Mohiuddin M Taher, Najwa A Bantan, Mustafa H Alwalily, Muhammad Saeed, Nuha M Taher, Meriem Bouzidi, Raid A Jastania, Kamal B Balkhoyour
The present study aimed to determine genomic changes in sporadic intracranial hemangioblastoma (HBL), and the mutation patterns were analyzed using next-generation DNA sequencing (NGS). In this NGS analysis of the HBL tumor, 67 variants of 41 genes were identified. Of these, 64 were single-nucleotide variants (SNVs), two were exonic insertions and deletions (INDEL), and one was an intronic INDEL. In total, 15 were missense exonic variants, including an insertion variant in the NRAS gene, c...
June 2023: Curēus
Lin Wu, Ying Cheng, Dingzhi Huang, Yuping Sun, Chengzhi Zhou, Jianying Zhou, Ye Guo, Jingxin Shao, Wanli Zhang, Shun Lu
Rearranged during transfection (RET) fusions and epidermal growth factor receptor (EGFR) mutations are potent oncogenic drivers in patients with nonsmall cell lung cancer (NSCLC), but rarely co-exist. Concurrent RET/EGFR mutations have been reported in patients with NSCLC who develop resistance to EGFR tyrosine kinase inhibitors but are even less frequent in treatment-naïve patients. Consequently, there is no standard treatment for RET/EGFR-mutated NSCLC. We report a case of RET/EGFR mutant NSCLC successfully treated with the oral, potent, highly selective RET inhibitor selpercatinib (160 mg daily for 28-day cycles) in an ongoing phase II study in Chinese patients with NSCLC (LIBRETTO-321)...
June 2, 2023: Anti-cancer Drugs
Ruoxue Cai, Hongyu Zhu, Ying Liu, Huanhuan Sha, Weiwei Peng, Rong Yin, Guoren Zhou, Ying Fang
INTRODUCTION: Lung cancer is one of primary cancer type with high incidence and mortality, non-small cell lung cancer (NSCLC) is the most common type of lung cncer. For advanced lung cancer, traditional chemotherapy and targeted therapy become difficult to solve the dilemma of further progress. In recent years, with the clinical application of immunotherapy, the therapeutic strategy of lung cancer has changed dramatically. At present, immunotherapy has shown conspicuous efficacy in NSCLC patients with high expression of programmed death-ligand 1 (PD-L1) and high tumor mutational burden (TMB)...
June 1, 2023: Journal of Cancer Research and Clinical Oncology
Bin Jiang, Liwen Hu, Daling Dong, Zixin Guo, Wei Wei, Chao Wang, Weikang Shao, Ting Ma, Yanhui Chen, Qingyun Li, Weidong Hu
INTRODUCTION: ALK-rearranged lung adenocarcinomas with TP53 mutations have more unstable genomic features, poorer ALK-TKI efficacy and a worse prognosis than ALK-rearranged lung adenocarcinomas with wild-type TP53. Here, we examine the gene variations that co-occur with ALK/RET/ROS1 rearrangements in NSCLC and the corresponding tumor immune microenvironment, as well as their association with prognosis. METHODS: A total of 155 patients with ALK/RET/ROS1 fusions were included retrospectively...
June 1, 2023: Journal of Cancer Research and Clinical Oncology
Talia N Shoshany, Christopher J Rapuano, Tatyana Milman
PURPOSE: To report a patient with conjunctival and buccal neuromas and enlarged corneal nerves without Multiple Endocrine Neoplasia 2B (MEN2B). OBSERVATIONS: A 28-year-old female presented with progressively enlarging bilateral limbal conjunctival growths. Slit lamp examination was notable for enlarged corneal nerves and well-circumscribed gelatinous subepithelial limbal nodules. Systemic examination revealed similar lesions on the tongue. Conjunctival biopsy demonstrated a mucosal neuroma...
June 2023: American Journal of Ophthalmology Case Reports
Yoko Onodera, Akimasa Sekine, Eri Hagiwara, Sho Yamada, Satoshi Ikeda, Erina Tabata, Hideya Kitamura, Tomohisa Baba, Shigeru Komatsu, Koji Okudela, Takashi Ogura
Patients with non-small cell lung cancer (NSCLC) are often positive for oncogenic driver mutations, such as EGFR, ALK, BRAF, RET and MET exon 14 skipping mutations (METex14 skipping). Recently, METex14 skipping has become a functional biomarker for NSCLC with the approval of MET kinase inhibitors. Tepotinib is an oral MET kinase inhibitor. Its overall response rate is 46%, and the median duration of the response is 11.1 months. In Japan, companion diagnostics for tepotinib are limited with the ArcherMET and AmoyDx test, but not with Oncomine Dx target test...
June 2023: Molecular and Clinical Oncology
Noura J Choudhury, Jessica A Lavery, Samantha Brown, Ino de Bruijn, Justin Jee, Thinh Ngoc Tran, Hira Rizvi, Kathryn C Arbour, Karissa Whiting, Ronglai Shen, Matthew Hellmann, Philippe L Bedard, Celeste Yu, Natasha Leighl, Michele LeNoue-Newton, Christine Micheel, Jeremy L Warner, Michelle S Ginsberg, Andrew Plodkowski, Jeffrey Girshman, Peter Sawan, Shirin Pillai, Shawn M Sweeney, Kenneth L Kehl, Katherine S Panageas, Nikolaus Schultz, Deb Schrag, Gregory J Riely
PURPOSE: We describe the clinical and genomic landscape of the non-small cell lung cancer (NSCLC) cohort of the AACR Project GENIE Biopharma Collaborative (BPC). EXPERIMENTAL DESIGN: 1,846 patients with NSCLC whose tumors were sequenced from 2014 to 2018 at four institutions participating in AACR GENIE were randomly chosen for curation using the PRISSMMÔ data model. Progression-free survival (PFS) and overall survival (OS) were estimated for patients treated with standard therapies...
May 24, 2023: Clinical Cancer Research
Lili Liu, Jia Cui, Siye Liu, Evenki Pan, Limin Sun
Family history is an established risk factor for lung cancer. Previous studies have found that germline genetic alterations, such as those in EGFR , BRCA1 , BRCA2 , CHEK2 , CDKN2A , HER2 , MET , NBN , PARK2 , RET , TERT , TP53 , and YAP1 , are associated with an increased risk of developing lung cancer. The study reports the first of a lung adenocarcinoma proband with germline ERCC2 frameshift mutation c.1849dup (p. A617Gfs*32). Her family cancer history review demonstrated that her two healthy sisters, a brother with lung cancer, and three healthy cousins were positive for ERCC2 frameshift mutation, which might contribute to increased cancer risk...
2023: Frontiers in Oncology
Aswanth Reddy, Nkolika Nwankwo, Arjun Sekar, Aswini Kumar
Diarrhea is a common symptom in medical practice that often gets overlooked. This article is intended to increase the awareness of physicians and other providers on a subtle but important cause of chronic diarrhea.
May 2023: Clinical Case Reports
Norisato Mitsutake, Kenichi Nakamura, Shinichi Suzuki
Rearranged during transfection(RET)is one of the driver genes in thyroid cancer, which encodes a receptor tyrosine kinase. There are 2 types of genomic alterations of RET seen in thyroid cancer. Fusions of the RET tyrosine kinase domain region with partner genes are observed in papillary thyroid cancer, whereas RET mutations are observed in hereditary and sporadic medullary thyroid cancers. These alterations constantly activate downstream signaling pathways, leading to oncogenesis. Recently, selective RET inhibitors have been developed and approved overseas and in Japan for the treatment of RET-altered thyroid and lung cancers, and it will be important to detect genomic alterations in the RET gene using methods including companion diagnostics in the future...
May 2023: Gan to Kagaku Ryoho. Cancer & Chemotherapy
Raffaele Ciampi, Teresa Ramone, Cristina Romei, Roberta Casalini, Antonio Matrone, Alessandro Prete, Carla Gambale, Simone Paolo Minardi, Giovanni Caparezza, Marco Alessandro Pierotti, Liborio Torregrossa, Clara Ugolini, Gabriele Materazzi, Rossella Elisei
OBJECTIVE: 20% of sporadic MTC has no RET/RAS somatic alterations or other known gene alterations. Aim of this study was to investigate RET/RAS negative MTC for the presence of NF1 alterations. METHODS: we studied 18 sporadic RET/RAS negative MTC cases: Next generation sequencing of tumoral and blood DNA was performed using a custom panel including the entire coding region of the NF1 gene. The effect of NF1 alterations on the transcripts were characterized by RT-PCR and the loss of heterozygosity of the other NF1 allele was investigated with Multiplex Ligation-dependent Probe Amplification...
May 22, 2023: European Journal of Endocrinology
Iyshwarya Bhaskar Kalarani, Ganesan Sivamani, Ramakrishnan Veerabathiran
BACKGROUND: A malignancy of the endocrine system, one of the most common types, is thyroid cancer. It is proven that children who receive radiation treatment for leukemia or lymphoma are at a heightened risk of thyroid cancer due to low-dose radiation exposure throughout childhood. Several factors can increase the risk of thyroid cancer (ThyCa), such as chromosomal and genetic mutations, iodine intake, TSH levels, autoimmune thyroid disorders, estrogen, obesity, lifestyle changes, and environmental contaminants...
May 22, 2023: Journal of the Egyptian National Cancer Institute
Rossella Elisei, Enrique Grande, Michael C Kreissl, Sophie Leboulleux, Tarun Puri, Nicolas Fasnacht, Jaume Capdevila
The incidence of thyroid cancer is increasing worldwide with the disease burden in Europe second only to that in Asia. In the last several decades, molecular pathways central to the pathogenesis of thyroid cancer have revealed a spectrum of targetable kinases/kinase receptors and oncogenic drivers characteristic of each histologic subtype, such as differentiated thyroid cancer, including papillary, follicular, and medullary thyroid cancer. Oncogenic alterations identified include B-Raf proto-oncogene ( BRAF ) fusions and mutations, neurotrophic tyrosine receptor kinase ( NTRK ) gene fusions, and rearranged during transfection ( RET ) receptor tyrosine kinase fusion and mutations...
2023: Frontiers in Oncology
Ali S Alzahrani
Over the past three decades, advances in the molecular genetics of thyroid cancer (TC) have been translated into diagnostic tests, prognostic markers and therapeutic agents. The main drivers in differentiated thyroid cancer (DTC) pathogenesis are single point mutations and gene fusions in components of the MAPK and PI3K/AKT pathways. Other important genetic alterations in the more advanced types of TC include TERT promoter, TP53, EIF1AX, and epigenetic alterations. Utilizing this knowledge, a number of molecular tests have been developed for cytologically indeterminate thyroid nodules...
May 18, 2023: Journal of Clinical Endocrinology and Metabolism
Jiayan Chen, Chunwei Xu, Jiawen Lv, Wanjun Lu, Yixue Zhang, Dong Wang, Yong Song
BACKGROUND AND OBJECTIVE: Lung cancer is the most fatal malignant tumor in the world. Since the discovery of driver genes, targeted therapy has been demonstrated to be superior to traditional chemotherapy and has revolutionized the therapeutic landscape of non-small cell lung cancer (NSCLC). The remarkable success of tyrosine kinase inhibitors (TKIs) in patients with epidermal growth factor receptor ( EGFR ) mutations and anaplastic lymphoma kinase ( ALK ) fusions has shifted the treatment from platinum-based combination chemotherapy to targeted therapy...
April 28, 2023: Translational Lung Cancer Research
David B Zhen, Rachael A Safyan, Eric Q Konick, Ryan Nguyen, Colin C Prichard, E Gabriela Chiorean
Pancreatic ductal adenocarcinoma (PDA) is highly aggressive and has few treatment options. To personalize therapy, it is critical to delineate molecular subtypes and understand inter- and intra-tumoral heterogeneity. Germline testing for hereditary genetic abnormalities is recommended for all patients with PDA and somatic molecular testing is recommended for all patients with locally advanced or metastatic disease. KRAS mutations are present in 90% of PDA, while 10% are KRAS wild type and are potentially targetable with epidermal growth factor receptor blockade...
2023: Therapeutic Advances in Gastroenterology
Rossella Elisei, Cristina Romei
PURPOSE: Thyroid carcinoma (TC) is a rare neoplasia of the endocrine system and account for about 2-3% of all human tumors. According to their cell origin and histological features, different histotypes of thyroid carcinoma are described. Genetic alterations involved in the pathogenesis of thyroid cancer have been described and it has been shown that alterations of the RET gene are common events in all TC hystotypes. Aim of this review is to give an overview of the relevance of RET alterations in TC and to provide indications, timing and methodologies, for RET genetic analysis...
May 17, 2023: Endocrine
Wei Wu, Kezhe Tan, Weijue Xu, Jiangbin Liu, Zhibao Lv
OBJECTIVE: The study aimed to explore the pathogenicity of RET p.Phe147del in a Hirschsprung'irschspru (HSCR) family and facilitate the deeper understanding of HSCR families. METHODS: Whole-exome sequencing (WES) was performed to decipher a HSCR family. We used a "GlycoEP" tool to analyze RET protein glycosylation. A series of molecular biological approaches including mutated plasmid construction, cell transfection, polymerase chain reaction, immunofluorescence and immunoblotting were introduced to determine the mutation status and altered expression of RET as well as its related genes or proteins...
2023: American Journal of Translational Research
Kikuya Kato, Jiro Okami, Harumi Nakamura, Keiichiro Honma, Yoshiharu Sato, Seiji Nakamura, Yoji Kukita, Shin-Ichi Nakatsuka, Masahiko Higashiyama
The recent increase in the number of molecular targeted agents for lung cancer has led to the demand for the simultaneous testing of multiple genes. Although gene panels using next-generation sequencing (NGS) are ideal, conventional panels require a high tumor content, and biopsy samples often do not meet this requirement. We developed a new NGS panel, called compact panel, characterized by high sensitivity, with detection limits for mutations of 0.14%, 0.20%, 0.48%, 0.24%, and 0.20% for EGFR exon 19 deletion, L858R, T790M, BRAF V600E, and KRAS G12C, respectively...
April 19, 2023: Diagnostics
Matthieu Guillard, Charline Caumont, Pascale Marcorelles, Jean-Philippe Merlio, David Cappellen, Arnaud Uguen
AIMS: We aimed to evaluate the performances of the Idylla GeneFusion Assay (IGFA) designed to detect, in a single, rapid and fully automated assay, ALK , ROS1 , RET , NTRK1 , NTRK2 and NTRK3 gene fusions and MET exon 14 skipping in cancer samples. METHODS: Based on a set of tumours enriched in cases with gene fusions, we applied the IGFA to tumour areas of various sizes and tumour cell contents. IGFA results were compared with those obtained with other methods (immunohistochemistry, fluorescent in situ hybridisation, DNA and RNA next-generation sequencing)...
April 25, 2023: Journal of Clinical Pathology
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