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Distribution of TRPC1, TRPC3, and TRPC6 in the human thyroid TRPC1、TRPC3和TRPC6在人甲状腺中的分布。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155796
Emilie Kirstein , Coline M. Diebolt , Mathias Wagner , Alessandro Bozzato , Jan M. Federspiel , Dirk Schaudien , Thomas Tschernig , Colya N. Englisch
{"title":"Distribution of TRPC1, TRPC3, and TRPC6 in the human thyroid","authors":"Emilie Kirstein ,&nbsp;Coline M. Diebolt ,&nbsp;Mathias Wagner ,&nbsp;Alessandro Bozzato ,&nbsp;Jan M. Federspiel ,&nbsp;Dirk Schaudien ,&nbsp;Thomas Tschernig ,&nbsp;Colya N. Englisch","doi":"10.1016/j.prp.2024.155796","DOIUrl":"10.1016/j.prp.2024.155796","url":null,"abstract":"<div><h3>Background</h3><div>Little is known about the protein expression of the transient receptor potential canonical (TRPC) channels 1, 3, and 6 in the thyroid. Research in human tissue is insufficient. Our aim was to investigate the distribution of TRPC1, 3, and 6 in the healthy human thyroid.</div></div><div><h3>Methods</h3><div>Healthy samples were collected from seven nitrite pickling salt-ethanol-polyethylene glycol-fixed cadavers and from one patient who had undergone neck surgery (5 males, 3 females; median = 81.0, interquartile range = 6.5 years). The protein expression profiles of TRPC1, 3, and 6 were assessed using immunohistochemistry with knockout-validated antibodies. A monoclonal calcitonin antibody was used to detect calcitonin-producing C-cells.</div></div><div><h3>Results</h3><div>All samples were labeled as healthy, displaying age-appropriate signs of degeneration. TRPC1, 3, and 6 immunolabeling in thyrocytes showed irregular staining patterns leaving selected cells with intense staining, some without. The comparison of calcitonin- and TRPC1-, 3-, and 6-immunolabeled slides strongly suggested TRPC1, 3, and 6 expression in C-cells. Connective tissue showed no immunoreactivity.</div></div><div><h3>Conclusions</h3><div>This is, to the authors’ knowledge, the first detailed description of the distribution of these channels in the human thyroid. We conclude that TRPC1, 3, and 6 are expressed in thyrocytes and C-cells of the human thyroid. Further studies are necessary to confirm these small-case-number results and to explore the relevance of these versatile channels in thyroidal health and disease.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155796"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909921","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}
引用次数: 0
MicroRNAs and long non-coding RNAs In T-cell lymphoma: Mechanisms, pathway, therapeutic opportunities t细胞淋巴瘤中的microrna和长链非编码rna:机制、途径和治疗机会。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155769
Mohammed H. Abu-Alghayth , Adil Abalkhail , Ali Hazazi , Yara Alyahyawi , Osama Abdulaziz , Abdulaziz Alsharif , Somia A. Nassar , Bashir Ibrahim A. Omar , Sultan F. Alqahtani , Humood Al Shmrany , Farhan R. Khan
{"title":"MicroRNAs and long non-coding RNAs In T-cell lymphoma: Mechanisms, pathway, therapeutic opportunities","authors":"Mohammed H. Abu-Alghayth ,&nbsp;Adil Abalkhail ,&nbsp;Ali Hazazi ,&nbsp;Yara Alyahyawi ,&nbsp;Osama Abdulaziz ,&nbsp;Abdulaziz Alsharif ,&nbsp;Somia A. Nassar ,&nbsp;Bashir Ibrahim A. Omar ,&nbsp;Sultan F. Alqahtani ,&nbsp;Humood Al Shmrany ,&nbsp;Farhan R. Khan","doi":"10.1016/j.prp.2024.155769","DOIUrl":"10.1016/j.prp.2024.155769","url":null,"abstract":"<div><div>T-cell lymphomas represent non-Hodgkin lymphomas distinguished by the uncontrolled proliferation of malignant T lymphocytes. Classifying these neoplasms and the ongoing investigation of their underlying biological mechanisms remains challenging. Significant subtypes encompass peripheral T-cell lymphomas, anaplastic large-cell lymphomas, cutaneous T-cell lymphomas, and adult T-cell leukemia/lymphoma. A systematic literature survey used electronic databases, including PubMed, Springer Link, Google Scholar, and Web of Science. Search keywords included \"T-cell lymphoma,\" \"therapeutic approaches,\" \"RNA therapeutics,\" \"microRNA,\" and \"signaling pathways\". T-cell lymphomas are believed to arise from a complex interplay of genetic predispositions and environmental factors. Epstein-Barr virus (EBV) and Human T-cell leukemia virus-1 (HTLV-1), have been implicated as potential etiologic agents. While the exact molecular mechanisms are under investigation, T-cell lymphomas are distinguished by aberrant proliferation of T-cells resulting from dysregulated gene expression. Contemporary research has emphasized the significance of non-coding RNAs, including microRNAs and long non-coding RNAs, in the etiology and advancement of T-cell lymphomas. Certain miRNAs function as tumor suppressors (e.g., miR-451, miR-31, miR-150, miR-29a), while others can act as oncogenes (e.g., miR-223, miR-17–92, miR-155). Additionally, lcRNAs are responsible for modulating gene expression, and their influence on T-cell function suggests their potential outcome as therapeutic targets.</div><div>Current therapeutic strategies for T-cell lymphomas predominantly rely on chemotherapy, with emerging modalities encompassing immunotherapy and targeted therapies. Despite these advancements, a substantial subset of T-cell lymphomas remains challenging to manage, especially those in advanced stages or refractory to conventional treatments. RNA-based therapeutics represent a promising strategy, offering many advantages such as targeted therapy, potential for personalized medicine, reduced side effects, rapid development, and synergy with other therapies while facing challenges in delivery, immune response, and specificity. Future research should focus on improving delivery systems, modulating immune responses, and optimizing production to unlock its full potential. This review comprehensively explored T-cell lymphomas, delving into their classification, pathogenesis, and existing therapeutic options. Additionally, we explore the evolving function of non-coding RNAs in the pathogenesis of T-cell lymphoma. Furthermore, we discuss the potential of RNA-based therapeutics as a promising treatment strategy.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155769"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909935","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}
引用次数: 0
Malignant transformation of the mature ovarian teratoma into early-stage ovarian adenocarcinoma: A case report with literature review 成熟卵巢畸胎瘤向早期卵巢腺癌恶性转化1例并文献复习。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155793
Marta Joanna Monist , Iwona Paśnik , Marek Semczuk , Andrzej Semczuk
{"title":"Malignant transformation of the mature ovarian teratoma into early-stage ovarian adenocarcinoma: A case report with literature review","authors":"Marta Joanna Monist ,&nbsp;Iwona Paśnik ,&nbsp;Marek Semczuk ,&nbsp;Andrzej Semczuk","doi":"10.1016/j.prp.2024.155793","DOIUrl":"10.1016/j.prp.2024.155793","url":null,"abstract":"<div><div>Although mature ovarian teratoma (MOT) is one of the most commonly detected benign tumours worldwide, its malignant transformation is rare. This article presents a case of a 47-year-old woman, operated on for emergency reasons due to a giant painful ovarian tumour, showing preoperatively no signs of malignancy. Surprisingly, a pathological report showed MOT coexisting with an early-stage ovarian adenocarcinoma developing as an endophytic papilloma. Interestingly, a previously unclassified mutation variant in exon 18 of <em>BRCA2</em> (NM_000059.3):c. 8167 G&gt;A (p.Asp2723Asn) was detected in ovarian adenocarcinoma. A brief literature review has been presented discussing the clinicopathological features of MOT being associated with malignant transformation into an early-stage ovarian adenocarcinoma.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155793"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927716","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}
引用次数: 0
Solid pseudopapillary neoplasm of the pancreas in a 54-year-old woman: A case report and the literature analysis 54岁女性胰腺实性假乳头状肿瘤1例报告及文献分析。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155799
Nina Bondarenko , Alina Bilokha , Oleksii Bielosludtsev , Petro Hrytsenko , Ihor Shponka
{"title":"Solid pseudopapillary neoplasm of the pancreas in a 54-year-old woman: A case report and the literature analysis","authors":"Nina Bondarenko ,&nbsp;Alina Bilokha ,&nbsp;Oleksii Bielosludtsev ,&nbsp;Petro Hrytsenko ,&nbsp;Ihor Shponka","doi":"10.1016/j.prp.2024.155799","DOIUrl":"10.1016/j.prp.2024.155799","url":null,"abstract":"<div><h3>Introduction</h3><div>Solid pseudopapillary neoplasm (SPN) is a rare pancreatic tumor typically occurring in young females. This case presents an instance of SPN in a 54-year-old Caucasian female, highlighting atypical age of onset and providing new insights into the tumor's clinical and histopathological diversity.</div></div><div><h3>Case report</h3><div>A 54-year-old female with no significant past medical history presented with upper abdominal discomfort and weakness. Initial diagnostic imaging suggested a pancreatic tumor. The patient underwent laparotomic resection with pancreatic-gastric anastomosis. Histopathological analysis revealed a 2 cm tumor with mixed growth patterns – solid, trabecular, microcystic, and pseudopapillary – with varying cell types including vacuolated, eosinophilic, and clear cells. Despite showing malignant features such as local invasion in the adjacent pancreatic parenchyma, lymphovascular and perineural invasion, areas of haemorrhage, and focal nuclear atypia, no metastasis was observed. Immunohistochemistry confirmed the diagnosis of SPN with aberrant β-catenin expression. The tumor was resected successfully, and the patient had an uneventful recovery with no additional therapy required. A 60-month follow-up showed no recurrence.</div></div><div><h3>Conclusion</h3><div>This case underscores the rarity of SPN in older patients and the variability in its histopathological presentation. Different growth patterns and microscopic malignant features of SPNs should be taken into account during histological evaluation and pathological reporting, as they may be important for determination of tumor prognostic potential and treatment strategies. Further research is needed to standardize pathologic evaluations and improve understanding of SPN recurrence and management.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155799"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927736","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}
引用次数: 0
Identification of DNA methylation signatures in follicular-patterned thyroid tumors
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155794
Truong Phan-Xuan Nguyen , Hoang Minh Nguyen , Loi Phuc Luu , Dat Quoc Ngo , Shanop Shuangshoti , Nakarin Kitkumthorn , Somboon Keelawat
{"title":"Identification of DNA methylation signatures in follicular-patterned thyroid tumors","authors":"Truong Phan-Xuan Nguyen ,&nbsp;Hoang Minh Nguyen ,&nbsp;Loi Phuc Luu ,&nbsp;Dat Quoc Ngo ,&nbsp;Shanop Shuangshoti ,&nbsp;Nakarin Kitkumthorn ,&nbsp;Somboon Keelawat","doi":"10.1016/j.prp.2024.155794","DOIUrl":"10.1016/j.prp.2024.155794","url":null,"abstract":"<div><h3>Background and aims</h3><div>Follicular-patterned thyroid tumors (FPTTs) are frequently encountered in thyroid pathology, encompassing follicular adenoma (FA), follicular thyroid carcinoma (FTC), noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), and follicular variant of papillary thyroid carcinoma (fvPTC). Recently, a distinct entity termed differentiated high-grade thyroid carcinoma has been described by the 5th edition of the WHO classification of the thyroid tumors, categorized as either high-grade fvPTC, high-grade FTC or high-grade oncocytic carcinoma of the thyroid (OCA). Accurate differentiation among these lesions, particular between the benign (FA), borderline (NIFTP) and malignant neoplasms (FTC and fvPTC), remains a challenge in both histopathological and cytological diagnoses. This study aimed to develop a novel molecular diagnostic approach utilizing DNA methylation to distinguish between these thyroid tumors.</div></div><div><h3>Materials and methods</h3><div>DNA methylation signatures and machine learning were employed to construct classification models for FPTTs. A total of 178 thyroid samples from the Gene Expression Omnibus were analyzed. The models were validated using two independent cohorts.</div></div><div><h3>Results</h3><div>13 cytosine-guanine dinucleotides (CpGs) exhibited significant differences in methylation levels among FA, FTC, NIFTP and fvPTC. Notably, NIFTP showed hypomethylation compared to other subtypes. A Random Forest classifier, based on the methylation status of these 13 CpGs, effectively categorized the four tumor subtypes (AUC = 0.86, accuracy = 0.70 for internal data, and AUC approximately 0.80 for validation data). The selected CpGs were significantly associated with the tumor progression pathway.</div></div><div><h3>Conclusion</h3><div>This study established a robust method for categorizing FPTTs based on DNA methylation patterns. The identified DNA methylation approach holds clinical promise for efficiently diagnosing thyroid neoplasms.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155794"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174234","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}
引用次数: 0
Expression of PRAME in high-grade serous carcinoma is associated with higher residual disease volume and Occludin expression PRAME在高级别浆液性癌中的表达与较高的残留病变体积和Occludin表达相关。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155787
Katharina Bischof , Arild Holth , Assia Bassarova , Ben Davidson
{"title":"Expression of PRAME in high-grade serous carcinoma is associated with higher residual disease volume and Occludin expression","authors":"Katharina Bischof ,&nbsp;Arild Holth ,&nbsp;Assia Bassarova ,&nbsp;Ben Davidson","doi":"10.1016/j.prp.2024.155787","DOIUrl":"10.1016/j.prp.2024.155787","url":null,"abstract":"<div><h3>Background</h3><div>Patients with high-grade serous carcinoma (HGSC) are commonly diagnosed at late disease stages and after primary tumors have disseminated in the peritoneum. The overexpression of tight junction proteins has been associated with poor prognosis in this setting, potentially reflecting the tumor´s adaptive changes in the disease cascade.</div></div><div><h3>Methods</h3><div>By performing immunohistochemistry in a large single-center cohort of a total of 705 HGSC, we test the hypothesis that the protein expression of PReferentially expressed Antigen of MElanoma (PRAME) contains prognostic, predictive or clinically translatable information. We further examine its co-expression with tight junction proteins.</div></div><div><h3>Results</h3><div>We confirmed the nuclear expression of PRAME in 442 (63 %) of specimens with comparable expression levels in peritoneal and pleural effusions (p = 0.72), and in effusions versus surgical specimens (p = 0.339). In effusions, any degree of expression of PRAME was significantly associated with suboptimal debulking surgery during primary treatment (p = 0.034). In surgical specimens, higher expression of PRAME was significantly linked to more advanced FIGO stage (p = 0.021). PRAME expression was not associated with other clinico-pathologic factors as age, CA125 levels, chemoresistance or survival, but correlated with <em>PRAME</em> mRNA levels. Significant correlation was found between expression levels of PRAME and the tight junction protein Occludin (p = 0.002).</div></div><div><h3>Conclusion</h3><div>Taken together, our study confirms PRAME to be expressed in the majority of HGSC effusions and surgical samples. The association of high levels of PRAME expression with incomplete surgical resection status and advanced stage disease may suggest PRAME expression as adaptative mechanism during disease dissemination. This finding warrants confirmation in independent series.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155787"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877739","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}
引用次数: 0
Distinct genomic, transcriptomic, and immune profiles for tumor and non-tumor mucosal regions in early gastric cancer 早期胃癌中肿瘤和非肿瘤粘膜区不同的基因组、转录组学和免疫谱。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155768
You Jeong Heo , Soomin Ahn , So Young Kang , Hyunjin Kim , Byung-Hoon Min , Kyoung-Mee Kim
{"title":"Distinct genomic, transcriptomic, and immune profiles for tumor and non-tumor mucosal regions in early gastric cancer","authors":"You Jeong Heo ,&nbsp;Soomin Ahn ,&nbsp;So Young Kang ,&nbsp;Hyunjin Kim ,&nbsp;Byung-Hoon Min ,&nbsp;Kyoung-Mee Kim","doi":"10.1016/j.prp.2024.155768","DOIUrl":"10.1016/j.prp.2024.155768","url":null,"abstract":"<div><div>In early gastric cancer, local recurrence develops after endoscopic resection by field cancerization. Understanding the nature of cancer-prone environments is important to establish effective strategies to prevent recurrence. We hypothesized that the molecular/immune profiles in non-tumor (cancer-prone) tissue differ according to the relative distance from the gastric tumor. For this purpose, we performed whole-exome and transcriptome sequencing of 16 early gastric cancer samples with paired non-tumor mucosa 1 cm (N1) and 3 cm (N3) away from the tumor. The whole exome sequencing revealed mutations in both the tumor and non-tumor mucosa. <em>TTN</em> was the most frequently altered gene in tumors (31 %) and was the second most frequently altered gene in N1 (25 %) samples; however, the mutation rate was significantly lower in N3 (12 %) samples (<em>P</em> = 0.0046). Moreover, the expression levels of <em>TTN</em> mRNA were higher in tumors than in the N1 and N3 samples and were significantly associated with <em>TTN</em> mutations (<em>P</em> = 0.04). <em>TP53</em> mutations were mainly observed in tumors (50 %) and in 6.3 % of N1, with no mutation detected in N3 samples. Transcriptome sequencing revealed that the expression of the epithelial-mesenchymal transition signature, mesenchymal signature, and proliferation signature was increased in tumors, whereas programmed death-ligand 1 expression was decreased in the non-tumor mucosa. In the tumor, although the numbers of M0/M1 macrophages, neutrophils, and eosinophils increased, plasma cell numbers were markedly decreased compared to non-tumor mucosa. In conclusion, non-tumor mucosa at 1 cm and 3 cm from the tumor harbored different genomic, transcriptomic, and immune cell profiles. The non-tumor mucosa closer to the tumor (1 cm) exhibited similar genomic and transcriptomic features. These findings can offer clinical guidance for acquiring a safe horizontal margin in endoscopic resection for early gastric cancer.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155768"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885342","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}
引用次数: 0
Whole genome profiling of primary and metastatic adrenocortical carcinoma unravels significant molecular events 原发性和转移性肾上腺皮质癌的全基因组分析揭示了重要的分子事件。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155725
Taylor Kalomeris , Majd Al Assaad , Jesus Delgado-de la Mora , Gunes Gundem , Max F. Levine , Baris Boyraz , Jyothi Manohar , Michael Sigouros , Juan S. Medina-Martínez , Andrea Sboner , Olivier Elemento , Theresa Scognamiglio , Juan Miguel Mosquera
{"title":"Whole genome profiling of primary and metastatic adrenocortical carcinoma unravels significant molecular events","authors":"Taylor Kalomeris ,&nbsp;Majd Al Assaad ,&nbsp;Jesus Delgado-de la Mora ,&nbsp;Gunes Gundem ,&nbsp;Max F. Levine ,&nbsp;Baris Boyraz ,&nbsp;Jyothi Manohar ,&nbsp;Michael Sigouros ,&nbsp;Juan S. Medina-Martínez ,&nbsp;Andrea Sboner ,&nbsp;Olivier Elemento ,&nbsp;Theresa Scognamiglio ,&nbsp;Juan Miguel Mosquera","doi":"10.1016/j.prp.2024.155725","DOIUrl":"10.1016/j.prp.2024.155725","url":null,"abstract":"<div><div>Adrenocortical carcinoma (ACC) is a rare, aggressive malignancy with limited treatment options and poor prognosis, with a 5-year survival rate of about 15 %. This study used whole genome sequencing to characterize the genomic landscape of five patients, one of them with both primary and metastatic samples. Key driver mutations were detected, including <em>APC, JAK1, RFWD3</em> as well as other genes. Notably, a primary tumor harbored a <em>RAD51</em> biallelic deleterious translocation, associated with homologous recombination deficiency signature. Large-scale copy neutral loss of heterozygosity (LOH) was identified in four tumors, three had <em>TP53</em> mutations, with structural variants impacting genes as <em>RB1, CDKN2A</em>, and <em>NF1.</em> A genomic signature specific to mismatch repair was observed in a sample with <em>MHS6</em> mutation. Two tumors presented novel fusions at <em>TERT</em> locus, including <em>TERT::ZNF521</em>. Comparative analysis between conventional and oncocytic ACC subtypes revealed no significant differences in mutation load, microsatellite instability, or specific gene enrichment. This comprehensive WGS analysis broadens the spectrum of genomic alterations in ACC, highlighting potential molecular targets and differences across subtypes that may inform future therapeutic strategies.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155725"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142771198","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}
引用次数: 0
Discovery of LINC01614 associated with the SPP1 gene in colorectal cancer 结直肠癌中与SPP1基因相关的LINC01614的发现。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2024.155761
Fatemeh Norouzinasab , Niloufar Salimian , Khatere Mokhtari , Mohammadarian Akbari , Mazaher Maghsoudloo , Maliheh Entezari , Afshin Taheriazam , Najma Farahani , Mehrdad Hashemi
{"title":"Discovery of LINC01614 associated with the SPP1 gene in colorectal cancer","authors":"Fatemeh Norouzinasab ,&nbsp;Niloufar Salimian ,&nbsp;Khatere Mokhtari ,&nbsp;Mohammadarian Akbari ,&nbsp;Mazaher Maghsoudloo ,&nbsp;Maliheh Entezari ,&nbsp;Afshin Taheriazam ,&nbsp;Najma Farahani ,&nbsp;Mehrdad Hashemi","doi":"10.1016/j.prp.2024.155761","DOIUrl":"10.1016/j.prp.2024.155761","url":null,"abstract":"<div><div>Colorectal cancer (CRC) is a prevalent malignancy worldwide, driven by complex molecular mechanisms. This study aims to elucidate the role of lncRNAs within TGF-β pathway, a crucial signaling pathway in CRC progression, focusing specifically on their interaction with the <em>SPP1</em> gene. We employed a multi-faceted approach, starting with comprehensive in silico analyses to identify candidate lncRNAs potentially involved in TGF-β pathway regulation. These candidates were further validated through experimental RT-qPCR assays, comparing lncRNA expression profiles in CRC tissues to adjacent normal samples. Our findings revealed novel lncRNA candidates with significant associations with <em>SPP1</em> in CRC, highlighting their potential regulatory roles in the TGF-β pathway. This integrative study underscores the importance of combining computational predictions with laboratory experimentation to uncover complex regulatory networks in cancer, providing insights into new therapeutic targets and diagnostic biomarkers for CRC.</div></div>","PeriodicalId":19916,"journal":{"name":"Pathology, research and practice","volume":"266 ","pages":"Article 155761"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824403","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}
引用次数: 0
Histological features indicate the risk of progression of patients with Barrett's esophagus 组织学特征提示Barrett食管患者有进展的危险。
IF 2.9 4区 医学
Pathology, research and practice Pub Date : 2025-02-01 DOI: 10.1016/j.prp.2025.155812
Tiane Chen, Hong Ly, Douglas B. Stairs, Christopher R. Jackson, Guoli Chen
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