Pub Date : 2026-02-01Epub Date: 2025-08-13DOI: 10.1016/j.anndiagpath.2025.152538
Kadri Altundag
Elgohary et al. reported high TRPS1 and moderate SOX10 expression in triple-negative breast cancer (TNBC). While these findings suggest potential diagnostic value, the absence of non-breast controls, variation in positivity thresholds, and exclusion of small biopsy and neoadjuvant-treated cases limit applicability in metastatic settings. Broader, multi-tumor validation—benchmarked against established marker panels—is needed before routine use in TNBC diagnosis.
{"title":"SOX10 and TRPS1 in triple-negative breast cancer: Promise, pitfalls, and the need for broader validation","authors":"Kadri Altundag","doi":"10.1016/j.anndiagpath.2025.152538","DOIUrl":"10.1016/j.anndiagpath.2025.152538","url":null,"abstract":"<div><div>Elgohary et al. reported high TRPS1 and moderate SOX10 expression in triple-negative breast cancer (TNBC). While these findings suggest potential diagnostic value, the absence of non-breast controls, variation in positivity thresholds, and exclusion of small biopsy and neoadjuvant-treated cases limit applicability in metastatic settings. Broader, multi-tumor validation—benchmarked against established marker panels—is needed before routine use in TNBC diagnosis.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152538"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144851891","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}
Although serial sectioning may improve diagnostic yield, no standardized protocol currently exists for endoscopic gastrointestinal (GI) biopsies. The aim of this study was to determine whether examining two serially sectioned slides from each biopsy specimen increases the detection of clinically relevant histopathological findings. In this prospective study, 1715 endoscopic GI biopsy specimens were evaluated using a two-slide serial sectioning approach, with eight consecutive sections per slide. A diagnostic discrepancy was defined as the presence of a histopathological finding on one slide that was absent on the other, thereby representing slide-to-slide variability in detection. Each biopsy specimen was treated as an individual case for serial sectioning and diagnostic assessment purposes, regardless of patient identity, as the study focused on per-sample diagnostic variability. Diagnostic discrepancies between slides were found in 2.2 % of cases, with 1.4 % deemed clinically significant. These included both gain of additional findings on the second slide and loss of findings that were present only on the first slide. Intestinal metaplasia was the most frequently observed clinically relevant finding, particularly in antral biopsies. Importantly, no additional malignancies were identified on second slides, and none of the biopsy-related variables showed a significant association with diagnostic discrepancies. Overall, these findings suggest that, while infrequent, diagnostic discrepancies introduced by serial sectioning may have meaningful clinical implications—particularly in detecting preneoplastic conditions such as intestinal metaplasia in the antrum.
{"title":"Evaluation of gastrointestinal biopsies with two-slide serial sections: Analysis of 1715 cases with emphasis on clinical impact","authors":"Nuray Tezcan , Rohat Esmer , Gulbanu Canbaloglu , Gokhan Baysoy , Pınar Korkmaz , Merve Senturk , Serdar Balci , Burcu Saka","doi":"10.1016/j.anndiagpath.2025.152566","DOIUrl":"10.1016/j.anndiagpath.2025.152566","url":null,"abstract":"<div><div>Although serial sectioning may improve diagnostic yield, no standardized protocol currently exists for endoscopic gastrointestinal (GI) biopsies. The aim of this study was to determine whether examining two serially sectioned slides from each biopsy specimen increases the detection of clinically relevant histopathological findings. In this prospective study, 1715 endoscopic GI biopsy specimens were evaluated using a two-slide serial sectioning approach, with eight consecutive sections per slide. A diagnostic discrepancy was defined as the presence of a histopathological finding on one slide that was absent on the other, thereby representing slide-to-slide variability in detection. Each biopsy specimen was treated as an individual case for serial sectioning and diagnostic assessment purposes, regardless of patient identity, as the study focused on per-sample diagnostic variability. Diagnostic discrepancies between slides were found in 2.2 % of cases, with 1.4 % deemed clinically significant. These included both gain of additional findings on the second slide and loss of findings that were present only on the first slide. Intestinal metaplasia was the most frequently observed clinically relevant finding, particularly in antral biopsies. Importantly, no additional malignancies were identified on second slides, and none of the biopsy-related variables showed a significant association with diagnostic discrepancies. Overall, these findings suggest that, while infrequent, diagnostic discrepancies introduced by serial sectioning may have meaningful clinical implications—particularly in detecting preneoplastic conditions such as intestinal metaplasia in the antrum.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152566"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145151789","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}
Pub Date : 2026-02-01Epub Date: 2025-10-20DOI: 10.1016/j.anndiagpath.2025.152580
Melissa D. Hruby , Laura M. Warmke , Carina A. Dehner , Iván A. González
Morel-Lavallée lesions (MLLs) are trauma-induced soft tissue injuries that can clinically mimic neoplasms, yet the pathologic features have only been reported for four cases. To address this, a retrospective case search was conducted at our institution from 2015 to 2022, yielding six cases. The combined ten patients presented with a mean age of 46 years (range: 13–72 years) with an equal gender distribution. Half of these cases resulted from motor vehicle accidents, while the other half were sports-related or due to mechanical falls. The median interval from injury to presentation was 6 months (range: <1 month −17 years), and from injury to MLL diagnosis was 12 months (range: 1.5 months – 25 years). These lesions most frequently involved the thigh (5/10, 50 %), hip or buttock (4/10, 40 %), and less commonly the lower leg (1/10, 10 %). Clinically, the majority of cases (8/10, 80 %) presented as tender, palpable mass-like lesions, while the remainder (2/10, 20 %) presented in association with a cellulitic wound or fistula. Histologically, most cases exhibited fibroconnective tissue with reactive myofibroblasts, fat necrosis, and fibrin deposition (9/10, 90 %), as well as pseudocyst or cystic components (6/10, 60 %). All ten patients underwent surgical excision with complete resolution and no complications. Given the surgical management of these lesions and their potential morphologic overlap with benign and malignant neoplasms, further histopathological documentation is warranted to improve recognition and prevent misdiagnosis.
{"title":"Histopathologic characterization of Morel-Lavallée lesion: Report of 6 cases and review of the literature","authors":"Melissa D. Hruby , Laura M. Warmke , Carina A. Dehner , Iván A. González","doi":"10.1016/j.anndiagpath.2025.152580","DOIUrl":"10.1016/j.anndiagpath.2025.152580","url":null,"abstract":"<div><div>Morel-Lavallée lesions (MLLs) are trauma-induced soft tissue injuries that can clinically mimic neoplasms, yet the pathologic features have only been reported for four cases. To address this, a retrospective case search was conducted at our institution from 2015 to 2022, yielding six cases. The combined ten patients presented with a mean age of 46 years (range: 13–72 years) with an equal gender distribution. Half of these cases resulted from motor vehicle accidents, while the other half were sports-related or due to mechanical falls. The median interval from injury to presentation was 6 months (range: <1 month −17 years), and from injury to MLL diagnosis was 12 months (range: 1.5 months – 25 years). These lesions most frequently involved the thigh (5/10, 50 %), hip or buttock (4/10, 40 %), and less commonly the lower leg (1/10, 10 %). Clinically, the majority of cases (8/10, 80 %) presented as tender, palpable mass-like lesions, while the remainder (2/10, 20 %) presented in association with a cellulitic wound or fistula. Histologically, most cases exhibited fibroconnective tissue with reactive myofibroblasts, fat necrosis, and fibrin deposition (9/10, 90 %), as well as pseudocyst or cystic components (6/10, 60 %). All ten patients underwent surgical excision with complete resolution and no complications. Given the surgical management of these lesions and their potential morphologic overlap with benign and malignant neoplasms, further histopathological documentation is warranted to improve recognition and prevent misdiagnosis.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152580"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145356765","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}
Pub Date : 2026-02-01Epub Date: 2025-10-01DOI: 10.1016/j.anndiagpath.2025.152567
Jing Jia , Ying Zhou , Ajin Hu , Yuxiang Wang , Yue Wang , Yan Liu , Xinlan Shi , Caixia Ren , Congrong Liu
In this study, to evaluate the diagnostic accuracy and clinical reliability of intraoperative frozen sections (IFS) compared with paraffin-embedded sections (PS) in guiding surgical decision-making for endometrial carcinoma (EC) patients, we retrospectively analyzed the clinical data of 165 EC patients who underwent surgical resection with IFS evaluation. Diagnostic concordance between IFS and final PS pathology was assessed across six parameters: 1) tumor histological type, 2) tumor grade, 3) depth of myometrial invasion (MI), 4) cervical stromal involvement, 5) lymphovascular space invasion (LVSI) status, and 6) lymph node metastasis risk stratification. The data were statistically analyzed using Kappa coefficient and chi-square test. The IFS results concurred with the PS in 95.3 % for histological type (kappa 0.859, p = 0.125), 94.0 % for tumor grade (kappa 0.848, p = 0.039), 97.6 % for depth of MI (kappa 0.929, p = 0.046), 95.2 % for cervical involvement (kappa 0.481, p = 0.008), and 88.5 % for LVSI (kappa 0.155, p < 0.001). Risk assessment was accurately determined in 92.1 % of cases (kappa 0.796, p < 0.001). Final histopathology confirmed pelvic and paraaortic lymph node metastases in two patients whose metastatic risk had been underestimated based on the IFS risk stratification. High-intermediate/high-risk patients showed significantly higher lymph node involvement compared to low/intermediate-risk groups. IFS analysis demonstrates reliability and clinical utility in assessing disease extent and guiding surgical decisions regarding the need for complete staging procedures in EC patients.
本研究为评价术中冷冻切片（IFS）与石蜡包埋切片（PS）在指导子宫内膜癌（EC）患者手术决策中的诊断准确性和临床可靠性，回顾性分析了165例经IFS评估的子宫内膜癌手术切除患者的临床资料。IFS与最终PS病理诊断的一致性通过以下六个参数进行评估：1)肿瘤组织学类型，2)肿瘤分级，3)肌层浸润深度（MI）， 4)宫颈间质累及，5)淋巴血管间隙浸润（LVSI）状态，6)淋巴结转移风险分层。采用Kappa系数和卡方检验对数据进行统计学分析。IFS结果与PS的一致性为：组织学类型95.3% (kappa 0.859, p = 0.125)，肿瘤分级94.0% (kappa 0.848, p = 0.039)，心肌梗死深度97.6% (kappa 0.929, p = 0.046)，宫颈受损伤95.2% (kappa 0.481, p = 0.008), LVSI 88.5% （kappa 0.155, p = 0.046）
{"title":"Accuracy and clinical value of intraoperative frozen section assessment in endometrial carcinoma","authors":"Jing Jia , Ying Zhou , Ajin Hu , Yuxiang Wang , Yue Wang , Yan Liu , Xinlan Shi , Caixia Ren , Congrong Liu","doi":"10.1016/j.anndiagpath.2025.152567","DOIUrl":"10.1016/j.anndiagpath.2025.152567","url":null,"abstract":"<div><div>In this study, to evaluate the diagnostic accuracy and clinical reliability of intraoperative frozen sections (IFS) compared with paraffin-embedded sections (PS) in guiding surgical decision-making for endometrial carcinoma (EC) patients, we retrospectively analyzed the clinical data of 165 EC patients who underwent surgical resection with IFS evaluation. Diagnostic concordance between IFS and final PS pathology was assessed across six parameters: 1) tumor histological type, 2) tumor grade, 3) depth of myometrial invasion (MI), 4) cervical stromal involvement, 5) lymphovascular space invasion (LVSI) status, and 6) lymph node metastasis risk stratification. The data were statistically analyzed using Kappa coefficient and chi-square test. The IFS results concurred with the PS in 95.3 % for histological type (kappa 0.859, <em>p</em> = 0.125), 94.0 % for tumor grade (kappa 0.848, <em>p</em> = 0.039), 97.6 % for depth of MI (kappa 0.929, <em>p</em> = 0.046), 95.2 % for cervical involvement (kappa 0.481, <em>p</em> = 0.008), and 88.5 % for LVSI (kappa 0.155, <em>p</em> < 0.001). Risk assessment was accurately determined in 92.1 % of cases (kappa 0.796, p < 0.001). Final histopathology confirmed pelvic and paraaortic lymph node metastases in two patients whose metastatic risk had been underestimated based on the IFS risk stratification. High-intermediate/high-risk patients showed significantly higher lymph node involvement compared to low/intermediate-risk groups. IFS analysis demonstrates reliability and clinical utility in assessing disease extent and guiding surgical decisions regarding the need for complete staging procedures in EC patients.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152567"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245835","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}
Pub Date : 2026-02-01Epub Date: 2025-08-26DOI: 10.1016/j.anndiagpath.2025.152540
Lina Han, Van Tuong Nguyen, Ruifang Zheng, Franklin Fuda, Miguel D. Cantu, Prasad Koduru, Jesse M. Jaso, Olga K. Weinberg, Sharon Germans, Mingyi Chen, Jing Xu, Weina Chen
B/T mixed-phenotype acute leukemia (MPAL) is a rare subtype of leukemia with diagnostic and therapeutic challenges due to its rarity, genomic diversity, and evolving diagnostic criteria. We report six cases of B/T MPAL with clinicopathological and genomic characterization. Most cases (5/6) demonstrated immunophenotypic/lineage-genotype-associations, i.e., T-lineage predominant B/T MPAL with T-lymphoblastic leukemia (T-ALL) genotype whereas B/T-lineage codominant B/T MPAL with combined T-ALL/B-ALL genotype. Furthermore, most patients (5/6) carried myelodysplasia-related (MR) cytogenetic-gene-alterations [MR-CG-Gene, as defined in acute myeloid leukemia (AML)-MR (AML-MR)], harboring ALL-genotype, and responded well to ALL-based induction regimens. These findings indicate that B/T MPAL with MR-CG-Gene is more appropriately diagnosed as MPAL rather than AML-MR. Our study is the first to demonstrate immunophenotypic lineage-genotype associations and frequent MR-CG-Gene in B/T MPAL and advocate more studies to refine diagnostic criteria.
{"title":"B/T mixed phenotype acute leukemia revealing immunophenotypic lineage-genotype associations and frequent myelodysplasia-related cytogenetic/gene abnormalities: implication for diagnosis and treatment","authors":"Lina Han, Van Tuong Nguyen, Ruifang Zheng, Franklin Fuda, Miguel D. Cantu, Prasad Koduru, Jesse M. Jaso, Olga K. Weinberg, Sharon Germans, Mingyi Chen, Jing Xu, Weina Chen","doi":"10.1016/j.anndiagpath.2025.152540","DOIUrl":"10.1016/j.anndiagpath.2025.152540","url":null,"abstract":"<div><div>B/T mixed-phenotype acute leukemia (MPAL) is a rare subtype of leukemia with diagnostic and therapeutic challenges due to its rarity, genomic diversity, and evolving diagnostic criteria. We report six cases of B/T MPAL with clinicopathological and genomic characterization. Most cases (5/6) demonstrated immunophenotypic/lineage-genotype-associations, i.e., T-lineage predominant B/T MPAL with T-lymphoblastic leukemia (T-ALL) genotype whereas B/T-lineage codominant B/T MPAL with combined T-ALL/B-ALL genotype. Furthermore, most patients (5/6) carried myelodysplasia-related (MR) cytogenetic-gene-alterations [MR-CG-Gene, as defined in acute myeloid leukemia (AML)-MR (AML-MR)], harboring ALL-genotype, and responded well to ALL-based induction regimens. These findings indicate that B/T MPAL with MR-CG-Gene is more appropriately diagnosed as MPAL rather than AML-MR. Our study is the first to demonstrate immunophenotypic lineage-genotype associations and frequent MR-CG-Gene in B/T MPAL and advocate more studies to refine diagnostic criteria.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152540"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144906888","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}
Pub Date : 2026-02-01Epub Date: 2025-08-26DOI: 10.1016/j.anndiagpath.2025.152555
Sanhia Maheshwari
{"title":"“Letter to the editor: MTAP and p16 as immunohistochemical surrogates of CDKN2A/B homozygous deletion in central nervous system tumors: A multicentre Italian experience.”","authors":"Sanhia Maheshwari","doi":"10.1016/j.anndiagpath.2025.152555","DOIUrl":"10.1016/j.anndiagpath.2025.152555","url":null,"abstract":"","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152555"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144921527","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}
Epithelioid mesothelioma (EM) is a pleural malignancy whose many histopathologic patterns may overlap considerably with those of lung adenocarcinoma (LAC) or poorly differentiated squamous cell carcinoma (SCC). This study aimed to evaluate the diagnostic role of SOX6 immunohistochemical expression in EM, study its differential expression in EM, LAC, and SCC, and evaluate the utility of various combinations of SOX6 with established EM markers calretinin and D2–40. The study included 39 EM, 21 LAC, and 11 SCC cases. SOX6 expression was detected in 71.8 % of EM cases. Conversely, all SCC cases were SOX6-negative, and only two LAC cases were SOX6-positive (P < 0.001). The sensitivity and specificity of SOX6 in identifying EM was 71.8 % and 93.8 %, respectively. Calretinin and D2–40 expression was detected in 100 % and 97.4 % cases of EM, respectively. The diagnostic sensitivity of SOX6 for EM in combination with D2–40 and/or calretinin was higher than SOX6 as a solitary marker. Notably, the sensitivity of calretinin and/or SOX6 positive expression was 100 % higher than that of SOX6 combination with D2–40. Although the sensitivity of SOX6 is lower than that of other established markers for EM, it may be a fairly specific marker for the diagnosis of EM. Therefore, the inclusion of SOX6 into an immunohistochemical panel may have diagnostic utility in distinguishing between EM and lung carcinomas. However, more research is needed on a wider array of tumor types from various organs to truly understand its global specificity.
{"title":"Evaluation of SOX6 immunohistochemical expression as a diagnostic marker in the distinction of epithelioid mesothelioma from lung carcinomas","authors":"Fatma Samy Hafez , Safaa Mahmoud Mohamed Abdelkhalek , Shaimaa Abdelraouf Elgohary","doi":"10.1016/j.anndiagpath.2025.152553","DOIUrl":"10.1016/j.anndiagpath.2025.152553","url":null,"abstract":"<div><div>Epithelioid mesothelioma (EM) is a pleural malignancy whose many histopathologic patterns may overlap considerably with those of lung adenocarcinoma (LAC) or poorly differentiated squamous cell carcinoma (SCC). This study aimed to evaluate the diagnostic role of SOX6 immunohistochemical expression in EM, study its differential expression in EM, LAC, and SCC, and evaluate the utility of various combinations of SOX6 with established EM markers calretinin and D2–40. The study included 39 EM, 21 LAC, and 11 SCC cases. SOX6 expression was detected in 71.8 % of EM cases. Conversely, all SCC cases were SOX6-negative, and only two LAC cases were SOX6-positive (<em>P</em> < 0.001). The sensitivity and specificity of SOX6 in identifying EM was 71.8 % and 93.8 %, respectively. Calretinin and D2–40 expression was detected in 100 % and 97.4 % cases of EM, respectively. The diagnostic sensitivity of SOX6 for EM in combination with D2–40 and/or calretinin was higher than SOX6 as a solitary marker. Notably, the sensitivity of calretinin and/or SOX6 positive expression was 100 % higher than that of SOX6 combination with D2–40. Although the sensitivity of SOX6 is lower than that of other established markers for EM, it may be a fairly specific marker for the diagnosis of EM. Therefore, the inclusion of SOX6 into an immunohistochemical panel may have diagnostic utility in distinguishing between EM and lung carcinomas. However, more research is needed on a wider array of tumor types from various organs to truly understand its global specificity.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152553"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144988605","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}
Pub Date : 2026-02-01Epub Date: 2025-10-10DOI: 10.1016/j.anndiagpath.2025.152576
Ayushi Sahay , Asawari Patil , Trupti Pai , Poonam Panjwani , Shalaka Joshi , Palak Popat Thakkar , Sangeeta B. Desai , Tanuja M. Shet
Invasive breast carcinoma (IBC) arising within microglandular adenosis (MGA-CA), a rarity, is usually triple-negative (TNBC). TNBC burden is high in the South-Asian region, but little is known about MGA-CA. Herein, we analyze the clinicopathological spectrum of MGA-CA diagnosed at our tertiary care oncology center. Twenty-three cases of MGA-CA from 2005 to 2024 were collected. Clinicopathological parameters, including immunohistochemistry and available follow-up, were noted. Median age was 47.5 years (range 33–60 years). Interestingly, 7/14 cases (50 %) either had a family history of malignancy or a germline BRCA1 mutation. Diagnostic core biopsies (n = 12) showed IBC in 5, MGA-CA in 3, and only atypical MGA (AMGA) in 4. Nearly all MGA-CA were grade 3 (22/23), no special type (15/23), and TNBC (22/23). Typical and/or AMGA showed a transition to AMGA-like in-situ carcinoma to IBC (12/23) or merged directly with IBC (9/23). Both MGA and IBC showed mutant-type p53 expression in the majority (11/14). The median follow-up duration (n = 16) was 46 months (range 4–128 months). Patients receiving neoadjuvant chemotherapy showed a good response (4/5 cases). Local/metastatic tumor progression was noted in 7/16 cases (43.75 %), higher in those with family history/BRCA+ status than without (57.1 % vs 33.3 %). Our study represents the second-largest single institutional MGA-CA series to date. Mutant-type p53 overexpression is noted in both MGA and associated CA, reinforcing MGA as a likely precursor to high-grade TNBC-type IBC. Diagnosis is possible even on core biopsies. Family history/germline BRCA mutations are frequent and herald higher chances of progression, suggesting the need for genetic testing in MGA-CA.
{"title":"Microglandular adenosis associated with invasive breast carcinoma: Tertiary care oncology centre experience of an under-recognized entity","authors":"Ayushi Sahay , Asawari Patil , Trupti Pai , Poonam Panjwani , Shalaka Joshi , Palak Popat Thakkar , Sangeeta B. Desai , Tanuja M. Shet","doi":"10.1016/j.anndiagpath.2025.152576","DOIUrl":"10.1016/j.anndiagpath.2025.152576","url":null,"abstract":"<div><div>Invasive breast carcinoma (IBC) arising within microglandular adenosis (MGA-CA), a rarity, is usually triple-negative (TNBC). TNBC burden is high in the South-Asian region, but little is known about MGA-CA. Herein, we analyze the clinicopathological spectrum of MGA-CA diagnosed at our tertiary care oncology center. Twenty-three cases of MGA-CA from 2005 to 2024 were collected. Clinicopathological parameters, including immunohistochemistry and available follow-up, were noted. Median age was 47.5 years (range 33–60 years). Interestingly, 7/14 cases (50 %) either had a family history of malignancy or a germline <em>BRCA1</em> mutation. Diagnostic core biopsies (<em>n</em> = 12) showed IBC in 5, MGA-CA in 3, and only atypical MGA (AMGA) in 4. Nearly all MGA-CA were grade 3 (22/23), no special type (15/23), and TNBC (22/23). Typical and/or AMGA showed a transition to AMGA-like in-situ carcinoma to IBC (12/23) or merged directly with IBC (9/23). Both MGA and IBC showed mutant-type p53 expression in the majority (11/14). The median follow-up duration (<em>n</em> = 16) was 46 months (range 4–128 months). Patients receiving neoadjuvant chemotherapy showed a good response (4/5 cases). Local/metastatic tumor progression was noted in 7/16 cases (43.75 %), higher in those with family history/<em>BRCA</em>+ status than without (57.1 % vs 33.3 %). Our study represents the second-largest single institutional MGA-CA series to date. Mutant-type p53 overexpression is noted in both MGA and associated CA, reinforcing MGA as a likely precursor to high-grade TNBC-type IBC. Diagnosis is possible even on core biopsies. Family history/germline <em>BRCA</em> mutations are frequent and herald higher chances of progression, suggesting the need for genetic testing in MGA-CA.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152576"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145395021","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}
Pub Date : 2026-02-01Epub Date: 2025-10-01DOI: 10.1016/j.anndiagpath.2025.152569
Danting Xiong , Xiaona Yin , Yongli Gan , Wenjuan Gan , Xiao Cheng , Ming Zhao
This study presents three molecularly confirmed cases of ALK-rearranged inflammatory myofibroblastic tumors (IMTs) occurring in superficial locations, demonstrating their rarity, clinicopathologic heterogeneity and diagnostic complexity. The series comprised tumors involving oropharyngeal mucosa, dermal/subcutaneous tissue of the forearm, and tongue mucosa. Histopathological evaluation revealed characteristic proliferations of spindle-to-ovoid cells arranged in fascicular patterns within variably collagenous to myxoid stroma, accompanied by chronic inflammatory infiltrates. Notable morphologic variations included: (1) rhabdomyoblastic differentiation evidenced by rhabdoid morphology and desmin, MyoD1 and myogenin co-expression in one case, histologically overlapping with inflammatory rhabdomyoblastic tumor; and (2) histiocytoid morphology featuring microvesicular cytoplasm in another case, resembling non-neural granular cell tumor. All cases exhibited strong diffuse cytoplasmic ALK immunoreactivity. Molecular profiling identified DCTN1(exon26)::ALK(exon20) fusions in two cases and TIMP3(exon1)::ALK(exon19) fusion in the lingual lesion, the latter corroborating established associations between TIMP3::ALK fusions and head/neck mucosal sites. With follow-up periods of 4–30 months post complete resection, all patients remained disease-free. These findings expand the recognized morphologic spectrum of cutaneous and superficial mucosal ALK-rearranged IMTs while underscoring the indispensable role of integrated histopathologic and molecular pathologic evaluation in differentiating these neoplasms from their histologic mimics, such as inflammatory rhabdomyoblastic tumor, non-neural granular cell tumor, and epithelioid fibrous histiocytoma/superficial ALK-rearranged myxoid spindle cell neoplasm.
{"title":"Inflammatory myofibroblastic tumors of the skin and mucosal sites: A clinicopathological and molecular analysis of 3 cases with emphasis on differential diagnosis","authors":"Danting Xiong , Xiaona Yin , Yongli Gan , Wenjuan Gan , Xiao Cheng , Ming Zhao","doi":"10.1016/j.anndiagpath.2025.152569","DOIUrl":"10.1016/j.anndiagpath.2025.152569","url":null,"abstract":"<div><div>This study presents three molecularly confirmed cases of <em>ALK</em>-rearranged inflammatory myofibroblastic tumors (IMTs) occurring in superficial locations, demonstrating their rarity, clinicopathologic heterogeneity and diagnostic complexity. The series comprised tumors involving oropharyngeal mucosa, dermal/subcutaneous tissue of the forearm, and tongue mucosa. Histopathological evaluation revealed characteristic proliferations of spindle-to-ovoid cells arranged in fascicular patterns within variably collagenous to myxoid stroma, accompanied by chronic inflammatory infiltrates. Notable morphologic variations included: (1) rhabdomyoblastic differentiation evidenced by rhabdoid morphology and desmin, MyoD1 and myogenin co-expression in one case, histologically overlapping with inflammatory rhabdomyoblastic tumor; and (2) histiocytoid morphology featuring microvesicular cytoplasm in another case, resembling non-neural granular cell tumor. All cases exhibited strong diffuse cytoplasmic ALK immunoreactivity. Molecular profiling identified <em>DCTN1</em>(exon26)::<em>ALK</em>(exon20) fusions in two cases and <em>TIMP3</em>(exon1)::<em>ALK</em>(exon19) fusion in the lingual lesion, the latter corroborating established associations between <em>TIMP3</em>::<em>ALK</em> fusions and head/neck mucosal sites. With follow-up periods of 4–30 months post complete resection, all patients remained disease-free. These findings expand the recognized morphologic spectrum of cutaneous and superficial mucosal <em>ALK</em>-rearranged IMTs while underscoring the indispensable role of integrated histopathologic and molecular pathologic evaluation in differentiating these neoplasms from their histologic mimics, such as inflammatory rhabdomyoblastic tumor, non-neural granular cell tumor, and epithelioid fibrous histiocytoma/superficial <em>ALK</em>-rearranged myxoid spindle cell neoplasm.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152569"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245818","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}
Pub Date : 2026-02-01Epub Date: 2025-09-04DOI: 10.1016/j.anndiagpath.2025.152560
Yutong Fu, Shixuan Du, Saisai Nie, Qiqi Shao, Wenli Guo, Yuehong Li , Lei Lou
High-grade gastroenteropancreatic neuroendocrine neoplasms (NENs) are a heterogeneous group of rare tumors, classified into well-differentiated neuroendocrine tumors grade 3 (G3 NETs) and poorly differentiated neuroendocrine carcinomas (NECs). Distinguishing G3 NETs from NECs is challenging. We aimed to summarize the clinicopathologic characteristics of G3 NETs; examine the expression of somatostatin receptor 2A (SSTR2A), clusterin, and ATRX in G3 NETs and NECs; and explore the diagnostic and prognostic value of combining these markers for the differential diagnosis of G3 NETs. Data on 87 patients with high-grade NENs (G3 NETs: 18, NECs: 69) were retrospectively collected and classified according to the 5th edition of the WHO Classification of Digestive System Tumors. Immunohistochemistry was performed for SSTR2A, ATRX, and clusterin. Relationships between protein expression and clinicopathological features were analyzed. The diagnostic significance of combining these markers was assessed using receiver operating characteristic curves. SSTR2A protein expression, loss of ATRX expression, and positivity rate for clusterin were significantly higher in G3 NETs than in NECs [77.8 % (14/18) vs. 42.0 % (29/69), 61.1 % (11/18) vs. 33.3 % (23/69), and 77.8 % (14/18) vs. 30.4 % (21/69), respectively]. ATRX expression loss was significantly more common in large-cell than small-cell NECs. In differentiating G3 NETs from NECs, the area under the curve of the combined diagnosis using SSTR2A, clusterin, and ATRX was significantly higher than the individual values (0.833 vs. 0.679, 0.737, and 0.639, respectively). Combining SSTR2A, clusterin, and ATRX improves diagnostic accuracy. Our immunohistochemical assessment provides diagnostic insights for distinguishing G3 NETs from NECs.
{"title":"Diagnostic value of SSTR2A, ATRX, and clusterin immunohistochemical expression in high-grade gastroenteropancreatic neuroendocrine neoplasms","authors":"Yutong Fu, Shixuan Du, Saisai Nie, Qiqi Shao, Wenli Guo, Yuehong Li , Lei Lou","doi":"10.1016/j.anndiagpath.2025.152560","DOIUrl":"10.1016/j.anndiagpath.2025.152560","url":null,"abstract":"<div><div>High-grade gastroenteropancreatic neuroendocrine neoplasms (NENs) are a heterogeneous group of rare tumors, classified into well-differentiated neuroendocrine tumors grade 3 (G3 NETs) and poorly differentiated neuroendocrine carcinomas (NECs). Distinguishing G3 NETs from NECs is challenging. We aimed to summarize the clinicopathologic characteristics of G3 NETs; examine the expression of somatostatin receptor 2A (SSTR2A), clusterin, and ATRX in G3 NETs and NECs; and explore the diagnostic and prognostic value of combining these markers for the differential diagnosis of G3 NETs. Data on 87 patients with high-grade NENs (G3 NETs: 18, NECs: 69) were retrospectively collected and classified according to the 5th edition of the WHO Classification of Digestive System Tumors. Immunohistochemistry was performed for SSTR2A, ATRX, and clusterin. Relationships between protein expression and clinicopathological features were analyzed. The diagnostic significance of combining these markers was assessed using receiver operating characteristic curves. SSTR2A protein expression, loss of ATRX expression, and positivity rate for clusterin were significantly higher in G3 NETs than in NECs [77.8 % (14/18) vs. 42.0 % (29/69), 61.1 % (11/18) vs. 33.3 % (23/69), and 77.8 % (14/18) vs. 30.4 % (21/69), respectively]. ATRX expression loss was significantly more common in large-cell than small-cell NECs. In differentiating G3 NETs from NECs, the area under the curve of the combined diagnosis using SSTR2A, clusterin, and ATRX was significantly higher than the individual values (0.833 vs. 0.679, 0.737, and 0.639, respectively). Combining SSTR2A, clusterin, and ATRX improves diagnostic accuracy. Our immunohistochemical assessment provides diagnostic insights for distinguishing G3 NETs from NECs.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"80 ","pages":"Article 152560"},"PeriodicalIF":1.4,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145026307","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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