Katie Glasgow, Victoria Jiminez, Natalie Garcia, Andrea Gillis
A man, in his 30s, with a history of obesity and hypothyroidism planned to begin taking a new Glucagon-like peptide-1 (GLP-1) agonist for weight loss. As these medications have been associated with C-cell hyperplasia, a calcitonin level was checked as evaluation prior to starting the drug. This returned at 131 pg/mL (upper limit of normal<10 pg/mL), and a subsequent carcinoembryonic antigen was 5.2 ng/mL (ref<3 ng/mL). Thyroid ultrasound was performed and demonstrated bilateral subcentimeter nodules. After total thyroidectomy, final pathology demonstrated bilateral 0...
June 30, 2024: Heliyon
Teppei Yamaguchi, Junichi Shimizu, Reiko Matsuzawa, Naohiro Watanabe, Yoshitsugu Horio, Yutaka Fujiwara
BACKGROUND: Targeted therapy is now the standard of care in driver-oncogene-positive non-small cell lung cancer (NSCLC). Its initial clinical effects are remarkable. However, almost all patients experience treatment resistance to targeted therapy. Hence, chemotherapy is considered a subsequent treatment option. In patients with driver-oncogene-negative NSCLC, combined immune checkpoint inhibitors (ICIs) and chemotherapy as the first-line therapy has been found to be beneficial. However, the efficacy of ICI plus chemotherapy against driver-oncogene-positive NSCLC other than epidermal growth factor receptor mutation and anaplastic lymphoma kinase fusion is unclear...
July 15, 2024: BMC Cancer
Andreas Machens, Kerstin Lorenz, Frank Weber, Henning Dralle
PURPOSE: No genomic data have been put forth that prove beyond a shadow of doubt that sporadic medullary thyroid cancer (MTC) occurs in infancy, childhood, and/or adolescence. METHODS: This was a retrospective comparative study of consecutive patients with MTC who had neck surgery at a tertiary center over a 30-year period. RESULTS: Included were 1252 patients with MTC (337 hereditary and 915 sporadic), of whom 107 (8.5%) were operated before the age of 18 yrs...
July 14, 2024: Endocrine
ErinMarie O Kimbrough, Julian A Marin-Acevedo, Leylah M Drusbosky, Ariana Mooradian, Yujie Zhao, Rami Manochakian, Yanyan Lou
Genomic mutations impact non-small cell lung cancer (NSCLC) biology. The influence of sex and age on the distribution of these alterations is unclear. We analyzed circulating-tumor DNA from individuals with advanced NSCLC from March 2018 to October 2020. EGFR , KRAS , ALK , ROS1 , BRAF , NTRK , ERBB2 , RET , MET , PIK3CA , STK11 , and TP53 alterations were assessed. We evaluated the differences by sex and age (<70 and ≥70) using Fisher's exact test. Of the 34,277 samples, 30,790 (89.83%) had a detectable mutation and 19,923 (58...
June 27, 2024: Cancers
Tianhong Li, Weijie Ma, Ebaa Al-Obeidi
First-line systemic therapy for patients with advanced or metastatic non-small cell lung cancer (NSCLC) has rapidly evolved over the past two decades. First, molecularly targeted therapy for a growing number of gain-of-function molecular targets has been shown to improve progression-free survival (PFS) and overall survival (OS) with favorable toxicity profiles compared to platinum-containing chemotherapy and can be given as first-line systemic therapy in ~25% of patients with NSCLC. Actionable genetic alterations include EGFR, BRAF V600E, and MET exon 14 splicing site-sensitizing mutations, as well as ALK-, ROS1-, RET-, and NTRK-gene fusions...
June 26, 2024: Cancers
Alexander J Papachristos, Hazel Serrao-Brown, Anthony J Gill, Roderick Clifton-Bligh, Stanley B Sidhu
In this review, we explore the underlying molecular biology of medullary thyroid carcinoma (MTC) and its interplay with the host immune system. MTC is consistently driven by a small number of specific pathogenic variants, beyond which few additional genetic events are required for tumorigenesis. This explains the exceedingly low tumour mutational burden seen in most MTC, in contrast to other cancers. However, because of the low tumour mutational burden (TMB), there is a correspondingly low level of tumour-associated neoantigens that are presented to the host immune system...
June 22, 2024: Cancers
Monica F Chen, Matteo Repetto, Clare Wilhelm, Alexander Drilon
While activating RET fusions are identified in various cancers, lung cancer represents the most common RET fusion-positive tumor. The clinical drug development of RET inhibitors in RET fusion-positive lung cancers naturally began after RET fusions were first identified in patient tumor samples in 2011, and thereafter paralleled drug development in RET fusion-positive thyroid cancers. Multikinase inhibitors were initially tested with limited efficacy and substantial toxicity. RET inhibitors were then designed with improved selectivity, central nervous system penetrance, and activity against RET fusions and most RET mutations, including resistance mutations...
July 13, 2024: Drugs
Yunfang Yu, Wenhao Ouyang, Yunxi Huang, Hong Huang, Zehua Wang, Xueyuan Jia, Zhenjun Huang, Ruichong Lin, Yue Zhu, Yisitandaer Yalikun, Langping Tan, Xi Li, Fei Zhao, Zhange Chen, Wenting Li, Jianwei Liao, Herui Yao, Miaoyun Long
BACKGROUND: Papillary thyroid carcinoma (PTC) is the predominant form of thyroid cancer globally, especially when lymph node metastasis (LNM) occurs. Molecular heterogeneity, driven by genetic alterations and tumor microenvironment components, contributes to the complexity of PTC. Understanding these complexities is essential for precise risk stratification and therapeutic decisions. METHODS: This study involved a comprehensive analysis of 521 patients with PTC from our hospital and 499 patients from The Cancer Genome Atlas (TCGA)...
July 11, 2024: International Journal of Surgery
Sheng Lu, Aotian Guo, Haichuan Hu, Xinxin Ying, Yao Li, Zhengwei Huang, Wangjue Xu, Shen Tao, Xiaotong Hu, Na Yan, Xuan Zhang, Dan Shen, Takaaki Sasaki, Surein Arulananda, Ken Onodera, Zhengfu He
BACKGROUND: Driver genes are essential predictors of targeted therapeutic efficacy. Detecting driver gene mutations in lung adenocarcinoma (LUAD) patients can help to screen for targeted drugs and improve patient survival benefits. This study aims to investigate the mutation characterization of driver genes and their correlation with clinicopathological features in LUAD. METHODS: A total of 440 LUAD patients were selected from Sir Run Run Shaw Hospital between July 2019 and September 2022...
June 30, 2024: Translational Lung Cancer Research
Evgeny N Imyanitov, Elena V Preobrazhenskaya, Sergey V Orlov
The management of lung cancer (LC) requires the analysis of a diverse spectrum of molecular targets, including kinase activating mutations in EGFR , ERBB2 ( HER2 ), BRAF and MET oncogenes, KRAS G12C substitutions, and ALK , ROS1 , RET and NTRK1-3 gene fusions. Administration of immune checkpoint inhibitors (ICIs) is based on the immunohistochemical (IHC) analysis of PD-L1 expression and determination of tumor mutation burden (TMB). Clinical characteristics of the patients, particularly age, gender and smoking history, significantly influence the probability of finding the above targets: for example, LC in young patients is characterized by high frequency of kinase gene rearrangements, while heavy smokers often have KRAS G12C mutations and/or high TMB...
2024: Exploration of targeted anti-tumor therapy
Qian Zhang, Kaiyan Chen, Xiaoqing Yu, Yun Fan
In patients with non-small cell lung cancer (NSCLC), oncogenic variants present in <5% of cases are considered rare, the predominant of which include human epidermal growth factor receptor 2 (HER2) mutations, mesenchymal-epithelial transition (MET) alterations, c-ros oncogene 1 (ROS1) rearrangements, rearrangement during transfection (RET) fusions, v-raf mouse sarcoma virus oncogene homolog B1 (BRAF) mutations, and neurotrophic troponin receptor kinase (NTRK) fusions. Brain metastases (BMs) occur in approximately 10%-50% of patients with NSCLC harboring rare genetic variants...
July 3, 2024: International Journal of Cancer. Journal International du Cancer
László József Tóth, Attila Mokánszki, Gábor Méhes
Lung cancer is a leading cause of cancer-related death worldwide in both men and women, however mortality in the US and EU are recently declining in parallel with the gradual cut of smoking prevalence. Consequently, the relative frequency of adenocarcinoma increased while that of squamous and small cell carcinomas declined. During the last two decades a plethora of targeted drug therapies have appeared for the treatment of metastasizing non-small cell lung carcinomas (NSCLC). Personalized oncology aims to precisely match patients to treatments with the highest potential of success...
2024: Pathology Oncology Research: POR
Rodrigo de Oliveira Cavagna, Flávia Escremim de Paula, Gustavo Noriz Berardinelli, Murilo Bonatelli, Iara Santana, Eduardo Caetano Albino da Silva, Gustavo Ramos Teixeira, Beatriz Garbe Zaniolo, Josiane Mourão Dias, Flávio Augusto Ferreira da Silva, Carlos Eduardo Baston Silva, Marcela Gondim Borges Guimarães, Camila Pinto Barone, Alexandre Arthur Jacinto, Rachid Eduardo Noleto da Nóbrega Oliveira, José Elias Miziara, Pedro De Marchi, Miguel A Molina-Vila, Letícia Ferro Leal, Rui Manuel Reis
INTRODUCTION: Lung cancer in never-smoker (LCINS) patients accounts for 20% of lung cancer cases, and its biology remains poorly understood, particularly in genetically admixed populations. We elucidated the molecular profile of driver genes in Brazilian LCINS. METHODS: The mutational and gene fusion status of 119 lung adenocarcinomas from self-reported never-smoker patients, was assessed using targeted sequencing (NGS), nCounter, and immunohistochemistry. A panel of 46 ancestry-informative markers determined patients' genetic ancestry...
June 29, 2024: Oncologist
Shuyi Chen, Jing Gu, Kaichun Wu, Xiaodi Zhao, Yuanyuan Lu
Targeted therapy is crucial for advanced colorectal cancer (CRC) positive for genetic drivers. With advances in deep sequencing technology and new targeted drugs, existing standard molecular pathological detection systems and therapeutic strategies can no longer meet the requirements for careful management of patients with advanced CRC. Thus, rare genetic variations require diagnosis and targeted therapy in clinical practice. Rare gene mutations, amplifications, and rearrangements are usually associated with poor prognosis and poor response to conventional therapy...
June 15, 2024: Cancer Biology & Medicine
Luvy Delfin, Jan Johannes Doff, Jeffrey Gagan, Allen Flack, Jeffrey F Krane, Vickie Y Jo, Alan G Torell, Doreen Palsgrove, Justin A Bishop
BACKGROUND: Intraductal carcinoma (IDC) of the salivary glands is a confounding entity, our understanding of which continues to evolve. At least four forms have been elucidated based on histomorphology, immunophenotype, and molecular profile: (1) intercalated duct-like, S100/SOX10+ with frequent NCOA4::RET fusions; (2) oncocytic, S100/SOX10+ with TRIM33::RET, NCOA4::RET, and BRAF V600E; (3) apocrine, AR+ with PI3 kinase pathway mutations; and (4) mixed/hybrid intercalated duct-like/apocrine, with S100/SOX10+ and AR+ areas and frequent TRIM27::RET...
June 27, 2024: Head and Neck Pathology
Daqi Zhang, Nan Liang, Hui Sun, Francesco Frattini, Chengqiu Sui, Mingyu Yang, Hongbo Wang, Gianlorenzo Dionigi
Medullary thyroid carcinoma (MTC) accounts for only 3% of all thyroid carcinomas: 75% as sporadic MTC (sMTC) and 25% as hereditary MTC (hMTC) in the context of multiple endocrine neoplasia type 2 (MEN2). Early diagnosis is possible by determining the tumour marker calcitonin (Ctn) when clarifying nodular goitre and by detecting the mutation in the proto-oncogene RET in the MEN2 families. If the Ctn level is only slightly elevated, up to 30 pg/ml in women and up to 60 pg/ml in men, follow-up checks are advisable...
2024: Frontiers in Endocrinology
Cheng-Yin Liu, Chia-Hsin Liu
RET rearrangements are recognized drivers in lung cancer, representing a small subset (1-2%) of non-small cell lung cancer (NSCLC). Additionally, RET fusions also serve as a rare acquired resistance mechanism in EGFR -mutant NSCLC. Only a few NSCLC cases have been reported with co-occurrence of EGFR mutations and RET fusions as an acquired resistance mechanism induced by EGFR-tyrosine kinase inhibitors (TKIs). A 68-year-old man diagnosed with lung adenocarcinoma harboring EGFR L858R mutation initially responded well to dacomitinib, a second-generation EGFR-tyrosine kinase inhibitor (TKI)...
2024: OncoTargets and Therapy
Yuguo Wang, Hui Wang, Gongxun Tan, Xinping Wu, Bin Wang, Zhihan Tan, Jing Du, Xiuying Li, Ying Xu, Na Yan, Xiaoqin Qian
OBJECTIVES: Thyroid cancer rarely occurs in children and adolescents. Molecular markers such as BRAF , RAS , and RET/PTC have been widely used in adult PTC. It is currently unclear whether these molecular markers have equivalent potential for application in pediatric patients. This study aims to explore the potential utility of a multi-gene conjoint analysis based on next-generation targeted sequencing for pediatric papillary thyroid carcinoma (PTC). MATERIALS AND METHODS: The patients diagnosed with PTC (aged 18 years or younger) in the pediatrics department of Lishui District Hospital of Traditional Chinese Medicine were retrospectively screened...
2024: Frontiers in Endocrinology
Tim Brandenburg, Matthias Kroiß
The molecular pathogenesis of thyroid carcinoma is well studied and of importance for the treatment of advanced stages. Differentiated, poorly differentiated and anaplastic carcinomas originate in the follicular cells, while medullary carcinomas derive from the C‑cells. The prognosis of differentiated thyroid carcinoma is generally very favourable after surgery and radioiodine therapy. Where tumours progress and lose the ability to enrich iodine, curative treatment is usually not possible. A strategy of watchful waiting is often appropriate...
July 2024: Inn Med (Heidelb)
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