Xiaolin Cheng, Shuyue Chen, Xushui Jiang, Tao Li, Hong Zhang, Fengbo Huang, Tianhui Bao
{"title":"Gastric SMARCA4-deficient undifferentiated tumors: clinicopathological analysis of two cases in a single center.","authors":"Xiaolin Cheng, Shuyue Chen, Xushui Jiang, Tao Li, Hong Zhang, Fengbo Huang, Tianhui Bao","doi":"10.1186/s13000-025-01651-0","DOIUrl":"10.1186/s13000-025-01651-0","url":null,"abstract":"<p><strong>Objectives: </strong>Gastric SMARCA4-deficient undifferentiated tumors are rare and have a poor prognosis. We analyzed two cases of gastric SMARCA4-deficient undifferentiated tumors with clinicopathologic characteristics, treatment and flow-up.</p><p><strong>Methods: </strong>Immunohistochemistry was used to evaluate the expression of BRG1 (SAMRCA4), SMARCB1 (INI-1), CKpan, Ki-67, CD3, CD20, CD163, PD-1, and PD-L1 in gastric SMARCA4-deficient undifferentiated tumors. Additionally, the clinical characteristics, imaging features, diagnosis, and treatment were analyzed.</p><p><strong>Results: </strong>Two elderly male patients (69 and 61 years old) with a large ulcerated mass located in the gastric fundus and cardia. Histologically, the tumor is of low adhesion, diffusely infiltrating lamellar growth, without any percentage of epithelial differentiation zones, and with little stromal component. Tumor cells round, oval, a small amount of irregular shape, easy to see mitotic figures. Some of them had obvious nucleoli, and a few had multiple nucleoli. The cytoplasm varies, and some cells are more abundant. Significant vascular and neural invasion. BRG1(SMARCA4) was absent, INI-1 was present, and Ki-67 proliferation index was highly expressed (≥ 80%). The remaining sarcoma-specific markers were negative. In case 1, the epithelial markers were negative and the PD-L1 combined positive score was 5. In case 2, CKpan was weakly expressed in only a dozen cells, and the PDL1 CPS was 10. The two patients received chemotherapy and anti-PD1 immunotherapy after radical gastrectomy for gastric cancer. The postoperative follow-up time of the two patients was 16 (case 1) and 3 months (case 2), respectively. The general condition was good, no recurrence or metastasis was observed, and the plasma tumor markers were in the normal range.</p><p><strong>Conclusions: </strong>Large SMARCA4-deficient tumors are more likely to have massive necrosis on the surface, leading to negative biopsy results. This tumor has a diffuse lamellar growth and needs to be differentiated from a variety of tumors with similar morphology, such as lymphoma, malignant melanoma, neuroendocrine carcinoma and undifferentiated sarcoma. The tumor cells were negative or only slightly positive for CKpan increases the difficulty of pathological diagnosis of this disease. However, loss of BRG1 (SMARCA4) expression can confirm the diagnosis. Chemotherapy combined with anti-PD1 treatment may have potential benefits in the management of gastric SMARCA4-deficient undifferentiated tumors. However, given the rarity of these tumors and the limited number of cases in our study, further research with larger cohorts is needed to validate these preliminary results.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"51"},"PeriodicalIF":2.4,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143956645","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}
Patrícia Fontão, Gustavo Ramos Teixeira, Daniel Antunes Moreno, Rui Ferreira Marques, João Norberto Stavale, Suzana Maria Fleury Malheiros, Carlos Almeida Júnior, Bruna Minniti Mançano, Rui Manuel Reis
{"title":"High B7-H3 protein expression in Medulloblastoma is associated with metastasis and unfavorable patient outcomes.","authors":"Patrícia Fontão, Gustavo Ramos Teixeira, Daniel Antunes Moreno, Rui Ferreira Marques, João Norberto Stavale, Suzana Maria Fleury Malheiros, Carlos Almeida Júnior, Bruna Minniti Mançano, Rui Manuel Reis","doi":"10.1186/s13000-025-01645-y","DOIUrl":"https://doi.org/10.1186/s13000-025-01645-y","url":null,"abstract":"<p><strong>Background: </strong>Medulloblastoma (MB) is the most common malignant brain tumor in children. Although the 5-year survival rate is approximately 70-80%, the current standard treatment results in severe and long-term side effects. The search for new anticancer immunotherapeutic targets has identified B7-H3 as a promising candidate in various solid tumors. However, the role of B7-H3 in MB remains unclear, and studies reporting its protein expression and association with clinicopathological characteristics are still limited.</p><p><strong>Methods: </strong>In this study, B7-H3 protein expression was evaluated by immunohistochemistry in seven non-tumor samples and 43 molecularly characterized MB tissues. Its expression profile was correlated with B7-H3 (CD276) mRNA levels, which were previously determined by nCounter, as well as with the patients' clinical features.</p><p><strong>Results: </strong>Only 14.3% (1/7) of non-tumor brain and cerebellum tissues showed B7-H3 positivity, whereas 95.6% (41/43) of the MB samples expressed this protein at distinct levels. B7-H3 was found in the cytoplasm and on the membrane of cancer cells. A significant positive correlation was observed between CD276 mRNA and B7-H3 protein levels. Moreover, high expression of B7-H3 protein was associated with worse overall survival and the presence of metastasis at diagnosis.</p><p><strong>Conclusions: </strong>This is the first study to associate CD276 mRNA and B7-H3 protein levels in MB, revealing a significant positive correlation. We observed that B7-H3 was overexpressed in MB compared to non-tumor brain tissue. High B7-H3 expression was associated with a worse outcome and with the presence of metastasis at diagnosis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"49"},"PeriodicalIF":2.4,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990768","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":"At the crossroad between Ewing sarcoma and neuroblastoma: a report of two cases of Ewing sarcoma with post treatment neuroblastoma-like differentiation.","authors":"Giorgia Arcovito, Giacomo Aringhieri, Virna Zampa, Luca Coccoli, Lorenzo Andreani, Alessandro Franchi","doi":"10.1186/s13000-025-01649-8","DOIUrl":"https://doi.org/10.1186/s13000-025-01649-8","url":null,"abstract":"<p><strong>Background: </strong>Ewing sarcoma (ES) is the second most frequent sarcoma of bone, often affecting young patients and pursuing an aggressive clinical course. Among therapeutic choices, radio- and chemotherapy are employed in neoadjuvant setting, and they yield variable histological changes in neoplastic tissue, which mainly include necrosis and fibrosis. Cytodifferentiation is seldom observed in pediatric tumors such as nephroblastoma and rhabdomyosarcoma following treatment. Nevertheless, it represents an extremely rare phenomenon in ES.</p><p><strong>Case presentation: </strong>In this study we present the clinico-pathologic and molecular features of two cases of ES undergoing neuroblastoma-like differentiation after treatment. Both tumors were primarily located in bone and presented the histologic and immunohistochemical features of classic ES in needle biopsies. They were treated with standard chemotherapy protocols followed by surgical resection. The resection specimens of the primary tumor of patient 1 and pleural metastases of patient 2 presented foci of eosinophilic fibrillary stroma resembling neuropil and containing cellular elements with wide granular eosinophilic cytoplasm, eccentric nuclei containing vesicular chromatin and prominent nucleoli, reminiscent of ganglion cells. These cells were positive for chromogranin, synaptophysin and CD56, while CD99 was negative. Molecular confirmation of EWSR1 rearrangement was provided in both cases by next generation sequencing and FISH analysis.</p><p><strong>Conclusions: </strong>Evidence of neural differentiation in ES unravels interesting hints about its controversial histogenesis. Furthermore, awareness of this event must be increased to avoid misdiagnosis with neuroblastoma, which shows significant morphological overlap.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"50"},"PeriodicalIF":2.4,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062792","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":"Exploration of risk factors for the occurrence and recurrence of papillary thyroid carcinoma with Hashimoto's thyroiditis based on next-generation sequencing.","authors":"Wanxue Zhang, Bin Liu","doi":"10.1186/s13000-025-01639-w","DOIUrl":"https://doi.org/10.1186/s13000-025-01639-w","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the risk factors for the occurrence and recurrence of Hashimoto's thyroiditis (HT) combined with papillary thyroid carcinoma (PTC) using Next-Generation Sequencing (NGS).</p><p><strong>Methods: </strong>A total of 249 patients who underwent thyroid cancer surgery at the First Affiliated Hospital of Anhui Medical University from October 2020 to December 2020 were included in this study. They were divided into two groups: HT and non-HT (NHT) groups based on whether they were diagnosed with HT or not. Clinical data, NGS results, and 4-year follow-up recurrence were collected and analyzed using binary logistic regression and COX regression analysis to identify factors influencing the occurrence and recurrence of PTC with HT.</p><p><strong>Results: </strong>Patients in the HT group had a higher percentage of low age, multifocality, high TgAb, and RET rearrangement compared to the NHT group. However, they had a lower rate of extrathyroidal extension (ETE), lymph node metastasis (LNM), and BRAF mutation (P < 0.05). Among patients with RET rearrangement in the HT group, there was a higher rate of LNM and recurrence (P < 0.05). Patients with BRAF mutation in the HT group were more likely to be male and have multifocal tumors (P < 0.05). Binary logistic regression analysis showed that multifocality, RET rearrangement, low age, and lymph node negativity were risk factors for HT combined with PTC. Univariate COX analysis revealed that multifocality, LNM, ETE, recurrence risk stratification, TSH, RET rearrangement, and the interaction between RET rearrangement and Hashimoto's effect were risk factors for recurrence after PTC. Multifactorial COX regression analysis showed that ETE and recurrence risk stratification were risk factors for recurrence after PTC surgery.</p><p><strong>Conclusions: </strong>Multifocality, high TgAb, low age, and lymph node negativity can assist in the preoperative diagnosis of HT combined with PTC. BRAF mutations are less common in HT combined with PTC but do not significantly affect recurrence. Patients with RET rearrangement in addition to HT have a higher risk of recurrence, and special attention should be paid to intraoperative clearance in these patients.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"48"},"PeriodicalIF":2.4,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990504","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":"Family adenomatous polyposis come across dome type adenocarcinoma: a case report and literature review.","authors":"Ying-Ying Chang, Xiao-Long Zhang, Yao-Hui Wang, Ting-Sheng Ling","doi":"10.1186/s13000-025-01633-2","DOIUrl":"https://doi.org/10.1186/s13000-025-01633-2","url":null,"abstract":"<p><p>Dome-type carcinoma (DC), also referred as Gut-associated lymphoid tissue (GALT) carcinoma, is a rare variant of colorectal adenocarcinoma which has been seldomly reported up to now. We report a case of a DC lesion developed in a 33-year-old male diagnosed with family adenomatous polyposis (FAP). A 1.5 × 1.5 cm well-demarcated lesion exhibited a 0-Is + IIc figure was detected near the anastomotic stoma during regular colonoscopic polypectomy. Surgical specimen showed well-differentiated adenocarcinoma consisted of dilated cystic glands and the lymphoid stroma with reactive germinal centers exhibited a destructive manner of infiltration into SM2 level. The immunohistochemical findings revealed MUC1 positive but MUC2 negative of the carcinomas epithelial which retained all the 4 mismatch repair proteins (MMRs) (MLH1, PMS2, MSH2, and MSH6) and was negative for EBV-encoded small RNA-1 (EBER). Considered a rare category of colorectal adenocarcinoma, more cases will help uncover the nature of GALT/dome-type carcinoma. Clinicians and pathologists should be aware of recognizing this special type of carcinoma and making necessary differential diagnostics.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"47"},"PeriodicalIF":2.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984123","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 of phosphoglyceride crystal deposition disease in the maxilla.","authors":"Emi Saitou, Takaaki Sano, Mai Seki, Takahiro Yamaguchi, Tetsunari Oyama, Satoshi Yokoo","doi":"10.1186/s13000-025-01641-2","DOIUrl":"https://doi.org/10.1186/s13000-025-01641-2","url":null,"abstract":"<p><strong>Background: </strong>Phosphoglyceride crystal deposition disease (PCDD) is a rare disorder in which phosphoglyceride crystals accumulate in soft tissues and bones. It tends to occur years after surgery, trauma, or repeated injections.</p><p><strong>Case presentation: </strong>An 81-year-old woman was referred to our department because of swelling of the left maxillary gingiva. The left maxillary second molar had been extracted more than 10 years earlier. Surgical biopsy was performed, and histopathological findings indicated a foreign body granuloma. The patient underwent tumorectomy, during which we found a yellowish tumor. The pathologic findings were the characteristic crystal deposition, fibril-like crystals, and giant cells around the crystals. Gold hydroxamic acid staining revealed positivity for the crystals. The final pathological diagnosis was PCDD. The patient had no further symptoms and no disease recurrence.</p><p><strong>Conclusions: </strong>It is relatively easy to diagnose PCDD from the characteristic histopathological findings; however, it may be overlooked by pathologists who are unaware of the disease. T2-weighted magnetic resonance imaging of PCDD in the jawbone has depicted low intensity, a finding that differs from those of ordinary cancers and odontogenic tumors. The oral cavity often undergoes surgical procedures, and PCDD may form, and grow.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"45"},"PeriodicalIF":2.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991284","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":"The ability of anexelekto (AXL) expression and TERT promoter mutation to predict radioiodine-refractory differentiated thyroid carcinoma.","authors":"Hasrayati Agustina, Tutik Nur Ayni, Yohana Azhar, Erwin Affandi Soeriadi, Bethy Suryawathy Hernowo","doi":"10.1186/s13000-025-01643-0","DOIUrl":"https://doi.org/10.1186/s13000-025-01643-0","url":null,"abstract":"<p><strong>Background: </strong>Differentiated thyroid carcinoma (DTC) generally has a favourable prognosis with standard treatments; however, the risks of local recurrence and distant metastases remain a concern, affecting a substantial proportion of patients. Radioactive iodine (RAI) refractoriness further complicates DTC management, leading to substantially reduced survival rates. In this study, we aimed to identify anexelekto (AXL) expression and TERT promoter mutation as potential predictors of RAI-refractory DTC.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 81 DTC patients who underwent thyroidectomy and received at least two courses of RAI therapy. After a median follow-up period of 30 months (range: 6-60 months), therapy response was categorized as nonrefractory or refractory. AXL expression and TERT promoter mutation were evaluated in all patients to discern any associations with the development of RAI refractoriness.</p><p><strong>Results: </strong>The overall prevalence of refractory RAI in DTC patients was 44.4% (36/81). AXL expression was high in 30/36 patients (83.3%) with RAI-refractory DTC and negative/low in 24/45 patients (53.3%) with non-RAI-refractory DTC (OR adjusted: 44.98, CI 95%: 1.41-1439.03, p = 0.031). TERT promoter mutation occurred in 21/36 (58.3%) RAI-refractory DTCs and in 2/45 (4.4%) non-RAI-refractory DTCs (OR adjusted: 10.95, CI 95%: 1.06-112.92, p = 0.044). Despite similar age, sex, and histological type distributions between the RAI-refractory and non-RAI-refractory groups, significant differences in clinicopathological characteristics emerged. Multivariate analysis confirmed that aggressive subtype, elevated AXL expression, and TERT promoter mutation independently correlated with RAI-refractory status.</p><p><strong>Conclusions: </strong>Our predictive model highlights the association of elevated AXL expression, TERT promoter mutation, and an aggressive tumour subtype with the risk of RAI refractoriness. This information has the potential to aid in making informed treatment decisions. Furthermore, AXL is a potential therapeutic target for RAI-refractory disease.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"46"},"PeriodicalIF":2.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966089","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":"Multiple pulmonary mucinous cystadenoma with Ovarian-like stroma: a case report.","authors":"Lei Wang, Xieraili Wumener, Wenting Huang","doi":"10.1186/s13000-025-01642-1","DOIUrl":"https://doi.org/10.1186/s13000-025-01642-1","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary mucinous cystadenoma with ovarian-like stroma has rarely been reported. To the best of our knowledge, only two prior cases have been reported to date.</p><p><strong>Case presentation: </strong>A 47-year-old female underwent an <sup>18</sup>F-fluorodeoxyglucose(FDG) positron emission tomography/computed tomography(PET/CT) scan, revealig multiple solid and cystic nodules with mild FDG uptake in both lungs. The tumor exhibited an adenoid or papillary structure, covered by monolayer mucous columnar epithelium and pseudostratified ciliated columnar epithelium, with abundant mesenchymal cells. Nuclei were oval, fusiform, or polygonal, resembling ovarian-like stroma, and showed mild nuclear atypia without atypical mitoses. Immunohistochemical analysis indicated: CK (epithelial cell +), P63 (epithelial basal cells +), CK7 (epithelial cell +), CK20 (-), TTF-1 (epithelial cell +), napsin A (partial epithelial cell +), α-inhibin (-), S100 (-), SMA (-), EMA (epithelial cell +), CEA (-), WT-1 (mesenchymal cells +), ER (mesenchymal cells +), P16 (partial mesenchymal cells +), CD10 (mesenchymal cells +), and Ki-67 (2% +).</p><p><strong>Conclusion: </strong>Pulmonary mucinous cystadenoma with ovarian-like stroma is rare, and its pathological nature and classification are not yet fully understood.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"44"},"PeriodicalIF":2.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964245","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}
Jiuyan Shang, Jiaxian Miao, Shuyao Niu, Xuemei Sun, Yueping Liu
{"title":"Redefining therapeutic landscapes: clinicopathological insights into low and ultra-low HER2 expression in male breast cancer.","authors":"Jiuyan Shang, Jiaxian Miao, Shuyao Niu, Xuemei Sun, Yueping Liu","doi":"10.1186/s13000-025-01632-3","DOIUrl":"https://doi.org/10.1186/s13000-025-01632-3","url":null,"abstract":"<p><strong>Objective: </strong>With the emergence of new antibody coupled drugs, the treatment decisions of patients with low and ultra-low HER2 expression have been reshaped. However, the epidemiological characteristics of relatively rare male breast cancer are still unclear. This study discusses the clinicopathological and immunophenotypic characteristics of male invasive breast cancer with low and ultra-low HER2 expression.</p><p><strong>Methods: </strong>The clinicopathological and immunophenotypic features of 106 cases of male invasive breast cancer were retrospectively analyzed. HER2 was evaluated according to ASCO/CAP guidelines. The cutoff value of HER2 positive cell staining was > 10%. HER2 negative cases were divided into HER2 low expression (IHC = 1+/2 + and ISH without amplification) and HER2-0 (IHC-0, HER2 null and < 10% weak staining of cell membrane). The clinicopathological characteristics and prognosis of the cases were collected.</p><p><strong>Results: </strong>106 male patients with invasive breast cancer from 2015 to 2024 were included in this study, and more than 85% of male breast cancer histological types were invasive ductal carcinoma. Immunophenotype: There were 23 cases of HER2-zero (including 13 cases of HER2 ultra-low), 72 cases of HER2 low, 11 cases of HER2 positive, and the HER2 positive rate was 10.38%, and the incidence of low expression was 67.93%; The incidence of HER2 low in male breast cancer was significantly higher than that in female breast cancer, and the difference was statistically significant (P < 0.05). In terms of prognosis, there was no statistical difference between HER2 low male breast cancer and female breast cancer (P > 0.05). There was no statistical difference in survival prognosis between different HER2 status in the male breast cancer cohort.</p><p><strong>Conclusion: </strong>Male invasive breast cancer is rare, and it is more common in the elderly over 60 years old. The positive rate of ER and PR is high, and the incidence of HER2 low is high. The high HER2 low expression rate of male breast cancer can provide a new anti-HER2 treatment decision.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"43"},"PeriodicalIF":2.4,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972625","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":"Revisiting the use of CK7 and CK20 immunohistochemical stains in pathological diagnoses.","authors":"Bangchen Wang, Diana M Cardona, Jiaoti Huang","doi":"10.1186/s13000-025-01638-x","DOIUrl":"https://doi.org/10.1186/s13000-025-01638-x","url":null,"abstract":"<p><strong>Background: </strong>Cytokeratin-7 (keratin-7; CK7) and cytokeratin-20 (keratin-20; CK20) have been among the most widely used markers in pathology for prediction of tumor site of origin or classification. However, with the increased availability of newer and more specific biomarkers and molecular techniques, it is timely to revisit the utility of CK7 and CK20 stains under different clinical settings.</p><p><strong>Methods: </strong>In the current study, we retrospectively reviewed 612 surgical pathology cases at our institution where CK7 and/or CK20 stains were performed and determined to what degree they contributed to the final diagnosis.</p><p><strong>Results: </strong>In CK7-and-CK20 cases, the stains had a major contribution in 5% of the cases. In CK7-only or CK20-only cases, the percentages of major contribution were 34% and 69% respectively. However, when only cases where CK7/CK20 stains were used to determine tumor site of origin, the contributions become more comparable across all three case types, where CK7/CK20 stains had major contribution in < 10% of cases. Notably, 11% of CK7-and-CK20 cases had no specific or suggestive diagnosis, and 40% of CK7-and-CK20 cases had staining patterns inconsistent with the final diagnosis. Detailed analysis demonstrates that CK7 and CK20 stains, used singly, are most useful in the diagnosis of a limited number of pathologic entities with distinct CK7 or CK20 expression patterns.</p><p><strong>Conclusions: </strong>Our results suggest that the coordinate expression of CK7 and CK20 is generally not helpful in arriving at the final diagnosis. Reducing unnecessary immunohistochemical stains will help mitigate the rising healthcare cost and preserve tissue for molecular testing.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"40"},"PeriodicalIF":2.4,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11987302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984127","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}