Journal of Clinical Pathology最新文献

{"title":"Assessing venous invasion in stage II colon cancer: optimal elastin stains and survival analysis.","authors":"Soo Hyun Lee, Omer Yilmaz, Nandan Padmanabha, Vikram Deshpande, Osman Yilmaz","doi":"10.1136/jcp-2024-209550","DOIUrl":"10.1136/jcp-2024-209550","url":null,"abstract":"<p><strong>Aims: </strong>Venous invasion (VI) in colorectal carcinoma influences treatment strategies, especially in early stages. Despite elastin staining effectiveness in detecting VI, guidelines for its routine application, including the optimal number of slides for staining, are limited.</p><p><strong>Methods: </strong>Elastin staining was performed for VI assessment in patients with colorectal adenocarcinoma. Patients were categorised into two groups: single elastin stain group (SEG, n=248) and multiple elastin stain group (MEG, n=204).</p><p><strong>Results: </strong>The average number of elastin-stained blocks was 2±1.7, increasing to 3.3±1.9 in MEG. VI detection was significantly higher in patients in MEG (50.5%) compared with SEG (37.0%) (p=0.004). VI detection rate was higher in MEG (63.7%) than in SEG (46.0%) among patients with stage III-IV disease (p=0.011), but did not significantly differ among patients with stage I-II disease. Staining two blocks improved VI detection without additional gains from more stains. Compared with elastin performed on a single block, VI detected by elastin stain on two or more blocks did not significantly impact progression-free or disease-free survival with stage II patients.</p><p><strong>Conclusions: </strong>Employing two elastin stains on separate blocks significantly enhances VI detection in colorectal carcinoma without additional benefits from more extensive staining. This study suggests that while increasing sensitivity for VI detection, staining beyond two blocks may not benefit prognostication and could be counterproductive, warranting further research. We emphasise the need for strategic use of the elastin stain and cautious interpretation of the increased detection sensitivity of multiple elastin stains.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"527-534"},"PeriodicalIF":2.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141288172","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}

{"title":"Assessing IgG4-related ophthalmic disease and its mimics: a comparison of ACR/EULAR, organ-specific and revised comprehensive diagnostic criteria.","authors":"Neha Bakshi, Aditi Aggarwal, Shashi Dhawan, A K Grover, Lalit Duggal, Sonia Badwal, Seema Rao","doi":"10.1136/jcp-2024-209552","DOIUrl":"10.1136/jcp-2024-209552","url":null,"abstract":"<p><strong>Aims: </strong>Diagnosis of IgG4-related ophthalmic disease (IgG4-ROD) rests on the correlation of clinical features, serological testing and histopathology, using internationally accepted diagnostic criteria for objective interpretation; however, several mimickers of IgG4-RD overlap in clinical presentation and histopathology. We assess histopathological features in a series of presumptive IgG4-ROD cases, with emphasis on histopathological mimics and comparison of three IgG4-ROD diagnostic/classification criteria (organ-specific (OS), revised comprehensive diagnostic (RCD) and American College of Rheumatology/European Alliance of Associations for Rheumatology (ACR/EULAR) criteria).</p><p><strong>Methods: </strong>The histopathology database was screened for cases with clinical/histopathological suspicion of IgG4-ROD. Slides were reviewed, OS, RCD and ACR/EULAR criteria were applied, and the final clinicopathological diagnosis was recorded.</p><p><strong>Results: </strong>37 patients (24 females, 13 males; 19-73 years) were diagnosed as either IgG4-ROD (n=18) or non-IgG4-related disease (n=19). Non-IgG4-related disease group showed elevated serum IgG4 (55.5%), fibrosis (100%), dense lymphoplasmacytic inflammation (92.8%), with an increase in tissue IgG4+plasma cells (57.1%) and elevated IgG4:IgG+plasma cell ratio (14.3%). ACR/EULAR missed 50% (9/18, sensitivity-52.8%) of true IgG4-ROD cases, while OS and RCD criteria missed 11.1% (2/18, sensitivity-88.9%) of IgG-ROD cases. ACR/EULAR criteria mislabelled 7.14% (1/14, specificity-90.9%) while OS and RCD criteria wrongly categorised 71.4% (10/14, specificity-47.4%) and 50% (7/14, specificity-63.2%) specific non-IgG4-ROD cases as IgG4-ROD. Storiform fibrosis, obliterative phlebitis, increased IgG4:IgG+plasma cell ratio and elevated serum IgG were statistically significant in distinguishing IgG4-ROD from its mimics.</p><p><strong>Conclusion: </strong>ACR/EULAR criteria showed high specificity but were cumbersome and sensitivity was low, while RCD and OS criteria showed low specificity. Stringent clinicopathological correlation to exclude mimics is critical in avoiding diagnostic errors in IgG4-ROD.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"554-561"},"PeriodicalIF":2.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004375","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}

{"title":"'Sneaky' uninflamed oesophageal candidiasis: morphological clues and comparison with candidiasis associated with inflammation.","authors":"Yasamin Mirzabeigi, Turky Alkhatery, Amr Abulaban, Felipe Ruiz Casas, Elizabeth Anne Montgomery","doi":"10.1136/jcp-2024-209908","DOIUrl":"10.1136/jcp-2024-209908","url":null,"abstract":"<p><strong>Aims: </strong><i>Candida</i> esophagitis is usually readily identified on routine H&E-stained sections as the infection typically presents with prominent acute inflammation as a clue to search for organisms. However, in some cases, inflammation is absent, and detection of organisms relies on the observation of zones exhibiting parakeratosis with a delicate 'flaky' appearance. Our study aimed to establish a correlation between the histomorphology of oesophageal candidiasis and an associated clinical profile.</p><p><strong>Methods: </strong>We reviewed 53 sequential biopsy specimens from patients with <i>Candida</i> esophagitis collected over 1 year. Biopsies were assessed for acute inflammation, intraepithelial lymphocytosis and lymphoid aggregates. Patients' medical records were reviewed for data on age, gender, race, immune status, smoking, corticosteroid use, HIV status and organ transplantation history. Correlations between these factors and histomorphological patterns were assessed using test.</p><p><strong>Results: </strong>Of the 53 biopsies, 20 lacked acute inflammation and 33 had it. 15 biopsies showed both acute and lymphoid inflammation and 5 showed lymphocytosis only. Among 16 smokers, 6 (37%) had acute inflammation and 10 (63%) had parakeratosis. In non-smokers, 24 (71%) had acute inflammation and 10 (29%) had parakeratosis. A significant correlation was found between smoking and absence of acute neutrophilic infiltration (p=0.025), but no other clinical factor was associated with inflammatory patterns.</p><p><strong>Conclusions: </strong><i>Candida</i> esophagitis can be uninflamed with 'flaky' parakeratosis or associated with acute inflammation or lymphocytosis with or without neutrophilic infiltration. Inflammation was often absent in smokers, suggesting synergistic local immunosuppressive effect is this overall immunosuppressed population.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"535-539"},"PeriodicalIF":2.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970927","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}

{"title":"Preoperative liquid biopsy for <i>EGFR</i>-mutated detection at diagnostic in early-stage non-small cell lung cancer: real-world experience of a single centre.","authors":"Christophe Bontoux, Jonathan Benzaquen, Valérie Taly, Aurélia Baurès, Maryline Allegra, Caroline Lacoux, Virginie Tanga, Guylène Rignol, Jean-Philippe Berthet, Charles-Hugo Marquette, Virginie Lespinet-Fabre, Olivier Bordone, Samantha Goffinet, Marius Ilie, Veronique Hofman, Paul Hofman","doi":"10.1136/jcp-2024-209941","DOIUrl":"10.1136/jcp-2024-209941","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"578-580"},"PeriodicalIF":2.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656929","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}

{"title":"Prognostic value of PRAME expression in uveal melanoma: a meta-analysis.","authors":"Manuel Perez-Perez, Carmen García de Sola-Llamas, Gonzalo Mariscal, Laura Macías-García","doi":"10.1136/jcp-2024-210032","DOIUrl":"10.1136/jcp-2024-210032","url":null,"abstract":"<p><strong>Introduction: </strong>Overexpression of Preferentially Expressed Melanoma Antigen (PRAME) is associated with melanoma progression. In the case of uveal melanoma (UM), PRAME expression was identified as conferring a metastatic risk.</p><p><strong>Aim: </strong>This study aimed to review the available evidence regarding the prognostic value of PRAME expression in UM.</p><p><strong>Methods: </strong>This study adhered to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We included cohort studies and randomised clinical trials. The methodological quality of the studies was assessed by the Methodological Index for Non-Randomised Studies (MINORS). The meta-analysis was performed using Review Manager V.5.4. Heterogeneity was checked with the I2 test. If there was no heterogeneity, a fixed-effects model was adopted.</p><p><strong>Results: </strong>Nine studies were included. The PRAME+ group showed significant differences in the development of metastases OR (M-H, Fixed, 95% CI): 3.46 (2.84, 4.22). The PRAME+ group had a significantly shorter time to metastasis MD (IV, Random, 95% CI): -28.31 (-55.41, -1.22) and a significantly lower percentage metastasis-free survival at 5-year follow-up MD (IV, Fixed, 95% CI): -21.67 (-25.74,-17.61). PRAME expression was an independent marker for the development of metastatic disease at any follow-up HR (IV, Fixed, 95% CI): 2.00 (1.60, 2.49). In addition, PRAME+tumours were significantly larger than PRAME-tumours MD (IV, Random, 95% CI): 0.22 (0.01, 0.42).</p><p><strong>Conclusions: </strong>PRAME is a good prognostic marker in UM. We believe that further studies are needed to determine the most cost-effective method for reporting PRAME overexpression.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"519-526"},"PeriodicalIF":2.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143982263","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}

{"title":"Clinicopathological characteristics of light chain proximal tubulopathy: a multicentre case series.","authors":"Yao Lin, Guolan Xing, Ruimin Hu, Shaojun Liu, Guisen Li, Ping Zhang, Feng Xu, Dandan Liang, Xiaodong Zhu, Mingchao Zhang, Fan Yang, Xinchen Yao, Feng Liu, Yujie Wang, Shihui Dong, Shaoshan Liang, Caihong Zeng","doi":"10.1136/jcp-2024-209620","DOIUrl":"10.1136/jcp-2024-209620","url":null,"abstract":"<p><strong>Aims: </strong>Light chain proximal tubulopathy (LCPT) is a rare complication of paraprotein-related diseases. We report a case series to present the clinicopathological characteristics and outcomes of LCPT.</p><p><strong>Methods: </strong>A multicentre retrospective case series of 47 patients with LCPT, consisting of 36 crystalline, three non-crystalline, and eight mixed LCPTs, was studied between January 2007 and December 2023.</p><p><strong>Results: </strong>The median age at diagnosis was 57 years. Presentations included proteinuria (100%), renal insufficiency (62%) and Fanconi syndrome (68%). The underlying haematological diagnoses were monoclonal gammopathy of renal significance in 81% and multiple myeloma in 19%. Monoclonal light chain (LC) was detected in all cases using serum/urine-free LC assays or immunofixation electrophoresis. Among 36 crystalline LCPTs, 34 were κ-restricted and 2 λ-restricted. Three non-crystalline LCPTs were all λ-restricted. In mixed LCPTs, seven were κ-restricted and one was λ-restricted. Notably, 66% frozen-section immunofluorescence failed to reveal restricted LC, requiring paraffin-immunofluorescence or immunoelectron microscopy. The appearance of inclusions displayed intraindividual homogeneity but interindividual heterogeneity in 42 patients and notable intraindividual heterogeneity in the remaining 5 patients. Haematological complete response, very good partial response and partial response occurred in 61%. Kidney function improved or remained stable in 84%, worsened in 8% and progressed to end-stage renal disease in 8%.</p><p><strong>Conclusions: </strong>Proteinuria and kidney dysfunction are the most common but less-specific renal manifestations of LCPTs, with most featuring Fanconi syndrome. Crystalline LCPT, primarily associated with κ-LC, is the predominant form. Most inclusions displayed intraindividual homogeneity and interindividual heterogeneity by electron microscopy. Most achieved haematological responses and favourable renal outcomes.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"562-568"},"PeriodicalIF":2.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818184","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}

{"title":"Fifth edition WHO classification: precursor lymphoid neoplasms, acute leukaemias of mixed or ambiguous lineage, myeloid/lymphoid neoplasms, and histiocytic and dendritic cell neoplasms, including strategies for application in resource-limited settings.","authors":"Prashant Tembhare, Xueyan Chen, John K C Chan, Brent Wood, Kikkeri N Naresh","doi":"10.1136/jcp-2025-210135","DOIUrl":"10.1136/jcp-2025-210135","url":null,"abstract":"<p><p>The fifth edition of the WHO classification of haematolymphoid tumours (WHO-HEM5) introduces significant updates to the classification of acute lymphoblastic leukaemia, ALAL (including mixed phenotype acute leukaemia (MPAL)), myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK), and histiocytic and dendritic cell neoplasms, reflecting the advances in the understanding of the genetic basis of these diseases. This review provides an overview of these changes, highlighting a shift to a more refined molecular-genetic approach. The incorporation of newly recognised genetic subtypes into the classification scheme underscores the evolving landscape of these entities. Challenges in diagnosing ALAL/MPAL and MLN-TK are discussed, along with recent insights into histiocytic and dendritic cell neoplasms, including newly defined entities such as ALK-positive histiocytosis.The review also explores the practical implications of WHO-HEM5, particularly in resource-limited settings, where comprehensive molecular testing may be unavailable. While morphology and immunohistochemistry remain essential diagnostic tools, strategic use of flow cytometry and targeted fluorescence in situ hybridisation can facilitate risk-adapted classification and improve survival in regions with limited resources and therapeutic options. Future large-scale studies are necessary to establish the diagnostic and prognostic value of these newly genetically defined entities for diverse healthcare environments, and to standardise guidelines in refining disease classification and optimising patient outcomes.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"505-518"},"PeriodicalIF":2.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143994495","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}

{"title":"REV7 subunit of mutagenic DNA polymerase ζ as a predictive biomarker for the efficacy of immune checkpoint inhibitor therapy in melanoma.","authors":"Akiyoshi Hoshino, Koya Obara, Masaaki Ichinoe, Takuya Kato, Yasutaka Sakurai, Ai Ushiwata, Atsuko Umezawa, Yoshiko Numata, Masatoshi Ichihara, Yasuyuki Amoh, Yoshiki Murakumo","doi":"10.1136/jcp-2025-210213","DOIUrl":"10.1136/jcp-2025-210213","url":null,"abstract":"<p><p>Immune checkpoint inhibitor (ICI) therapy serves as a standard treatment for advanced or recurrent malignant melanoma. Tumour neoantigenicity is an important factor for the effectiveness of the ICI therapy. However, the absence of reliable biomarkers to predict ICI therapy efficacy remains an unresolved challenge. REV7 is a subunit of mutagenic DNA polymerase ζ and plays a role in generating genetic alterations following DNA damage. In this study, we examined REV7 as a potential predictive biomarker for ICI therapy in melanoma. Using RNA in situ hybridisation, we assessed REV7 expression in melanomas from 42 patients who received ICI therapy. Our analysis revealed that high REV7 expression correlated significantly with improved progression-free survival, durable clinical benefit and favourable clinical outcomes according to response evaluation criteria in solid tumours. These findings suggest that REV7 may be a potential predictive biomarker for ICI therapy response in melanoma.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"573-577"},"PeriodicalIF":2.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225604","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}

{"title":"Impact of NOTCH1 expression in primary breast adenoid cystic carcinoma.","authors":"Alireza Salem, Yun Wu, Qingqing Ding, Lavinia P Middleton","doi":"10.1136/jcp-2023-209325","DOIUrl":"10.1136/jcp-2023-209325","url":null,"abstract":"<p><strong>Aims: </strong>Adenoid cystic carcinoma (AdCC) originates from salivary-type like glands in the head and neck, lung, and breast. AdCC shows chromosomal translocation, resulting in <i>MYB::NFIB</i> fusion and overexpression of MYB. Recently, NOTCH1 pathway alteration has been recognised in a subset of patients with salivary gland AdCC and has been shown to be associated with poor survival. In this study, we investigated the correlation of NOTCH1 pathway alteration with the clinical outcome of patients with primary breast AdCC by examining NOTCH1 immunoreactivity in attempts to better predict clinical outcomes.</p><p><strong>Methods: </strong>We identified 25 cases of breast AdCC, reviewed the clinical outcome and performed immunohistochemical (IHC) staining for NOTCH1 on FFPE sections.</p><p><strong>Results: </strong>IHC evaluation of NOTCH1 expression in 25 cases of primary breast AdCCs revealed a positive correlation between NOTCH1 expression and primary tumour size. All cases with NOTCH1 expression were greater than 15 mm in size at presentation but only 50% of NOTCH1 negative tumours were greater than 15 mm. We demonstrated a positive correlation between NOTCH1 positive AdCCs and recurrence/metastases. 63.6% of NOTCH1 positive AdCCs had either metastases or recurrence. On the contrary, only 21.5% of NOTCH1 negative AdCCs had recurrence or metastases. AdCCs with NOTCH1 positivity correlated with inferior relapse free survival (median 33 vs 129 months).</p><p><strong>Conclusions: </strong>Our study demonstrates that in patients with breast AdCC, overexpression of NOTCH1 ≥20% is associated with larger tumour size and aggressive clinical outcomes. Importantly, NOTCH1 inhibitors may have potential therapeutic effect in patients with breast AdCC.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"548-553"},"PeriodicalIF":2.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140110408","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}

{"title":"Response to anti-HER2 neoadjuvant chemotherapy in HER2-positive invasive breast cancers with different HER2 FISH patterns.","authors":"Hong Lv, Qian-Ming Bai, Ming Li, Meng-Yuan Cai, Shu-Ling Zhou, Yin Liu, Zhong-Hua Wang, Ruo-Hong Shui, Hong-Fen Lu, Xiao-Li Xu, Bao-Hua Yu, Xiao-Yu Tu, Rui Bi, Yu-Fan Cheng, Xiao-Yan Zhou, Zhi-Min Shao, Wen-Tao Yang","doi":"10.1136/jcp-2023-209069","DOIUrl":"10.1136/jcp-2023-209069","url":null,"abstract":"<p><strong>Aims: </strong>Human epidermal growth factor receptor 2 (HER2)-positive patients with breast cancer may have different HER2/CEP17 ratios and HER2 copy numbers, with inconsistent responses to anti-HER2 neoadjuvant chemotherapy (NACT). Our study aimed to explore the relationship between different HER2 fluorescence in situ hybridisation (FISH) patterns in HER2-positive patients with breast cancer and responses to anti-HER2 NACT.</p><p><strong>Methods: </strong>527 patients with HER2-positive invasive breast cancer who received anti-HER2 NACT from 2015 to 2022 were included and divided into three groups by FISH results, namely group A: HER2/CEP17<2.0 and HER2 copy numbers ≥6.0, HER2 immunohistochemistry 2/3+; group B: HER2/CEP17≥2.0 and HER2 copy numbers ≥4.0 and <6.0; group C: HER2/CEP17≥2.0 and HER2 copy numbers ≥6.0. We compared clinicopathological characteristics and pathological complete response (pCR) rates of different groups.</p><p><strong>Results: </strong>According to HER2 FISH results, 12 patients (2.3%, 12/527) were in group A, 40 (7.6%, 40/527) were in group B and 475 (90.1%, 475/527) were in group C. The pCR rate was the lowest in group B (5.0%), while the pCR rates in group A and group C were 33.3% and 44.4%, respectively (p _{(group A vs. B)} =0.021, p _{(group C vs. B)} < 0.001). Both univariate and multivariate analyses revealed that HER2 FISH pattern was correlated with pCR rate (p _{(group C vs. B)} < 0.001, p _{(group C vs. B)} = 0.025).</p><p><strong>Conclusions: </strong>Patients with HER2/CEP17≥2.0 and HER2 copy numbers ≥4.0 and <6.0 do not benefit to the same extent from current anti-HER2 therapies as FISH-positive patients with other patterns.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"540-547"},"PeriodicalIF":2.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}