International Journal of Surgical Pathology最新文献

{"title":"Primary Renal Sclerosing Epithelioid Fibrosarcoma With <i>EWSR1::CREB3L1</i> Fusion: A Diagnostic Pitfall With a Comprehensive Review of Reported Patients.","authors":"Ayoub Nahal, Jessica Jahoda, Waleed Hassen, Mohamed Aziz","doi":"10.1177/10668969261444687","DOIUrl":"https://doi.org/10.1177/10668969261444687","url":null,"abstract":"<p><p>Sclerosing epithelioid fibrosarcoma (SEF) is a rare malignant soft tissue sarcoma with morphologic and molecular overlap with low-grade fibromyxoid sarcoma (LGFMS). Although most commonly arising in deep soft tissues, primary involvement of the kidney is exceptionally uncommon and represents a significant diagnostic pitfall. We report a primary renal SEF in a 22-year-old woman, characterized by classic histomorphology, diffuse MUC4 immunoreactivity, and definitive molecular confirmation by next-generation sequencing demonstrating an <i>EWSR1::CREB3L1</i> fusion. Radiologic evaluation revealed a solid renal mass suspicious for malignancy, prompting partial nephrectomy. Histologically, the tumor was composed of epithelioid and spindle cells embedded in a densely sclerotic stroma with characteristic filigree collagen. Accurate recognition of renal SEF is critical, as it may be misdiagnosed as sarcomatoid renal cell carcinoma, sclerosing clear cell sarcoma of the kidney, epithelioid angiomyolipoma, or other primary renal neoplasms. In addition, a comprehensive review of the literature was performed. Including recently reported tumors identified within molecularly characterized series, a total of 19 patients with primary renal SEF have been documented to date. Notably, within the genitourinary tract, available data suggest a relative predilection for renal involvement. This tumor confirms the broad anatomic spectrum of SEF and underscores the essential role of MUC4 immunohistochemistry and molecular testing in the evaluation of renal tumors with epithelioid cytology and prominent stromal sclerosis.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261444687"},"PeriodicalIF":1.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837452","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}

{"title":"Mixed Large Cell Neuroendocrine Carcinoma and Adenocarcinoma of the Cervix: A Rare Entity.","authors":"Zheng Guona, Shi Yabin, Du Qian, Liu Yang, Su Luyang, Zhao Huanfen, Kang Lin","doi":"10.1177/10668969261436420","DOIUrl":"https://doi.org/10.1177/10668969261436420","url":null,"abstract":"<p><p>Carcinoma admixed with neuroendocrine carcinoma of the cervix is a rare malignant tumor with high malignancy and poor prognosis, of which large cell neuroendocrine carcinoma with adenocarcinoma are particularly rare, which have been reported limitedly in the literature. Currently, in most specimens, this disease is identified as a human papillomavirus (HPV)-related tumor. In the present study, we report a patient with mixed large cell neuroendocrine carcinoma and adenocarcinoma of the cervix, in which the molecular characterization of the lesion highlighted the ubiquitous presence of HPV18 DNA in both the adenocarcinomatous and neuroendocrine components, suggesting a potential pathogenic role of the virus. And 2 years later, the large cell neuroendocrine carcinoma component but not the adenocarcinoma component of the tumor progressed to cervical lymph node metastasis. Because large cell neuroendocrine carcinoma is known to exhibit early metastasis and extremely poor prognosis, it is important to carefully detect the large cell neuroendocrine carcinoma component in cervical cancer. Therefore, accurate diagnosis coupled with a comprehensive literature review is essential to supplement epidemiological data and facilitate the development of standardized treatment strategies.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261436420"},"PeriodicalIF":1.0,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837522","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}

{"title":"Congenital Rapidly Progressive Perianal Embryonal Rhabdomyosarcoma With Spindle Cell Morphology: A Rare Presentation.","authors":"Vandna Yadav, Pradeep Gupta, Kiran Saini, Arpita Jindal, Anu Bhandari","doi":"10.1177/10668969261441765","DOIUrl":"https://doi.org/10.1177/10668969261441765","url":null,"abstract":"<p><p>This report describes a 2-day-old male infant who presented with a perianal swelling since birth. The swelling was painless, exhibited a soft to firm consistency, and progressively increased in size over a period of 2 months. The perianal region is an uncommon location for rhabdomyosarcoma, accounting for approximately 2% of all tumours. Diagnostic workup included MRI of the abdomen, which revealed a 4.7 × 2.7 × 2.5 cm heterogeneous soft tissue mass in the perineum extending into the pelvis. Histopathological examination demonstrated lesional spindle and round cells with striations in the spindle cells. Immunohistochemical analysis showed diffuse positivity for desmin and MYOD1, with focal positivity for myogenin and a MKI67 proliferation index of 30%, leading to a final diagnosis of embryonal rhabdomyosarcoma with spindle cell morphology (ERMS). This study highlights the rarity of this presentation and underscores the critical role of immunohistochemical markers in the accurate diagnosis of ERMS at unusual locations.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261441765"},"PeriodicalIF":1.0,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837765","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}

{"title":"Extracavitary Primary Effusion Lymphoma: Diagnostic Challenges and Differential Diagnosis in a Resource-Constrained South African Setting.","authors":"Absalom Mwazha, Bonginkosi Gamalenkosi Nhlonzi","doi":"10.1177/10668969261442155","DOIUrl":"https://doi.org/10.1177/10668969261442155","url":null,"abstract":"<p><p>AimsPrimary effusion lymphoma (PEL) is an aggressive, human herpesvirus 8 (HHV8)-associated large B-cell lymphoma characterised by malignant effusions in serous cavities (classic PEL). However, a subset of tumours may present exclusively as solid masses, referred to as extracavitary primary effusion lymphoma (EC-PEL). Despite the high regional prevalence of human immunodeficiency virus (HIV) and Kaposi sarcoma-associated virus /HHV8, PEL is likely under-reported in Sub-Saharan Africa. This study reports on the clinicopathologic features and differential diagnoses of EC-PEL.MethodsA retrospective review of biopsies with a diagnosis of PEL from 2010 to 2019 was performed. Seven patients met the 2024 WHO criteria for PEL. Clinical information was collected and histopathological and immunohistochemical features were reviewed independently.ResultsSeven patients with a median age of 38 years (range, 25-51 years) were identified. Most patients were men (86%), and all were Black African. Five patients (71%) were living with HIV, with CD4 + counts ranging from 137 to 348 cells/µL. Tumour sites were lymph nodes, stomach, maxillary sinus, and soft tissue. All tumours showed diffuse sheets of plasmablastic or immunoblastic cells. Immunohistochemistry showed expression of plasma-cell markers (VS38C, CD138), lacked pan B-cell markers (CD20 and PAX5), and had high proliferative indices (Ki-67: 90-95%). All tumours were positive for HHV8 (LANA-1) and EBER in situ hybridisation was positive in 86%.ConclusionExtracavitary PEL in Sub-Saharan Africa exhibits the characteristic clinicopathologic profile described globally and remains strongly associated with HIV-related immunosuppression. Improved recognition of this rare but aggressive lymphoma can be achieved with increased awareness of the diagnosis and improved access to HHV8 immunohistochemistry.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261442155"},"PeriodicalIF":1.0,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837877","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}

{"title":"Invasive Micropapillary Carcinoma of the Breast with an Encapsulated-Like Pattern: An Unreported Entity?","authors":"Yusuf Aboul-Nasr, Clare F Hartman, Marilin Rosa, Heba Saad, Saeed Bajestani, Sepideh Mehravaran","doi":"10.1177/10668969261444680","DOIUrl":"https://doi.org/10.1177/10668969261444680","url":null,"abstract":"<p><p>Invasive micropapillary carcinoma (IMPC) is a rare subtype of breast cancer, characterized by infiltrative growth and morula-like cell aggregates without fibrovascular cores. We recently encountered an unusual invasive breast carcinoma with a thick fibrous capsule resembling encapsulated papillary carcinoma but with micropapillary features. A 71-year-old woman presented with a palpable mass in the left breast. MRI revealed a 10 cm enhancing oval mass. Core needle biopsy was performed to diagnose invasive carcinoma with micropapillary features [estrogen receptor (ER) and progesterone receptor (PR)<b>-</b>positive, HER2-negative]. The patient received neoadjuvant chemotherapy, followed by a mastectomy with sentinel lymph node biopsy. The mastectomy revealed a well-circumscribed 11 cm mass surrounded by a fibrous capsule. The tumor consisted of tubulo-micropapillary structures without fibrovascular cores, lined by a single layer of cuboidal cells containing nests of foamy macrophages. Rare foci of lymphovascular invasion were observed. Two sentinel lymph nodes were negative. To our knowledge, invasive micropapillary carcinoma with an encapsulated pattern has not been previously reported.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261444680"},"PeriodicalIF":1.0,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837451","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}

{"title":"Myxoid Dermatofibrosarcoma Protuberans With Giant Cell Fibroblastoma Features in an Adult: Case Report and Review.","authors":"Chenxu Shi, Ahmed Lazim, Paul J Zhang","doi":"10.1177/10668969261438516","DOIUrl":"https://doi.org/10.1177/10668969261438516","url":null,"abstract":"<p><p>Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade cutaneous sarcoma with a high local recurrence rate but low metastatic potential. The myxoid subtype of DFSP is exceptionally rare, and its occurrence with giant cell fibroblastoma features, particularly in adults, is even more uncommon, presenting diagnostic challenges. We describe a 32-year-old man with a myxoid DFSP exhibiting giant cell fibroblastoma features. The diagnosis was confirmed by immunohistochemistry and fluorescence <i>in situ</i> hybridization (FISH) for <i>PDGFB</i> rearrangement. This report highlights the diagnostic challenges in this rare entity and emphasizes the importance of molecular confirmation.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261438516"},"PeriodicalIF":1.0,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837486","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}

{"title":"A Rare Case Report of Renal Hilar Teratoma Associated With a Well-Differentiated Neuroendocrine Tumor and High-Grade Upper Urinary Tract Urothelial Carcinoma.","authors":"Birgül Tok, Doğan Sabri Tok, Erhan Demirelli, Ercan Öğreden, Ural Oğuz, Hüseyin Batur","doi":"10.1177/10668969261439153","DOIUrl":"https://doi.org/10.1177/10668969261439153","url":null,"abstract":"<p><p>Teratomas are rare germ cell neoplasms composed of elements derived from all three germ layers, which are most commonly encountered in childhood. Renal teratomas in adults are exceedingly uncommon, and involvement of the renal hilar region is exceptionally rare. We present a 70-year-old man with a renal hilar (retroperitoneal) mature teratoma containing a well-differentiated neuroendocrine tumor coexisting with a high-grade upper urinary tract urothelial carcinoma. Preoperative imaging revealed distinct lesions in the renal hilum and distal ureter. Histopathological examination demonstrated a mature teratoma with a well-differentiated neuroendocrine component, separate from the urothelial carcinoma. This report highlights the importance of recognizing unusual mixed neoplasms in the renal hilar region and emphasizes the value of comprehensive radiologic and pathologic assessment in adult patients presenting with atypical retroperitoneal masses. This report represents the first documented instance of a renal hilar mature teratoma harboring a well-differentiated neuroendocrine tumor coexisting with a high-grade upper urinary tract urothelial carcinoma. Such an unusual presentation underscores the diagnostic complexity of these lesions and reinforces the need for multidisciplinary evaluation. Teratoma should be included in the differential diagnosis of incidentally detected renal hilar masses in adults.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261439153"},"PeriodicalIF":1.0,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837802","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}

{"title":"<i>NF2</i>-mutated Renal Cell Carcinoma: Clinicopathologic and Molecular Characterization of Two Additional Tumors Highlighting Morphologic Heterogeneity and Potential Aggressive Behavior.","authors":"Ming Zhao, Juanjuan Wang, Suying Wang, Rong Fang, Huizhi Zhang, Yiyu Liu","doi":"10.1177/10668969261438517","DOIUrl":"https://doi.org/10.1177/10668969261438517","url":null,"abstract":"<p><p><i>NF2</i> gene alterations are significant drivers in a subset of renal cell carcinomas (RCCs), associated with high-grade morphology, aggressive behavior, and features overlapping with biphasic hyalinizing psammomatous RCC (BHP RCC). We report two examples of <i>NF2</i>-mutated RCC to advance understanding of this entity. Both were female patients in their sixth decade with incidental, solid renal masses (3.2 and 3.0 cm). Both tumors had high-grade nuclei and infiltrative growth but distinct architectures: tumor #1 showed solid nests, tubules, and a focal BHP RCC-like biphasic pattern; tumor #2 featured solid, elongated tubulotrabeculae with spindling and peritubular basement membrane material. Both had sclerotic stroma. Immunohistochemistry showed positivity for PAX8, keratin 7, vimentin, and AMACR (tumor #2: focal TFE3). Targeted next-generation sequencing identified pathogenic somatic <i>NF2</i> mutations in both tumors: a nonsense mutation (c.235A>T, p.Lys79*) in tumor #1 (validated by Sanger sequencing) and a splice-site mutation (c.600-1G>A) with concurrent chromosome 22 deletion (confirming biallelic inactivation) in tumor #2. Subsequent merlin immunohistochemistry showed loss of expression. <i>TFE3</i>/<i>TFEB</i> rearrangements were absent. Patient #1 developed widespread metastases within 7 months and received immunotherapy; patient #2 remains disease-free at short-term follow-up. These tumors highlight the broad morphological heterogeneity within <i>NF2</i>-mutated RCC and underscore the necessity of an integrated diagnostic approach combining histology, immunohistochemistry (especially merlin loss), and molecular confirmation. Recognizing this entity is critical for accurate classification and for guiding potential therapeutic strategies, including immune checkpoint inhibitors.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261438517"},"PeriodicalIF":1.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837752","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}

{"title":"Retroperitoneal Schwannoma with a Novel <i>PRCC::TFE3</i> Fusion: Expanding the Spectrum of Schwannomas with a <i>TFE3</i> Gene Rearrangement.","authors":"Kyle D Perry, Rohit Mehra, Ann Leathersich, Eman Abdulfatah, Douglas Rottmann, Shula Schechter, Jonathan McHugh, Suguna P Narayan, Christina V Angeles, Rashmi Chugh, Kyle Conway, Noah Brown","doi":"10.1177/10668969261442124","DOIUrl":"https://doi.org/10.1177/10668969261442124","url":null,"abstract":"<p><p>Although historically associated with the inactivation of the <i>NF2</i> gene, a minority of schwannomas have recently been found to exhibit fusion transcripts, such as <i>SH3PXD2A::HTRA1</i>, <i>NONO::TFE3</i>, or <i>VGLL</i> fusions. Herein, we report a large retroperitoneal schwannoma exhibiting a <i>PRCC::TFE3</i> fusion. Histologically, this tumor contained distinctive large epithelioid cells with granular cytoplasm, but also exhibited degenerative features often associated with schwannoma, such as perivascular hyalinization and hemosiderin deposition. The cells were positive for SOX10, showed robust TRIM63 expression, and were focally positive for HMB45. Methylation profiling confirmed that the tumor was of Schwann cell differentiation. Following complete surgical resection, the patient has experienced no recurrence to date. As MiT family translocation-associated renal cell carcinoma and alveolar soft part sarcoma can also exhibit a <i>PRCC::TFE3</i> fusion, awareness of this rare schwannoma subtype is vital in ensuring it is not mistaken for a more aggressive neoplasm.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261442124"},"PeriodicalIF":1.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837629","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}

{"title":"The Role of Digital Pathology in Optimizing the Quality and Timeliness of Intraoperative Consultation.","authors":"Payam S Pahlavan","doi":"10.1177/10668969261438510","DOIUrl":"https://doi.org/10.1177/10668969261438510","url":null,"abstract":"<p><p>BackgroundIntraoperative consultation using frozen sections has been crucial for guiding surgical decisions, but has often been limited by the time and financial costs associated with pathologists traveling to remote sites. The recent regulatory approval of whole-slide imaging for primary diagnosis has positioned digital pathology as the primary solution to overcome these logistical barriers and reduce diagnostic turnaround time during surgery.MethodsThis article reviews the current state of whole-slide imaging -based telepathology for intraoperative consultation, synthesizing evidence regarding its diagnostic safety, long-term efficiency, necessary implementation requirements, and emerging role of artificial intelligence.ResultsWhole-slide imaging for telepathology demonstrates diagnostic accuracy and efficiency comparable to conventional optical microscopy. The implementation of a digital pathology system requires a holistic strategy built upon 3 pillars: assembling an inter-institutional team, conducting thorough resource and financial assessments, and fulfilling rigorous information technology and infrastructure requirements. Furthermore, whole-slide imaging facilitates remote consultation and is crucial for equitable healthcare access in underserved regions. Technical challenges, such as scanning artifacts and suboptimal frozen section quality, must be mitigated through dedicated quality control and staff training.ConclusionWhole-slide imaging -based telepathology is a safe, efficient, and cost-effective solution for optimizing intraoperative consultation, significantly benefiting patient care by expediting diagnosis and broadening access to expert consultation. Achieving maximal utility requires rigorous quality assurance documentation (including quantifying tissue and noting scanning artifacts) to manage technical pitfalls. Future developments, particularly multifunctional artificial intelligence platforms, will further enhance image quality and provide computer-assisted diagnostic support, solidifying digital pathology's role as the foundation for modern surgical pathology.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969261438510"},"PeriodicalIF":1.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837647","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}