Article
Oncology
Linwah Yip, William E. Gooding, Alyaksandr Nikitski, Abigail I. Wald, Sally E. Carty, Esra Karslioglu-French, Raja R. Seethala, Dan P. Zandberg, Robert L. Ferris, Marina N. Nikiforova, Yuri E. Nikiforov
Summary: Risk stratification for patients with differentiated thyroid cancer (DTC) based on genetic profiling is accurate and robust, with molecular risk categories showing strong association with distant metastasis (DM) risk. Preoperative prognostication using molecular assays can help tailor treatment for patients with DTC.
Article
Medicine, Research & Experimental
Young Ah Lee, Hyunjung Lee, Sun-Wha Im, Young Shin Song, Do-Youn Oh, Hyoung Jin Kang, Jae-Kyung Won, Kyeong Cheon Jung, Dohee Kwon, Eun-Jae Chung, J. Hun Hah, Jin Chul Paeng, Ji-hoon Kim, Jaeyong Choi, Ok-Hee Kim, Ji Min Oh, Byeong-Cheol Ahn, Lori J. Wirth, Choong Ho Shin, Jong-Il Kim, Young Joo Park
Summary: This study investigated the molecular characteristics of pediatric papillary thyroid cancer (PTC) and identified different genetic drivers, including fusion oncogenes and point mutations. For patients with fusion oncogene PTC, fusion-directed therapy may lead to dramatic tumor responses.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Medicine, General & Internal
Song Soo Kim, Seok-Mo Kim, Mina Park, Sang Hyun Suh, Sung Jun Ahn
Summary: Brain metastases of thyroid cancer are uncommon and often present with hemorrhage. This study found that the strongest predictor for hemorrhage in brain metastases is tumor size, with larger tumors more likely to have intra-tumoral bleeding.
Article
Oncology
Aime T. Franco, Julio C. Ricarte-Filho, Amber Isaza, Zachary Jones, Neil Jain, Sogol Mostoufi-Moab, Lea Surrey, Theodore W. Laetsch, Marilyn M. Li, Jessica Clague DeHart, Erin Reichenberger, Deanne Taylor, Ken Kazahaya, N. Scott Adzick, Andrew J. Bauer
Summary: The study aimed to classify pediatric differentiated thyroid cancer (DTC) into genetic subtypes and investigate the correlation between mutation subtype classification and the risk of metastasis and response to initial therapy. The results showed that mutation-based subtype classification accurately reflects clinical behavior, with patients carrying RET/NTRK fusions having worse outcomes.
JOURNAL OF CLINICAL ONCOLOGY
(2022)
Article
Medicine, Research & Experimental
Evan Jon Propst, Jonathan Daniel Wasserman, Jonah Gorodensky, Bo-Yee Ngan, Nikolaus Ernst Wolter
Summary: This study evaluated patterns and predictors of spread to the neck in pediatric metastatic differentiated thyroid carcinoma. The results showed that patients requiring neck dissection were more likely to have high-risk features, and most patients had no evidence or indeterminate disease on long-term follow-up.
Article
Endocrinology & Metabolism
Sandeep Kumar Parvathareddy, Abdul K. Siraj, Padmanaban Annaiyappanaidu, Nabil Siraj, Maha Al-Rasheed, Wael Al-Haqawi, Zeeshan Qadri, Khawar Siddiqui, Saif S. Al-Sobhi, Fouad Al-Dayel, Khawla S. Al-Kuraya
Summary: Children and young adults with differentiated thyroid cancer are more prone to lung metastasis, especially if they are younger, have specific tumor characteristics, and elevated post-operative thyroglobulin level. Persistent disease post-therapy is common, highlighting the importance of risk adaptive management in this population.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Christine E. Cherella, Ari J. Wassner
Summary: Thyroid cancer is rare in children but its incidence is increasing. Pediatric thyroid cancers have genetic similarities to adult tumors but differ in gene fusions and point mutations. Despite metastatic spread, pediatric thyroid cancer has a good prognosis and low mortality. Important questions remain about treatment approaches, including the need for total thyroidectomy and the risk-benefit balance of radioactive iodine therapy. Molecular therapies targeting genetic drivers are now effective for children with progressive, radioiodine-refractory disease.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Oncology
Elisabetta Macerola, Anello Marcello Poma, Paola Vignali, Alessio Basolo, Clara Ugolini, Liborio Torregrossa, Ferruccio Santini, Fulvio Basolo
Summary: Thyroid tumors derived from follicular cells are heterogeneous in nature, with variable morphological appearance and differentiation levels. Molecular markers play a significant role in both diagnostic and prognostic stratification, especially in the presurgical setting and for identifying genetic alterations related to prognosis. The advent of targeted drugs has further emphasized the importance of molecular characterization in guiding therapeutic strategies for patients with advanced tumors.
Article
Oncology
Han Luo, Xue Liao, Yun Qin, Qianqian Hou, Zhinan Xue, Yang Liu, Feiyang Shen, Yuelan Wang, Yong Jiang, Linlin Song, Haining Chen, Lingyun Zhang, Tao Wei, Lunzhi Dai, Li Yang, Wei Zhang, Zhihui Li, Heng Xu, Jingqiang Zhu, Yang Shu
Summary: The study revealed that mutations in CDK4 and TP53 genes during tumor evolution may contribute to lymph node and brain metastasis in papillary thyroid cancer (PTC).
FRONTIERS IN ONCOLOGY
(2021)
Review
Oncology
Laila C. Roisman, Waleed Kian, Alaa Anoze, Vered Fuchs, Maria Spector, Roee Steiner, Levi Kassel, Gilad Rechnitzer, Iris Fried, Nir Peled, Naama R. Bogot
Summary: Personalized medicine has revolutionized lung cancer treatment by tailoring therapies to individual patients. However, the complexity of clinical aspects such as tumor molecular profile and treatment resistance poses challenges for physicians. The integration of innovative technologies, such as deep learning and radiomics, has the potential to support clinical decision making and precision therapies in lung cancer treatment.
NPJ PRECISION ONCOLOGY
(2023)
Review
Medicine, General & Internal
Ziyang Wang, Xiaoqiu Yuan, Guanchao Jiang, Yun Li, Fan Yang, Jun Wang, Kezhong Chen
Summary: In the era of histopathology-based diagnosis, discriminating multiple lung cancers (MLCs) has become a clinical dilemma. Recent advances in molecular technologies have improved the precision in distinguishing between multiple primary lung cancers (MPLCs) and intrapulmonary metastasis (IPMs). This review summarizes the latest progress in molecular identification of MLCs and compares various methods based on somatic mutations, chromosome alterations, microRNAs, and tumor microenvironment markers. It also discusses current challenges in genomics-based discrimination, including detection technology selection, next-generation sequencing, and intratumoral heterogeneity (ITH). Overall, this paper highlights the importance of entering the primary stage of molecule-based diagnostics.
Article
Medicine, General & Internal
Jun Shang, He Jiang, Yue Zhao, Jinglei Lai, Leming Shi, Jingcheng Yang, Haiquan Chen, Yuanting Zheng
Summary: Through whole-exome sequencing and RNA sequencing analysis of GGO-like lung adenocarcinoma, we identified differences compared to solid nodule lung adenocarcinoma, including lower TP53 mutation frequency and less active cell proliferation-related pathways. We also found differences between GGO-like lung adenocarcinoma and minimally invasive adenocarcinoma in terms of EGFR mutation frequency, CNV load, and immune cell abundance. Finally, we developed a transcriptomic signature that predicts the progression from GGO to solid nodule and patients' prognosis.
Article
Otorhinolaryngology
Chad K. Sudoko, Carolyn M. Jenks, Andrew J. Bauer, Amber Isaza, Sogol Mostoufi-Moab, Lea F. Surrey, Tricia R. Bhatti, Aime Franco, N. Scott Adzick, Ken Kazahaya
Summary: Retrospective cohort study found that in some pediatric patients with unifocal T1a PTC without clinically evident nodal disease, thyroid lobectomy and central neck dissection may be considered. Close observation may be an option if there is no evidence of unilateral multifocality or fewer than 4 positive lymph nodes on postoperative pathology.
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY
(2021)
Article
Oncology
Marco Focaccia, Marco Gambarotti, Rossella Hakim, Anna Paioli, Marilena Cesari, Benedetta Spazzoli, Paolo Spinnato, Davide Donati, Michele Rocca, Alessandra Longhi
Summary: Chondroblastoma is a rare benign chondrogenic tumor that can sometimes metastasize to the lungs, with Denosumab showing effectiveness in controlling these metastases while being safe for young patients.
CANCER RESEARCH AND TREATMENT
(2021)
Review
Medicine, General & Internal
Prerna Guleria, Radhika Srinivasan, Chanchal Rana, Shipra Agarwal
Summary: Thyroid carcinomas are rare but the most common endocrine malignancy in the pediatric population. They have distinct clinical behavior and responses to therapy due to their unique pathology and molecular characteristics. Papillary thyroid carcinoma is the most common and most studied type in children. Other types, such as follicular, poorly differentiated, and medullary carcinomas, are rarer and have limited literature. Most studies come from the West, with Japan being the primary Asian contributor. This review provides a comprehensive account of established and novel biomarkers, as well as discusses familial and syndromic associations. Current management guidelines for pediatric patients are largely based on those for adults, but understanding the molecular landscape is essential for specific diagnostic and therapeutic guidelines.
Article
Dentistry, Oral Surgery & Medicine
Mathew Maria Rose, Shankar Dhamodharan, Govindaswamy Bharath, Kannan Murali, Shanmugam Subbiah, Lakkakula V. K. S. Bhaskar, Avaniyapuram Kannan Murugan, Arasambattu Kannan Munirajan
Summary: This study aimed to investigate the association between linc-ROR genetic variants and tumorigenesis in oral squamous cell carcinoma (OSCC). Four genetic variants of linc-ROR were analyzed in a South Indian population. The results showed that certain variants were significantly associated with advanced tumor grade and nodal metastasis. Linc-ROR expression was also found to be upregulated in the study cohort.
ARCHIVES OF ORAL BIOLOGY
(2022)
Review
Pharmacology & Pharmacy
Siddarth Kannan, Avaniyapuram Kannan Murugan, Sathyamoorthy Balasubramanian, Arasambattu Kannan Munirajan, Ali S. Alzahrani
Summary: Glioma is a common intracranial tumor with poor treatment outcomes. Various gene mutations have been found to play a role in gliomagenesis, while metastasis and therapeutic resistance are crucial in high-grade tumors and low-grade glioma is still a fatal disease.
BIOCHEMICAL PHARMACOLOGY
(2022)
Article
Endocrinology & Metabolism
Ali S. Alzahrani, Meshael Alswailem, Balgees Alghamdi, Hindi Al-Hindi
Summary: This study describes a woman with HLRCC syndrome who presented with aggressive poorly differentiated thyroid cancer. It is the first report to link thyroid cancer with HLRCC syndrome.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Ali S. Alzahrani
Summary: Advancements in molecular genetics have led to diagnostic tests, prognostic markers, and therapeutic agents for thyroid cancer. Genetic alterations in MAPK and PI3K/Akt pathways play a key role in differentiated thyroid cancer. Molecular tests like ThyroSeq v.3, Afirma Gene Sequencing Classifier, and ThyGeNEXT/ThyraMIR have been developed for diagnosing indeterminate thyroid nodules. They have high sensitivities and negative predictive values, reducing unnecessary surgeries. Molecular testing is also important for targeted therapy options and managing advanced disease.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Editorial Material
Endocrinology & Metabolism
Ali S. Alzahrani
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Meshael Alswailem, Balgees Alghamdi, Anwar Alotaibi, Abeer Aljomiah, Hindi Al-Hindi, Avaniyapuram Kannan Murugan, Mohamed Abouelhoda, Yufei Shi, Ali S. Alzahrani
Summary: In this study, the molecular genetics of DSPTC were investigated. It was found that fusion genes were common in DSPTC, while BRAF(V600E) was rare and other common point mutations were absent.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Saad M. Alqahtani, Saif S. Al-Sobhi, Mohammed A. Alturiqy, Riyadh I. Alsalloum, Hindi N. Al-Hindi
Summary: This study aimed to determine the validity of the American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) for predicting malignancy in patients with atypia of undetermined significance (AUS) or follicular lesion of undetermined significance (FLUS). The findings showed that ACR TI-RADS did not contribute to the cancer risk stratification of AUS/FLUS nodules. Further large-scale prospective multi-institutional studies are needed to determine the validity of ACR TI-RADS and explore other potential tools for managing patients with these heterogeneous nodules.
JOURNAL OF TAIBAH UNIVERSITY MEDICAL SCIENCES
(2023)
Article
Endocrinology & Metabolism
Balgees Alghamdi, Hindi Al-Hindi, Avaniyapuram Kannan Murugan, Ali S. Alzahrani
Summary: This case reports multiple tumors found in a patient, including thyroid cancer, gastrointestinal neuroendocrine tumor, adrenal adenoma, meningioma, and breast nodule, likely due to a PMS1 mutation.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Review
Endocrinology & Metabolism
Avaniyapuram Kannan Murugan, Ali S. Alzahrani
Summary: Severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection affects endocrine glands, with the virus using ACE2 as a receptor for cellular entry. This review explores the potential involvement of SARS-CoV-2 in parathyroid disorders, discusses the expression of ACE2 and other molecules in parathyroid cells, and examines the long-term effects on parathyroid function and post-COVID-19 management. Understanding the mechanisms of SARS-CoV-2-triggered pathogenesis in parathyroid dysfunction is crucial for effective treatment and management of infected cases.
Article
Endocrinology & Metabolism
Ali S. Alzahrani, Noha Mukhtar
Summary: This study suggests that age is a strong predictor of biochemically and structurally incomplete responses in patients with intermediate and high-risk DTC. Other factors such as tumor size and distant metastases are also associated with incomplete response.
Article
Endocrinology & Metabolism
Ali S. Alzahrani, Meshael Alswailem, Avaniyapuram Kannan Murugan, Balgees Alghamdi, Hindi Al-Hindi
Summary: This study identified a germline SDHB mutation that resulted in comorbid BRAP(V600E) mutation-positive papillary thyroid cancer (PTC) and TERT promoter mutation-positive paraganglioma (PGL) in a patient. Functional analysis revealed enhanced proliferation in cells with the mutant SDHB allele. These findings suggest a possible association between germline SDHB mutations and increased aggressiveness in PTC and PGL.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Article
Endocrinology & Metabolism
Noha Mukhtar, Ali S. Alzahrani
Summary: Spinal epidural lipomatosis (SEL) is a rare and serious complication of Cushing syndrome (CS) that requires prompt surgical decompression.
Article
Endocrinology & Metabolism
Ali S. Alzahrani, Meshael Alswailem, Balgees Alghamdi, Rafiullah Rafiullah, Mohammed Aldawish, Hindi Al-Hindi
Summary: RET p.V804M mutation is classified as a moderate risk mutation for familial medullary thyroid cancer (FMTC), typically associated with late-onset but potentially aggressive MTC in middle to old age. Significant interfamilial heterogeneity in presentation is observed, indicating the need for follow-up and timely intervention based on calcitonin level elevation.