Pathology & Oncology Research最新文献

{"title":"Surgical management of ulcerative colitis-associated colorectal cancer in a 20-year period, a single-centre study.","authors":"János Tajti, László Libor, Szabolcs Ábrahám, Zsolt Simonka, Anikó Maráz, Attila Paszt, Tamás Molnár, Judit Oláh, György Lázár","doi":"10.3389/pore.2026.1612362","DOIUrl":"https://doi.org/10.3389/pore.2026.1612362","url":null,"abstract":"<p><strong>Introduction: </strong>The incidence of inflammatory bowel disease is on the rise. Inflammation that persists for years or decades may involve the risk of malignant transformation. Indeed, it is the cause of death in 15% of the UC patient population. Proctocolectomy followed by ileal pouch-anal anastomosis is the accepted surgical procedure.</p><p><strong>Aim: </strong>Our study objective was to retrospectively assess the occurrence and surgical treatment of UC-associated colorectal cancer cases in our institute and analyse survival data.</p><p><strong>Materials and methods: </strong>In our department, 39 patients (12 female and 27 male patients) underwent surgery for UC-associated colorectal cancer between 1 January 2005 and 1 January 2025. Their mean age was 55 ± 13.4 years. Risk factors for the disease, examination results, types of surgery, perioperative and long-term surgical results, and survival measures were assessed retrospectively. The latter were determined using the Kaplan-Meier analysis.</p><p><strong>Results: </strong>Thirty-nine patients were diagnosed with UC at a mean age of 35.7 ± 16.7 years, and an average of 19.4 ± 12.3 years passed between the diagnosis of UC and the first surgical intervention. Regular endoscopies were performed in only 66% of our patients. Preoperative staging confirmed distant metastases in 12 patients (30.7%). Patients underwent 34 elective and 5 emergency surgeries. The mean follow-up duration was 40.2 ± 51.7 months. Only 7 patients (17.9%) had a T1 lesion. Lymph node involvement was confirmed in 17 cases (44.5%), whereas 12 patients (30.7%) showed dissemination. Adjuvant chemotherapy was administered in 23 cases (58.9%), and follow-up was recommended for 13 patients (33.3%). During the study period, 17 of the 39 patients died. The mean survival after the surgical procedure was 98.6 months (8.2 years). Survival was significantly shorter in patients who had undergone emergency surgery, were active smokers, suffered from PSC, and lacked gastroenterological follow-up.</p><p><strong>Conclusion: </strong>Based on our experience, it is especially important for UC patients to receive close gastroenterological follow-up in specialised centres and undergo regular colonoscopies and for staff to evaluate biopsy samples properly and perform the appropriate surgical procedures in due time, preferably proctocolectomy and creation of IPAA with a minimally invasive method.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612362"},"PeriodicalIF":2.3,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147841465","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}

{"title":"Case Report: Thigh anastomotic hemangioma.","authors":"Li Chen, Xia Gao, Qiang Zhang","doi":"10.3389/pore.2026.1612402","DOIUrl":"https://doi.org/10.3389/pore.2026.1612402","url":null,"abstract":"<p><p>Anastomotic hemangioma (AH) is a rare benign vascular tumor primarily occurring in the genitourinary tract; however, only two cases have been reported in the thigh. In this report, a 42-year-old female patient presented to the hospital for examination due to \"a subcutaneous mass on the lateral aspect of the left thigh discovered 9 months ago, which has been gradually enlarging.\" Subsequently, the lump was removed via local surgery. Histological examination reveals: At low magnification, the tumor was situated within the superficial subcutaneous fascia layer, presenting a loose lobular structure. Most of its margins were well - defined, while a small portion displayed expansile infiltrative changes. There were well - differentiated vascular lumens arranged in a communicating or anastomosing pattern, along with pseudopapillary structures. At high magnification, tumor cells were oval or short spindle - shaped, with vacuoles in the cytoplasm that contain red blood cells or homogeneously red - stained glassy globules. Moderate atypia was present, and mitotic activity was frequent, with hot spots averaging approximately 4/mm². PCR-<i>GNAQ</i> mutation detection result: detected a missense mutation at codon 209 in exon 5 (<i>c.627A>T, p. Q209H</i>). Follow-up revealed tumor recurrence 10 months after surgery. Given the rarity of AH occurring on skin surfaces, coupled with the high proliferative activity observed in this case and its recurrence following excision, we report the diagnostic and therapeutic process along with the clinical and pathological features of this AH case. This aims to enhance the understanding of this disease among clinicians and pathologists.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612402"},"PeriodicalIF":2.3,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13121964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147778263","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}

{"title":"Novel <i>MYH11::GLI3</i> fusion in ileal leiomyoma.","authors":"Ioannis Panagopoulos, Ingvild Lobmaier","doi":"10.3389/pore.2026.1612375","DOIUrl":"https://doi.org/10.3389/pore.2026.1612375","url":null,"abstract":"<p><strong>Background: </strong>Leiomyomas of the gastrointestinal tract (GI) are benign smooth muscle neoplasms with limited genetic characterization. Molecular investigations may improve diagnostic classification and enhance understanding of their biological behavior.</p><p><strong>Methods: </strong>RNA sequencing using multiple fusion-detection algorithms was performed on an ileal leiomyoma. Key findings were validated by RT-PCR and Sanger sequencing.</p><p><strong>Results: </strong>A <i>MYH11::GLI3</i> fusion was identified. Additional chimeric transcripts were detected but interpreted as secondary events based on limited read support. The biological relevance of <i>MYH11::GLI3</i> relates to smooth muscle specific <i>MYH11</i> expression and <i>GLI3</i>-mediated Hedgehog signaling.</p><p><strong>Conclusion: </strong>This study reports, for the first time, the identification of a MYH11::GLI3 chimera in gastrointestinal leiomyoma, thereby expanding the molecular spectrum of these tumors. Deregulation of GLI3 may represent an alternative mechanism of Hedgehog pathway perturbation in this neoplasm. The frequency and clinical significance of GLI3-rearranged gastrointestinal smooth muscle tumors remain to be determined.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612375"},"PeriodicalIF":2.3,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13111170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147778338","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}

{"title":"Correction: Diagnostic performance of intracystic carcinoembryonic antigen (CEA) versus glucose in differentiation of mucinous and non-mucinous pancreatic cysts.","authors":"György Gyimesi, Bánk Keczer, Péter Rein, Miklós Horváth, Ákos Szűcs, Tamás Marjai, Attila Szijártó, István Hritz","doi":"10.3389/pore.2026.1612408","DOIUrl":"https://doi.org/10.3389/pore.2026.1612408","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.3389/pore.2024.1611881.].</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612408"},"PeriodicalIF":2.3,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13067097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147675523","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}

{"title":"The uterine secretome initiates growth of gynecologic tissues in ectopic locations: re-evaluating the evidence.","authors":"Jan Sunde, K A Pennington","doi":"10.3389/pore.2026.1612281","DOIUrl":"10.3389/pore.2026.1612281","url":null,"abstract":"<p><p>The origin of ectopic gynecologic lesions has been debated since 1927, when Sampson first proposed retrograde menstruation as the underlying cause of endometriosis. Reproduction in mammals is an unusually permissive process, enabling the implantation of tissue genetically distinct from the mother in which leukemia inhibitory factor (LIF) is known to be a pleiotropic master transcription factor affecting multiple gene pathways such as adhesion and immune tolerance. Herein we review the <i>uterine secretome theory</i>, and how the initial step in ectopic lesion development is implantation. The uterine secretome, which typically cycles every 28-35 days to prepare the endometrium for potential embryo implantation and does so for decades, can be hijacked by free floating cells to implant ectopically when pregnancy does not occur. This review will focus on this emerging theory and its ability to reconcile longstanding gaps in our understanding of both benign and malignant ectopic lesion initiation.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612281"},"PeriodicalIF":2.3,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13008820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147513110","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}

{"title":"Clinicopathological and molecular features of solid pseudopapillary neoplasms: a retrospective series including a small subset of aggressive cases.","authors":"Erdem Comut, Ahmet Celik, Alper Uguz, Orkan Ergun, Simge Baran, Asuman Argon, Deniz Nart, Funda Yilmaz, Nese Calli Demirkan","doi":"10.3389/pore.2026.1612367","DOIUrl":"10.3389/pore.2026.1612367","url":null,"abstract":"<p><p>Solid pseudopapillary neoplasms (SPNs) are rare pancreatic tumors that are indolent but occasionally present with metastatic or locally invasive disease. Although recurrent <i>CTNNB1</i> exon 3 mutations define their molecular background, the clinicopathological and molecular features associated with these less common presentations remain incompletely characterized. This retrospective study included 62 patients diagnosed with SPN between 2000 and 2025. Clinicopathological and immunohistochemical features, including β-catenin, progesterone receptor (PR), androgen receptor (AR), and BAP1, were evaluated. Targeted sequencing was performed in a subset of cases with metastatic or locally invasive disease (n = 5). Patients showed a wide age range (8-71 years), female predominance (54/62, 87.1%), and a mean tumor size of 7.2 cm. Lymphovascular invasion was rare (1/59, 1.7%). Metastatic or locally invasive SPNs (n = 8) more frequently showed higher Ki-67 values (median, 5%; range, 1%-15%), increased mitotic activity (2/8, 25%), and capsular/parenchymal invasion (6/8, 75%), while perineural invasion was absent. All tumors demonstrated nuclear β-catenin expression, with PR and AR positivity (50/59, 84.7% and 47/57, 82.5%, respectively). PR expression was higher in AR-positive cases (43/47, 91.5% vs. 6/10, 60%). BAP1 loss was identified in 13/57 cases (22.8%). Targeted sequencing consistently identified <i>CTNNB1</i> exon 3 mutations. Additional low-frequency molecular alterations affecting genes involved in cell cycle regulation, chromatin remodeling, and signaling pathways, including <i>CDKN2A</i> and <i>BAP1</i>, were observed. During a mean follow-up of 97.2 months, distant metastasis occurred in 4/62 patients (6.5%) and locally invasive disease in 4/62 (6.5%), with an overall survival rate of 95%. Overall, these findings highlight the biological heterogeneity of SPNs and indicate that, despite a shared molecular background, aggressive behavior is not defined by a single reproducible pathological or molecular feature.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612367"},"PeriodicalIF":2.3,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13022977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147575122","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}

{"title":"Prognostic and predictive factors of immune checkpoint inhibitor therapy in urinary bladder cancer.","authors":"Melinda Váradi, Balázs Magyar, Ádám Széles, Sára Korda, Bernadett Németh, Barbara Simon, Henning Reis, Csilla Oláh, Orsolya Horváth, Bálint Dér, Péter Nyirády, Tibor Szarvas","doi":"10.3389/pore.2026.1612333","DOIUrl":"https://doi.org/10.3389/pore.2026.1612333","url":null,"abstract":"<p><p>Immune checkpoint inhibitor (ICI) therapy has become a firmly integrated component of the systemic treatment repertoire for locally advanced and metastatic urothelial bladder cancer (UBC). Over the past decade, multiple ICIs have demonstrated meaningful clinical activity, and their indications have expanded across treatment lines, including second-line therapy after platinum, first-line therapy for cisplatin-ineligible disease, avelumab maintenance following chemotherapy, and, more recently, combination strategies such as pembrolizumab plus enfortumab vedotin. Despite these advances, patient responses to ICIs remain highly heterogeneous. While a subset of patients achieves substantial tumor regression and long-term survival, a considerable proportion derives little or no benefit. The rapidly evolving therapeutic landscape - encompassing antibody-drug conjugates, targeted agents, and perioperative ICI approvals - further emphasizes the need to identify which patients are most likely to respond to immunotherapy. Given the marked variability in therapeutic sensitivity and the increasing availability of alternative effective treatments, accurate prediction of ICI efficacy is becoming increasingly crucial for personalized treatment selection. In this review, we provide a comprehensive overview of currently established and emerging biomarkers of ICI response in UBC, including PD-L1 immunohistochemistry, serum inflammatory markers, tumor mutational burden, histology and molecular subtypes, gene expression patterns and microbiome features. We discuss their strengths, limitations, and potential translational relevance, highlighting ongoing challenges and future directions.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612333"},"PeriodicalIF":2.3,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12989449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147475019","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}

{"title":"Germline <i>BRCA</i> testing in routine clinical practice: a single-center experience.","authors":"Aliz Nikolényi, Ágnes Dobi, Dóra Sántha, Renáta Kószó, Máté Iványi, Emese Horváth, Márton Zsolt Enyedi, Katalin Priskin, Bernadett Csányi, Attila Patócs, Henriett Butz, János Papp, Zoltán Varga, Rozália Tóth, Judit Oláh, Zsuzsanna Kahán","doi":"10.3389/pore.2026.1612238","DOIUrl":"10.3389/pore.2026.1612238","url":null,"abstract":"<p><p>The identification of <i>gBRCA1/2</i> mutations in breast cancer patients is crucial. Successful identification of the mutations has the potential to alter disease treatment and healthcare management of patients whose relatives harbor pathogenic/likely pathogenic (P/LP) variants. In this retrospective analysis, patient- and disease-specific medical data were analyzed in a cohort of breast cancer patients with a known <i>gBRCA1/2</i> status who were treated between 2019-2021. The prevalence and type of <i>gBRCA1/2</i> P/LP variants, and their relation to the histopathological data of the cancers, were studied. The presence of one or more clinical criteria leading to germline testing, the outcome of patient management, and family member outcomes were collected. Germline variants were found in 67/259 cases and included 61 P/LP alterations and six \"variants of unknown significance\" (VUS) of the <i>BRCA1/2</i> genes. A spectrum of 31 different variants was detected; eight of them occurred in more than one patient, of which three (detected in 26 cases) belonged to the mutations most prevalently detected by the previously used technology in Hungary. The likelihood of revealing a pathogenic <i>gBRCA1/2</i> mutation increased with the number of risk criteria for germline testing. The presence of three or more risk criteria was predictive for carrying a <i>gBRCA1/2</i> mutation with an odds ratio (OR) of 10.65 (95% CI 5.20-21.80, p < 0.001). Among the histopathology data, a higher rate of grade 3 or triple negative breast cancer was found among <i>gBRCA1/2</i> P/LP variant carriers as compared to that in non-carriers. For ultimately revealing a <i>gBRCA1/2</i> P/LP variant, a positive family history (OR 6.69, 95% CI 1.82-24.64, p = 0.003) and triple negative breast cancer (OR 5.65, 95% CI 2.73-11.71, p < 0.001) were the strongest independent predictive factors. Knowing of <i>gBRCA1/2</i> alterations meant healthcare management was modified in 86.9% of cases. Germline testing for breast cancer patients, guided by current protocols, is essential for optimizing patient care. Adhering to established clinical criteria facilitates effective patient selection while preventing the unnecessary expansion of testing to average-risk populations. Keywords: <i>BRCA1/2</i>, breast cancer, cancer susceptibility genes, germline testing, medical genetics.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612238"},"PeriodicalIF":2.3,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12963016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147378368","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}

{"title":"The effect of the COVID-19 pandemic on TNM status among head and neck cancer patients in Hungary.","authors":"Benedek Besenczi, Angéla Horváth, Imre Uri, Kornél Dános","doi":"10.3389/pore.2026.1612298","DOIUrl":"10.3389/pore.2026.1612298","url":null,"abstract":"<p><strong>Purpose: </strong>Hungary ranks among the countries with both the highest incidence and mortality of head and neck cancers worldwide. The COVID-19 pandemic, caused by the SARS-CoV-2 virus placed a significant burden on the healthcare system. Our study aims to investigate its impact on Hungarian head and neck cancer patients by analyzing changes in stage at presentation, patient delay and overall survival due to the viral pandemic.</p><p><strong>Methods: </strong>A retrospective cohort study was performed analyzing patients' medical records from a tertiary head and neck surgical center in Hungary. The inclusion criteria required the tumor to be a squamous cell carcinoma of the oral cavity, oropharynx, hypopharynx, or larynx. Based on the timing of restrictive measures due to the pandemic, patients were divided into two groups: Group A: \"pre-COVID-19\" (3 September 2012 - 11 March 2020) and Group B: \"post-COVID-19 onset\" (12 March 2020 - 5 December 2022) The latter group was further subdivided into Group C: \"during-COVID-19\" (12 March 2020 - 13 June 2021) and Group D: \"post-COVID-19\" (14 June 2021 - 5 December 2022).</p><p><strong>Results: </strong>620 patients met the inclusion criteria. Group A had 427 patients, Group B had 193, Group C had 69, and Group D had 124. Compared to Group A (54.1%), there was a higher proportion of N+ status patients in Group B (69.6%), Group C (63.8%), and Group D (73.0%), with a significant difference throughout. Changes in T status and patient delay time was not present. Analyzing symptoms, there was a significant increase in delay time for patients with hemoptysis (from 2.1 to 16.3 weeks). No significant difference in overall survival was observed between the study groups.</p><p><strong>Conclusion: </strong>There are limited publications available on this topic in Europe, particularly in Hungary, especially studies that compare the periods before, during, and after the COVID-19 pandemic. Head and neck cancer patients were found to have more advanced clinical nodal disease after the COVID-19 onset, despite no changes in patient delay time and overall survival. Our findings highlight the importance of further studies on how viral infections and pandemics affect oncology care pathways to improve preparedness for future public health crises.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612298"},"PeriodicalIF":2.3,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12963014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147378310","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}

{"title":"Isolated signals in BCL2, MYC, BCL6, and DDIT3 FISH: implications for genetic alterations and protein dysregulation.","authors":"Zongchen Wei, Qiuyue Chen, Zhenbo Feng, Fang Tang","doi":"10.3389/pore.2026.1612284","DOIUrl":"10.3389/pore.2026.1612284","url":null,"abstract":"<p><strong>Objectives: </strong>Fluorescence <i>in situ</i> hybridization (FISH) break-apart probes are widely employed to detect gene rearrangements in malignant tumors. Notwithstanding their utility, the complex genetic alterations in tumors frequently give rise to isolated signals, the mechanisms underlying which remain poorly understood. This study aimed to elucidate the genetic causes of isolated FISH signals in lymphoma and myxoid liposarcoma samples, providing a more accurate basis for interpreting FISH results.</p><p><strong>Methods: </strong>Six cases of lymphoma and myxoid liposarcoma, which showed isolated signals for <i>BCL2</i>, <i>MYC</i>, <i>BCL6</i>, or <i>DDIT3</i> in FISH detection, were carefully screened. Whole genome resequencing (WGR) was employed to analyze the genetic variations present in these samples. In addition, immunohistochemistry was used to assess the expression levels of the corresponding proteins in these samples.</p><p><strong>Results: </strong>WGR results revealed that all six cases with isolated signals harbored target gene translocations, with 5'and 3'probe-binding region deletions or inversions detected in <i>BCL2</i>, <i>MYC</i>, and <i>BCL6</i>, and in the 5'probe-binding region of <i>DDIT3</i>. Additionally, overexpression of the corresponding proteins was present in samples with isolated <i>BCL2</i>, <i>MYC</i>, and <i>BCL6</i> signals.</p><p><strong>Conclusion: </strong>Deletions or inversions in the probe-binding sequence regions may disrupt probe recognition and binding, leading to isolated FISH signals for <i>BCL2</i>, <i>MYC</i>, <i>BCL6</i>, and <i>DDIT3</i>. Notably, in cases with isolated <i>BCL2</i>, <i>MYC</i>, or <i>BCL6</i> signals, translocations involving these genes were associated with increased expression of their encoded proteins. These findings improve the understanding of FISH signal interpretation in tumor gene rearrangement detection and provide a valuable reference for clinical diagnosis.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"32 ","pages":"1612284"},"PeriodicalIF":2.3,"publicationDate":"2026-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12932253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147309121","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}