keyword
https://read.qxmd.com/read/36480743/molecular-testing-in-fine-needle-aspiration-of-thyroid-nodules
#1
JOURNAL ARTICLE
Valarie McMurtry, Sule Canberk, Georgios Deftereos
BACKGROUND: Thyroid nodules are commonly faced by clinicians as palpable nodules or incidentally identified on imaging. Nodules that are found to be suspicious by imaging can be biopsied by fine needle aspiration, which can yield material for molecular testing to refine the diagnosis. METHODS: The current literature concerning molecular testing in thyroid nodules including available commercial assays was reviewed and summarized. RESULTS/CONCLUSIONS: Commonly encountered alterations include mutations in RAS, BRAF, TERT promoter, PTEN, and DICER1 as well as fusions of RET, ALK, PAX8-PPARγ, and NTRK...
January 2023: Diagnostic Cytopathology
https://read.qxmd.com/read/36470901/tissue-and-liquid-biopsy-profiling-reveal-convergent-tumor-evolution-and-therapy-evasion-in-breast-cancer
#2
JOURNAL ARTICLE
Smruthy Sivakumar, Dexter X Jin, Hanna Tukachinsky, Karthikeyan Murugesan, Kimberly McGregor, Natalie Danziger, Dean Pavlick, Ole Gjoerup, Jeffrey S Ross, Robert Harmon, Jon Chung, Brennan Decker, Lucas Dennis, Garrett M Frampton, Luciana Molinero, Steffi Oesterreich, Jeffrey M Venstrom, Geoffrey R Oxnard, Priti S Hegde, Ethan S Sokol
Pathological and genomic profiling have transformed breast cancer care by matching patients to targeted treatments. However, tumors evolve and evade therapeutic interventions often through the acquisition of genomic mutations. Here we examine patients profiled with tissue (TBx) and liquid biopsy (LBx) as part of routine clinical care, to characterize the tumor evolutionary landscape and identify potential vulnerabilities in the relapsed setting. Real-world evidence demonstrates that LBx is utilized later in care and identifies associations with intervening therapy...
December 5, 2022: Nature Communications
https://read.qxmd.com/read/36456885/temporal-trends-in-referrals-of-ret-gene-carriers-for-neck-surgery-to-a-tertiary-surgical-center-in-the-era-of-international-management-guidelines
#3
JOURNAL ARTICLE
Andreas Machens, Kerstin Lorenz, Eva-Maria Huessler, Andreas Stang, Frank Weber, Henning Dralle
PURPOSE: Thirty years into the genomic era, this study sought to explore events that helped transform the clinical landscape of hereditary medullary thyroid cancer (MTC). METHOD: This retrospective analysis of prospectively collected data included all RET carriers referred to a tertiary center for neck surgery that was performed between 1986 and 2021, using descriptive statistics and Poisson regression analysis. RESULTS: Altogether, 496 RET carriers were referred for thyroidectomy (388 carriers) or neck reoperation (108 carriers)...
December 2, 2022: Endocrine
https://read.qxmd.com/read/36452495/-ret-fusion-mutation-detected-by-re-biopsy-7-years-after-initial-cytotoxic-chemotherapy-a-case-report
#4
Kei Morikawa, Hiroshi Handa, Junko Ueno, Hajime Tsuruoka, Takeo Inoue, Naoki Shimada, Junki Koike, Seiji Nakamura, Yoshiharu Sato, Masamichi Mineshita
Personalized medicine using molecular-targeted drugs to achieve better therapeutic response and long-term prognosis is common practice for lung cancer treatment. However, in cases before gene batch tests were available, medical treatment continued without the detection of rare mutations. We report a sixty-seven-old year man diagnosed with adenocarcinoma T1cN3M1a, stage IVA. Initial screening performed 7 years earlier using EGFR mutation and ALK immunohistochemical tests were negative. Although first-line cytotoxic combination chemotherapy was remarkably effective, a gradual regression of the primary lesion was noted...
2022: Frontiers in Oncology
https://read.qxmd.com/read/36439433/pd-l1-expression-and-association-with-genetic-background-in-pheochromocytoma-and-paraganglioma
#5
JOURNAL ARTICLE
Katerina Hadrava Vanova, Ondrej Uher, Leah Meuter, Suman Ghosal, Sara Talvacchio, Mayank Patel, Jiri Neuzil, Karel Pacak
Metastatic pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors associated with poor prognosis and limited therapeutic options. Recent advances in oncology-related immunotherapy, specifically in targeting of programmed cell death-1 (PD-1)/programmed death-ligand 1 (PD-L1) pathways, have identified a new treatment potential in a variety of tumors, including advanced and rare tumors. Only a fraction of patients being treated by immune checkpoint inhibitors have shown to benefit from it, displaying a need for strategies which identify patients who may most likely show a favorable response...
2022: Frontiers in Oncology
https://read.qxmd.com/read/36437214/small-cell-lung-cancer-transformation-as-a-mechanism-of-resistance-to-pralsetinib-in-ret-rearranged-lung-adenocarcinoma-a-case-report
#6
Alexia Gazeu, Mylena Aubert, Daniel Pissaloux, Sylvie Lantuejoul, Maurice Pérol, Nadia Ikhlef, Amine Bouhamama, Tatiana Franceschi, Aurélie Swalduz
The majority of resistance to Rearranged during transfection (RET)-specific tyrosine kinase inhibitors (TKI) described in RET-rearranged non-small cell lung cancer (NSCLC) patients are driven by RET-independent mechanisms. We provide the first case report of a RET-rearranged lung adenocarcinoma (LUAD) transformation into small-cell lung cancer (SCLC) as a mechanism of acquired resistance to pralsetinib. A 43-year-old patient presented with a RET-rearranged LUAD revealed by pleural effusion. After 14 months of response to pralsetinib, biopsy of a progressive pleural lesion found a phenotypic transformation into SCLC...
November 1, 2022: Clinical Lung Cancer
https://read.qxmd.com/read/36433823/tnm-staging-and-overall-survival-in-patients-with-pheochromocytoma-and-sympathetic-paraganglioma
#7
JOURNAL ARTICLE
Camilo Jimenez, Junsheng Ma, Alejandro Roman Gonzalez, Jeena Varghese, Miao Zhang, Nancy Perrier, Mouhammed Amir Habra, Paul Graham, Steven G Waguespack
BACKGROUND: Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors. Metastases develop in 15-20%. The American Joint Committee on Cancer (AJCC) established inaugural guidelines for PPGL tumor-node-metastasis (TNM) staging. The objective of this analysis is to investigate the associations between TNM staging and overall survival (OS). METHODS: We retrospectively applied the TNM staging at the time of diagnosis of the primary tumor. The primary outcome was OS...
November 26, 2022: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/36426286/the-role-of-chemotherapy-plus-immune-checkpoint-inhibitors-in-oncogenic-driven-nsclc-a-university-of-california-lung-cancer-consortium-retrospective-study
#8
JOURNAL ARTICLE
David J Benjamin, Shuai Chen, Joanna B Eldredge, Shiruyeh Schokrpur, Debory Li, Zhikuan Quan, Jason W Chan, Amy L Cummings, Megan E Daly, Jonathan W Goldman, Matthew A Gubens, Jeremy P Harris, Mark W Onaitis, Viola W Zhu, Sandip P Patel, Karen Kelly
INTRODUCTION: There is a paucity of data on immune checkpoint inhibitors (ICIs) plus doublet chemotherapy (C) in patients with advanced lung cancer whose tumor harbors an actionable mutation. We sought to provide insight into the role of this combination in relation to chemotherapy alone in this patient population. METHODS: We conducted a retrospective study at the five University of California National Cancer Institute-designated Comprehensive Cancer Centers. The primary end point was progression-free survival (PFS)...
December 2022: JTO clinical and research reports
https://read.qxmd.com/read/36408280/single-cell-gene-expression-analysis-in-patients-with-medullary-sponge-kidney-and-a-retrospective-study
#9
JOURNAL ARTICLE
Ming Li, Da-Ming Xu, Shu-Bin Lin, Zheng-Liang Yang, Teng-Yu Xu, Jin-Huan Yang, Jun Yin
OBJECTIVE: To establish better diagnosis thinking and provide advanced understanding of MSK, the CT imaging features, clinical characteristics, and the expression of suspected genes in the kidney spatiotemporal immune zonation and fetal renal development were investigated. METHODS: 17 patients with MSK hospitalized in our hospital were selected as our research subjects. Human Phenotype Ontology, MalaCards: The Human Disease Database, GeneCards: The Human Gene Database, Human Protein Atlas, and Single Cell Expression Atlas were used to analyze this disease...
2022: BioMed Research International
https://read.qxmd.com/read/36407731/crispr-cas9-ret-gene-knockout-in-medullary-thyroid-carcinoma-cell-lines-optimization-and-validation
#10
JOURNAL ARTICLE
Marjan Zarif-Yeganeh, Dariush D Farhud, Azam Rahimpour, Sara Sheikholeslami, Setareh Shivaei, Mehdi Hedayati
BACKGROUND: Medullary Thyroid Cancer (MTC) is a very aggressive type of thyroid carcinoma. Mutation in RET proto-oncogene is demonstrated in MTC development. We aimed to knock-out of RET -oncogene using CRISPR/Cas9 genome editing method in MTC cell-lines. METHODS: This research was conducted in Shahid Beheshti University of Medical Sciences, Tehran, Iran during 2019-2020. Four different sgRNAs were designed to target exons one, two, and four of RET -oncogene in TT and MZ-CRC-1 cell-lines using bioinformatics tools, then the CRISPR/Cas9 constructs was made...
May 2022: Iranian Journal of Public Health
https://read.qxmd.com/read/36407031/ret-t244i-germline-variant-mutation-in-a-patient-with-pancreatic-paraganglioma-and-primary-hyperparathyroidism
#11
Minha Kim, Krist Aploks, Susana Vargas-Pinto, Xiang Dong
INTRODUCTION: Paragangliomas are rare neuroendocrine tumors that arise from chromaffin cells. Often termed extra-adrenal pheochromocytomas, these tumors vary with regards to their functionality, location, and malignant potential. Mutations in the RET proto-oncogene are associated with multiple endocrine neoplasia syndrome type 2 (MEN-2) and paragangliomas. The phenotypes of the individual mutations are documented to help determine prognosis. CASE PRESENTATION: We report a case of a 64-year-old man with a history of parathyroid adenoma who developed a pancreatic retroperitoneal paraganglioma...
July 2022: International Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/36382481/thyroid-carcinoma-metastases-to-central-nervous-system-and-vertebrae
#12
JOURNAL ARTICLE
Bette Kleinschmidt-DeMasters, Carrie Marshall
INTRODUCTION: Metastatic thyroid carcinoma rarely involves the parenchyma of the central nervous system (CNS) or vertebral bones. While various mutations have been identified in primary thyroid carcinomas and differ based on the histological type, little is known about the molecular features of thyroid carcinoma metastases to brain or spinal column. Based on limited prior literature, we hypothesized that TERT mutations might be enriched in CNS metastatic lesions. MATERIAL AND METHODS: CNS/vertebral metastases were identified via database search, 1...
2022: Folia Neuropathologica
https://read.qxmd.com/read/36380878/spindle-cell-sarcoma-with-kiaa1549-braf-resembling-infantile-fibrosarcoma-morphologically-a-case-report-and-literature-review
#13
Tomoko Fujikawa, Suguru Uemura, Makiko Yoshida, Sayaka Hyodo, Aiko Kozaki, Atsuro Saito, Kenji Kishimoto, Toshiaki Ishida, Takeshi Mori, Ayano Uematsu, Keiichi Morita, Tadashi Hatakeyama, Akihiro Tamura, Nobuyuki Yamamoto, Masato Komatsu, Toshinori Soejima, Daiichiro Hasegawa, Yoshiyuki Kosaka
Infantile fibrosarcoma (IFS) commonly harbors ETS variant transcription factor 6 ( ETV6 )-neurotrophic receptor tyrosine kinase 3 ( NTRK3 ) fusion. However, the recent accessibility to clinical next-generation sequencing (NGS) has revealed ETV6-NTRK3 negative spindle cell sarcomas resembling IFS morphologically, involving NTRK1/2, MET, RET and BRAF . The present report describes a pediatric case of spindle cell sarcoma with KIAA1549-BRAF resembling IFS morphologically. A 20-month-old female patient was referred to Kobe Children's Hospital (Kobe, Japan) for the treatment of intrathoracic spindle cell sarcoma...
December 2022: Oncology Letters
https://read.qxmd.com/read/36358717/ret-proto-oncogene-not-such-an-obvious-starting-point-in-cancer-therapy
#14
REVIEW
Tomasz Kucharczyk, Paweł Krawczyk, Dariusz M Kowalski, Adam Płużański, Tomasz Kubiatowski, Ewa Kalinka
Mutations and fusions of RET (rearranged during transfection) gene are detected in a few common types of tumors including thyroid or non-small cells lung cancers. Multiple kinase inhibitors (MKIs) do not show spectacular effectiveness in patients with RET -altered tumors. Hence, recently, two novel RET -specific inhibitors were registered in the US and in Europe. Selpercatinib and pralsetinib showed high efficacy in clinical trials, with fewer adverse effects, in comparison to previously used MKIs. However, the effectiveness of these new drugs may be reduced by the emergence of resistance mutations in RET gene and activation of different activating signaling pathways...
October 27, 2022: Cancers
https://read.qxmd.com/read/36323578/-the-trends-in-early-precision-diagnosis-and-treatment-strategies-of-multiple-endocrine-neoplasia-type-2
#15
JOURNAL ARTICLE
X P Qi, Baiye Jin
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism and extra-endocrine features, and two forms subtyped as MEN2A and MEN2B. Based on the correlation between RET proto-oncogene mutation and MEN2 phenotype, MEN2 could be prevented through prenatal diagnosis and preimplantation genetic testing. Integrating the detection of RET mutation with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could accurately predict the progression of MEN2, and then facilitating implementation of personalized precision treatment...
November 1, 2022: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://read.qxmd.com/read/36308779/1-methyl-3-4-quinolin-4-yloxy-phenyl-amino-1h-pyrazole-4-carboxamide-derivatives-as-new-rearranged-during-transfection-ret-kinase-inhibitors-capable-of-suppressing-resistant-mutants-in-solvent-front-regions
#16
JOURNAL ARTICLE
Yunong Zhang, Shinpan Chan, Rui He, Yiling Liu, Xiaojuan Song, Zheng-Chao Tu, Xiaomei Ren, Yang Zhou, Zhang Zhang, Zhen Wang, Fengtao Zhou, Ke Ding
REarranged during Transfection (RET) is a validated target for anticancer drug discovery and two selective RET inhibitors were approved by US FDA in 2020. However, acquired resistance mediated by secondary mutations in the solvent-front region of the kinase (e.g. G810C/S/R) becomes a major challenge for selective RET inhibitor therapies. Herein, we report a structure-based design of 1-methyl-3-((4-(quinolin-4-yloxy)phenyl)amino)-1H-pyrazole-4-carboxamide derivatives as new RET kinase inhibitors which are capable of suppressing the RETG810 C/R resistant mutants...
October 21, 2022: European Journal of Medicinal Chemistry
https://read.qxmd.com/read/36307322/-men-for-multiple-endocrin-neoplasms-when-evokate-men-update-2022
#17
REVIEW
M Duval, M Haissaguerre
Multiple endocrine neoplasia (MEN) are genetic predisposition syndromes to endocrine tumors including MEN1, MEN2 and exceptionally MEN4. MEN are transmitted in an autosomal dominant fashion with a high penetrance. Classically, there is no genotype/phenotype correlation for NEM1 whereas this is the case for NEM2. Patients with NEM1, linked to an inactivating mutation of the menin gene, may present with: primary hyperparathyroidism, pituitary adenoma, duodeno-pancreatic neuroendocrine tumors (NETs), bronchial tumors with an increased risk of thymoma, adrenal cortical tumors, an increased risk of breast cancer and characteristic skin involvement such as collagenomas, lentiginomas and an increased risk of skin cancer...
October 25, 2022: La Revue de Médecine Interne
https://read.qxmd.com/read/36290850/current-clinical-practice-of-precision-medicine-using-comprehensive-genomic-profiling-tests-in-biliary-tract-cancer-in-japan
#18
REVIEW
Masashi Kanai
With the recent advances of next generation sequencing technologies, comprehensive genomic profiling (CGP) tests, which are designed to measure more than hundreds of cancer-related genes at a time, have now been widely introduced into daily clinical practice. For the patients whose tumor samples are not fit for tissue-based CGP tests, a blood-based CGP test (liquid biopsy) is available as an alternative option. Three CGP tests, "OncoGuide NCC™Oncopanel System (124 genes)", "FoundationOne® CDx (324 genes)", and "Founda-tionOne® CDx Liquid (324 genes)", are now reimbursed by public insurance in 233 hospitals designated for cancer genomic medicine in Japan...
September 30, 2022: Current Oncology
https://read.qxmd.com/read/36281592/-cancer-therapy-targeting-fusion-genes-in-lung-cancer
#19
JOURNAL ARTICLE
Akiko Tateishi, Yasushi Goto
Therapeutic landscape of lung cancer has undergone a dramatic shift due to the better understandings of disease biology and the identification of oncogenic driver alterations. Consequently, the new classification paradigm of non-small-cell lung cancer is further characterized by molecularly defined subsets, and making the therapeutic landscape increasingly complex. Driver gene mutations have been found in approximately 75% of Japanese non-squamous, non-small-cell lung cancers. Among these, the gene mutations for which molecularly-targeted therapies are being developed include EGFR mutations, ALK fusion gene, ROS1 fusion gene, BRAF V600E mutation, MET exon 14 skipping mutation, KRAS G12C mutation, RET fusion gene, and NTRK fusion gene...
October 2022: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://read.qxmd.com/read/36263208/genomic-landscape-of-lung-cancer-in-the-young
#20
JOURNAL ARTICLE
Rossana Ruiz, Marco Galvez-Nino, Katia Roque, Jaime Montes, Maria Nuñez, Luis Raez, Sergio Sánchez-Gambetta, Sandra Jaúregui, Sandra Viale, Edward S Smith, Joseph A Pinto, Luis Mas
Background: Lung cancer in the young is a rare entity of great interest due to the high frequency of targetable mutations. In this study, we explored the genomic landscape of non-small cell lung cancer (NSCLC) in young patients and compared it with genetic alterations in older patients. Methods: Comparative study of the genomic profile of NSCLC young (≤40 years old) vs older patients (>40 years old) from Instituto Nacional de Enfermedades Neoplásicas (INEN) in Lima, Peru...
2022: Frontiers in Oncology
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