Diagnostic Pathology最新文献

{"title":"Immunohistochemical profile of non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) versus other thyroid follicular lesions.","authors":"Rehab Monir Samaka, Aiat Shaban Hemida, Hagar Alfouly, Mona A Kora","doi":"10.1186/s13000-025-01660-z","DOIUrl":"10.1186/s13000-025-01660-z","url":null,"abstract":"<p><strong>Background: </strong>A follicular thyroid tumour called Non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) poses crossing-over morphologic characteristics with more thyroid follicular lesions whether benign or cancerous nodules. This study focuses on analysing the expression of CD56, HBME-1, RRM2 and APLP2 IHC markers in NIFTP versus other thyroid follicular lesions and their diagnostic validity was also evaluated.</p><p><strong>Methods: </strong>one hundred and nine thyroidectomy specimens including 31 NIFTP, 34 non-neoplastic, 34 papillary thyroid carcinoma (PTC) and 10 invasive encapsulated follicular variant papillary thyroid carcinoma (IEFVPTC) cases, were acquired between 2019 and 2022 from the Menoufia University's Faculty of Medicine's Pathology Department. Tissue microarray construction (TMA) blocks were prepared and CD56, HBME-1, RRM2 and APLP2 immunostaining were performed.</p><p><strong>Results: </strong>For CD56, 64.5% of NIFTP, 97.1% of the non-neoplastic group and 0% of both PTC and IEFVPTC were positive. For HBME-1, 61.3% of NIFTP, 0% of non-neoplastic, 100% of PTC and 100% of IEFVPTC were positive. For RRM2, all cases of NIFTP and the non-neoplastic group were negative, 88.2% of PTC and 100.0% of IEFVPTC were positive. For APLP2, 90.3% of NIFTP, 100% of the non-neoplastic group, 100% of PTC and 100% of IEFVPTC were positive. In differentiating NIFTP from non-neoplastic cases, the most sensitive marker was CD56 at H-score < 225 (sensitivity 95%) and the most specific was HBME-1 (specificity 100%). In various combinations, the panel of combined HBME-1 with either CD56 or APLP-2 improves their specificity (96.67% and 100% respectively) and the diagnostic accuracy (86.79 and 83.87, respectively) and therefore, combined HBME-1 and CD56 seems to be the most significant than using a single marker. In differentiation between NIFTP and PTC/IEFVPTC, the most sensitive marker was RRM2 (100% sensitivity for both groups) with the highest diagnostic accuracy (93.85% and 100%, respectively) and the most specific was CD56 (specificity 100% for both groups).</p><p><strong>Conclusions: </strong>Immunohistochemical markers such as CD56, HBME-1, RRM2, and APLP2 may aid in the diagnosis of NIFTP and its distinction from other follicular lesions.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"64"},"PeriodicalIF":2.4,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel KRAS exon 2 drop-off digital PCR assay for mutation detection in cell-free DNA of cancer patients.","authors":"Bianca Addamo-De Nard, Meret Geissmann, Dilara Akhoundova, Clelia Pistoni, Tomas Brezina, Martin Zoche, Achim Weber, Saskia Hussung, Ralph Fritsch","doi":"10.1186/s13000-025-01637-y","DOIUrl":"10.1186/s13000-025-01637-y","url":null,"abstract":"<p><strong>Background: </strong>KRAS exon 2 mutations are highly prevalent in human malignancies, making them attractive targets for detection and monitoring in cell-free DNA (cfDNA) of cancer patients. Drop-off assays designed for digital polymerase chain reaction (ddPCR drop-off) span entire mutational hotspots and detect any mutated allele within the covered region, overcoming a major limitation of mutation-specific ddPCR assays. We therefore set out to develop a novel KRAS codon 12/13 ddPCR drop-off assay for the robust, highly sensitive and specific detection of KRAS exon 2 hotspot mutations in cfDNA.</p><p><strong>Methods: </strong>We designed, optimized and extensively validated a KRAS codon 12/13 ddPCR drop-off assay. We compared assay performance to a commercially available KRAS multiplex assay. For clinical validation, we analyzed plasma samples collected from patients with KRAS-mutated gastrointestinal malignancies.</p><p><strong>Results: </strong>Limit of detection of the newly established ddPCR drop-off assay was 0.57 copies/µL, limit of blank was 0.13 copies/µ. The inter-assay precision (r²) was 0.9096. Our newly developed KRAS ddPCR drop-off assay accurately identified single nucleotide variants in 35/36 (97.2%) of circulating tumor DNA-positive samples from the patient validation cohort. Assay cross-validation showed that the newly established KRAS codon 12/13 ddPCR drop-off assay outperformed a commercially available KRAS multiplex ddPCR assay in terms of specificity. Moreover, the newly developed assay proved to be suitable for multiplexing with mutation-specific probes.</p><p><strong>Conclusion: </strong>We developed and clinically validated a highly accurate ddPCR drop-off assay for KRAS exon 2 hot-spot detection in cfDNA with broad applicability for clinic and research.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"62"},"PeriodicalIF":2.4,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Colon\"ised by the unexpected: a case of extrauterine epithelioid trophoblastic tumour.","authors":"Shalini Radhakrishnan, Nischitha N Suvarna, Saraswathy Sreeram, Srirama Bhat","doi":"10.1186/s13000-025-01617-2","DOIUrl":"10.1186/s13000-025-01617-2","url":null,"abstract":"<p><strong>Introduction: </strong>Extrauterine epithelioid trophoblastic tumour is an exceedingly rare and aggressive form of gestational trophoblastic disease that arises outside the uterus and is characterised by the proliferation of intermediate trophoblastic cells. Unlike more common forms of gestational trophoblastic diseases, such as hydatidiform moles and choriocarcinoma, this entity presents unique diagnostic and therapeutic challenges due to its atypical location and clinical features. Thus far, no documented cases of this entity have been reported in the colon.</p><p><strong>Case presentation: </strong>We report the case of a 42-year-old woman who presented with complaints of lower abdominal pain and a palpable mass in the left iliac fossa, initially suspected to be an ectopic pregnancy. On radiological evaluation, a provisional diagnosis of gastrointestinal stromal tumour was made, following which the patient underwent a left colectomy with resection and anastomosis, and the excised specimen on comprehensive histopathological and immunohistochemical analysis was diagnosed as a case of extrauterine epithelioid trophoblastic tumour. However, the patient's condition deteriorated, and she succumbed to the disease one month after the diagnosis.</p><p><strong>Conclusion: </strong>The rarity of extrauterine trophoblastic tumours contributes to limited clinical experience and treatment protocols, resulting in poor prognoses. This case report highlights the importance of histopathological examination for a confirmatory diagnosis, ensuring timely identification and improving patient outcomes.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"61"},"PeriodicalIF":2.4,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12102896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case report: iridociliary melanocytoma associated with secondary glaucoma.","authors":"Yi Sun, Yuanyuan Chen, Jing Zhu, Juan Guo, Zhanfeng Wang","doi":"10.1186/s13000-025-01646-x","DOIUrl":"10.1186/s13000-025-01646-x","url":null,"abstract":"<p><strong>Background: </strong>Distinguishing between benign iridociliary melanocytoma and malignant melanoma presents a diagnostic challenge, particularly given the potential overlap in tumor growth patterns and clinical manifestations, especially when patients present with secondary glaucoma. Misdiagnosis may induce severe clinical consequences, including enucleation. Therefore, the judicious selection of biopsy or surgical techniques is crucial in both diagnosing and managing the condition.</p><p><strong>Case presentation: </strong>A 44-year-old female presented with uncontrolled elevated intraocular pressure (IOP) and a heavily pigmented iris lesion extending into the anterior chamber angle and adjacent ciliary body. Unexpectedly, standardized initial fine-needle aspiration biopsy (FNAB) yielded inconclusive results. Subsequent excisional surgery (partial iridocyclectomy and concurrent phacoemulsification) was performed to remove the tumor mass and treat cataract. Histopathological analysis confirmed the diagnosis as melanocytoma. Lens implantation followed upon normalization of IOP within 8 months. At the 2-year follow-up, the patient exhibited a satisfactory clinical outcome, with no tumor recurrence, achieving a best-corrected visual acuity of 20/40 and an intraocular pressure of 18.5 mmHg.</p><p><strong>Conclusions: </strong>This case underscores the importance of obtaining adequate tumor specimens for accurate diagnosis via FNAB in iris and ciliary body tumors. Additionally, for patients with secondary glaucoma, partial iridocyclectomy emerges as a promising intervention, addressing anterior chamber angle obstruction to alleviate IOP while facilitating histopathological diagnosis for subsequent management.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"60"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12082992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-chain fatty acyl CoA synthetase 4 expression in pancreatic cancer: a marker for malignant lesions and prognostic indicator for recurrence.","authors":"Daiki Uchihara, Shohei Shimajiri, Yoshikazu Harada, Keiichiro Kumamoto, Shinji Oe, Koichiro Miyagawa, Koichi Nakamura, Eisuke Katafuchi, Fariza Nuratdinova, Yuichi Honma, Michihiko Shibata, Masaru Harada, Toshiyuki Nakayama","doi":"10.1186/s13000-025-01659-6","DOIUrl":"https://doi.org/10.1186/s13000-025-01659-6","url":null,"abstract":"<p><strong>Background: </strong>Long-chain fatty acyl CoA synthetase 4 (ACSL4) is crucial for lipid metabolism, primarily catalyzing the formation of 12-20 carbon chain fatty acids. ACSL4 is upregulated in various cancers and linked to aggressive behavior and poor survival. A bioinformatics study showing ACSL4 upregulation in pancreatic cancer. However, utility for actual pathological diagnosis and clinical significance in pancreatic ductal adenocarcinoma (PDAC) and intraductal papillary mucinous neoplasm (IPMN) are unexplored. This study aimed to investigate ACSL4 expression in PDAC and IPMN, and evaluate its clinical implications.</p><p><strong>Methods: </strong>We examined ACSL4 expression using immunohistochemistry in 165 patients with PDAC and IPMN. Differences in ACSL4 expression between malignant and benign lesions were evaluated using the Pearson χ2 test. The association between ACSL4 expression, pathological parameters, and survival was assessed through Kaplan-Meier and Cox regression analyses in 96 patients with invasive cancer.</p><p><strong>Results: </strong>Compared to normal pancreatic ducts, low-grade pancreatic intraepithelial neoplasm, and intraductal papillary mucinous adenoma (IPMA) (3.3%, 3.4%, and 2.7%, respectively), ACSL4 expression was significantly higher in invasive PDAC, noninvasive intraductal papillary mucinous carcinoma (IPMC), and invasive IPMC (77%, 86.7%, and 93.9%, respectively). In invasive cancers, low ACSL4 expression was associated with a higher frequency of lymphovascular invasion and recurrence and shorter disease-free survival (P = 0.006). Additionally, low ACSL4 expression was an independent prognostic factor for shorter disease-free survival in multivariable Cox regression analysis (HR = 2.409, 95% CI: 1.121-5.180, P = 0.024).</p><p><strong>Conclusion: </strong>ACSL4 expression helps differentiate cancerous from precancerous lesions in pancreatic cancer, but low expression is linked to a higher frequency of lymphovascular invasion and shorter disease-free survival in invasive cases. Due to the limited sample size and broad confidence intervals, the findings of this study should be interpreted with caution and require validation in larger, independent cohorts.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"59"},"PeriodicalIF":2.4,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retroperitoneal mucinous cystadenoma with neuroendocrine differentiation: a rare case and comprehensive approach to diagnosis and management.","authors":"Yen Ho, Wei-Yu Chen, Chung-Howe Lai, Syuan-Hao Syu","doi":"10.1186/s13000-025-01658-7","DOIUrl":"https://doi.org/10.1186/s13000-025-01658-7","url":null,"abstract":"<p><strong>Background: </strong>Retroperitoneal mucinous cystadenomas are exceptionally rare neoplasms, with limited cases reported in the literature. The occurrence of neuroendocrine differentiation in such tumors is even more uncommon, posing unique diagnostic and management challenges.</p><p><strong>Case presentation: </strong>We report a case of a 32-year-old woman who was incidentally diagnosed with a right retroperitoneal cyst during routine prenatal ultrasonography. The patient remained asymptomatic until postpartum, prompting further evaluation of the cyst. Imaging studies identified a large cystic mass, ultimately leading to diagnostic laparoscopy and surgical excision. Histopathological analysis confirmed the diagnosis of a mucinous cystadenoma with neuroendocrine cell proliferation.</p><p><strong>Discussion: </strong>This case highlights the complexity of diagnosing and managing retroperitoneal mucinous cystadenomas, particularly those with neuroendocrine features. Given the rarity of these tumors, thorough histopathological examination is crucial to differentiate them from other cystic lesions. Surgical excision remains the definitive treatment, with long-term follow-up essential to ensure complete resolution and monitor for recurrence or malignant transformation.</p><p><strong>Conclusion: </strong>Retroperitoneal mucinous cystadenomas with neuroendocrine differentiation represent a rare clinical entity requiring careful evaluation. This report underscores the importance of considering neuroendocrine differentiation in retroperitoneal cystic lesions and emphasizes the role of complete surgical excision followed by close monitoring to ensure favorable outcomes.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"58"},"PeriodicalIF":2.4,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic insights into solid pseudopapillary neoplasms of the pancreas: a decade of experience with pediatric representation.","authors":"Noura A A Ebrahim, Moamen O Othman, Rasha A Salama, Dalia Abdelfatah, Neveen S Tahoun","doi":"10.1186/s13000-025-01648-9","DOIUrl":"https://doi.org/10.1186/s13000-025-01648-9","url":null,"abstract":"<p><strong>Background: </strong>Solid pseudopapillary neoplasms (SPNs) of the pancreas are rare, low-grade malignancies that predominantly affect young females. Their diagnosis is often facilitated by a characteristic histomorphological pattern and immunohistochemical profile. However, diagnostic challenges persist, especially in pediatric and atypical presentations. Recent attention has focused on the diagnostic value of CD99 and LEF1 in distinguishing SPNs from other pancreatic neoplasms.</p><p><strong>Objective: </strong>To evaluate the diagnostic accuracy and utility of CD99 and LEF1 as immunohistochemical markers for SPNs.</p><p><strong>Methods: </strong>A retrospective analysis of 60 SPN cases diagnosed between 2015 and 2024 was performed. Histopathological features were systematically reviewed, and immunohistochemical staining for CD99, LEF1, β-catenin, Cyclin D1, PR, Ki-67 was evaluated. Immunohistochemical marker interpretation was standardized using internally validated thresholds informed by existing literature: CD99 was considered positive with ≥ 10% cytoplasmic staining exhibiting paranuclear accentuation; β-catenin positivity was defined by ≥ 5% nuclear localization; Cyclin D1 by ≥ 10% moderate-to-strong nuclear staining; and progesterone receptor (PR) expression by ≥ 1% nuclear positivity, consistent with hormone receptor evaluation guidelines. Marker expression was statistically analyzed for their associations.</p><p><strong>Results: </strong>SPNs exhibited a strong female predilection (F:M ratio ≈ 7:1), with a mean age of 32.5 years. Pediatric cases (n = 4) displayed higher mean expression of CD99 (73.8%) and LEF1 (86.5%) compared to adults. CD99 showed cytoplasmic positivity with paranuclear accentuation in 96.7% of cases, while LEF1 demonstrated nuclear staining in 91.7%. β-catenin nuclear localization was observed in 95% of tumors, reflecting Wnt/β-catenin pathway activation. Cyclin D1 and PR were expressed in 90% and 88.3% of cases, respectively. Co-expression of β-catenin, CD99, LEF1, Cyclin D1, and PR was observed in 73.3% of tumors. CD99 and LEF1 inversely correlated with tumor size and proliferative activity (Ki-67), whereas Cyclin D1 and Ki-67 positively correlated with tumor size and lymphovascular invasion (LVI). Pediatric tumors generally exhibited favorable profiles, with limited evidence of LVI.</p><p><strong>Conclusion: </strong>SPNs present with distinctive immunohistochemical signatures that are critical for accurate diagnosis, particularly in morphologically ambiguous or pediatric cases. CD99 and LEF1 are highly sensitive markers that, in combination with β-catenin and Cyclin D1, enhance diagnostic precision. These findings emphasize the central role of Wnt/β-catenin signaling in SPN pathogenesis and underscore the importance of integrating clinicopathological and molecular data for comprehensive tumor assessment.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"57"},"PeriodicalIF":2.4,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042314/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CD200 in acute myeloid leukemia: marked upregulation in CEBPA biallelic mutated cases.","authors":"Laura González-Guerrero, Helena Castellet, Clara Martínez, Nuria González, Francesca Guijarro, Natalia Lloveras, Marta Pratcorona, Ignasi Gich, Pau Berenguer-Molins, Júlia Perera-Bel, Lurdes Zamora, Martí Mascaró, Antonia Sampol, Antoni Garcia-Guiñón, Susana Vives, Mar Tormo, Montserrat Arnan, Neus Villamor, Josep F Nomdedéu","doi":"10.1186/s13000-025-01655-w","DOIUrl":"https://doi.org/10.1186/s13000-025-01655-w","url":null,"abstract":"<p><p>CD200 is a glycoprotein that binds with its receptor CD200R, providing immunosuppressive signals to T and NK cells. CD200 is expressed by normal stem cells and progenitors committed to B-lymphopoiesis and myeloid development. CD200 biological relevance in acute leukemias is only partially understood.The study included a consecutive series of four hundred thirty-one patients with acute myeloid leukemia (AML). Immunophenotype was established by multiparametric flow cytometry, and the genetic diagnosis was performed by PCR-based methods and a targeted resequencing method covering 42 genes.66% of AML patients expressed CD200 being significantly associated with CD34 reactivity. The frequency of CD200 positivity was higher in cases with core-binding factor genetic lesions such as RUNX1-RUNX1T1 (81.3%) fusions and CBFB-MHY11 (63.2%) rearrangements and also with biallelic CEBPA mutations (100%). The molecular AML group with the lowest CD200 reactivity (19.1%) corresponded to AML with NPM1 mutations. RNA seq showed no uniform pattern of infiltrating cells in CEBPA mutated AML. Deconvolution analysis may be used to assess the immunoregulatory mechanisms of AML.CD200 expression could help identify the more immature compartment and, combined with other markers, single out CEPA-mutated AML.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"56"},"PeriodicalIF":2.4,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathological and clinical insights into DICER1 hotspot mutated Sertoli-Leydig cell tumors: a comparative analysis.","authors":"Zhuoyao Lyu, Yilin Liu, Jingci Chen, Pengyan Wang, Zhaohui Lu, Xiaoyan Chang, Xianlong Chen, Heng Ma, Shengwei Mo, Shuangni Yu, Jie Chen","doi":"10.1186/s13000-025-01657-8","DOIUrl":"https://doi.org/10.1186/s13000-025-01657-8","url":null,"abstract":"<p><strong>Background: </strong>Sertoli-Leydig cell tumors (SLCTs) are a rare group of sex cord-stromal tumors that account for less than 0.5% of all ovarian tumors. This study aims to compare the pathological and clinical characteristics of SLCTs with and without DICER1 hotspot mutations, highlighting the impact of these genetic variations on clinical manifestation, prognosis, and pathological morphology.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 50 SLCTs. DICER1 RNase IIIb hotspot mutations were detected by the Sanger sequence. Clinical information, such as patients' symptoms, tumor staging, prognosis, and pathological features, such as tumor differentiation and growth patterns, were collected.</p><p><strong>Results: </strong>DICER1 mutation only appears in the intermediate/poorly differentiated SLCTs (35.7%), while none in the well-differentiated SLCTs. The patients with DICER1 mutation had a younger age of onset (17, 15-25) compared to the wild-type group (42, 27-58). Regarding pathological morphology, the mutant group showed a higher probability of having retiform components (40.0%) and cords or ribbon-like arrangement (33.3%). Besides, they exhibited mucinous edematous stroma (80.0%) and hemorrhage (80.0%) more frequently than the wild-type group. The mutant tumor had more mitotic figures. (11/10HPF), higher Ki-67 index (16.1%), and more CD20-positive cell infiltration. Patients of the mutant group were more likely to experience recurrence, and their tumors were more prone to rupture.</p><p><strong>Conclusions: </strong>This study demonstrates that DICER1-mutant and wildtype SLCTs have marked differences in pathological morphology and clinical manifestation. DICER1-mutatant SLCTs display worse prognosis, higher proliferative activity, and potentially more active immune microenvironments, which underscores the importance of genetic testing in diagnosing and assessing the prognosis of SLCTs.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"55"},"PeriodicalIF":2.4,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute fibrinous and organising pneumonia presenting with mass-like imaging: a case report.","authors":"Wei Zhou, Longyun Zhang, Bin Xu, Chuanhai Wang","doi":"10.1186/s13000-025-01654-x","DOIUrl":"https://doi.org/10.1186/s13000-025-01654-x","url":null,"abstract":"<p><strong>Objective: </strong>This case report describes a patient with acute fibrinous and organising pneumonia (AFOP) presenting with mass-like imaging on chest computed tomography (CT), aiming to enhance clinical awareness of this rare disease.</p><p><strong>Case presentation: </strong>A 66-year-old man presented with cough, sputum, chest tightness and weight loss persisting for 1 month. Chest X-ray revealed a space-occupying lesion in the left lung. Further CT imaging demonstrated irregular soft tissue masses in both the upper and lower lobes of the left lung. Although the imaging findings suggested lung cancer, the final pathological diagnosis confirmed AFOP. The patient was treated with methylprednisolone, resulting in substantial improvement of the upper lobe lesion, whereas the lower lobe lesion showed minimal response. Following the addition of mycophenolate mofetil, the lower lobe lesion decreased substantially. Multiple lung biopsies confirmed the diagnosis of AFOP, with no evidence of a malignant tumour.</p><p><strong>Conclusions: </strong>Acute fibrinous and organising pneumonia presents with non-specific imaging findings, and when manifesting as a mass-like lesion, it may be misdiagnosed as lung cancer. Pathological examination remains essential for diagnosis. Close monitoring of the clinical response is crucial during treatment, and the treatment plan should be tailored to individual patient needs.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"53"},"PeriodicalIF":2.4,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12034166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}