keyword
Keywords Endocrine tumors, next generat...

Endocrine tumors, next generation sequencing

https://read.qxmd.com/read/38505749/double-somatic-mutations-in-ctnnb1-and-gna11-in-an-aldosterone-producing-adenoma
#1
JOURNAL ARTICLE
Kazutaka Nanba, Amy R Blinder, Aaron M Udager, Yuusuke Hirokawa, Takayoshi Miura, Hiroshi Okuno, Koki Moriyoshi, Yuto Yamazaki, Hironobu Sasano, Akihiro Yasoda, Noriko Satoh-Asahara, William E Rainey, Tetsuya Tagami
Double somatic mutations in CTNNB1 and GNA11/Q have recently been identified in a small subset of aldosterone-producing adenomas (APAs). As a possible pathogenesis of APA due to these mutations, an association with pregnancy, menopause, or puberty has been proposed. However, because of its rarity, characteristics of APA with these mutations have not been well characterized. A 46-year-old Japanese woman presented with hypertension and hypokalemia. She had two pregnancies in the past but had no history of pregnancy-induced hypertension...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38504051/current-evidences-in-poorly-differentiated-thyroid-carcinoma-a-systematic-review-and-subsection-meta-analysis-for-clinical-decision-making
#2
REVIEW
Sataksi Chatterjee, Manish Mair, Ashok R Shaha, Vinidh Paleri, Shikhar Sawhney, Aananya Mishra, Swayambhu Bhandarkar, Anil Keith D'Cruz
BACKGROUND: Poorly differentiated thyroid carcinoma (PDTC) is a distinct entity with intermediate prognosis between indolent follicular thyroid cancers and anaplastic carcinoma. The management guidelines are not standardized for these cancers due its low prevalence and limited available literature. Therefore, we did this systematic review with emphasis on current evidence on diagnosis, imaging, molecular markers, and management of these carcinomas. MATERIALS AND METHODS: We searched four databases, PubMed, Medline, EMBASE, and Emcare to identify studies published till October 2023...
March 19, 2024: Endocrine
https://read.qxmd.com/read/38487343/relevance-of-mutations-in-protein-deubiquitinases-genes-and-tp53-in-corticotroph-pituitary-tumors
#3
JOURNAL ARTICLE
Monika Pękul, Magdalena Szczepaniak, Paulina Kober, Natalia Rusetska, Beata J Mossakowska, Szymon Baluszek, Artur Kowalik, Maria Maksymowicz, Grzegorz Zieliński, Jacek Kunicki, Przemysław Witek, Mateusz Bujko
INTRODUCTION: Corticotroph pituitary neuroendocrine tumors (PitNETs) develop from ACTH-producing cells. They commonly cause Cushing's disease (CD), however, some remain clinically silent. Recurrent USP8 , USP48 , BRAF and TP53 mutations occur in corticotroph PitNETs. The aim of our study was to determine frequency and relevance of these mutations in a possibly large series of corticotroph PitNETs. METHODS: Study included 147 patients (100 CD and 47 silent tumors) that were screened for hot-spot mutations in USP8 , USP48 and BRAF with Sanger sequencing, while 128 of these patients were screened for TP53 mutations with next generation sequencing and immunohistochemistry...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38397408/parental-social-isolation-during-adolescence-alters-gut-microbiome-in-rat-male-offspring
#4
JOURNAL ARTICLE
Carlotta Siddi, Sofia Cosentino, Elena Tamburini, Luca Concas, Maria Barbara Pisano, Riccardo Ardu, Maura Deplano, Paolo Follesa, Elisabetta Maciocco, Patrizia Porcu, Mariangela Serra, Maria Giuseppina Pisu
Previous work from our laboratory demonstrated that parental stress, induced by social isolation starting at puberty, leads to behavioral, endocrine, and biochemical changes in the male, but not female, offspring (ISO-O) of Sprague-Dawley rats. Here, we report alterations in the gut microbiota composition of ISO-O vs. grouped-housed offspring (GH-O), although all animals received the same diet and were housed in the same conditions. Analysis of bacterial communities by next-generation sequencing (NGS) of 16S rRNA gene revealed alterations at family and order levels within the main phyla of Bacteroides, Proteobacteria, and Firmicutes, including an almost total deficit in Limosilactobacillus reuteri (formerly Lactobacillus reuteri ) and a significant increase in Ligilactobacillus murinus (formerly Lactobacillus murinus )...
January 31, 2024: Biomolecules
https://read.qxmd.com/read/38294658/a-novel-likely-pathogenetic-variant-p-cys235arg-of-the-men1-gene-in-multiple-endocrine-neoplasia-type-1-with-multifocal-glucagonomas
#5
JOURNAL ARTICLE
C Smirne, G M Giacomini, A M Berton, B Pasini, F Mercalli, F Prodam, M Caputo, L A A Brosens, E L M Mollero, R Pitino, M Pirisi, G Aimaretti, E Ghigo
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene. Diagnosis is commonly based on clinical criteria and confirmed by genetic testing. The objective of the present study was to report on a MEN1 case characterized by multiple pancreatic glucagonomas, with particular concern on the possible predisposing genetic defects. METHODS: While conducting an extensive review of the most recent scientific evidence on the unusual glucagonoma familial forms, we analyzed the MEN1 gene in a 35-year-old female with MEN1, as well as her son and daughter, using Sanger and next-generation sequencing (NGS) approaches...
January 31, 2024: Journal of Endocrinological Investigation
https://read.qxmd.com/read/38268989/whether-detection-of-gene-mutations-could-identify-low-or-high-risk-papillary-thyroid-microcarcinoma-data-from-393-cases-using-the-next-generation-sequencing
#6
JOURNAL ARTICLE
Lei Jin, Liang Zhou, Jian-Biao Wang, Li Tao, Xiao-Xiao Lu, Na Yan, Qian-Ming Chen, Li-Ping Cao, Lei Xie
OBJECTIVE: The objective of this study is to explore the utilization of next-generation sequencing (NGS) technology in evaluating the likelihood of identifying individuals with papillary thyroid microcarcinoma (PTMC ≤10 mm) who are at high or low risk. DESIGN: NGS was used to analyze 393 formalin-fixed, paraffin-embedded tissues of PTC tumors, all of which were smaller than 15 mm. RESULTS: The study found that bilateralism, multifocality, intrathyroidal spread, and extrathyroidal extension were present in 84 (21...
2024: International Journal of Endocrinology
https://read.qxmd.com/read/38252063/clinical-utility-of-plasma-cell-free-dna-in-pancreatic-neuroendocrine-neoplasms
#7
JOURNAL ARTICLE
Darren Cowzer, Ronak H Shah, Joanne F Chou, Ritika Kundra, Sippy Punn, Laura Fiedler, April DeMore, Marinela Capanu, Michael F Berger, Diane Reidy-Lagunes, Nitya Raj
In advanced pancreatic neuroendocrine neoplasms (PanNEN), there is little data detailing the frequency of genetic alterations identified in cell free DNA (cfDNA), plasma-tissue concordance of detected alterations, and clinical utility of cfDNA. Patients with metastatic PanNENs underwent cfDNA collection in routine practice. Next-generation sequencing (NGS) of cfDNA and matched tissue when available was performed. Clinical actionability of variants was annotated by OncoKB. Thirty-two cfDNA samples were analyzed from 25 patients, the majority who had well differentiated intermediate grade disease (13/25; 52%)...
January 1, 2024: Endocrine-related Cancer
https://read.qxmd.com/read/38244045/syndromic-men1-parathyroid-adenomas-consist-of-both-subclonal-nodules-and-clonally-independent-tumors
#8
JOURNAL ARTICLE
Konstantin Bräutigam, Cédric Nesti, Philipp Riss, Christian Scheuba, Bruno Niederle, Tobias Grob, Annunziata Di Domenico, Maja Neuenschwander, Peter Mazal, Nastassja Köhn, Roman Trepp, Aurel Perren, Reto M Kaderli
Primary hyperparathyroidism with parathyroid tumors is a typical manifestation of Multiple Endocrine Neoplasia Type 1 (MEN1) and is historically termed "primary hyperplasia". Whether these tumors represent a multi-glandular clonal disease or hyperplasia has not been robustly proven so far. Loss of Menin protein expression is associated with inactivation of both alleles and a good surrogate for a MEN1 gene mutation. The cyclin-dependent kinase inhibitor 1B (CDKN1B) gene is mutated in MEN4 and encodes for protein p27 whose expression is poorly studied in the syndromic MEN1 setting...
January 20, 2024: Virchows Archiv: An International Journal of Pathology
https://read.qxmd.com/read/38078934/the-prognostic-power-of-gene-mutations-in-thyroid-cancer
#9
REVIEW
Sara Ahmadi, Inigo Landa
The introduction and generalization of next-generation sequencing techniques have significantly increased the identification of mutations in thyroid tumors from multiple patient cohorts. The understanding of the association between specific mutations and clinical outcomes is gradually leading to individualizing the care of patients with thyroid cancer. BRAFV600 is the most common mutation seen in thyroid cancer patients and unequivocally predicts malignancy, but when considered in isolation, it is not recommended to be used as an independent prognostic factor...
December 1, 2023: Endocrine Connections
https://read.qxmd.com/read/38041215/progress-report-of-a-cross-organ-and-biomarker-based-basket-type-clinical-trial-believe-trial
#10
JOURNAL ARTICLE
Yayoi Ando, Tatsunori Shimoi, Kuniko Sunami, Natsuko Okita, Kenichi Nakamura, Taro Shibata, Yasuhiro Fujiwara, Noboru Yamamoto
Cancer genomic medicine using next-generation sequencers has been developing. However, the number of patients who could receive genomically matched therapy is limited because off-label use or patient-oriented compassionate use was not permitted under National Health Insurance in Japan. To improve patient drug accessibility, we initiated a biomarker-based basket-type clinical trial (NCCH1901) in October 2019 under patient-proposed healthcare services. We listed the drugs that had high medical needs but were not covered by National Healthcare Insurance...
December 1, 2023: Cancer Science
https://read.qxmd.com/read/38003935/young-women-with-breast-cancer-the-current-role-of-precision-oncology
#11
REVIEW
Amirrtha Srikanthan, Arif Ali Awan, Sharon McGee, Moira Rushton
Young adults aged 40 years and younger with breast cancer represent less than 5% of all breast cancer cases, yet it is the leading cause of death among young women with cancer worldwide. Breast cancer that develops at a young age is more aggressive and has biological features that carry an increased risk of relapse and death. Young adults are more likely to have a genetic predisposition and key biomarkers, including endocrine receptors, the HER2 receptor, and proliferation biomarkers, that appear different compared to older adults...
November 20, 2023: Journal of Personalized Medicine
https://read.qxmd.com/read/38002585/braf-k601e-mutation-in-oncocytic-carcinoma-of-the-thyroid-a-case-report-and-literature-review
#12
Antonio Matrone, Fabrizia Citro, Carla Gambale, Alessandro Prete, Elisa Minaldi, Raffaele Ciampi, Teresa Ramone, Gabriele Materazzi, Liborio Torregrossa, Rossella Elisei
BACKGROUND: Thyroid carcinoma (TC) is the most common endocrine cancer, with papillary thyroid carcinoma (PTC) being the most common subtype. BRAF and RAS oncogene were characterized as the most frequently altered genes in PTC, with a strong association between genotype and histotype. The most common mutation in BRAF gene is V600E and is prevalent in classic and aggressive variants of PTC, while BRAF K601E mutation is the most common among the other rare BRAF mutations. BRAF K601E mutated thyroid carcinomas are usually characterized by low aggressiveness, except for anecdotal cases of poorly differentiated TC...
November 7, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/37958343/-esr1-gene-mutations-and-liquid-biopsy-in-er-positive-breast-cancers-a-small-step-forward-a-giant-leap-for-personalization-of-endocrine-therapy
#13
REVIEW
Margaux Betz, Vincent Massard, Pauline Gilson, Andréa Witz, Julie Dardare, Alexandre Harlé, Jean-Louis Merlin
The predominant forms of breast cancer (BC) are hormone receptor-positive (HR+) tumors characterized by the expression of estrogen receptors (ERs) and/or progesterone receptors (PRs). Patients with HR+ tumors can benefit from endocrine therapy (ET). Three types of ET are approved for the treatment of HR+ BCs and include selective ER modulators, aromatase inhibitors, and selective ER downregulators. ET is the mainstay of adjuvant treatment in the early setting and the backbone of the first-line treatment in an advanced setting; however, the emergence of acquired resistance can lead to cancer recurrence or progression...
October 27, 2023: Cancers
https://read.qxmd.com/read/37916027/pheochromocytoma-a-changing-perspective-and-current-concepts
#14
REVIEW
Andreas Kiriakopoulos, Periklis Giannakis, Evangelos Menenakos
This article aims to review current concepts in diagnosing and managing pheochromocytoma and paraganglioma (PPGL). Personalized genetic testing is vital, as 40-60% of tumors are linked to a known mutation. Tumor DNA should be sampled first. Next-generation sequencing is the best and most cost-effective choice and also helps with the expansion of current knowledge. Recent advancements have also led to the increased incorporation of regulatory RNA, metabolome markers, and the NETest in PPGL workup. PPGL presentation is highly volatile and nonspecific due to its multifactorial etiology...
2023: Therapeutic Advances in Endocrinology and Metabolism
https://read.qxmd.com/read/37882481/ret-fusion-genes-in-pediatric-and-adult-thyroid-carcinomas-cohort-characteristics-and-prognosis
#15
JOURNAL ARTICLE
Barbora Bulanova Pekova, Vlasta Sykorova, Karolina Mastnikova, Eliska Vaclavikova, Jitka Moravcova, Petr Vlcek, Lucie Lancova, Petr Lastuvka, Rami Katra, Petr Bavor, Daniela Kodetova, Martin Chovanec, Jana Drozenova, Radoslav Matej, Jaromir Astl, Jiri Hlozek, Petr Hrabal, Josef Vcelak, Bela Bendlova
Thyroid cancer is associated with a broad range of different mutations, including RET (rearranged during transfection) fusion genes. The importance of characterizing RET fusion-positive tumors has recently increased due to the possibility of targeted treatment. The aim of this study was to identify RET fusion-positive thyroid tumors, correlate them with clinicopathological features, compare them with other mutated carcinomas, and evaluate long-term follow-up of patients. The cohort consisted of 1564 different thyroid tissue samples (including 1164 thyroid carcinoma samples) from pediatric and adult patients...
December 1, 2023: Endocrine-related Cancer
https://read.qxmd.com/read/37864956/esr1-mutations-in-hr-her2-metastatic-breast-cancer-enhancing-the-accuracy-of-ctdna-testing
#16
REVIEW
Konstantinos Venetis, Francesco Pepe, Carlo Pescia, Giulia Cursano, Carmen Criscitiello, Chiara Frascarelli, Eltjona Mane, Gianluca Russo, Beatrice Taurelli Salimbeni, Giancarlo Troncone, Elena Guerini Rocco, Giuseppe Curigliano, Nicola Fusco, Umberto Malapelle
Activating mutations of the estrogen receptor alpha gene (ESR1) are common mechanisms of endocrine therapy (ET) resistance in hormone receptor-positive (HR + )/Human Epidermal Growth Factor Receptor 2 (HER2)-negative metastatic breast cancer (MBC). Recent clinical findings emphasize that both old and new generations of selective ER degraders (SERDs) demonstrate enhanced clinical effectiveness in patients with MBC who have detectable ESR1 mutations via liquid biopsy. This stands in contrast to individuals with MBC carrying these mutations and undergoing conventional endocrine monotherapies like aromatase inhibitors (AIs)...
December 2023: Cancer Treatment Reviews
https://read.qxmd.com/read/37855374/in-adolescent-girls-virilization-at-puberty-may-reveal-a-46-xy-disorder-of-sexual-development
#17
JOURNAL ARTICLE
Anne Bergougnoux, Laura Gaspari, Marion Soleirol, Nadege Servant, Soskin Sylvie, Sylvie Rossignol, Kathy Wagner-Mahler, Jérôme Bertherat, Charles Sultan, Nicolas Kalfa, Françoise Paris
OBJECTIVE: Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspect an adrenal or ovarian tumor. However, they may also reveal a 46,XY disorder of sexual development (DSD). Here, we describe four adolescent girls referred for pubertal virilization and in whom we diagnosed a 46,XY DSD. METHODS: We performed gene mutation screening by Sanger sequencing and by next generation sequencing (NGS) in one patient...
October 1, 2023: Endocrine Connections
https://read.qxmd.com/read/37852034/efficacy-of-olaparib-in-advanced-cancers-with-germline-or-somatic-mutations-in-brca1-brca2-chek2-and-atm-a-belgian-precision-tumor-agnostic-phase-ii-study
#18
JOURNAL ARTICLE
S Joris, H Denys, J Collignon, M Rasschaert, D T'Kint de Roodenbeke, F P Duhoux, J-L Canon, S Tejpar, J Mebis, L Decoster, P Aftimos, J De Grève
BACKGROUND: The Belgian Precision initiative aims to maximize the implementation of tumor-agnostic next-generation sequencing in patients with advanced cancer and enhance access to molecularly guided treatment options. Academic tumor-agnostic basket phase II studies are part of this initiative. The current investigator-driven trial aimed to investigate the efficacy of olaparib in advanced cancers with a (likely) pathogenic mutation (germline or somatic) in a gene that plays a role in homologous recombination (HR)...
December 2023: ESMO Open
https://read.qxmd.com/read/37840240/microbiome-reveals-inflammatory-related-bacteria-and-putative-functional-pathways-involved-in-human-papillomavirus-associated-penile-squamous-cell-carcinoma
#19
JOURNAL ARTICLE
Amanda de Deus, Gabriele Gonçalves, Jenilson da Silva, Luís Cláudio de Jesus, Ana Paula S Azevedo-Santos, Hivana Dall Agnol, Silma Regina Pereira
BACKGROUND: Penile squamous cell carcinoma (PSCC) is a rare disease that is more prevalent in developing countries, such as Brazil, and is linked to poor genital hygiene, which promotes the proliferation of microorganisms. Dysbiosis has an effect on the local immune response, increases the risk of viral infection, and can generate inflammatory processes. Current knowledge of the microbiota found in penile tissues is limited, and the bacterial diversity of the PSCC remains unknown. In this investigation, the microbiota associated with penile cancer and its potential role in tumor development and progression were identified...
October 15, 2023: Andrology
https://read.qxmd.com/read/37784176/interplay-between-esr1-pik3ca-codon-variants-oncogenic-pathway-alterations-and-clinical-phenotype-in-patients-with-metastatic-breast-cancer-mbc-comprehensive-circulating-tumor-dna-ctdna-analysis
#20
JOURNAL ARTICLE
Lorenzo Gerratana, Andrew A Davis, Marko Velimirovic, Katherine Clifton, Whitney L Hensing, Ami N Shah, Charles S Dai, Carolina Reduzzi, Paolo D'Amico, Firas Wehbe, Arielle Medford, Seth A Wander, William J Gradishar, Amir Behdad, Fabio Puglisi, Cynthia X Ma, Aditya Bardia, Massimo Cristofanilli
BACKGROUND: although being central for the biology and druggability of hormone-receptor positive, HER2 negative metastatic breast cancer (MBC), ESR1 and PIK3CA mutations are simplistically dichotomized as mutated or wild type in current clinical practice. METHODS: The study analyzed a multi-institutional cohort comprising 703 patients with luminal-like MBC characterized for circulating tumor DNA through next generation sequencing (NGS). Pathway classification was defined based on previous work (i...
October 2, 2023: Breast Cancer Research: BCR
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