Cancer diagnosis & prognosis最新文献

{"title":"Malignant Myoepithelioma Arising from the Upper Arm With Brachial Plexus Involvement: A Rare Case.","authors":"Hayato Tatsumi, Toshihiro Matsuo, Takashi Nishisaka, Yui Hattori, Koji Nishida, Ryousuke Matsushita, Masahiro Yoshikawa, Satoshi Aki, Nobuo Adachi","doi":"10.21873/cdp.10596","DOIUrl":"10.21873/cdp.10596","url":null,"abstract":"<p><strong>Background/aim: </strong>Malignant myoepitheliomas (MMs) are infrequent, and the site of upper arm is extremely rare. To our knowledge, only two cases occurred in the upper arms according to previous reports.</p><p><strong>Case report: </strong>A 73-year-old male presented with a growing mass in his left upper arm one year prior to surgery. After a needle biopsy, histopathological analysis revealed the mass to be a myxoid sarcoma but did not reach to definite diagnosis. The tumor was excised from the brachial plexus. The brachial artery and vein were preserved. The radial nerve was strongly adherent to the tumor, however, the radial nerve, the median, ulnar, and radial nerves could be preserved. Histopathological examination and fusion gene analysis of the resected specimen revealed MM. As adjuvant therapy, postoperative intensity-modulated radiation therapy (IMRT) was administered. At the current follow-up, for four years after surgery, no local recurrence or metastasis has been observed, and the patient has good limb function.</p><p><strong>Conclusion: </strong>We report on an extremely rare case of MM located in upper arm. Resection with radiation therapy may be contributing to a better prognosis and function, although further studies are required regarding treatment validity.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"942-946"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic Impact of Recurrence Location in Locally Recurrent Rectal Cancer: A Single-Center Retrospective Study.","authors":"Sho Nambara, Koji Ando, Tetsuro Kawazoe, Shotaro Korehisa, Yasuo Tsuda, Tomonori Nakanoko, Eiji Oki, Tomoharu Yoshizumi","doi":"10.21873/cdp.10588","DOIUrl":"10.21873/cdp.10588","url":null,"abstract":"<p><strong>Background/aim: </strong>Locally recurrent rectal cancer (LRRC) remains challenging, and optimal treatment strategies vary by recurrence location. We retrospectively evaluated treatment patterns and outcomes of LRRC without distant metastasis, focusing on the Memorial Sloan Kettering Cancer Center (MSKCC) pelvic compartment classification.</p><p><strong>Patients and methods: </strong>We retrospectively analyzed 20 patients with LRRC without distant metastasis treated at our institution between 2005 and 2025. Recurrence sites were categorized as axial, anterior, posterior, or lateral according to the MSKCC classification. Treatment modalities, resection margin status, perioperative outcomes, and survival were analyzed.</p><p><strong>Results: </strong>The median interval from primary tumor resection to LRRC diagnosis was 30 months. Ten patients had axial recurrence, two anterior, two posterior, and six lateral recurrence. Seventeen patients underwent surgery (surgery alone, n=8; preoperative therapy plus surgery, n=9), while three patients received nonsurgical management; all nonsurgical cases were lateral recurrence. Median blood loss, operative time, and postoperative length of stay among surgical cases were 592 ml, 477 min, and 29 days, respectively. Major postoperative morbidity (Clavien-Dindo ≥IIIb) occurred in one axial patient (bladder injury). R1 and R2 resections were observed in four (23.6%) and one (5.9%) surgical cases, respectively. Posterior (2/2) and lateral (3/6) recurrences more frequently required preoperative therapy and showed a high rate of re-recurrence. When grouped as axial/anterior <i>versus</i> posterior/lateral, overall survival and re-recurrence-free survival were significantly worse in the posterior/lateral group (<i>p</i>=0.044 and <i>p</i>=0.0059, respectively).</p><p><strong>Conclusion: </strong>MSKCC-based location stratification may be clinically useful for LRRC treatment. Posterior and lateral recurrences were associated with poor outcomes even after surgery, suggesting the need for careful patient selection and consideration of alternative or intensified multimodal strategies.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"872-881"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Casein Kinase 1 Alpha 1 Is Over-expressed in Pancreatic Adenocarcinoma Tissues and Correlates With Shorter Patient Survival.","authors":"Shin-Nosuke Yamashita, Yoshiatsu Tanaka, Shajedul Islam, Takao Kitagawa, Kazuhiro Tokuda, Durga Paudel, Sarita Giri, Tohru Ohta, Fumiya Harada, Hiroki Nagayasu, Yasuhiro Kuramitsu","doi":"10.21873/cdp.10584","DOIUrl":"10.21873/cdp.10584","url":null,"abstract":"<p><strong>Background/aim: </strong>A quarter of a century has passed since the start of the 21st century, and cancer, once considered an incurable disease, has become manageable thanks to the development of various treatments. However, pancreatic adenocarcinoma (PAAD) remains one of the deadliest cancers in the world, with over 95% of patients dying within five years. This is because the anatomical location of the pancreas makes it very difficult to detect with imaging, and symptoms often do not appear until the cancer invades the nerve plexus in its terminal stages, meaning that by the time it is diagnosed, it is often too late. Therefore, the development of prognostic markers is an urgent task. Casein kinase 1 alpha 1 (CSNK1A1) is a serine/threonine protein kinase deeply involved in Wnt signaling and the tumor suppressor mechanisms of p53. While the association between increased or decreased CSNK1A1 expression and prognosis has been reported in many types of cancer tissue, its association in PAAD is not yet fully understood. This study investigated the potential of CSNK1A1 as a prognostic marker for PAAD.</p><p><strong>Materials and methods: </strong>We used Gene Expression Profiling Interactive Analysis (GEPIA) and the University of Alabama Birmingham Cancer Data Analysis Portal (UALCAN) bioinformatics platforms to analyze <i>CSNK1A1</i> mRNA expression, protein levels, and survival rates of patients with PAAD obtained from The Cancer Genome Atlas (TCGA) database.</p><p><strong>Results: </strong><i>CSNK1A1</i> mRNA and protein levels were significantly higher in PAAD tissue compared to normal pancreatic tissue, and this increase was associated with a poor prognosis in patients with PAAD.</p><p><strong>Conclusion: </strong>In PAAD tissue, increased expression of <i>CSNK1A1</i> mRNA and protein was observed compared to normal pancreatic tissue, and this increased expression correlated with poor patient prognosis. Therefore, CSNK1A1 is considered a promising prognostic biomarker in PAAD.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"825-832"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two Cases of Uterine Small-cell Neuroendocrine Carcinoma With Somatostatin-receptor-type-2 (SSTR2) Expression and Minor Components of Endocervical Adenocarcinoma.","authors":"Masamichi Bamba, Tomo Namura, Toshikazu Kato, Masanori Shiohara, Kenji Isogawa, Mao Uemura, Shiro Wakinoue, Hiroko Yomo, Tetsuya Nakagawa, Tetsuya Katsumori, Ryoji Kushima, Suzuko Moritani","doi":"10.21873/cdp.10593","DOIUrl":"10.21873/cdp.10593","url":null,"abstract":"<p><strong>Background/aim: </strong>Uterine small cell neuroendocrine carcinoma (SCNEC) is a highly malignant and aggressive neoplasm. When chemotherapy is necessary, a platinum-based regimen similar to that used for pulmonary SCNEC is recommended. We encountered two cases of uterine SCNEC expressing somatostatin receptor type 2 (SSTR2), both with minor components of endocervical adenocarcinoma (ECAC). This study aimed to clarify the histogenesis and progression of these carcinomas through detailed histopathological, immunohistochemical, and <i>TP53</i> mutation analysis, in order to contribute to the development of treatment strategies.</p><p><strong>Case report: </strong>In both cases, SCNEC components were diffusely positive for synaptophysin and SSTR2, whereas the ECAC components were negative for both markers. Both components were diffusely, block-type positive for p16, suggesting that they were primary cervical cancers of a common origin even if they differed in characteristics and phenotype. In one of the two cases, both SCNEC and ECAC components were diffusely positive for p53. <i>TP53</i> mutation analysis revealed a shared exon 4 point mutation in both components and an additional exon 7 point mutation only in the SCNEC component, suggesting clonal progression from ECAC to SCNEC.</p><p><strong>Conclusion: </strong>These cases suggest that uterine SCNEC may coexist with, and in some cases arise from, ECAC. SSTR2 expression in uterine SCNEC may have prognostic and therapeutic significance, supporting consideration of somatostatin analogues and future SSTR2-targeted strategies. Because coexisting histological subtypes such as ECAC may persist after treatment directed at SCNEC, therapeutic planning should include careful pathological assessment and consideration of multimodal treatment.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"918-927"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preoperative Magnetic Resonance Imaging Findings of the Transition Zone Predict Incidental Prostate Cancer in HoLEP.","authors":"Toshiki Ito, Yusaku Hisamatsu, Shuhei Mizutani, Takashi Kodama, Shinya Watanabe, Hiroyuki Amano, Teruo Inamoto","doi":"10.21873/cdp.10591","DOIUrl":"10.21873/cdp.10591","url":null,"abstract":"<p><strong>Background/aim: </strong>To assess the effectiveness of magnetic resonance imaging (MRI) of the transition zone (TZ) for predicting incidental prostate cancer (iPCa) detected after holmium laser enucleation of the prostate by comparing cases with and without iPCa.</p><p><strong>Patients and methods: </strong>We retrospectively evaluated 136 patients who underwent holmium laser enucleation for benign prostatic hyperplasia (BPH) between June 2022 and April 2025. After excluding seven patients with biopsy-confirmed prostate cancer, data from 114 patients were analyzed and divided into two groups: iPCa (n=17) and BPH (n=97). The preoperative and postoperative outcomes were compared. Univariate and multivariate logistic regression analyses were performed to identify independent predictors of iPCa. MRI assessment focused exclusively on the TZ according to version 2.1 of the Prostate Imaging-Reporting and Data System (PI-RADS).</p><p><strong>Results: </strong>MRI-TZ findings of a PI-RADS score of 3 or more were significantly more prevalent in the iPCa group than in the BPH group (64.7% <i>vs.</i> 16.5%, <i>p</i><0.0001). Univariate analysis identified both positive MRI-TZ findings, a prostate-specific antigen (PSA) level greater than 6.2 ng/ml and TZ-adjusted PSA level greater than 0.18 ng/ml/ml as significant predictors of iPCa. However, multivariate logistic regression identified only positive MRI-TZ findings as an independent predictor of iPCa (odds ratio=8.96, 95% confidence interval=2.68-29.9; <i>p</i>=0.0004). No significant differences in postoperative urinary outcomes were observed between the two groups.</p><p><strong>Conclusion: </strong>Preoperative positive MRI-TZ findings may predict iPCa in patients undergoing holmium laser prostate enucleation and potentially guide individualized perioperative risk stratification.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"900-908"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Co-expression of the Mammaglobin (<i>SCGB2A2</i>) Gene With hsa-miR-184 and hsa-miR-190b Indicates Its Possible Role in Oncogenic Pathways in Breast Cancer.","authors":"Juan Felipe Abella-Duque, Liliana López-Kleine, Rafael Parra-Medina, Sandra Ramírez-Clavijo, César Payán-Gómez","doi":"10.21873/cdp.10586","DOIUrl":"10.21873/cdp.10586","url":null,"abstract":"<p><strong>Background/aim: </strong>Breast cancer is the most common cancer in women worldwide, and early detection remains a significant challenge. Recent studies have identified increased expression of Mammaglobin A (Q13296, Gene: <i>SCGB2A2</i>) mRNA in breast cancer, suggesting its potential as a disease marker, although its function is not fully understood. To elucidate Mammaglobin's role, this study sought to identify co-expressed miRNAs and analyze the biological pathways they regulate.</p><p><strong>Materials and methods: </strong>Using TCGAbiolinks and Firebrowse, miRNA and gene expression data were collected from 86 patients, including tumor and normal tissue samples from the Cancer Genome Atlas (TCGA) Breast Cancer cohort. Transcriptomic data were analyzed with DESeq2, and a Spearman correlation was calculated for significant <i>p</i>-values, which were further explored using enrichment tools and target gene databases.</p><p><strong>Results: </strong>DESeq2 was used to identify differential expression of miRNAs between normal and tumor breast tissues. Out of 782 miRNAs differentially expressed in breast cancer, hsa-mir-184 and hsa-mir-190b showed a significant positive correlation with <i>SCGB2A</i> expression. These markers were also upregulated in breast cancer tissues compared to normal tissues. Bioinformatics analysis revealed that hsa-mir-184 and hsa-mir-190b play important roles in cancer and cellular proliferation. These miRNAs target a wide range of genes, including sorting nexin 9 (<i>SNX9</i>) and annexin 6 (<i>ANXA6</i>), which are involved in membrane stability, vesicular trafficking, and cell mobility, and they contribute to cancer metastasis.</p><p><strong>Conclusion: </strong>The positive correlation among the expression of hsa-miR-184, hsa-miR-190b, and SCGB2A2 suggests that they may participate in shared biological pathways. These pathways govern critical cellular processes, such as membrane trafficking and cell signaling, which are frequently disrupted in cancer. Consequently, these findings enable a better understanding of the role of Mammaglobin in breast cancer signaling.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"843-863"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First-line Enfortumab Vedotin Plus Pembrolizumab in Platinum-ineligible Advanced Urothelial Carcinoma.","authors":"G O Kaneko, Daisuke Igarashi, Suguru Shirotake","doi":"10.21873/cdp.10590","DOIUrl":"10.21873/cdp.10590","url":null,"abstract":"<p><strong>Background/aim: </strong>Platinum-ineligible patients with locally advanced or metastatic urothelial carcinoma represent a clinically vulnerable population with limited treatment options and poor historical outcomes. Although first-line enfortumab vedotin plus pembrolizumab has become a new standard treatment, evidence in platinum-ineligible patients remains limited. This study described the real-world clinical course of platinum-ineligible patients treated with first-line enfortumab vedotin plus pembrolizumab within a consecutive cohort.</p><p><strong>Patients and methods: </strong>This retrospective single-center study included 40 consecutive patients with locally advanced or metastatic urothelial carcinoma who initiated first-line enfortumab vedotin plus pembrolizumab between December 2024 and March 2026. Platinum eligibility was determined using prespecified creatinine clearance-based criteria. Tumor response, progression-free survival, overall survival, treatment-related adverse events, and individual treatment courses were evaluated descriptively.</p><p><strong>Results: </strong>Among 40 patients, eight were classified as platinum ineligible. Tumor response was evaluable in six platinum-ineligible patients, of whom one achieved complete response and three achieved partial response. Median progression-free survival and overall survival were not reached in the platinum-ineligible subgroup. Grade ≥3 treatment-related adverse events were infrequent. The swimmer plot demonstrated heterogeneous clinical trajectories, including early discontinuation in some patients and prolonged treatment exposure or off-treatment disease control in others.</p><p><strong>Conclusion: </strong>First-line enfortumab vedotin plus pembrolizumab showed encouraging clinical activity and acceptable tolerability in selected platinum-ineligible patients with advanced urothelial carcinoma. Given the small subgroup size, these findings should be interpreted as descriptive and hypothesis-generating.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"890-899"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced <i>HMGCR</i> Expression in Clear Cell Renal Cell Carcinoma Is Associated With Poor Patient Prognosis.","authors":"Etsushi Akitaya, Yuzuki Nakamura, Shiho Kato, Hinayo Kikuta, Teruo Endoh, Yasuhiro Kuramitsu, Yuji Takahashi","doi":"10.21873/cdp.10587","DOIUrl":"10.21873/cdp.10587","url":null,"abstract":"<p><strong>Background/aim: </strong>Renal cell carcinoma (RCC) is a heterogeneous malignancy, with clear cell renal cell carcinoma (KIRC) being the most common subtype, characterized by von Hippel-Lindau (<i>VHL</i>) tumor suppressor gene inactivation and hypoxia-inducible factor (HIF) pathway activation, leading to enhanced angiogenesis and tumor progression. Although targeted therapies are available, the prognosis remains poor. Statins targeting HMG-CoA reductase (HMGCR) may influence RCC outcomes; however, the findings are inconsistent and subtype-specific effects are unclear. Although high <i>HMGCR</i> expression is associated with improved overall survival in KIRC, its relationship with disease-free survival in other RCC subtypes remains unknown. This study analyzed <i>HMGCR</i> expression and its prognostic significance in KIRC, papillary renal cell carcinoma (KIRP), and chromophobe renal cell carcinoma (KICH) using TCGA data.</p><p><strong>Materials and methods: </strong>We analyzed <i>HMGCR</i> mRNA expression and survival in patients with KIRC, KIRP, and KICH using the TCGA database with the GEPIA2, UALCAN and UCSC Xena platforms.</p><p><strong>Results: </strong>Decreased expression levels of <i>HMGCR</i> were significantly associated with shorter overall and disease-free survival in patients with KIRC. In contrast, no significant differences in overall survival or disease-free survival were observed in patients with KIRP or KICH. Furthermore, multivariable Cox proportional hazards analysis identified <i>HMGCR</i> as an independent prognostic factor in KIRC.</p><p><strong>Conclusion: </strong>Our results suggest that low <i>HMGCR</i> expression may be a poor prognostic factor in patients with KIRC.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"864-871"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immune Checkpoint Inhibitor Resistance in Rectal Adenocarcinoma Containing a Mismatch Repair Deficiency Component: A Case Report.","authors":"Kohei Okura, Haruka Takenaka, Hiroshi Fujita, Norihisa Hanada, Yoshihiro Komohara","doi":"10.21873/cdp.10595","DOIUrl":"10.21873/cdp.10595","url":null,"abstract":"<p><strong>Background/aim: </strong>Immune checkpoint inhibitors (ICIs) are important therapeutic options for metastatic colorectal cancer showing microsatellite instability-high (MSI-H)/mismatch repair deficiency (dMMR). We report a case of rectal adenocarcinoma with liver metastases diagnosed as dMMR cancer that was resistant to ICI therapy, leading us to conduct an additional pathological analysis to uncover the reasons underlying ICI resistance.</p><p><strong>Case report: </strong>A 53-year-old woman had a tumor in the lower rectum. Biopsy revealed coexisting gland-forming low-grade (well-to-moderately differentiated) adenocarcinoma and high-grade (poorly differentiated) adenocarcinoma components arising in a background of tubulovillous adenoma. Immunohistochemically, MLH1 and MSH2 expression was lost in the high-grade adenocarcinoma component, but retained in the adenomatous and low-grade adenocarcinoma components. The patient was diagnosed as having cT4N2M1, stage IV disease (Union for International Cancer Control TNM Classification of Malignant Tumours), with multiple liver metastases. The tumor was unresectable, so treatment with ICIs, including pembrolizumab, was administered; however, no clinical response was observed, and the liver metastases progressed. Additional immunohistochemistry showed a high density of CD3-positive T lymphocytes in high-grade adenocarcinoma as compared with other components. Human leukocyte antigen (HLA)-A/B/C expression was observed in all tumor components, whereas HLA-DR expression differed. HLA-E was expressed in all tumor components, while heterogeneous HLA-G expression was detected in tumor cells.</p><p><strong>Conclusion: </strong>The findings of the present case suggest that ICI resistance might be due to the heterogeneity of dMMR. Thus, comprehensive pathological evaluation of tumor heterogeneity may be important for understanding ICI responsiveness in metastatic colorectal cancer.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"934-941"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Jejunal Mixed Adenoneuroendocrine Carcinoma (MANEC) With a Novel PTPRK-RSPO3 Fusion Initially Presenting as a Large Ovarian Mass: Diagnostic Challenges and Poor Prognosis.","authors":"Ran Wang, Jinping Lai","doi":"10.21873/cdp.10594","DOIUrl":"10.21873/cdp.10594","url":null,"abstract":"<p><strong>Background/aim: </strong>Jejunal mixed adenoneuroendocrine carcinomas (MANECs) are rare but aggressive tumors. We report such a case initially present as a large ovarian mass with a novel gene fusion.</p><p><strong>Case report: </strong>A 51-year-old female presented with multiple episodes of abdominal pain. Computed tomography (CT) scan showed a 16.1 cm right ovarian mass. Surgery was performed and intraoperative frozen sections of the ovarian mass showed adenocarcinoma. Further histopathologic evaluation of the ovarian tumor demonstrated intestinal type of adenocarcinoma with CDX2 and SATB2 immunoreactivities, suggestive of metastatic colorectal adenocarcinoma. Colonoscopy and upper gastrointestinal (GI) endoscopy failed to identify the GI primary lesion. The patient subsequently received chemotherapy and later developed small bowel obstruction and perforation. Pathology assessment of the small bowel revealed a perforation associated jejunal MANEC with 45% of large cell type of neuroendocrine carcinoma with diffuse immunoreactivity of synaptophysin and chromogranin, and 55% of intestinal type of adenocarcinoma with mucin-producing features and negative for neuroendocrine markers. The Jejunal tumor showed similar histology and immunoprofile of the prior ovarian tumor. The next generation sequencing (NGS) of the jejunal tumor identified a novel mutation involving protein tyrosine phosphatase receptor type K and R-spondin 3 (PTPRK-RSPO3) fusion. The patient underwent palliative chemotherapy and expired in seven months.</p><p><strong>Conclusion: </strong>This is the first documented case of jejunal MANEC with novel PTPRK-RSPO3 fusion initially presenting as ovarian metastasis with diagnostic and therapeutic challenges. The aggressive high-grade MANEC likely contributed to disease progression despite therapy.</p>","PeriodicalId":72510,"journal":{"name":"Cancer diagnosis & prognosis","volume":"6 5","pages":"928-933"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}