Journal of Pathology and Translational Medicine最新文献

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Cytological features of atypical adenomatous hyperplasia and adenocarcinoma in situ of the lung: a case report. 肺非典型腺瘤性增生和原位腺癌的细胞学特征:1例报告。
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-05-09 DOI: 10.4132/jptm.2025.04.09
Misa Takahashi, Seiya Homma, Chisato Setoguchi, Yoko Umezawa, Atsuhiko Sakamoto
{"title":"Cytological features of atypical adenomatous hyperplasia and adenocarcinoma in situ of the lung: a case report.","authors":"Misa Takahashi, Seiya Homma, Chisato Setoguchi, Yoko Umezawa, Atsuhiko Sakamoto","doi":"10.4132/jptm.2025.04.09","DOIUrl":"https://doi.org/10.4132/jptm.2025.04.09","url":null,"abstract":"<p><p>Atypical adenomatous hyperplasia (AAH) and adenocarcinoma in situ (AIS) are generally treated as different lesions, depending on the differences in lesion size and histological findings. However, these differences are not absolute; thus, AAH and AIS are often difficult to distinguish. Moreover, whether AAH and AIS can be regarded as different lesions remains unknown because cytological specimens, especially those of AAH, are rare. In this study, we examined these uncommon cytological specimens and compared the cytological findings between AAH and AIS. We observed many common cytological features with no obvious differences between AAH and AIS. These findings suggest that these two distinct lesions can be grouped into a single category. Therefore, we propose creating a new cytological category.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144034814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thoracic aortic calcification as a predictor of coronary artery disease: a systematic review and meta-analysis. 胸主动脉钙化作为冠状动脉疾病的预测因子:一项系统回顾和荟萃分析
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-04-30 DOI: 10.4132/jptm.2025.03.05
Hussein Nafakhi, Alaa Salah Jumaah, Akeel Abed Yasseen
{"title":"Thoracic aortic calcification as a predictor of coronary artery disease: a systematic review and meta-analysis.","authors":"Hussein Nafakhi, Alaa Salah Jumaah, Akeel Abed Yasseen","doi":"10.4132/jptm.2025.03.05","DOIUrl":"https://doi.org/10.4132/jptm.2025.03.05","url":null,"abstract":"<p><strong>Background: </strong>The relationship between coronary atherosclerosis (progression, outcome) and calcification in the thoracic aorta (TAC), particularly across its various segments, is complex and often shows conflicting associations in the literature. To address this debated and complex relationship, we aimed to evaluate how TAC and its segments correlate with the presence and severity of coronary artery disease (CAD).</p><p><strong>Methods: </strong>We reviewed all articles published between January 1990 and September 2024 that examined the link between TAC and CAD and were indexed in PubMed, Scopus, or EMBASE. Using a random-effects model, we calculated pooled proportions, odds ratios, and corresponding 95% confidence intervals (CIs) to evaluate the association between TAC and CAD, with consideration of severity.</p><p><strong>Results: </strong>The study included 17 studies with 8,187 participants, 2,775 of whom had CAD (1,059 with severe CAD), and 5,412 of whom did not. The pooled odds ratio of TAC in patients with CAD compared to that in those without was 3.874 (95% CI, 2.789 to 5.381). For severe CAD versus mild CAD, the odds ratio was 8.005 (95% CI, 2.611 to 24.542). Calcification of the aortic root (pooled proportion, 51%; 95% CI, 0.282 to 0.733) or descending aorta (pooled proportion, 53.4%; 95% CI, 0.341 to 0.718) had the strongest association with CAD compared to calcification of the arch or ascending aorta.</p><p><strong>Conclusions: </strong>TAC is significantly associated with both the presence and severity of CAD. Calcification in the descending aorta and aortic root is more strongly linked to CAD than calcification in the arch or ascending aorta.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary Merkel cell carcinoma of the salivary gland: a clinicopathologic study of four cases with a review of literature. 原发性唾液腺默克尔细胞癌:四例临床病理研究并文献复习。
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-04-30 DOI: 10.4132/jptm.2025.03.25
Gyuheon Choi, Joon Seon Song, Hee Jin Lee, Gi Hwan Kim, Young Ho Jung, Yoon Se Lee, Kyung-Ja Cho
{"title":"Primary Merkel cell carcinoma of the salivary gland: a clinicopathologic study of four cases with a review of literature.","authors":"Gyuheon Choi, Joon Seon Song, Hee Jin Lee, Gi Hwan Kim, Young Ho Jung, Yoon Se Lee, Kyung-Ja Cho","doi":"10.4132/jptm.2025.03.25","DOIUrl":"https://doi.org/10.4132/jptm.2025.03.25","url":null,"abstract":"<p><strong>Background: </strong>Primary Merkel cell carcinoma of the salivary gland is currently not listed in the World Health Organization classification. However, cases of Merkel cell type neuroendocrine carcinomas of the salivary gland with perinuclear cytokeratin 20 positivity have been intermittently reported. We here investigated the clinicopathologic features of additional cases.</p><p><strong>Methods: </strong>Data of four cases of Merkel cell type small cell neuroendocrine carcinoma of the salivary gland were retrieved. To confirm the tumors' primary nature, clinical records and pathologic materials were reviewed. Optimal immunohistochemical staining was performed to support the diagnosis.</p><p><strong>Results: </strong>All tumors were located in the parotid gland. Possibilities of metastasis were excluded in all cases through a meticulous clinicopathological review. Tumor histology was consistent with the diagnosis of small cell neuroendocrine carcinoma. Tumors' immunohistochemical phenotypes were consistent with Merkel cell carcinoma, including Merkel cell polyomavirus large T antigen positivity in two of the four cases.</p><p><strong>Conclusions: </strong>Merkel cell carcinomas can originate in salivary glands and are partly associated with Merkel cell polyomavirus infection as in cutaneous Merkel cell carcinomas.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Categorizing high-grade serous ovarian carcinoma into clinically relevant subgroups using deep learning-based histomic clusters. 使用基于深度学习的组织簇将高级别浆液性卵巢癌分类为临床相关亚组。
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-03-01 Epub Date: 2025-02-18 DOI: 10.4132/jptm.2024.10.23
Byungsoo Ahn, Eunhyang Park
{"title":"Categorizing high-grade serous ovarian carcinoma into clinically relevant subgroups using deep learning-based histomic clusters.","authors":"Byungsoo Ahn, Eunhyang Park","doi":"10.4132/jptm.2024.10.23","DOIUrl":"10.4132/jptm.2024.10.23","url":null,"abstract":"<p><strong>Background: </strong>High-grade serous ovarian carcinoma (HGSC) exhibits significant heterogeneity, posing challenges for effective clinical categorization. Understanding the histomorphological diversity within HGSC could lead to improved prognostic stratification and personalized treatment approaches.</p><p><strong>Methods: </strong>We applied the Histomic Atlases of Variation Of Cancers model to whole slide images from The Cancer Genome Atlas dataset for ovarian cancer. Histologically distinct tumor clones were grouped into common histomic clusters. Principal component analysis and K-means clustering classified HGSC samples into three groups: highly differentiated (HD), intermediately differentiated (ID), and lowly differentiated (LD).</p><p><strong>Results: </strong>HD tumors showed diverse patterns, lower densities, and stronger eosin staining. ID tumors had intermediate densities and balanced staining, while LD tumors were dense, patternless, and strongly hematoxylin-stained. RNA sequencing revealed distinct patterns in mitochondrial oxidative phosphorylation and energy metabolism, with upregulation in the HD, downregulation in the LD, and the ID positioned in between. Survival analysis showed significantly lower overall survival for the LD compared to the HD and ID, underscoring the critical role of mitochondrial dynamics and energy metabolism in HGSC progression.</p><p><strong>Conclusions: </strong>Deep learning-based histologic analysis effectively stratifies HGSC into clinically relevant prognostic groups, highlighting the role of mitochondrial dynamics and energy metabolism in disease progression. This method offers a novel approach to HGSC categorization.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":" ","pages":"91-104"},"PeriodicalIF":1.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442304","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}
引用次数: 0
Erratum: Breast fine-needle aspiration cytology in the era of core-needle biopsy: what is its role? 勘误:乳腺细针穿刺细胞学在核心针活检时代:它的作用是什么?
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-03-01 Epub Date: 2025-03-14 DOI: 10.4132/jptm.2024.11.01.r
Ahrong Kim, Hyun Jung Lee, Jee Yeon Kim
{"title":"Erratum: Breast fine-needle aspiration cytology in the era of core-needle biopsy: what is its role?","authors":"Ahrong Kim, Hyun Jung Lee, Jee Yeon Kim","doi":"10.4132/jptm.2024.11.01.r","DOIUrl":"10.4132/jptm.2024.11.01.r","url":null,"abstract":"","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"59 2","pages":"147"},"PeriodicalIF":1.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12026265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804352","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}
引用次数: 0
Mucocele of the rectal stump: mucinous cystic neoplasm with low-grade dysplasia simulating low-grade appendiceal mucinous neoplasm. 直肠残端黏液囊肿:黏液囊性肿瘤伴低级别发育不良,类似低级别阑尾黏液性肿瘤。
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-03-01 Epub Date: 2025-02-26 DOI: 10.4132/jptm.2024.12.27
Hasan Basri Aydin, Maria Faraz, A David Chismark, Haiyan Qiu, Hwajeong Lee
{"title":"Mucocele of the rectal stump: mucinous cystic neoplasm with low-grade dysplasia simulating low-grade appendiceal mucinous neoplasm.","authors":"Hasan Basri Aydin, Maria Faraz, A David Chismark, Haiyan Qiu, Hwajeong Lee","doi":"10.4132/jptm.2024.12.27","DOIUrl":"10.4132/jptm.2024.12.27","url":null,"abstract":"<p><p>Mucoceles, commonly observed in the appendix, are mucin-filled, dilated structures arising from a range of etiologies. Cases associated with dysplastic or neoplastic epithelium can rupture and disseminate within the abdominopelvic cavity. Similar lesions in other parts of the colon are exceedingly rare, with only 16 colonic mucoceles having been reported. The first case of a colonic mucinous neoplasm with dysplasia resembling a low-grade appendiceal mucinous neoplasm involving rectal stump was described in 2016. Here, we present the second such case arising in the rectal stump, identified in a 44-year-old male with extensive surgical history. Microscopic examination revealed low-grade dysplastic epithelium lining the cyst and mucin dissecting into the stroma, without evidence of rupture or extramural mucin. The patient was followed for 16 months without recurrence or peritoneal disease. The exact etiology and outcome of these rare lesions remain unknown, requiring close follow-up.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"59 2","pages":"139-146"},"PeriodicalIF":1.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804353","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}
引用次数: 0
Association study of TYMS gene expression with TYMS and ENOSF1 genetic variants in neoadjuvant chemotherapy response of gastric cancer. TYMS基因表达与TYMS和ENOSF1基因变异在胃癌新辅助化疗反应中的相关性研究。
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-03-01 Epub Date: 2025-02-25 DOI: 10.4132/jptm.2024.11.05
Khadijeh Arjmandi, Iman Salahshourifar, Shiva Irani, Fereshteh Ameli, Mohsen Esfandbod
{"title":"Association study of TYMS gene expression with TYMS and ENOSF1 genetic variants in neoadjuvant chemotherapy response of gastric cancer.","authors":"Khadijeh Arjmandi, Iman Salahshourifar, Shiva Irani, Fereshteh Ameli, Mohsen Esfandbod","doi":"10.4132/jptm.2024.11.05","DOIUrl":"10.4132/jptm.2024.11.05","url":null,"abstract":"<p><strong>Background: </strong>The present research was designed to study the associations between genetic variants of TYMS and ENOSF1 genes with TYMS and ENOSF1 gene expression in neoadjuvant chemotherapy response among patients with gastric cancer.</p><p><strong>Methods: </strong>Formalin-embedded and paraffin-fixed matched tumor and normal gastric cancer tissue samples from patients who received neoadjuvant 5-fluorouracil (5-FU) treatment were obtained. DNA and RNA were extracted for all samples. A 28-bp variable number tandem repeat (VNTR) at the 5' untranslated region of TYMS gene and rs2612091 and rs2741171 variants in the ENOSF1 gene were genotyped for normal tissue samples. The real-time polymerase chain reaction method was used to study the expression of ENOSF1 and TYMS genes in both normal and tumor tissues. Data were analyzed using REST 2000 and SPSS ver. 26.0 software programs.</p><p><strong>Results: </strong>A significant association between TYMS 2R3R VNTR genotypes and 5-FU therapy was found (p = .032). The 3R3R and 2R2R genotypes were significantly associated with increased and decreased survival time, respectively (p = .003). The 3R3R genotype was significantly associated with TYMS overexpression (p < .001). Moreover, a significant association was found between the rs2612091 genotype and treatment outcome (p = .017).</p><p><strong>Conclusions: </strong>This study highlights the impact of TYMS and ENOSF1 genes as predictive indicators for survival and response to 5-FU-based neoadjuvant chemotherapy in gastric cancer patients.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"59 2","pages":"105-114"},"PeriodicalIF":1.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804348","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}
引用次数: 0
Uncommon granulomatous manifestation in Epstein-Barr virus-positive follicular dendritic cell sarcoma: a case report. 爱泼斯坦-巴氏病毒阳性滤泡树突状细胞肉瘤的罕见肉芽肿表现:病例报告。
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-03-01 Epub Date: 2024-10-31 DOI: 10.4132/jptm.2024.09.27
Henry Goh Di Shen, Yue Zhang, Wei Qiang Leow
{"title":"Uncommon granulomatous manifestation in Epstein-Barr virus-positive follicular dendritic cell sarcoma: a case report.","authors":"Henry Goh Di Shen, Yue Zhang, Wei Qiang Leow","doi":"10.4132/jptm.2024.09.27","DOIUrl":"10.4132/jptm.2024.09.27","url":null,"abstract":"<p><p>Hepatic Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+ IFDCS) represents a rare form of liver malignancy. The absence of distinct clinical and radiological characteristics, compounded by its rare occurrence, contributes to a challenging diagnosis. Here, we report a case of a 54-year-old Chinese female with a background of chronic hepatitis B virus treated with entecavir and complicated by advanced fibrosis presenting with a liver mass found on her annual surveillance ultrasound. Hepatectomy was performed under clinical suspicion of hepatocellular carcinoma. Immunomorphologic characteristics of the tumor were consistent with EBV+ IFDCS with distinct non-caseating granulomatous inflammation. Our case illustrates the importance of considering EBV+ IFDCS in the differential diagnosis of hepatic inflammatory lesions. Awareness of this entity and its characteristic features is essential for accurately diagnosing and managing this rare neoplasm.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":" ","pages":"133-138"},"PeriodicalIF":1.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548261","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}
引用次数: 0
Low Ki-67 labeling index is a clinically useful predictive factor for recurrence-free survival in patients with papillary thyroid carcinoma. 低Ki-67标记指数是临床上有用的预测甲状腺乳头状癌患者无复发生存的因素。
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-03-01 Epub Date: 2025-02-18 DOI: 10.4132/jptm.2024.11.08
Takashi Masui, Katsunari Yane, Ichiro Ota, Kennichi Kakudo, Tomoko Wakasa, Satoru Koike, Hirotaka Kinugawa, Ryuji Yasumatsu, Tadashi Kitahara
{"title":"Low Ki-67 labeling index is a clinically useful predictive factor for recurrence-free survival in patients with papillary thyroid carcinoma.","authors":"Takashi Masui, Katsunari Yane, Ichiro Ota, Kennichi Kakudo, Tomoko Wakasa, Satoru Koike, Hirotaka Kinugawa, Ryuji Yasumatsu, Tadashi Kitahara","doi":"10.4132/jptm.2024.11.08","DOIUrl":"10.4132/jptm.2024.11.08","url":null,"abstract":"<p><strong>Background: </strong>We report a new risk stratification of invasive stage papillary thyroid carcinomas (PTCs) by combining invasive status, using extrathyroid invasion (Ex) status, and tumor growth speed using the Ki-67 labeling index (LI).</p><p><strong>Methods: </strong>We examined tumor recurrence in 167 patients with PTC who were surgically treated at the Kindai University Nara Hospital between 2010 and 2022. The patients were classified according to the degree of invasion [negative (Ex0) or positive (Ex1, Ex2, and Ex3)] and tumor growth speed expressed with Ki-67 LI, as low (<5%) or high (>5%). This study confirmed previous findings that the disease-free survival (DFS) rate in PTCs significantly differed between patients with a high and low Ki-67 index.</p><p><strong>Results: </strong>When combining Ex status (negative or positive) and Ki-67 proliferation status (low or high), the DFS rate of invasion in the negative, low Ki-67 LI group was only 1.1%, while that of invasion in the positive, high Ki-67 LI was 44.1%. This study reports for the first time that recurrence risks can be stratified accurately when combining carcinoma's essential two features of extrathyroid invasion status and tumor growth speed.</p><p><strong>Conclusions: </strong>We believe the evidence for low tumor recurrence risk may contribute to use of more conservative treatment options for invasive-stage PTCs and help alleviate patient anxiety about tumor recurrence and death.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":" ","pages":"115-124"},"PeriodicalIF":1.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442310","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}
引用次数: 0
Characteristics of RET gene mutations in Vietnamese medullary thyroid carcinoma patients: a single-center analysis. 越南甲状腺髓样癌患者RET基因突变特征:单中心分析
IF 1.7
Journal of Pathology and Translational Medicine Pub Date : 2025-03-01 Epub Date: 2025-03-14 DOI: 10.4132/jptm.2025.01.18
Van Hung Pham, Quoc Thang Pham, Minh Nguyen, Hoa Nhat Ngo, Thao Thi Thu Luu, Nha Dao Thi Minh, Trâm Đặng, Anh Tu Thai, Hoang Anh Vu, Dat Quoc Ngo
{"title":"Characteristics of RET gene mutations in Vietnamese medullary thyroid carcinoma patients: a single-center analysis.","authors":"Van Hung Pham, Quoc Thang Pham, Minh Nguyen, Hoa Nhat Ngo, Thao Thi Thu Luu, Nha Dao Thi Minh, Trâm Đặng, Anh Tu Thai, Hoang Anh Vu, Dat Quoc Ngo","doi":"10.4132/jptm.2025.01.18","DOIUrl":"10.4132/jptm.2025.01.18","url":null,"abstract":"<p><strong>Background: </strong>The RET gene point mutation is the main molecular alteration involved in medullary thyroid carcinoma (MTC) tumorigenesis. Previous studies in Vietnam mainly consisted of case reports, with limited data on larger sample sizes. In this study, we investigated RET gene mutations in exons 10, 11, and 16 and analyzed clinicopathological features of a series of Vietnamese MTC patients.</p><p><strong>Methods: </strong>We collected 33 tissue samples from patients with MTC and analyzed RET mutations using the Sanger sequencing method. The relationship between hotspot RET mutations (exons 10, 11, 16) and clinicopathological features were investigated.</p><p><strong>Results: </strong>Among the 33 analyzed cases, 17 tumors (52%) harbored RET mutations in exon 10, 11, or 16. A total of 10 distinct genetic alterations were identified, including eight missense mutations and two short indels. Of these, seven were classified as pathogenic mutations based on previous publications, with p.M918T being the most frequent (4 cases), followed by p.C634R (3 cases) and p.C618R (3 cases). Mutations were significantly associated with specific histological patterns, such as the nested/insular pattern (p=.026), giant cells (p=.007), nuclear pleomorphism (p=.018), stippled chromatin (p=.044), and amyloid deposits (p=.024). No mutations were found in germline analyses, suggesting these were somatic alterations.</p><p><strong>Conclusions: </strong>Our results provided the first comprehensive analysis of RET mutations in Vietnamese MTC patients. The most frequent mutation was p.M918T, followed by p.C634R and p.C618R. Mutations in these three exons were linked to specific histopathological features. Information on mutational profiles of patients with MTC will further aid in the development of targeted therapeutics to ensure effective disease management.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"59 2","pages":"125-132"},"PeriodicalIF":1.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804351","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}
引用次数: 0
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