, calibrated on the novel definition using control specimens, and then a blind review was performed. Statistical analyses were performed via Kappa statistical agreement and Fischer's 2-way exact tests. <b>Results:</b> Use of the novel definition resulted in agreement in 97.4% of specimens. The Kappa agreement was 0.939 with a standard error of 0.043 and a 95% confidence interval from 0.856 to 1.0. Landis and Koch's standards for strength of agreement was \"almost perfect.\" Pseudoepitheliomatous hyperplasia was found at a rate of 36.8%. Women made up 79.4% of the study population and the average age was 45 years. Intraorally 91.8% of lesions occurred on the tongue and buccal mucosa. And 93.30% of lateral tongue granular cell tumors occurred in women. <b>Conclusion:</b> Using a definition prior to evaluating subjective histologic criteria resulted in \"almost perfect\" interobserver statistical reliability. Our definition of pseudoepitheliomatous hyperplasia proved to be reliable and should be further tested.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251327743"},"PeriodicalIF":0.9,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Utility of Mobile 3D Scanner Applications in Gross Pathology Examination: The Future of Macroscopy?
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-03-24 DOI: 10.1177/10668969251329551
Meredith K Herman, Casey P Schukow, Mustafa Yousif
{"title":"Utility of Mobile 3D Scanner Applications in Gross Pathology Examination: The Future of Macroscopy?","authors":"Meredith K Herman, Casey P Schukow, Mustafa Yousif","doi":"10.1177/10668969251329551","DOIUrl":"https://doi.org/10.1177/10668969251329551","url":null,"abstract":"","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251329551"},"PeriodicalIF":0.9,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Benign Pathologies Encountered in the Whipple Pancreatico-Duodenectomy Specimen- 11-Year Experience from a Tertiary Care Center.
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-03-19 DOI: 10.1177/10668969251323932
Sunayana Misra, Vrushali Mahajan, Surbhi Kansal, Divya Khaitan, Seema Rao, Sonia Badwal, Samiran Nundy, Kishan Rawat, Shashi Dhawan
{"title":"Benign Pathologies Encountered in the Whipple Pancreatico-Duodenectomy Specimen- 11-Year Experience from a Tertiary Care Center.","authors":"Sunayana Misra, Vrushali Mahajan, Surbhi Kansal, Divya Khaitan, Seema Rao, Sonia Badwal, Samiran Nundy, Kishan Rawat, Shashi Dhawan","doi":"10.1177/10668969251323932","DOIUrl":"https://doi.org/10.1177/10668969251323932","url":null,"abstract":"<p><p>IntroductionPancreaticoduodenectomy is the standard treatment for resectable pancreatic head malignancies and other ampullary/peri-ampullary lesions. It is also the standard of care for symptomatic relief in chronic pancreatitis. However, despite advancements in diagnostic modalities, some lesions that are clinically suspicious for malignancy may reveal a surprising benign pathology. Thus, various neoplastic and non-neoplastic lesions are encountered in the pancreaticoduodenectomy specimens.MethodsPancreaticoduodenectomy specimens received at our institute over a period of 11 years were retrieved. Only those patients with a final diagnosis of benign neoplastic or non-neoplastic disease were included in the study. The clinical data, age, sex, presenting complaint, relevant imaging, cyst fluid cytology, and preoperative tissue diagnosis wherever available, were recorded. Patients with a preoperative malignant diagnosis for which pancreaticoduodenectomy was performed and subsequently turned out to be benign/non-neoplastic were analyzed for possible preoperative diagnostic pitfalls.ResultsBenign tumors and non-neoplastic lesions together comprised 8% of the total patients. Serous cystic neoplasm was the most common benign tumor while the most common non-neoplastic entity was chronic pancreatitis. Concordance of preoperative fine-needle aspiration cytology diagnosis with the final histopathological diagnosis was noted in 44% patients. Other rare <b>lesions</b> such as choledochocele, arteriovenous malformation, and adenomyomatous hyperplasia of the common bile duct were also encountered.ConclusionIn this study, we highlight the spectrum of benign neoplastic and non-neoplastic lesions encountered in pancreaticoduodenectomy specimens at a tertiary care center, emphasizing on those lesions that were clinically suspicious for malignancy and revealed a surprising benign diagnosis on the final surgical pathology excision specimen.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251323932"},"PeriodicalIF":0.9,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Critical Role of Minor Histological Patterns in Prognosis Prediction in Early-Stage Lung Adenocarcinomas.
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-03-19 DOI: 10.1177/10668969251326257
Mehmet Çetin, Göktürk Fındık, İlteriş Türk, Necati Solak, Yetkin Ağaçkıran, Koray Aydoğdu
{"title":"The Critical Role of Minor Histological Patterns in Prognosis Prediction in Early-Stage Lung Adenocarcinomas.","authors":"Mehmet Çetin, Göktürk Fındık, İlteriş Türk, Necati Solak, Yetkin Ağaçkıran, Koray Aydoğdu","doi":"10.1177/10668969251326257","DOIUrl":"https://doi.org/10.1177/10668969251326257","url":null,"abstract":"<p><p>Lung adenocarcinomas often contain multiple histological components. This study discusses the role of minor components in the progression of the disease. A retrospective evaluation was conducted on 108 patients with lung adenocarcinoma who underwent surgery at our center between 2013 and 2018, with tumor sizes less than 3 cm. The patients were categorized into four groups based on the presence of lepidic (L) and micropapillary/solid (MP/S) patterns at a minimum threshold of 5% (\"L+, MP/S-\", \"L+, MP/S+\", \"L-, MP/S-\", \"L-, MP/S+\"). The groups were compared in terms of standard uptake value, pleural invasion, lymphovascular invasion, perineural invasion, spread through air spaces, N1-N2 station lymph node metastasis, recurrence, and survival. No tumors of perineural invasion, spread through air spaces, or lymph node metastasis was observed in the \"L+, MP/S-\" group, and lymphovascular invasion was found to be significantly lower compared to other groups (p = 0.040). The standard uptake value levels in groups containing the lepidic pattern were significantly lower than in other groups (p = 0.006). The time to recurrence in the \"L+, MP/S-\" group was 121.5 ± 10.9 months, with a median survival time of 110.9 ± 10.6 months, which was longer compared to the other groups (86.2 ± 5.9 and 77 ± 13.4 months). In lung adenocarcinomas, prognosis estimation should be based not only on the dominant component but also on the presence of histological components such as lepidic and micropapillary/solid, even if they are minor.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251326257"},"PeriodicalIF":0.9,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case Report of INI1 Loss and SMARCB1 Mutation in Hereditary Succinate Dehydrogenase-Deficient Renal Cell Carcinoma.
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-03-17 DOI: 10.1177/10668969251326254
Tung Nguyen, Melissa Tjota, Peng Wang, Antic Tatjana
{"title":"A Case Report of INI1 Loss and <i>SMARCB1</i> Mutation in Hereditary Succinate Dehydrogenase-Deficient Renal Cell Carcinoma.","authors":"Tung Nguyen, Melissa Tjota, Peng Wang, Antic Tatjana","doi":"10.1177/10668969251326254","DOIUrl":"https://doi.org/10.1177/10668969251326254","url":null,"abstract":"<p><p>Secondary loss of INI1 immunohistochemical staining has been observed in various types of renal cell carcinoma (RCC), including <i>TFE3</i>-rearranged, fumarate hydratase-deficient RCC, and collecting duct carcinoma. We report the first tumor of secondary INI1 loss with <i>SMARCB1</i> gene alteration in hereditary succinate dehydrogenase (SDH)-deficient RCC that presented in a 39-year-old woman with a germline <i>SDHB</i> mutation. The tumor appeared as a tan-brown mass with focal hemorrhage, infiltrating the renal sinus and perinephric adipose tissue. Microscopically, it showed diverse architectural patterns, including solid, tubular, pseudopapillary, and sarcomatoid areas with focal necrosis. The stroma showed sclerotic and hyalinized changes with osseous metaplasia. Immunohistochemistry for SDHB was lost throughout, despite the tumor showing nonclassic cytomorphology for SDH-deficient RCC. INI1 retention was noted in low-grade areas, while it was lost in high-grade regions. Next-generation sequencing identified a pathogenic <i>SDHB</i> variant (p.C191Y, VAF 77%) and an <i>SMARCB1</i> variant (p.P146Mfs33*, VAF 46%).</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251326254"},"PeriodicalIF":0.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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