Human pathology最新文献

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Smooth muscle actin-negative juxtaglomerular cell tumor: A potential diagnostic pitfall 平滑肌肌动蛋白阴性肾小球旁细胞瘤:一个潜在的诊断缺陷。
IF 2.6 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105858
Burak Tekin , Thomas M. Soike , John C. Cheville , Sounak Gupta
{"title":"Smooth muscle actin-negative juxtaglomerular cell tumor: A potential diagnostic pitfall","authors":"Burak Tekin , Thomas M. Soike , John C. Cheville , Sounak Gupta","doi":"10.1016/j.humpath.2025.105858","DOIUrl":"10.1016/j.humpath.2025.105858","url":null,"abstract":"","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105858"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144527698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Atypical intraductal proliferation (AIP) of the prostate: Findings in repeat biopsy or radical prostatectomy in patients who met pathologic criteria for active surveillance 非典型前列腺导管内增生(AIP):在符合主动监测病理标准的患者中重复活检或根治性前列腺切除术的发现。
IF 2.6 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105841
Ruihe Lin , Huili Li , Ezra Baraban , Tamara Lotan , Angelo DeMarzo , Pedram Argani , Alexander Baras , Andres Matoso
{"title":"Atypical intraductal proliferation (AIP) of the prostate: Findings in repeat biopsy or radical prostatectomy in patients who met pathologic criteria for active surveillance","authors":"Ruihe Lin ,&nbsp;Huili Li ,&nbsp;Ezra Baraban ,&nbsp;Tamara Lotan ,&nbsp;Angelo DeMarzo ,&nbsp;Pedram Argani ,&nbsp;Alexander Baras ,&nbsp;Andres Matoso","doi":"10.1016/j.humpath.2025.105841","DOIUrl":"10.1016/j.humpath.2025.105841","url":null,"abstract":"<div><div><span><span><span><span>The clinical significance of ‘atypical intraductal proliferation’ (AIP) is uncertain when found in prostate </span>needle biopsy without </span>intraductal carcinoma (IDC-P) or intermediate/high-grade </span>prostate carcinoma<span> (PCa). A retrospective review identified 168 patients diagnosed with AIP. Twenty-five (15 %) were AIP alone, the rest with PCa. Follow-up biopsy or RP within 12 months was collected on patients with AIP-only, AIP and grade-group (GG)1, and AIP and GG2 PCa [&lt;20 % </span></span>Gleason pattern 4 (GP4) without cribriform glands] who met pathologic criteria for active surveillance (AS). From 110 patients who met pathologic AS criteria, 66 did not have follow-up tissue. The findings among 28 patients with repeat biopsy were as follows: 14 (50 %) were reclassified as a higher GG, including 3/6 (50 %) from AIP-only [1 to GG1 and 2 to GG2 (60 % and 20 % GP4)], 8/16 from AIP/GG1 [50 %, all to GG2 (1 with 30 %, all others with &lt;20 % GP4)], 3/6 (50 %) from AIP/GG2 (&lt;20 % GP4) [1 to GG3, and 2 to AIP/GG2 but with ≥20 % GP4]. Five (18 %) patients no longer met pathologic criteria for AS. Among patients with RP, 4 (33 %) showed IDC-P. Quantitative and morphologic evaluation showed that higher number of cores, foci, and lumina in AIP with cribriform glands were more frequent in patients who were reclassified into higher grade-groups. In conclusion, AIP should be considered a potential marker for aggressive disease, warranting further evaluation. Although similar to IDC-P, it should remain a separate entity, as repeat biopsy does not show higher-than-expected AS exit rate.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105841"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Evaluation of a novel surrogate panel for classifying human colorectal carcinomas according to consensus molecular subtypes 根据一致的分子亚型对人类结直肠癌进行分类的新型替代面板的评估。
IF 2.6 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105840
Priyanka Mani , Lalita Mehra , Rakesh Deepak , Ashok Tiwari , Sunil Kumar , Chethan R , Rimlee Dutta , Nihar R. Dash , Rajni Yadav , S.V.S. Deo , Prasenjit Das
{"title":"Evaluation of a novel surrogate panel for classifying human colorectal carcinomas according to consensus molecular subtypes","authors":"Priyanka Mani ,&nbsp;Lalita Mehra ,&nbsp;Rakesh Deepak ,&nbsp;Ashok Tiwari ,&nbsp;Sunil Kumar ,&nbsp;Chethan R ,&nbsp;Rimlee Dutta ,&nbsp;Nihar R. Dash ,&nbsp;Rajni Yadav ,&nbsp;S.V.S. Deo ,&nbsp;Prasenjit Das","doi":"10.1016/j.humpath.2025.105840","DOIUrl":"10.1016/j.humpath.2025.105840","url":null,"abstract":"<div><div><span>Clinical triaging of colorectal carcinomas<span> (CRCs) is essential for prognostication and therapeutic decision-making. Consensus Molecular Subtyping (CMS) was developed for this purpose; however, it requires comprehensive genomic and transcriptomic studies and prediction algorithms, restricting its usage. We examined the utility of a limited surrogate panel of markers for classifying CRCs. We investigated the expression of immunohistochemical markers MLH1, PMS2, MSH2, MSH6, CDX2, HTRB2, FRMD6, and GLUT1, along with </span></span>reverse transcriptase polymerase chain reaction<span> for KRAS mutation in a retrospective cohort of 100 CRCs. MMR-deficient cases were classified as CMS1. Differential expressions of other markers, alongside consideration of KRAS mutation status as per CMS guidelines, were utilized to classify the tumors into three additional groups. A significant correlation was observed between tumor subtypes and TNM stage groups (P 0.04). While most stage I and II tumors were CMS1 (77.1 %, n-27/35) and CMS2 tumors (91.7 %, n-11/12), stage III and IV tumors were mostly CMS3 (50 %, n-6/12) and CMS4 (44.8 %, n = 13/29) tumors. Our algorithm classified the CRCs into prognostically favorable CMS2/CMS3 types, then unfavorable CMS1/CMS4 types. Notably, However, overall survival and disease-free survivals did not differ as per the individual CMS types. This study highlights the potential of surrogate tumor typing for clinical triaging. However, further research, building on the findings of this study and existing IHC-based classifiers, is essential to develop a more effective and practical surrogate classifier.</span></div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105840"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
New insights into the adverse prognostic role of squamous differentiation in intrahepatic cholangiocarcinoma: A comprehensive analysis 对肝内胆管癌鳞状分化不良预后作用的新认识:一项综合分析。
IF 2.7 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105824
Quynh Nguyen Thi , Hiep Nguyen Canh , Zihan Li , Khuyen Nguyen Thi , Kaori Yoshimura , Kenta Takahashi , Rui Yang , Dong Le Thanh , Tram Nguyen Thi , Shintaro Yagi , Kenichi Harada
{"title":"New insights into the adverse prognostic role of squamous differentiation in intrahepatic cholangiocarcinoma: A comprehensive analysis","authors":"Quynh Nguyen Thi ,&nbsp;Hiep Nguyen Canh ,&nbsp;Zihan Li ,&nbsp;Khuyen Nguyen Thi ,&nbsp;Kaori Yoshimura ,&nbsp;Kenta Takahashi ,&nbsp;Rui Yang ,&nbsp;Dong Le Thanh ,&nbsp;Tram Nguyen Thi ,&nbsp;Shintaro Yagi ,&nbsp;Kenichi Harada","doi":"10.1016/j.humpath.2025.105824","DOIUrl":"10.1016/j.humpath.2025.105824","url":null,"abstract":"<div><h3>Objectives</h3><div>Squamous differentiation is uncommon in intrahepatic cholangiocarcinoma (iCCA) with limited systematic studies in the literature, mostly case reports. The study aimed to determine the rate of squamous differentiation in iCCA utilizing markers p63, Keratin 5/6, and p40, and to examine its correlation with clinicopathological characteristics and survival outcomes.</div></div><div><h3>Methods and results</h3><div>A retrospective analysis was performed on 147 patients with histologically confirmed iCCA based on surgical specimens. A sample was classified as having squamous differentiation if it exhibited a solid growth pattern of polygonal tumor cells with keratinization or a solid growth pattern with at least the positivity of two of the three abovementioned markers. The rate of squamous differentiation in iCCA was determined to be 12.9 % (19/147). p40 demonstrates the highest sensitivity and specificity for identifying squamous differentiation in iCCA, recorded at 94.7 % and 87.5 %, respectively. Squamous differentiation in iCCA was found to be associated with large tumor size, large bile duct subtype, poorly differentiated adenocarcinoma component, activated tumor microenvironment, tumor necrosis, high tumor budding, increased invasiveness, and advanced pT stages. Patients with greater than 30 % squamous differentiation had significantly shorter median overall survival and disease-free survival than controls.</div></div><div><h3>Conclusions</h3><div>These results suggest that squamous differentiation serves as an unfavorable prognosis factor in iCCA, and a threshold of 30 % for the squamous differentiation component can be considered to classify a tumor as adenosquamous carcinoma in iCCA.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105824"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Reassessing the routine histopathological evaluation of anastomotic doughnuts in colorectal procedures: A 10-year retrospective study 重新评估结直肠手术中吻合圈的常规组织病理学评估:一项10年回顾性研究。
IF 2.6 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105836
Sherehan Zada, Sumayya Aslam, Sejal Shah, Vishal S. Chandan
{"title":"Reassessing the routine histopathological evaluation of anastomotic doughnuts in colorectal procedures: A 10-year retrospective study","authors":"Sherehan Zada,&nbsp;Sumayya Aslam,&nbsp;Sejal Shah,&nbsp;Vishal S. Chandan","doi":"10.1016/j.humpath.2025.105836","DOIUrl":"10.1016/j.humpath.2025.105836","url":null,"abstract":"<div><div>Anastomotic doughnuts (ATD) are routinely submitted for pathological evaluation during colorectal surgery<span><span><span> despite limited evidence supporting its clinical significance. This retrospective study aimed to analyze the pathological findings and cost-effectiveness of examining ATDs. A total of 870 pairs of ATDs from 870 patients who underwent colorectal surgery between 2012 and 2022 were included in the study. Microscopic examination was performed in all cases, and clinical charts and pathology reports were reviewed. The average cost of processing each case was conservatively estimated at US$ 59, with a total cost of US$ 51,185 during the study period. Of the 870 cases, 317 (36.4 %) were obtained from surgical procedures for benign conditions, whereas 553 (63.6 %) were from procedures related to malignant or neoplastic conditions. In cases of surgery for benign conditions (n = 317), no neoplastic or cancerous changes were observed in the ATDs. Among the malignant cases (n = 553), only 14 (1.6 % of the total 870 cases) showed neoplastic findings, including ovarian/endometrial carcinoma (n = 7), </span>tubular adenoma (n = 4), colonic </span>mucinous adenocarcinoma (n = 1), high-grade squamous intraepithelial lesion (n = 1), and low-grade B-cell lymphoma (n = 1). However, these findings did not interfere with the postsurgical or clinical management. The results suggest that routine pathological examination of ATDs provides limited clinical benefits and incurs significant costs. Pathology departments and surgeons should consider revising their protocols to limit examinations to a subset of high-risk cases where the results could potentially impact patient outcomes.</span></div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105836"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144257971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
INSM1: A highly sensitive marker for primary and metastatic Merkel cell carcinoma, superior to SOX11, pancytokeratin, and CK20 INSM1:原发性和转移性默克尔细胞癌的高度敏感标志物,优于SOX11、全细胞角蛋白和CK20。
IF 2.6 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105838
Jeongeun Do , Yunyi Wang , Phyu P. Aung , Priyadharsini Nagarajan , Jing Ning , Jonathan L. Curry , Doina Ivan , Volha Lenskaya , Carlos A. Torres-Cabala , Victor G. Prieto , Woo Cheal Cho
{"title":"INSM1: A highly sensitive marker for primary and metastatic Merkel cell carcinoma, superior to SOX11, pancytokeratin, and CK20","authors":"Jeongeun Do ,&nbsp;Yunyi Wang ,&nbsp;Phyu P. Aung ,&nbsp;Priyadharsini Nagarajan ,&nbsp;Jing Ning ,&nbsp;Jonathan L. Curry ,&nbsp;Doina Ivan ,&nbsp;Volha Lenskaya ,&nbsp;Carlos A. Torres-Cabala ,&nbsp;Victor G. Prieto ,&nbsp;Woo Cheal Cho","doi":"10.1016/j.humpath.2025.105838","DOIUrl":"10.1016/j.humpath.2025.105838","url":null,"abstract":"<div><div><span>Detection of Merkel cell carcinoma<span> (MCC) micrometastases<span><span><span> in sentinel lymph nodes (SLNs) often necessitates immunohistochemical studies like pancytokeratin (panCK) or CK20. However, panCK can label non-epithelial cells, particularly dendritic </span>reticulum cells<span>, complicating interpretation, while CK20 is absent in up to 24 % of MCCs, leading to potential false negatives. Recent evidence suggests SOX11 and INSM1 as sensitive nuclear neuroendocrine markers, though their comparative performance in this setting remains unclear. We assessed the expression of panCK (AE1/AE3, CK8/18, Cam5.2, and MNF116), CK20, SOX11, and INSM1 in 25 primary MCCs and 8 </span></span>nodal metastases. SOX11 and INSM1 demonstrated the highest median H-scores (both 297), significantly outperforming panCK and CK20 (both 255) (</span></span></span><em>p</em> &lt; 0.001). Although median H-scores for SOX11 and INSM1 were similar, 9 % (3/33) of cases lacked SOX11 expression. Direct comparison revealed significant differences in proportion and median H-score between SOX11 and INSM1 (<em>p</em> = 0.020 and <em>p</em> = 0.012, respectively), while intensity did not differ significantly (<em>p</em><span><span> = 0.317). When used alongside panCK, INSM1 yielded the highest combined sensitivity (100 %), surpassing panCK/CK20 and panCK/SOX11 combinations. These findings support the use of a panCK/INSM1 panel as a highly sensitive approach for detecting MCC micrometastases in SLNs. While INSM1 demonstrates robust performance, interpretation must account for background </span>immunoreactivity in hematolymphoid elements, a possible and important diagnostic pitfall when using this marker in clinical practice. Further prospective studies with larger and more diverse cohorts may be needed to confirm these results and refine the optimal immunohistochemical strategy for MCC detection in SLNs.</span></div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105838"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144283743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The sensitivity and specificity of Claudin18.2 and MUC6 in the differential diagnosis of endocervical gastric-type glandular lesions Claudin18.2和MUC6在宫颈内胃型腺体病变鉴别诊断中的敏感性和特异性
IF 2.7 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105837
Fangfang Zhong , Zuocheng Ren , Wei Li , Terrell Jones , Xianxu Zeng , Shuni Wang , Xiang Tao , Chengquan Zhao
{"title":"The sensitivity and specificity of Claudin18.2 and MUC6 in the differential diagnosis of endocervical gastric-type glandular lesions","authors":"Fangfang Zhong ,&nbsp;Zuocheng Ren ,&nbsp;Wei Li ,&nbsp;Terrell Jones ,&nbsp;Xianxu Zeng ,&nbsp;Shuni Wang ,&nbsp;Xiang Tao ,&nbsp;Chengquan Zhao","doi":"10.1016/j.humpath.2025.105837","DOIUrl":"10.1016/j.humpath.2025.105837","url":null,"abstract":"<div><div>Endocervical gastric-type adenocarcinoma (GAS) when well-differentiated or with less mucin may lead to misdiagnosis, particularly in biopsy specimens. This study aimed to evaluate the sensitivity and specificity of Claudin18.2 and MUC6 in the diagnosis of GAS and its precursor lesions. 167 cases from the Department of Pathology, Obstetrics and Gynecology Hospital of Fudan University (OGHFU) were selected, including 43 cases of usual type endocervical adenocarcinoma (UEA), 43 cases of GAS, 20 lobular endocervical glandular hyperplasia (LEGH) cases, 21 atypical LEGH (ALEGH) cases, and 40 normal/benign cases. A panel of immunohistochemical stains (IHC) for Claudin18.2, MUC6, P53, and P16 were performed on all cases. IHC expression in &gt;5 % tumor cells was considered positive for Claudin18.2 and MUC6. An IHC composite score was calculated by multiplying the individual scores of extents by intensity. P53 was considered positive/mutant with the presence of strong nuclear reactivity in ≥75 % of cells (overexpression), was completely negative (null expression), or showed cytoplasmic staining. P16 was considered positive if diffuse block-type staining. Claudin18.2 was positive in all cases of LEGH and ALEGH and 83.7 % (36/43) GAS cases but was negative in all UEA and benign cases. MUC6 was positive in all LEGH and ALEGH cases, 88.4 % (38/43) of GAS cases, as well as 40.0 % (16/40) of benign and 20.9 % (9/43) of UEA cases. P53 mutant expression was found in 62.8 % (27/43) of GAS cases, 10 of which showed P16 diffuse staining and 10 of which were completely negative for P16. The composite scores of both Claudin18.2 and MUC6 were higher in ALEGH/LEGH than in GAS. Claudin 18.2 is a sensitive and specific marker for cervical gastric-type glandular lesions, not expressed in normal cervical tissues but expressed in all of the LEGH/ALEGH cases. However, it was not helpful in differentiating GAS from ALEGH. MUC6 is a highly sensitive marker for LEGH and GAS, yet its specificity is much lower than that of Claudin18.2. Taking morphology as the cornerstone and combining immunomarkers such as P16, P53, Claudin18.2 and MUC6 can significantly enhance the diagnostic efficiency of gastric-type glandular lesions.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105837"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Morphologic and immunophenotypic characterization of conventional FLCN-mutated tumors (FMT) compared to a series of 8 non-conventional FMT 常规flcn突变肿瘤(FMT)与一系列8个非常规FMT的形态学和免疫表型特征比较
IF 2.7 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105813
Sounak Gupta , Surendra Dasari , Wei Shen , Hussam Al-Kateb , Emily G. Barr Fritcher , Nate R. Torell , Leah M. Nelson , Yelena Kalugina , Kingsley Ebare , Melissa L. Stanton , Santosh Menon , Burak Tekin , Rumeal D. Whaley , Loren P. Herrera Hernandez , Aditya Raghunathan , Rafael E. Jimenez , Benjamin R. Kipp , Lori A. Erickson , John C. Cheville
{"title":"Morphologic and immunophenotypic characterization of conventional FLCN-mutated tumors (FMT) compared to a series of 8 non-conventional FMT","authors":"Sounak Gupta ,&nbsp;Surendra Dasari ,&nbsp;Wei Shen ,&nbsp;Hussam Al-Kateb ,&nbsp;Emily G. Barr Fritcher ,&nbsp;Nate R. Torell ,&nbsp;Leah M. Nelson ,&nbsp;Yelena Kalugina ,&nbsp;Kingsley Ebare ,&nbsp;Melissa L. Stanton ,&nbsp;Santosh Menon ,&nbsp;Burak Tekin ,&nbsp;Rumeal D. Whaley ,&nbsp;Loren P. Herrera Hernandez ,&nbsp;Aditya Raghunathan ,&nbsp;Rafael E. Jimenez ,&nbsp;Benjamin R. Kipp ,&nbsp;Lori A. Erickson ,&nbsp;John C. Cheville","doi":"10.1016/j.humpath.2025.105813","DOIUrl":"10.1016/j.humpath.2025.105813","url":null,"abstract":"<div><h3>Background</h3><div>Recent studies suggest that hybrid oncocytoma/chromophobe tumors in Birt-Hogg-Dubé Syndrome (BHD) may instead represent unique tumors. We performed histologic assessment of <em>FLCN</em>-mutated tumors (FMT) to better separate conventional (c-FMT) from non-conventional tumors (nc-FMT), as the latter can behave aggressively.</div></div><div><h3>Methods</h3><div>Histologic features of c-FMT were compared to 8 nc-FMT. Immunohistochemistry (IHC) of representative FMT and morphologic mimics was quantified using H-scores (range: 0–300). Molecular profiling of nc-FMT included NGS, chromosomal microarrays, and FISH for <em>TFE3/TFEB</em>.</div></div><div><h3>Results</h3><div>A single c-FMT was identified in the setting of Smith-Magenis Syndrome (germline terminal 17p microdeletion associated with a second hit of <em>FLCN</em>). nc-FMT accounted for a minority of FMT in 25 patients (8/89, 9 %), had a mean size of 8.0 cm, and they exhibited papillary and microcystic features in 3/8 (38 %) patients, each. Germline <em>FLCN</em> alterations were confirmed in 4 BHD patients with nc-FMT, and biallelic <em>FLCN</em> inactivation was documented for 7/8 (88 %) nc-FMT. Screening IHC showed inconsistent results in nc-FMT compared to c-FMT for SOX9 (mean H-score: 60 vs 208) as opposed to mean H-scores for L1CAM (187 vs 176) and GPNMB (266 vs 267). Two nc-FMT with variable levels of <em>TFEB</em> gain/amplification showed aggressive behavior. Positivity for markers such as cathepsin K/melan A was only seen for a <em>TFEB</em>-amplified nc-FMT, suggesting that such markers may have a role in screening for aggressive nc-FMT.</div></div><div><h3>Conclusions</h3><div>Our results can serve as a framework for the development of essential diagnostic criteria for c-FMT, and their separation from nc-FMT which can occasionally show aggressive behavior associated with <em>TFEB</em> amplification.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105813"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Female reproductive tract inflammatory myofibroblastic tumor (IMT): A comprehensive analysis of clinicopathological and genomic features in a case series, including the identification of SERPINE1-ALK fusion in the fallopian tube 女性生殖道炎症性肌纤维母细胞瘤(IMT):临床病理和基因组特征的综合分析,包括输卵管SERPINE1-ALK融合的鉴定。
IF 2.6 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105839
Ting Lei , Bingbing Liu , Yani Wei , Yongqiang Shi , Wei Zhao , Yuqing Cheng , Haiyan Wang , Fenghua Zhang , Dachuan Zhang , Qing Li , Xian Qiang
{"title":"Female reproductive tract inflammatory myofibroblastic tumor (IMT): A comprehensive analysis of clinicopathological and genomic features in a case series, including the identification of SERPINE1-ALK fusion in the fallopian tube","authors":"Ting Lei ,&nbsp;Bingbing Liu ,&nbsp;Yani Wei ,&nbsp;Yongqiang Shi ,&nbsp;Wei Zhao ,&nbsp;Yuqing Cheng ,&nbsp;Haiyan Wang ,&nbsp;Fenghua Zhang ,&nbsp;Dachuan Zhang ,&nbsp;Qing Li ,&nbsp;Xian Qiang","doi":"10.1016/j.humpath.2025.105839","DOIUrl":"10.1016/j.humpath.2025.105839","url":null,"abstract":"<div><div><span><span>Inflammatory myofibroblastic tumors<span> (IMTs) of the female reproductive tract are rare neoplasms, predominantly originating in the uterus, but can occasionally be identified in other locations. This retrospective study included 15 cases from six hospitals in China between 2017 and 2024, comprising 14 cases involving the uterus and one involving a </span></span>fallopian tube<span>. DNA and RNA next-generation sequencing (NGS) was conducted on all samples. The age of onset ranged from 34 to 54 years, with a median of 41 years and a mean of 42.40 ± 1.32 years. Tumor sizes varied from 2.9 cm to 10.0 cm, with a median size of 6.00 cm and a mean size of 5.90 ± 0.45 cm. RNA sequencing demonstrated </span></span><span><em>ALK</em></span> rearrangements with either identical or distinct fusion partners in individual cases, including a new partner, <em>SERPINE1,</em><span> detected in the case involving the fallopian tube. DNA sequencing<span> revealed that 46.7 % (7/15) of the cases exhibited additional gene mutations, including one case with a </span></span><em>TP53</em><span> mutation that had been previously reported and subsequently developed metastasis within a few months. </span><em>ALK</em> rearrangement remains the primary driver gene and therapeutic target for this type of tumor. From the perspective of predicting tumor biology, genetic variations at the DNA level, in addition to clinicopathological parameters, are equally significant and may provide a critical foundation for prognosis.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105839"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Correlation with CD79B expression and clinicopathological parameters including cell of origin, CD79A and CD19 expression, and CD79B mutation in diffuse large B-cell lymphoma 弥漫性大b细胞淋巴瘤中CD79B表达与临床病理参数(包括起源细胞、CD79A和CD19表达、CD79B突变)的相关性
IF 2.6 2区 医学
Human pathology Pub Date : 2025-06-01 DOI: 10.1016/j.humpath.2025.105852
Yuto Kaimi , Maki Shibata , Suguru Fukuhara , Yuka Takahashi , Tetsuro Ochi , Shinichi Makita , Noriko Iwaki , Wataru Munakata , Koji Izutsu , Yasushi Yatabe , Akiko Miyagi Maeshima
{"title":"Correlation with CD79B expression and clinicopathological parameters including cell of origin, CD79A and CD19 expression, and CD79B mutation in diffuse large B-cell lymphoma","authors":"Yuto Kaimi ,&nbsp;Maki Shibata ,&nbsp;Suguru Fukuhara ,&nbsp;Yuka Takahashi ,&nbsp;Tetsuro Ochi ,&nbsp;Shinichi Makita ,&nbsp;Noriko Iwaki ,&nbsp;Wataru Munakata ,&nbsp;Koji Izutsu ,&nbsp;Yasushi Yatabe ,&nbsp;Akiko Miyagi Maeshima","doi":"10.1016/j.humpath.2025.105852","DOIUrl":"10.1016/j.humpath.2025.105852","url":null,"abstract":"<div><div><span><span><span>CD79B<span>, the target of polatuzumab vedotin—an anti-CD79B antibody-drug conjugate—has shown greater efficacy in activated B-cell-type diffuse large B-cell lymphoma (DLBCL) than in germinal center B-cell (GCB) type. However, the correlation between CD79B expression and the clinicopathological parameters in DLBCL remains unknown. We evaluated CD79B expression using the H-score (range: 0–300) in 379 samples from 280 patients with DLBCL. Low CD79B expression (H-score ≤100) was observed in 48 samples (13 %), with 11 samples (3 %) showing no detectable expression. Notably, CD79B expression was significantly lower in the non-GCB type than in the GCB type (P &lt; 0.001). Low CD79B expression correlated with advanced stage (P = 0.013), </span></span>CD5 positivity (P = 0.014), and immunoblastic type (P = 0.067). Among the 48 DLBCL samples with low CD79B expression, 90 % demonstrated high (H-score &gt;100) CD79A and </span>CD19<span> expression. No mutation in the first tyrosine residue of </span></span><em>CD79B</em> immunoreceptor tyrosine-based activation motif, Y196, was identified in DLBCL with low CD79B expression. Additionally, low CD79B expression was not associated with the co-occurrence of <em>CD79B</em> ITAM and <span><span>MYD88</span></span><span><span><span> L265P mutations (P = 0.748). Of the 78 patients with multiple biopsy specimens obtained from multiple sites or recurrent tumors, a change in CD79B expression from low to high or verse versa was observed in 9 % of patients. In conclusion, CD79B expression was lower in the non-GCB type than in the GCB type. CD79B, CD79A, and </span>CD19 expressions were not completely correlated, and one expression cannot predict the others. In 9 % of patients, CD79B expression was inconsistent in multiple </span>biopsy samples.</span></div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"160 ","pages":"Article 105852"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144309880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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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