Article
Medicine, General & Internal
Yun-Suk Choi, Seong-Woon Choi, Jin-Wook Yi
Summary: This study identified TERT promoter mutations in PTC and found that they are associated with more aggressive behavior. Patients with TERT promoter mutations were older, had larger tumors, and exhibited other adverse clinical features, resulting in a poorer prognosis compared to those with wild-type TERT gene status.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Tomoe Nakao, Michiko Matsuse, Vladimir Saenko, Tatiana Rogounovitch, Aya Tanaka, Keiji Suzuki, Miyoko Higuchi, Hisanori Sasai, Tsutomu Sano, Mitsuyoshi Hirokawa, Akira Miyauchi, Atsushi Kawakami, Norisato Mitsutake
Summary: The study found a high concordance rate of TERT-p mutations between preoperative fine-needle aspiration samples and postoperative formalin-fixed and paraffin-embedded specimens in papillary thyroid carcinomas (PTCs) aged 55 years or older. The TERT-p mutation was significantly associated with age, tumor size, extrathyroidal extension, and the Ki-67 labelling index in both FNA and FFPE samples, indicating potential clinical utility in predicting disease aggressiveness and guiding PTC management.
CLINICAL ENDOCRINOLOGY
(2021)
Article
Oncology
Rong Bu, Abdul K. Siraj, Tariq Masoodi, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Maha Al-Rasheed, Wael Haqawi, Mark Diaz, Ingrid G. Victoria, Saud M. Aldughaither, Saif S. Al-Sobhi, Fouad Al-Dayel, Khawla S. Al-Kuraya
Summary: This study evaluated the prevalence of MAP2K1 mutations in PTC and CRC in the Middle Eastern population, finding rates of 1.1% and 0.9%, respectively, in MAPK wildtype cases. The mutually exclusive nature of MAP2K1 and MAPK mutations suggests that they may function as initiating mutations in tumorigenesis.
FRONTIERS IN ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Yangsen Li, Yuanyuan Wang, Liwen Li, Xinguang Qiu
Summary: This study reviewed the clinical significance of BRAFV600E mutations in pediatric papillary thyroid carcinoma. The mutation rate was found to be 57.4%, with a higher incidence in boys and the older age group. The positivity rate of BRAFV600E was significantly higher in unilateral PTC compared to bilateral PTC, and there was a negative correlation between BRAFV600E mutations and diffuse microcalcification of the thyroid. BRAFV600E mutations were more common in patients with smaller tumor size, a lack of multifocality, lower TSH levels, and central lymph node metastasis.
SCIENTIFIC REPORTS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jingjia Cao, Xiaolu Zhu, Yaru Sun, Xiao Li, Canhua Yun, Wei Zhang
Summary: This study found that BRAF V600E and TERT promoter mutations are significantly correlated with poor curative effect of radioiodine therapy in papillary thyroid cancer.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2022)
Article
Oncology
Elisabetta Macerola, Agnese Proietti, Anello Marcello Poma, Clara Ugolini, Liborio Torregrossa, Paola Vignali, Alessio Basolo, Gabriele Materazzi, Rossella Elisei, Ferruccio Santini, Fulvio Basolo
Summary: Pediatric papillary thyroid carcinoma (PTC) differs from adult PTC in clinical, pathological, and molecular aspects. In this study, fusion-driven PTCs in pediatric patients showed more aggressive features compared to mutation-driven and wild-type cases. Testing for gene rearrangements, especially in tumors with solid areas, can improve characterization and possibly offer therapeutic options for pediatric PTCs.
Article
Oncology
Daniel W. Scholfield, Conall W. Fitzgerald, Bayan Alzumaili, Alana Eagan, Bin Xu, German Martinez, R. Michael Tuttle, Ashok R. Shaha, Jatin P. Shah, Richard J. Wong, Snehal G. Patel, Ronald A. Ghossein, Ian Ganly
Summary: This study compared the clinicopathological characteristics and oncological outcomes of diffuse sclerosing papillary thyroid carcinoma (DS-PTC) to classic PTC (cPTC) and tall cell PTC (TC-PTC). The results showed that DS-PTC patients were younger with more advanced disease and aggressive histopathological features. DS-PTC had lower 5-year recurrence-free survival but excellent disease-specific survival with successful salvage surgery.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Adam Stenman, Samuel Backman, Klara Johansson, Johan O. Paulsson, Peter Stalberg, Jan Zedenius, C. Christofer Juhlin
Summary: Pediatric papillary thyroid carcinomas (pPTCs) are typically indolent tumors with stable genetic profiles. However, clinically aggressive cases may exhibit unique molecular features. Metastatic samples may harbor novel genetic events driving metastasis, suggesting early clonal divergence between primary tumors and metastases. Fusion-driven and mutation-driven pPTC cases show distinct genetic characteristics.
ENDOCRINE-RELATED CANCER
(2021)
Article
Biochemistry & Molecular Biology
Irena Ivkovic, Zgjim Limani, Antonia Jakovcevic, Srecko Gajovic, Sven Seiwerth, Ana Danic Hadzibegovic, Drago Prgomet
Summary: By analyzing tissue samples from 146 patients with papillary thyroid cancer, we found that the BRAF V600E mutation and CPSF2 protein expression are associated with recurrence and disease-free survival. Patients with low CPSF2 protein expression and the BRAF V600E mutation were at higher risk for recurrence, while patients with high CPSF2 protein expression had longer disease-free survival. These findings provide important prognostic factors for papillary thyroid cancer.
Article
Oncology
Lorenza Mautone, Carlo Ferravante, Anna Tortora, Roberta Tarallo, Giorgio Giurato, Alessandro Weisz, Mario Vitale
Summary: Integrins, as cell-extracellular matrix adhesion molecules, play a key role in cancer metastasis. In papillary thyroid carcinoma patients, integrin expression is associated with histopathology, driver gene mutations, and disease aggressiveness, with ITGA3 subunit showing the highest correlation with disease progression.
Article
Endocrinology & Metabolism
Shenghui Ge, Junyu Zhao, Jinming Yao, Hang Fu, Yutian Tian, Yuanyuan Shan, Mengli Sun, Jing Feng, Jianjun Dong, Lin Liao
Summary: This study investigated the relationship between serum selenium levels and papillary thyroid cancer (PTC) in a Chinese population. The results showed that serum selenium levels were lower in female PTC patients compared to males, and high serum selenium levels may be a protective factor for PTC patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Oncology
Min Jhi Kim, Jin Kyong Kim, Gi Jeong Kim, Sang-Wook Kang, Jandee Lee, Jong Ju Jeong, Woong Youn Chung, Daham Kim, Kee-Hyun Nam
Summary: TERT promoter mutation, investigated for its clinical and prognostic significance in aggressive PTC, showed the lowest prevalence in Korea among a large cohort of PTC patients. The presence of TERT promoter mutations consistently correlated with aggressive PTCs, with a synergistic effect when coexisting with BRAF V600E mutation. Further prospective multicenter studies are needed to establish valuable oncologic outcomes.
Article
Endocrinology & Metabolism
Michiko Matsuse, Norisato Mitsutake
Summary: TERT promoter mutations have been identified as crucial factors in tumor progression, as they upregulate TERT transcription and contribute to the unlimited proliferative capacity of tumor cells. In differentiated thyroid carcinoma, these mutations are associated with high-risk clinicopathological aggressiveness and worse prognosis, making them the best molecular marker for predicting tumor aggressiveness to date. This review provides a summary of recent findings regarding TERT promoter mutations and their functional/mechanistic aspects.
Article
Oncology
Ga Hyun Kim, Hye Jin Heo, Ji Wan Kang, Eun-Kyung Kim, Seung Eun Baek, Keunyoung Kim, In Joo Kim, Sunghwan Suh, Byung-Joo Lee, Yun Hak Kim, Kyoungjune Pak
Summary: This study identified TEK and AXIN2 as potential factors involved in the multifocality of papillary thyroid carcinoma (PTC). In vitro experiments showed that inhibiting TEK and AXIN2 reduced the proliferation and migration of PTC cells. Additionally, serum TEK may serve as a diagnostic marker for multifocal PTC.
CANCER CELL INTERNATIONAL
(2022)
Article
Endocrinology & Metabolism
Vitor Rodrigues da Costa, Larissa Valdemarin Bim, Luiza Dornelles Penteado e Silva, Gabriel Avelar Colloza-Gama, Andre Uchimura Bastos, Rosana Delcelo, Gisele Oler, Janete Maria Cerutti
Summary: This study compared three different strategies to detect TERT promoter mutations in PTC, finding good concordance among the methodologies when a high percentage of mutated alleles was present. Sanger sequencing showed a limitation in detection of mutated alleles, indicating that the prevalence of TERT promoter mutations in PTC may be higher than previously reported.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Yongbo Yu, Wei Liu, Min Chen, Yang Yang, Yeran Yang, Enyu Hong, Jie Lu, Jun Zheng, Xin Ni, Yongli Guo, Jie Zhang
MOLECULAR GENETICS & GENOMIC MEDICINE
(2020)
Article
Biology
Yaqiong Jin, Jin Shi, Huanmin Wang, Jie Lu, Chenghao Chen, Yongbo Yu, Yaru Wang, Yeran Yang, Dong Ren, Qi Zeng, Xin Ni, Yongli Guo
Summary: The study found that the DDX1 gene polymorphism rs72780850 is associated with an increased risk of NB, especially in aggressive cases. This association may be due to the regulation of DDX1 gene expression affecting tumor risk. Additionally, the molecular mechanism of the rs72780850 polymorphism leading to increased NB risk may be related to the binding affinity of the MAX transcription factor.
SCIENCE CHINA-LIFE SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Yongbo Yu, Feng Chen, Yaqiong Jin, Yeran Yang, Shengcai Wang, Jie Zhang, Chenghao Chen, Qi Zeng, Wei Han, Huanmin Wang, Yongli Guo, Xin Ni
ACTA BIOCHIMICA POLONICA
(2020)
Article
Pediatrics
Shengcai Wang, Lin Mei, Yanzhen Li, Xuexi Zhang, Jie Zhang, Wentong Ge, Yongli Guo, Yongbo Yu, Guoli Wang, Tianlu Mei, Qiaoyin Liu, Nian Sun, Yuzhu He, Xiaodan Li, Yuwei Liu, Jun Tai, Xin Ni
Summary: This study found that gastroscopy under local anesthesia has high sensitivity and accuracy in diagnosing congenital pyriform sinus fistula, especially for patients with inflammation subsiding for more than 4 weeks.
FRONTIERS IN PEDIATRICS
(2021)
Article
Pediatrics
Yongbo Yu, Shengcai Wang, Xuexi Zhang, Shuai Xu, Yanzhen Li, Qiaoyin Liu, Yeran Yang, Nian Sun, Yuanhu Liu, Jie Zhang, Yongli Guo, Xin Ni
Summary: This study demonstrates that TPO and AOX1 are significantly downregulated in pediatric PTC, with decreased levels of TPO and AOX1 proteins in blood plasma. These proteins show satisfactory predictive performance in plasma and low levels are associated with poor survival in patients with PTC. The findings suggest that TPO and AOX1 could serve as novel biomarkers for the diagnosis and prognosis of pediatric PTC.
TRANSLATIONAL PEDIATRICS
(2021)
Article
Genetics & Heredity
Yeran Yang, Jiwei Chen, Hong Qin, Yaqiong Jin, Li Zhang, Shen Yang, Huanmin Wang, Libing Fu, Enyu Hong, Yongbo Yu, Jie Lu, Yan Chang, Xin Ni, Min Xu, Tieliu Shi, Yongli Guo
Summary: The study identified a novel germline compound heterozygous mutation of the BRCA2 gene associated with familial PNTs, potentially promoting carcinogenesis by disrupting the DNA damage and response signal pathway.
FRONTIERS IN GENETICS
(2021)
Article
Pathology
Meng Zhang, Yongbo Yu, Xiaoxing Guan, Xingfeng Yao, Chao Jia, Enyu Hong, Yongli Guo, Lejian He
Summary: This study describes four cases of sclerosing epithelioid fibrosarcoma (SEF) in children with unique genetic characteristics. The tumors were located in the deep soft tissue and exhibited prominent sclerotic hyalinized stroma and monomorphic epithelioid cells. Genetic analysis revealed translocation between EWSR1 and CREB3L1, as well as amplification of fusion parts, indicating the presence of a unique molecular variant of SEF.
PATHOLOGY RESEARCH AND PRACTICE
(2022)
Article
Immunology
Ping Chu, Yan Chang, Xuan Zhang, Shujing Han, Yaqiong Jin, Yongbo Yu, Yeran Yang, Guoshuang Feng, Xinyu Wang, Ying Shen, Xin Ni, Yongli Guo, Jie Lu
Summary: Pediatric extrapulmonary tuberculosis (EPTB) in China has not been well studied in terms of clinical characteristics and economic burden. This multicenter study aimed to investigate and summarize the situation of EPTB in pediatric patients. The results showed differences between EPTB, pulmonary TB (PTB), and combined TB in terms of hospitalization frequency, length of stay, discharge against medical advice, mortality, low birth weight, diagnosis at the first visit, and hospitalization plan situation. EPTB and combined TB had higher financial burdens compared to PTB.
EMERGING MICROBES & INFECTIONS
(2022)
Article
Oncology
Xiangjun Liu, Mengmiao Pei, Yongbo Yu, Xiaolin Wang, Jingang Gui
Summary: The tumor metastasis in high-risk neuroblastoma patients is a significant problem that affects patient survival. This study utilized comprehensive bioinformatics analysis to identify LPAR1 as a potential target for the treatment of neuroblastoma. The decreased expression of LPAR1 in neuroblastoma cells and the migration-inhibitory effects of LPA-LPAR1 axis suggest that LPAR1 may be a promising target for future neuroblastoma treatment.
Article
Pathology
Meng Zhang, Xingfeng Yao, Xiaoxing Guan, Chao Jia, Ruqian Zhang, Huanmin Wang, Yongli Guo, Xin Ni, Yongbo Yu, Lejian He
Summary: Clear cell sarcoma of the kidney (CCSK) is often associated with TP53 deletion, which is related to adverse clinical outcomes. A study analyzed 39 CCSK patients and found that 87.18% of patients had BCOR internal tandem duplication (ITD), 2.56% had YWHAE rearrangement, and 2.56% had BCOR-CCNB3 gene fusion. Furthermore, 25.64% of patients had TP53 aberration, and patients with both BCOR ITD and TP53 deletion had the poorest prognosis.
Article
Biochemical Research Methods
Chiyi Jiang, Yeran Yang, Sidou He, Zhixia Yue, Tianyu Xing, Ping Chu, Wenfa Yang, Hui Chen, Xiaoxi Zhao, Yongbo Yu, Xuan Zhang, Yan Su, Yongli Guo, Xiaoli Ma
Summary: This study evaluated the important role of BPTF in bone marrow (BM) in predicting the progression of neuroblastoma (NB). It was found that BPTF is an independent risk factor for predicting NB progression. The BPTF inhibitor AU1 is expected to become a new targeted drug for NB therapy, revealing previously unknown mechanisms of BPTF in NB cell proliferation and metastasis through TFAP4 and PI3K/AKT pathways.
BIOLOGICAL PROCEDURES ONLINE
(2023)
Article
Oncology
Xuan Zhang, Shijia Zhan, Xiaoxing Guan, Yanli Zhang, Jie Lu, Yongbo Yu, Yaqiong Jin, Yeran Yang, Ping Chu, Enyu Hong, Hui Yang, Huimin Ren, Di Geng, Yadi Wang, Pingping Zhou, Yongli Guo, Yan Chang
Summary: High-risk neuroblastoma (HR-NB) is an aggressive childhood cancer with a low survival rate. MYCN amplification is a critical factor in these tumors, but there are no approved treatments targeting MYCN. The identification of new molecular targets and therapeutic strategies is urgently needed.
Correction
Chemistry, Medicinal
Yongbo Yu, Junchao Duan, Weijia Geng, Qiuling Li, Lizhen Jiang, Yang Li, Yang Yu, Zhiwei Sun
CHEMICAL RESEARCH IN TOXICOLOGY
(2023)
Article
Pathology
Yongbo Yu, Meng Zhang, Xingfeng Yao, Xiaoxing Guan, Chao Jia, Ping Chu, Ruqian Zhang, Yeran Yang, Yaqiong Jin, Huanmin Wang, Xin Ni, Lejian He, Yongli Guo
Summary: Recently, TERT gene rearrangements have been found in neuroblastoma (NB), but their prevalence in other types of neuroblastic tumours (NTs) is unknown. This study developed a practical method for detecting TERT defects and evaluated their clinical relevance as biomarkers for NT prognosis. The study used fluorescence in situ hybridisation (FISH) to assess TERT genomic status in Chinese children with NTs. TERT rearrangements were identified in 6.0% of NTs overall, and in 12.4% of high-risk patients. TERT rearrangements were associated with aggressive NT subtypes and decreased survival chances.
JOURNAL OF PATHOLOGY CLINICAL RESEARCH
(2023)
Article
Pediatrics
Yeran Yang, Wei Liu, Yaqiong Jin, Min Chen, Jie Lu, Yongbo Yu, Huimin Ren, Shujing Han, Ping Chu, Yongli Guo, Jie Zhang, Xin Ni
Summary: This study identified genetic mutations associated with FBCA in Chinese children, revealing potential pathogenic genes and mutations involved in developmental pathways. The results provide molecular-level support for the branchial theory of FBCA pathogenesis.
PEDIATRIC INVESTIGATION
(2021)