International Journal of Surgical Pathology最新文献

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Clinicopathological Features and Outcomes of SMARCA4-Deficient Carcinomas of the Stomach and Gastroesophageal Junction: A Case Series and Literature Review. 胃和胃食管交界处smarca4缺陷型癌的临床病理特征和预后:一个病例系列和文献综述
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-05-15 DOI: 10.1177/10668969261444670
Shao-Jie Sheng, Ting Lei, Xuan Wang, Yong-Qiang Shi, Qing Li
{"title":"Clinicopathological Features and Outcomes of SMARCA4-Deficient Carcinomas of the Stomach and Gastroesophageal Junction: A Case Series and Literature Review.","authors":"Shao-Jie Sheng, Ting Lei, Xuan Wang, Yong-Qiang Shi, Qing Li","doi":"10.1177/10668969261444670","DOIUrl":"10.1177/10668969261444670","url":null,"abstract":"<p><p>There are relatively few reports on SMARCA4-deficient gastric cancer, which is a highly aggressive tumor. Most patients are already at an advanced stage at the time of diagnosis. In this study, we identify the absence of SMARCA4 staining in the stomach tumors from four adult male patients and one female patient between the ages of 61 and 78 years. Surgical resection was performed in four patients (specimens 1 to 4), who presented with ulcerated and transmural masses with infiltration, which were staged as IIIA in specimens 1 and 4, IIB in specimen 2, and IIIC in specimen 3. Histologically, the tumor cells were arranged in sheets, nests, cords or trabecular patterns in five specimens, while specimen 2 also included the adenocarcinoma component, which consisted of a low-grade gland-forming adenocarcinoma. Immunohistochemical staining revealed deficient SMARCA4 expression in five specimens, but expressed SMARCA4 in the adenocarcinoma component in specimen 2. Patients 1 and 2 received postoperative chemotherapy, with no evidence of disease recurrence to date. Patient 5 presented with liver metastases and was managed with immunotherapy plus chemoradiation (nonsurgical approach), and survived with persistent disease for 10 months. We analyze the clinicopathological features, immunohistochemical characteristics, therapy and prognosis of stomach and gastroesophageal junction SMARCA4-deficient carcinomas and presented a literature review to aid in the diagnosis and differential diagnosis of these tumors.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1767-1774"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147948567","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 Periadrenal Gland Ewing Sarcoma With Extensive Posttreatment Ganglioneuroblastoma-Like Morphology in an Adult Patient. 成人患者肾上腺周围尤文氏肉瘤治疗后具有广泛的神经节神经母细胞瘤样形态。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-05-15 DOI: 10.1177/10668969261443549
Xi Wang, William Laskin, Hao Wu
{"title":"A Periadrenal Gland Ewing Sarcoma With Extensive Posttreatment Ganglioneuroblastoma-Like Morphology in an Adult Patient.","authors":"Xi Wang, William Laskin, Hao Wu","doi":"10.1177/10668969261443549","DOIUrl":"10.1177/10668969261443549","url":null,"abstract":"<p><p>Neuroblastoma and Ewing sarcoma are two round cell malignancies that can exhibit light microscopic overlap and potentially arise in the same anatomic location, leading to diagnostic uncertainty. Neoadjuvant chemotherapy-induced cytodifferentiation/maturation is a common feature in pediatric malignancies, whereas Ewing sarcomas often exhibit variable degrees of necrosis, inflammatory infiltrates, and stromal fibrosis after neoadjuvant treatment. Posttreatment neuroblastoma-like morphologic changes have been rarely reported in pediatric Ewing sarcoma. Herein, we report a 33-year-old man with a retroperitoneal periadrenal mass and normal plasma catecholamine levels. The tumor biopsy demonstrated Homer-Wright rosette-forming small round cells with a high nuclear-to-cytoplasmic ratio and finely granular chromatin. The tumor cells showed strong, diffuse membranous CD99 and nuclear NKX2.2 expression, whereas they were negative for PHOX2B, a neuroblastoma/ganglion cell marker. <i>EWSR1</i> rearrangement detected by FISH confirmed the light microscopic impression of Ewing sarcoma. The postchemotherapy resection showed a biphasic tumor with a predominantly ganlioneuroblastoma-like morphology and a minor component of round cell sarcoma. The round cell sarcoma area retained membranous CD99 but was negative for NKX2.2. The ganglioneuroblastoma-like areas retained NKX2.2 immunoreactivity, remained negative for PHOX2B, and were additionally negative for CD99. <i>EWSR1</i> rearrangement by FISH was observed in the resection specimen. Our report shows a rare example of chemotherapy-induced cytodifferentiation resembling ganglioneuroblastoma in an adult patient with conventional Ewing sarcoma.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1910-1917"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13547690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147948511","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
Giant Pseudoangiomatous Stromal Hyperplasia Presenting as Bilateral Macromastia in an 11-Year-Old Female Patient: Emphasis on Pediatric Presentation and Literature Review. 一例11岁女性患者双侧巨乳症表现为巨大假性血管瘤间质增生:强调儿科表现和文献复习。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-04-15 DOI: 10.1177/10668969261439154
Sydney Rashid, Mai Thy Tran, Shubha Dave
{"title":"Giant Pseudoangiomatous Stromal Hyperplasia Presenting as Bilateral Macromastia in an 11-Year-Old Female Patient: Emphasis on Pediatric Presentation and Literature Review.","authors":"Sydney Rashid, Mai Thy Tran, Shubha Dave","doi":"10.1177/10668969261439154","DOIUrl":"10.1177/10668969261439154","url":null,"abstract":"<p><p>Pseudoangiomatous stromal hyperplasia (PASH) is a benign proliferative lesion of the breast stroma, most often encountered in premenopausal women as a small unilateral nodule. Occurrence in children and adolescents is exceedingly rare, particularly in the setting of diffuse involvement causing bilateral macromastia. Here, we present the largest documented instance of PASH (in size and weight) in an 11-year-old premenarchal female patient with rapidly progressive, symptomatic bilateral, diffuse breast enlargement, ultimately requiring bilateral subtotal mastectomy with free nipple grafting. Bilateral tumors measured 39.1 cm and 29.2 cm, with resection weights of 10.2 kg and 5.2 kg. In addition, we reviewed all published literature on school-aged children with PASH (ages 6-12, <i>n</i> = 12) and compared them with nine large adult series (<i>n</i> ≈ 1072). Pediatric lesions showed significantly higher rates of bilaterality (50% vs <1%), diffuse/macromastic growth (58% vs <1%), larger mean size (18.3 cm vs 4-5 cm), and greater need for mastectomy (42% vs 1.5%). Our observations from clinical presentations in the literature and our from patient demonstrate that pediatric PASH has the potential to present as rapid, massive bilateral breast enlargement, suggesting that pediatric PASH is not merely a smaller form of the adult disease but a distinct clinical entity requiring age-appropriate management.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1825-1834"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690080","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
Clear Cell Renal Cell Carcinoma With Lipocyte-Like Features in a Multifocal Renal Tumor: Possible Morphological Sign of Tumor Regression? 多灶性肾肿瘤伴脂肪细胞样特征的透明细胞肾细胞癌:肿瘤消退的可能形态学征象?
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-04-15 DOI: 10.1177/10668969261439159
Cosimo Custoza, Aurora Lucia Zaccagnino, Aurora Barone, Lucia Mundo, Gabriele Barbanti, Sergio Antonio Tripodi
{"title":"Clear Cell Renal Cell Carcinoma With Lipocyte-Like Features in a Multifocal Renal Tumor: Possible Morphological Sign of Tumor Regression?","authors":"Cosimo Custoza, Aurora Lucia Zaccagnino, Aurora Barone, Lucia Mundo, Gabriele Barbanti, Sergio Antonio Tripodi","doi":"10.1177/10668969261439159","DOIUrl":"10.1177/10668969261439159","url":null,"abstract":"<p><p>We report a rare occurrence of clear cell renal cell carcinoma (RCC) with an unusual morphology resembling white adipose tissue. To the best of our knowledge, clear cell RCC exhibiting lipocyte-like morphology has been documented only once in the literature, in a report from 1996. In this study, we present a comprehensive analysis of the histological and immunohistochemical characteristics, highlighting the differences from conventional clear cell RCC. We focus on its unusual morphology and explore potential biological explanations, hypothesizing that it may represent a histologic pattern associated with tumor regression. Recognizing this morphology is important not only for expanding the spectrum of RCC growth patterns but also for diagnostic purposes, particularly in needle-core biopsy specimens. Furthermore, the characterization of the immunological microenvironment of this tumor could increase our understanding of the biological processes underlying clear cell RCC regression.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1835-1840"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689899","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
Integrated Clinicopathologic and Genetic Characterization of Renal TFE3-Rearranged PEComa with Melanin Pigmentation: A Case Series and Comprehensive Literature Review. 合并黑色素沉着的肾tfe3重排PEComa的临床病理和遗传学特征:一个病例系列和综合文献综述。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-03-26 DOI: 10.1177/10668969261424440
Zidi Zhou, Ting Lei, Yongqiang Shi, Hui Wang, Yan Peng, Qing Li, Tongbing Chen
{"title":"Integrated Clinicopathologic and Genetic Characterization of Renal TFE3-Rearranged PEComa with Melanin Pigmentation: A Case Series and Comprehensive Literature Review.","authors":"Zidi Zhou, Ting Lei, Yongqiang Shi, Hui Wang, Yan Peng, Qing Li, Tongbing Chen","doi":"10.1177/10668969261424440","DOIUrl":"10.1177/10668969261424440","url":null,"abstract":"<p><p>AimsTo investigate the clinical, histologic, and immunophenotypic features; genetic alterations; and prognosis of patients with renal TFE3-rearranged PEComa.MethodsThree patients were selected from the Department of Pathology, The Third Affiliated Hospital of Soochow University, between February 2017 and June 2023. Clinical, histopathologic, immunohistochemical, next-generation sequencing (NGS), and follow-up data were collected, and related studies were reviewed.ResultsAll tumors were detected by imaging studies. Ultrasound revealed well-circumscribed echogenic renal masses. Tumor tissue was separated by a fibrovascular network into nests, sheets, or acini, with varying amounts of melanin pigmentation. The tumor cells were epithelioid in shape, with clear or eosinophilic cytoplasm and prominent nucleoli. They were positive for TFE3 and HMB45 but negative for Melan-A, PAX8, CA9, CD10, keratin, vimentin, S100, SMA, and desmin. Notably, the tumor from the 28-year-old female patient demonstrated marked atypia, tumor necrosis, dystrophic calcification, and atypical mitotic figures. The <i>SFPQ::TFE3</i> fusion gene was detected in all 3 patients by NGS. Missense mutations in the <i>TP53</i>, <i>KRAS</i>, <i>MET</i>, and (tuberous sclerosis complex, TSC) <i>TSC2</i> gene were also detected. All patients survived without recurrence or metastasis.ConclusionsRenal TFE3-rearranged PEComa display unique clinicopathologic features, usually with insidious onset and potential for recurrence, metastasis, or death, and may represent an independent tumor subtype. Differential diagnoses include conventional perivascular epithelioid cell tumors and Xp11 translocation renal cell carcinoma. Patients with tumors confined to the kidney usually have a good prognosis after complete surgical resection.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1713-1720"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147512113","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
Pseudo-Obstruction of the Colon Associated With Segmental Additional Muscle and Fibrous Coat: A Rare Specimen With Novel Quantitative Immunohistochemical Analysis. 假性结肠梗阻与节段性额外肌肉和纤维被:一种罕见的新型定量免疫组织化学分析标本。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-05-19 DOI: 10.1177/10668969261439155
Lezia D'Souza, Awais Ahmad, Aryan Sharma, Amandeep Dhugga, Philip Kaye, Sayed Ali Almahari, Catherine Boereboom, Abed M Zaitoun
{"title":"Pseudo-Obstruction of the Colon Associated With Segmental Additional Muscle and Fibrous Coat: A Rare Specimen With Novel Quantitative Immunohistochemical Analysis.","authors":"Lezia D'Souza, Awais Ahmad, Aryan Sharma, Amandeep Dhugga, Philip Kaye, Sayed Ali Almahari, Catherine Boereboom, Abed M Zaitoun","doi":"10.1177/10668969261439155","DOIUrl":"10.1177/10668969261439155","url":null,"abstract":"<p><p>BackgroundChronic intestinal pseudo-obstruction refers to neuromuscular disorders causing ineffective motility without blockage. One rare cause is segmental additional muscle coat, a sharply defined smooth muscle band between the muscularis mucosae and muscularis propria. Segmental additional muscle coat is seldom reported and has been linked to developmental disorders like Hirschsprung's disease. We report a rare specimen of colonic segmental additional muscle coat with emphasis on quantitative assessment.SpecimenIn our specimen, the patient had lifelong severe constipation and multiple surgeries, including subtotal colectomy due to imminent perforation. Macroscopically, the colon showed marked dilation with mucosal thinning and a distal stenotic segment with wall thickening.MethodsWe performed histological, immunohistochemical, and novel quantitative analysis to characterize the additional muscle layer's structure and cellular composition-an approach not previously described.ResultsHistology revealed a sharply defined smooth muscle layer within the submucosa, distinct from the muscularis propria, and containing fibrosis. The additional layer was identified exclusively in the distal colon, corresponding to the region of pseudo-obstruction. Quantitative desmin immunostaining showed significantly lower smooth muscle content in the segmental additional muscle coat (43.3%) compared to the muscularis propria (95.5%), with the remainder being fibrous tissue. Calretinin highlighted nerve elements, while DOG1 demonstrated interstitial cells of Cajal in the muscularis propria (2.99%) but only minimally in the segmental additional muscle coat (0.75%).ConclusionThis specimen highlights segmental additional muscle coat as a rare structural abnormality causing colonic pseudo-obstruction. The novel use of quantitative immunohistochemistry provides new insight into its cellular and stromal composition, supporting a developmental origin and expanding the pathological understanding of chronic intestinal pseudo-obstruction.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1866-1873"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147972546","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
Retroperitoneal Schwannoma with a Novel PRCC::TFE3 Fusion: Expanding the Spectrum of Schwannomas with a TFE3 Gene Rearrangement. 腹膜后神经鞘瘤与新型PRCC::TFE3融合:扩大神经鞘瘤与TFE3基因重排的频谱。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-05-06 DOI: 10.1177/10668969261442124
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
{"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":"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":"1894-1901"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","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}
引用次数: 0
Micropapillary Serous Borderline Tumor With Microinvasive Low-Grade Serous Carcinoma of the Tunica Vaginalis Harboring NRAS p.Q61R Mutation: Expanding the Molecular Spectrum of Paratesticular Müllerian-Type Tumors. 含有NRAS p.Q61R突变的阴道膜微乳头状浆液性交界性肿瘤伴微浸润性低级别浆液性癌:扩大了睾丸旁胆管型肿瘤的分子谱。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-04-23 DOI: 10.1177/10668969261439280
Baoling Xing, Xiaoying Zhang, Hui Zhu, Xia Gu
{"title":"Micropapillary Serous Borderline Tumor With Microinvasive Low-Grade Serous Carcinoma of the Tunica Vaginalis Harboring <i>NRAS p.Q61R</i> Mutation: Expanding the Molecular Spectrum of Paratesticular Müllerian-Type Tumors.","authors":"Baoling Xing, Xiaoying Zhang, Hui Zhu, Xia Gu","doi":"10.1177/10668969261439280","DOIUrl":"10.1177/10668969261439280","url":null,"abstract":"<p><p>Serous tumors of the testis and paratestis are rare neoplasms originating from Müllerian duct epithelium, exhibiting histological features analogous to their ovarian counterparts, predominantly manifesting as serous borderline tumors and low-grade serous carcinomas. Definitive diagnosis of these tumors requires histopathological examination and immunohistochemical profiles to confirm Müllerian differentiation. This study reports the first documented <i>NRAS p.Q61R</i> mutation as a likely pathogenic variant (Class II) and a <i>BRCA2</i> variant of uncertain significance (Class III) in a tunica vaginalis micropapillary serous borderline tumor with microinvasive low-grade serous carcinoma. While <i>NRAS</i> mutations are infrequently observed in ovarian serous tumors, their presence in this context suggested potential shared oncogenic pathways between male and female Müllerian-type neoplasms. Notably, the <i>NRAS p.Q61R</i> variant was classified as Class II and may be associated with malignant progression from borderline tumors to invasive carcinoma. These findings underscore the need for long-term surveillance and molecular investigations to clarify tumor behavior, recurrence risks, and therapeutic targets in such rare entities.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1874-1880"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770658","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
KRAS/NRAS/BRAF Mutations and Mismatch Repair Deficiency in Patients with Early-Onset Colorectal Cancer: A Clinicopathological Analysis. 早发性结直肠癌患者的KRAS/NRAS/BRAF突变和错配修复缺陷:临床病理分析
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-06-12 DOI: 10.1177/10668969261457880
Chao Liu, Yong Wang
{"title":"KRAS/NRAS/BRAF Mutations and Mismatch Repair Deficiency in Patients with Early-Onset Colorectal Cancer: A Clinicopathological Analysis.","authors":"Chao Liu, Yong Wang","doi":"10.1177/10668969261457880","DOIUrl":"10.1177/10668969261457880","url":null,"abstract":"<p><p>BackgroundEarly-onset colorectal cancer (CRC) is characterized by distinct molecular and clinical features, a more advanced stage at diagnosis, and unique challenges in clinical management.AimThis study aimed to characterize the clinicopathologic features of early-onset CRC and investigate the associations between clinicopathologic characteristics and genetic mutations in young Chinese patients.MethodsIn total, 239 young Chinese patients (age range: 22-45 years) diagnosed with CRC who underwent surgery from January 2016 to June 2022 were retrospectively enrolled. <i>KRAS</i>, <i>NRAS</i>, and <i>BRAF</i> mutations were detected using a mutation analysis panel kit. Mismatch repair (MMR) protein (MLH, PMS2, MSH2, MSH6) expression was evaluated by immunohistochemistry. Pearson's chi-squared test was used to assess the relationships of genetic mutations and MMR with patients' clinicopathologic characteristics.ResultsThe overall <i>KRAS</i>/<i>NRAS</i>/<i>BRAF</i> mutation rate was 50.6% (121/239), including individual rates of 44.4% (<i>KRAS</i>), 2.1% (<i>NRAS</i>), and 4.2% (<i>BRAF</i>). In addition, 15.1% of the patients (36/239) were MMR-deficient (dMMR). The <i>BRAF</i> V600E mutation was significantly associated with high grade (<i>P</i> = .012). Similarly, dMMR status showed significant associations with larger tumor size (<i>P</i> = .028), tumor location (<i>P</i> < .001), the absence of lymph node metastasis (<i>P</i> = .001), and the absence of distant metastasis (<i>P</i> = .038). <i>KRAS</i> mutations were more frequent in dMMR tumors than in MMR-proficient tumors (63.8% vs 40.8%).ConclusionGenetic mutations in the RAS/RAF pathway and dMMR status are associated with distinct clinicopathological features in patients with early-onset CRC. dMMR is a potentially favorable prognostic marker.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1791-1799"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148225320","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
Collision Tumor of Metastatic Lung Adenocarcinoma to Lower Limb Leiomyosarcoma: Case Report and Literature Review. 转移性肺腺癌与下肢平滑肌肉瘤碰撞瘤1例报告并文献复习。
IF 0.9 4区 医学
International Journal of Surgical Pathology Pub Date : 2026-10-01 Epub Date: 2026-03-24 DOI: 10.1177/10668969261422689
Mark Strong, Nicholas Frazzette, Fang Zhou, Nicola Fabbri, Syed T Hoda
{"title":"Collision Tumor of Metastatic Lung Adenocarcinoma to Lower Limb Leiomyosarcoma: Case Report and Literature Review.","authors":"Mark Strong, Nicholas Frazzette, Fang Zhou, Nicola Fabbri, Syed T Hoda","doi":"10.1177/10668969261422689","DOIUrl":"10.1177/10668969261422689","url":null,"abstract":"<p><p>BackgroundCollision tumors, composed of 2 histologically distinct neoplasms at the same site, are rare. They encompass a variety of subtypes, where either lesion may be benign or malignant and where they may \"collide\" by direct invasion or metastasis. Carcinoma-sarcoma collisions are especially uncommon, and so-called tumor-to-tumor metastasis is even rarer. Tumor-to-tumor metastasis involving lung adenocarcinoma has only been reported within benign mesenchymal tumors; no such report to date has described metastasis into a malignant soft tissue sarcoma.Patient PresentationA 90-year-old man presented with a rapidly growing soft tissue mass on the anterolateral aspect of the right knee. Biopsy revealed high-grade leiomyosarcoma. Imaging also identified a dominant pulmonary nodule. The soft tissue mass was resected, revealing not only leiomyosarcoma but also a distinct glandular proliferation. Subsequent lung biopsy confirmed adenocarcinoma. Immunohistochemistry demonstrated that the glandular component within the sarcoma shared an identical profile with the lung tumor, consistent with metastatic lung adenocarcinoma into the primary sarcoma.DiscussionThis is the first reported example of lung adenocarcinoma metastasizing into a malignant soft-tissue tumor, representing a rare tumor-to-tumor metastasis resulting in a carcinoma-sarcoma collision tumor. A review of the literature identified 12 comparable reports, none involving both a malignant donor and a malignant mesenchymal recipient. This report underscores the importance of distinguishing such lesions from carcinosarcoma using histology and immunophenotyping.ConclusionThis unique example of carcinoma-to-sarcoma metastasis expands the differential diagnosis of biphasic soft-tissue tumors. Accurate classification is critical for guiding treatment, which may require tailored oncologic strategies addressing both tumor types.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1813-1818"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147503862","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}
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