International Journal of Surgical Pathology最新文献

筛选
英文 中文
A Rare Presentation of Alveolar Soft Part Sarcoma in the Bladder. 一例罕见的膀胱肺泡软组织肉瘤。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-12 DOI: 10.1177/10668969251348240
Kemal Kayar, Meryem Bera Dogan, Emre Karabay
{"title":"A Rare Presentation of Alveolar Soft Part Sarcoma in the Bladder.","authors":"Kemal Kayar, Meryem Bera Dogan, Emre Karabay","doi":"10.1177/10668969251348240","DOIUrl":"https://doi.org/10.1177/10668969251348240","url":null,"abstract":"<p><p>Alveolar soft part sarcoma (ASPS) is a rare and distinctive subtype of soft tissue sarcoma accounting for <1% of all sarcomas. Characterized by the t(X;17)(p11;q25) translocation, it typically affects the extremities in younger individuals. This case report presents a bladder ASPS in a 45-year-old woman, a rare occurrence, developing as a second primary malignancy following breast cancer treatment. Histopathological analysis, immunohistochemistry and molecular diagnostics confirmed the diagnosis. The patient underwent partial cystectomy with clear surgical margins and remained recurrence-free 38 months post-resection. This report highlights the diagnostic challenges, therapeutic strategies, and the importance of long-term surveillance for bladder ASPS.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251348240"},"PeriodicalIF":0.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274859","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
Intraparenchymal Epidermal Inclusion Cyst Within a Fibroadenoma in the Breast: A Case Report. 乳腺纤维腺瘤内肺实质内表皮包涵囊肿1例报告。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-12 DOI: 10.1177/10668969251343219
Narges Yamini, Mohammad Rezaei Zadeh Rukerd, Hanieh Mirkamali, Chang Dongkun
{"title":"Intraparenchymal Epidermal Inclusion Cyst Within a Fibroadenoma in the Breast: A Case Report.","authors":"Narges Yamini, Mohammad Rezaei Zadeh Rukerd, Hanieh Mirkamali, Chang Dongkun","doi":"10.1177/10668969251343219","DOIUrl":"https://doi.org/10.1177/10668969251343219","url":null,"abstract":"<p><p>Epidermal inclusion cysts are benign lesions that arises from the proliferation and entrapment of epidermal elements within the dermis, characterized by a lining of stratified squamous epithelium and an accumulation of keratin debris. While epidermal inclusion cysts are commonly located in areas such as the scalp and neck, their occurrence in the breast is rare. In some instances, the cyst can arise in atypical locations, including the nipple and parenchyma.This report presents a 40-year-old female patient who presented with a progressively enlarging lump in the right breast, initially diagnosed as a fibroadenoma through core needle biopsy 2 years after initial presentation. Imaging studies revealed a circumscribed mass, leading to surgical excision. Histopathological examination confirmed the presence of an intraparenchymal epidermal inclusion cyst within the fibroadenoma, a notable finding given its uncommon localization. This report emphasizes the necessity for thorough evaluation of breast masses and highlights the potential for epidermal inclusion cysts to occur in unusual presentations, contributing to the understanding of their pathogenesis and clinical implications in breast health.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251343219"},"PeriodicalIF":0.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274860","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
Primary Adrenal Sarcomas: Diagnostic Challenges and Therapeutic Insights From a Case Series Including Leiomyosarcoma and Epithelioid Angiosarcoma. 原发性肾上腺肉瘤:来自平滑肌肉瘤和上皮样血管肉瘤的诊断挑战和治疗见解。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-11 DOI: 10.1177/10668969251345715
Busra Yaprak Bayrak, Levente Kuthi, Isa Cam, Cigdem Vural, Mahmut Akgul
{"title":"Primary Adrenal Sarcomas: Diagnostic Challenges and Therapeutic Insights From a Case Series Including Leiomyosarcoma and Epithelioid Angiosarcoma.","authors":"Busra Yaprak Bayrak, Levente Kuthi, Isa Cam, Cigdem Vural, Mahmut Akgul","doi":"10.1177/10668969251345715","DOIUrl":"https://doi.org/10.1177/10668969251345715","url":null,"abstract":"<p><p>Primary adrenal leiomyosarcoma and primary adrenal epithelioid angiosarcoma are exceptionally rare mesenchymal tumors of the adrenal gland. Both typically present as unilateral, nonfunctional adrenal masses and may closely resemble other adrenal or metastatic tumors, thus making diagnosis challenging. Immunohistochemical analysis is essential for accurate classification and clinical decision-making. We report two primary adrenal leiomyosarcomas and one primary adrenal epithelioid angiosarcoma, all occurring in elderly female patients without initial evidence of extra-adrenal disease. The leiomyosarcomas demonstrated spindle cell morphology with strong expression of smooth muscle markers and variable proliferative activity, including one patient that progressed to hepatic metastasis. The epithelioid adrenal angiosarcoma exhibited epithelioid features, extensive necrosis, diffuse CD31 and ERG positivity, and focal keratin expression. Complete surgical resection was achieved in all patients. These patients highlight the diagnostic complexity and prognostic variability of adrenal sarcomas. Documenting such rare tumors remains critical to improving diagnostic precision and guiding optimal management strategies.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251345715"},"PeriodicalIF":0.9,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266207","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
Artificial Intelligence Quantitation of Steatosis on Frozen Section Preimplant Slides Correlates with Some Liver Transplant Outcomes. 人工智能定量分析冷冻切片植入前载玻片脂肪变性与肝移植预后相关。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-11 DOI: 10.1177/10668969251344970
Suaka Kue, Laura Budvytyte, Mariah L Schroeder, Alyssa K McGary, Rish K Pai, Marcela A Salomao, Karlie Smith, Margaret S Ryan, Chirag Patel, Maxwell L Smith, Rolland Dickson
{"title":"Artificial Intelligence Quantitation of Steatosis on Frozen Section Preimplant Slides Correlates with Some Liver Transplant Outcomes.","authors":"Suaka Kue, Laura Budvytyte, Mariah L Schroeder, Alyssa K McGary, Rish K Pai, Marcela A Salomao, Karlie Smith, Margaret S Ryan, Chirag Patel, Maxwell L Smith, Rolland Dickson","doi":"10.1177/10668969251344970","DOIUrl":"https://doi.org/10.1177/10668969251344970","url":null,"abstract":"<p><p><i>Introduction.</i>Increased steatosis on preimplant liver frozen section is associated with delayed graft function and primary nonfunction. Efforts to standardize histologic assessment have proven difficult. Frozen section artifact and lipopeliosis complicate the detection of steatosis. We aimed to develop and validate an AI model to recognize large droplet fat and fat induced artifact (FIA)/lipopeliosis on preimplantation frozen section and to correlate the AI results with post-transplant clinical parameters.<i>Methods.</i>The model was applied to 161 consecutive liver transplant specimens with preimplant slides. Results were correlated with traditional and Banff histologic assessment and clinical parameters.<i>Results.</i>By traditional assessment, steatosis ranged from 0%-40%. The AI model identified a range of 0 to 15.9% steatosis. There was no difference in patient survival by any measures of steatosis. AI steatosis correlated with increased risk of early allograft dysfunction (OR = 1.63, <i>P</i> < .001), respiratory failure (OR = 1.21, <i>P</i> = .003), and more advanced fibrosis (OR = 1.18, <i>P</i> = .030), but was not correlated with graft or patient survival. FIA/lipopeliosis were identified in a range of 0 to 6.42%. In univariate analysis the percentage of FIA/lipopeliosis correlated with both graft and patient survival (<i>P</i> = .044 and <i>P</i> = .009, respectively), but was not associated with increased risk of early allograft dysfunction, respiratory failure, or advanced fibrosis.<i>Conclusions.</i>We developed an AI model that quantitates large droplet fat and FIA/lipopeliosis on frozen section slides and found a correlation with post-transplant outcomes. Further studies on larger, multi-institutional cohorts with higher fat containing donors are necessary to determine the role this model may have in organ acceptance decisions.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251344970"},"PeriodicalIF":0.9,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266205","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
Diagnostic Challenges in Identifying Concurrent Myeloid Sarcoma and High-Grade Prostatic Adenocarcinoma Within the Prostate. 鉴别前列腺内并发髓样肉瘤和高级别前列腺腺癌的诊断挑战。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-11 DOI: 10.1177/10668969251344965
Ting Zhao, Judith A Ferry, James L Netreba, Kristine M Cornejo
{"title":"Diagnostic Challenges in Identifying Concurrent Myeloid Sarcoma and High-Grade Prostatic Adenocarcinoma Within the Prostate.","authors":"Ting Zhao, Judith A Ferry, James L Netreba, Kristine M Cornejo","doi":"10.1177/10668969251344965","DOIUrl":"https://doi.org/10.1177/10668969251344965","url":null,"abstract":"<p><p>Myeloid sarcoma is an extramedullary mass lesion composed of myeloid blasts that disrupt tissue architecture. Myeloid sarcoma in the prostate is exceptionally rare, with fewer than 30 patients reported. Among these, 8 have been observed without a prior diagnosis of a hematolymphoid neoplasm. To date, concurrent prostatic myeloid sarcoma and adenocarcinoma have not been documented in the English-language literature. We present the first 2 myeloid sarcomas in the prostate occurring concurrently with high-grade prostatic adenocarcinoma, identified on core needle biopsy and radical prostatectomy in patients without a prior history of myeloid sarcoma or acute myeloid leukemia (AML), and highlight the associated diagnostic challenges. Both were positive for NPM1 by immunohistochemistry, consistent with <i>NPM1</i> mutation. Neither patient received treatment for myeloid sarcoma/AML due to multiple comorbidities. One patient succumbed to the disease 44 days after diagnosis, while the other passed away from respiratory failure in the context of multiple comorbidities 2 months after being diagnosed with myeloid sarcoma.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251344965"},"PeriodicalIF":0.9,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266206","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
Study of WNT and NOTCH Signaling Pathways in Hepatoblastoma: Role in Diagnosis and Prognosis. 肝母细胞瘤中WNT和NOTCH信号通路的研究:在诊断和预后中的作用
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-10 DOI: 10.1177/10668969251346938
Tripti Nakra, Mohamed Jassim, Rajni Yadav, Sandeep Agarwala, Prasenjit Das, Nilima Nilima, Vishnubhatla Sreenivas, Anita Chopra, S Dattagupta, Venkateswaran K Iyer
{"title":"Study of WNT and NOTCH Signaling Pathways in Hepatoblastoma: Role in Diagnosis and Prognosis.","authors":"Tripti Nakra, Mohamed Jassim, Rajni Yadav, Sandeep Agarwala, Prasenjit Das, Nilima Nilima, Vishnubhatla Sreenivas, Anita Chopra, S Dattagupta, Venkateswaran K Iyer","doi":"10.1177/10668969251346938","DOIUrl":"https://doi.org/10.1177/10668969251346938","url":null,"abstract":"<p><p><i>Background.</i> Hepatoblastoma has an aggressive course in a subset of children. Studying various markers related to the signaling pathways can aid in understanding its pathogenesis at the molecular level and may pave the way for targeted therapy. We conducted this study to evaluate the immunohistochemical expression of markers related to WNT and NOTCH signaling pathways in hepatoblastoma and to compare them among its histological subtypes. <i>Methods.</i> The specimens of hepatoblastoma diagnosed over a period of 8 years were retrieved. Clinicoradiological data was obtained. Slides were reviewed and detailed histopathological parameters, diagnosis, and subtypes were reevaluated. Immunohistochemistry for β-catenin, CCND1<i>,</i> glutamine synthetase, MYC, AXIN2, NOTCH2, DLK1, and HES1 was performed. Statistical analysis was done. <i>Results.</i> A total of 51 samples of hepatoblastoma were included in the study. Mixed epithelial-mesenchymal hepatoblastoma was the most common histologic subtype. PRETEXT IV, high-risk group, high mitotic index, and less differentiated histologic subtype were associated with worse outcomes. β-catenin, AXIN2, CCND1<i>,</i> expression was more in less differentiated subtypes. MYC, HES1, and glutamine synthetase expression was more common in the fetal component. NOTCH2 and DLK1 expression was seen across all types. A statistically significant association was observed among AXIN2 expression with β-catenin, CCND1, and MYC nuclear expression. Mean overall survival was 66.6 months and mean event-free survival was 54.7 months. <i>Conclusions.</i> The NOTCH pathway converges with the WNT pathway. Differential expression of the immunohistochemical markers of these pathways helps in the semiquantitation of various epithelial components, guides adjuvant treatment, and patient prognostication.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251346938"},"PeriodicalIF":0.9,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258107","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
Primary Myoepithelioma of the Bone With HMGA2::WIF1 Fusion. HMGA2::WIF1融合治疗原发性骨肌上皮瘤。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-10 DOI: 10.1177/10668969251344969
Ahmed Shah, Kevin Halling, Doris Wenger, Judith Jebastin Thangaiah
{"title":"Primary Myoepithelioma of the Bone With <i>HMGA2</i>::<i>WIF1</i> Fusion.","authors":"Ahmed Shah, Kevin Halling, Doris Wenger, Judith Jebastin Thangaiah","doi":"10.1177/10668969251344969","DOIUrl":"https://doi.org/10.1177/10668969251344969","url":null,"abstract":"<p><p>Myoepithelial tumors are typically characterized by distinct molecular profiles that have been shown to correlate with their anatomical locations. <i>EWSR1</i> or <i>FUS</i> rearrangements are common in cutaneous, soft tissue and bone tumors, whereas salivary gland myoepithelial tumors are frequently associated with <i>PLAG1</i> and <i>HMGA2</i> alterations. This apparent molecular divergence led some previous studies to doubt a common pathogenetic relationship between myoepithelial tumors of soft tissue and bone with their salivary gland counterparts. Herein, we present primary intraosseous myoepithelioma harboring <i>HMGA2::WIF1</i> fusion. This fusion has been previously identified in a range of salivary gland myoepithelial tumors including myoepitheliomas, myoepithelial carcinomas arising from pleomorphic adenomas, and pleomorphic adenomas themselves. Primary myoepithelial tumors of the bone are exceedingly rare, and to our knowledge, <i>HMGA2</i> rearrangements have not been previously reported in soft tissue or bone myoepithelial neoplasms. Through this report, we aim to enhance the existing literature on myoepithelial neoplasms, while highlighting the importance of recognizing primary bone myoepitheliomas and contributing to a broader understanding of the pathogenetic landscape of myoepithelial tumors across diverse tissue types.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251344969"},"PeriodicalIF":0.9,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258106","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
Indolent NK-Cell Lymphoproliferative Disorder of the Nasal Cavity: A Case Report and Review of the Literature. 鼻腔惰性nk细胞增生性疾病1例报告及文献复习。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-10 DOI: 10.1177/10668969251346924
Bingjing Jiang, Huichao Sheng, Lixia Wang
{"title":"Indolent NK-Cell Lymphoproliferative Disorder of the Nasal Cavity: A Case Report and Review of the Literature.","authors":"Bingjing Jiang, Huichao Sheng, Lixia Wang","doi":"10.1177/10668969251346924","DOIUrl":"https://doi.org/10.1177/10668969251346924","url":null,"abstract":"<p><p><i>Background</i>Indolent NK-cell lymphoproliferative disorder of the gastrointestinal tract (iNKLPD) is a newly recognized entity in the 5th edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours: Lymphoid Neoplasms. Initially described as \"NK-cell enteropathy\" and \"lymphomatoid gastropathy\" over a decade ago, recent molecular and cytogenetic studies have confirmed its neoplastic nature. Although primarily affecting the gastrointestinal tract, iNKLPD has also been reported in rare extra-intestinal sites, including the gallbladder, lymph nodes, nasopharynx, and vagina.<i>Patient Presentation</i>We report the first documented nasal cavity lesion, identifying this anatomic site as a novel manifestation of the disease. A 67-year-old woman patient presented with recurrent postnasal drip symptoms persisting for one year following an upper respiratory tract infection. Imaging studies revealed a nasal mass on head computed tomography (CT), prompting endoscopic resection. Intraoperatively, a mulberry-like neoplasm was identified in the left nasal septum. Histopathological examination using hematoxylin-eosin (HE) staining revealed diffuse infiltration by medium to large round cells. Immunohistochemical profiling demonstrated positive expression of CD56, CD3, BCL2, TIA1, and granzyme B, with a Ki-67 proliferation index of 50%. CD5, CD20, CD21, CD23, CD10, BCL6, CD30, PAX5, and PD-1 were negative. Notably, in situ hybridization for Epstein-Barr virus (EBV)-encoded RNA was negative, and T-cell receptor (TCR) gene rearrangement was not detected by polymerase chain reaction (PCR) analysis, confirming the diagnosis of iNKLPD. After 11 months of follow-up, the patient showed no local recurrence or signs of lymph node enlargement in other anatomical regions. Furthermore, proteomics analysis of the tumor was conducted in conjunction with gene ontology (GO) functional and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses.<i>Conclusion</i>Although iNKLPD is a rare tumor, lesions involving the nasal cavity are exceptionally uncommon and have not been reported in the literature. This unique lesion represents the first documented occurrence of iNKLPD in the nasal cavity, contributing to the comprehensive understanding of its pathological diagnosis and clinical management. Proteomics analysis of the tumor has provided valuable insights into the molecular mechanisms underlying this rare disease.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251346924"},"PeriodicalIF":0.9,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258104","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
Histomorphological and Molecular Features of Colonic Large-Cell Neuroendocrine Carcinoma in a Patient With Familial Adenomatous Polyposis: A Case Report and Review of Literature. 家族性腺瘤性息肉病患者结肠大细胞神经内分泌癌的组织形态学和分子特征:1例报告和文献复习。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-10 DOI: 10.1177/10668969251346939
Mohamed Moustafa, Jing Xu, Hua Wang, Lan Peng, Zhikai Chi
{"title":"Histomorphological and Molecular Features of Colonic Large-Cell Neuroendocrine Carcinoma in a Patient With Familial Adenomatous Polyposis: A Case Report and Review of Literature.","authors":"Mohamed Moustafa, Jing Xu, Hua Wang, Lan Peng, Zhikai Chi","doi":"10.1177/10668969251346939","DOIUrl":"https://doi.org/10.1177/10668969251346939","url":null,"abstract":"<p><p>Colorectal large-cell neuroendocrine carcinoma, a rare and aggressive type of cancer, accounts for <0.6% of all colorectal cancers. Neuroendocrine carcinomas are associated with hereditary conditions such as Lynch syndrome; however, their co-occurrence with familial adenomatous polyposis (FAP) is poorly documented. To date, only 1 patient of colorectal neuroendocrine carcinoma in a patient with FAP has been reported. This report presents a patient with FAP. Large-cell neuroendocrine carcinoma with lymph node metastasis was discovered during right colectomy. Histopathological and immunohistochemical assessments confirmed neuroendocrine differentiation with a high Ki-67 index (>90%). Genetic analysis revealed a pathogenic germline <i>APC</i> mutation and somatic alterations in <i>APC</i>, <i>TP53, RB1, PALB2, MAP3K1, NTRK3,</i> and <i>KRAS</i>. Adjuvant chemotherapy commenced postoperatively. No evidence of recurrence was observed for 18 months postoperatively. This case report highlights the rare presentation of colorectal large-cell neuroendocrine carcinoma in a patient with FAP, thereby contributing to the limited literature on this association. <i>APC</i> mutations have been characterized in adenomatous polyposis and colorectal adenocarcinomas; however, their role in the pathogenesis of neuroendocrine carcinoma remains unclear. Additional mutations of <i>TP53</i>, <i>RB1</i>, <i>PALB2</i>, <i>MAP3K1</i>, <i>NTRK3</i>, and <i>KRAS</i> suggest a unique molecular profile that may contribute to the development of neuroendocrine carcinoma in patients with FAP. This is the second reported patient of colorectal large-cell neuroendocrine carcinoma in a patient with FAP. Further studies must be conducted to elucidate the role of <i>APC</i> mutations in the pathogenesis of neuroendocrine tumorigenesis.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251346939"},"PeriodicalIF":0.9,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258103","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
Late Recurrence of Spindle Cell Sarcoma in Association with TPM3::NTRK1 Fusion. 梭形细胞肉瘤晚期复发与TPM3::NTRK1融合的关系
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2025-06-09 DOI: 10.1177/10668969251343223
Xenia Parisi, Anindita Ghosh, Wei-Lien Wang, Nahir Cortes-Santiago, L Jeffrey Medeiros
{"title":"Late Recurrence of Spindle Cell Sarcoma in Association with <i>TPM3::NTRK1</i> Fusion.","authors":"Xenia Parisi, Anindita Ghosh, Wei-Lien Wang, Nahir Cortes-Santiago, L Jeffrey Medeiros","doi":"10.1177/10668969251343223","DOIUrl":"https://doi.org/10.1177/10668969251343223","url":null,"abstract":"<p><p>We report a 31-year-old woman with a history of low-grade, undifferentiated spindle cell sarcoma of the hand diagnosed at 10 years of age and subsequently amputated. The patient remained under surveillance without recurrence for over 20 years before she presented with multiple new masses in the skin of the head and neck. Biopsies confirmed recurrent sarcoma. Imaging studies revealed metastases within the lungs and peri-pancreatic tissue. Molecular analysis of these lesions showed a <i>TPM3::NTRK1</i> fusion, and the patient started treatment on larotrectinib, on which she now remains, relapse and recurrence-free at 40 months. In presenting this patient, we hope to draw attention to the potentially overlooked provisional category of <i>NTRK</i>-rearranged spindle cell neoplasms that has been added to the fifth edition of the World Health Organization (WHO) classifications of pediatric tumors and soft tissue and bone tumors. While these neoplasms constitute only an estimated 1% of pediatric soft tissue neoplasms, discovering <i>NTRK</i> abnormalities in these lesions opens an important line of targeted therapy options, i.e., NTRK inhibitors. We hope to also show the community the potential for <i>NTRK</i>-rearranged spindle cell neoplasms to present with late local recurrence and metastases.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251343223"},"PeriodicalIF":0.9,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258105","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信