keyword
https://read.qxmd.com/read/38747338/uncovering-the-wwtr1-ncoa2-gene-fusion-in-low-grade-myoepithelial-rich-neoplasm-with-hmga2-expression-a-case-report
#1
JOURNAL ARTICLE
Ziyad Alsugair, Daniel Pissaloux, Françoise Descotes, Franck Tirode, Jonathan Lopez, Jimmy Perrot, Ariane Lapierre, Maxime Fieux, Pierre Philouze, Anne Champagnac, Mihaela Onea, Nazim Benzerdjeb
We describe a case of a pleomorphic adenoma (PA) arising from the para-tracheal accessory salivary gland in a 44-year-old male harboring a novel WWTR1::NCOA2 gene fusion. To our knowledge, this novel gene fusion has not been described previously in salivary gland tumors. The patient presented with hoarseness of voice. The radiological exam revealed a mass in the upper third of the trachea involving the larynx. Histologically, the tumor consisted of bland-looking monocellular eosinophilic epithelial cells arranged in cords and sheets separated by thin fibrous stroma, focally forming a pseudo-tubular pattern...
May 2024: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/38747073/francisella-salimarina-infection-in-farmed-cobia-rachycentron-canadum-and-dusky-grouper-epinephelus-marginatus-in-brazil-a-case-report
#2
JOURNAL ARTICLE
Victória Pontes Rocha, Danise Gauer, Henrique Lopes Costa, Francisco Yan Tavares Reis, Sóstenes Apolo Correia Marcelino, Luiz Fagner Ferreira Nogueira, Felipe Pierezan, Henrique César Pereira Figueiredo, Guilherme Campos Tavares
This study aimed to identify and characterize isolates of Francisella salimarina associated with an outbreak on a marine fish farm in Brazil and to analyse their genetic variability and antimicrobial susceptibility. In 2021, diseased cobias (Rachycentron canadum, n = 10) and dusky groupers (Epinephelus marginatus, n = 10) were sampled and subjected to bacteriological and pathological examinations. The isolates obtained were morphologically and biochemically characterized and identified by matrix-assisted laser desorption/ionization-time of flight (MALDI-ToF) and 16S rRNA gene sequencing...
May 15, 2024: Journal of Fish Diseases
https://read.qxmd.com/read/38745682/evaluation-of-salivary-function-post-partial-superficial-parotidectomy
#3
JOURNAL ARTICLE
Sona Sepahi, Atena Aghaee, Imaneh Roshanzamir, Adel Ghorani-Azam, Soheila Erfani, Leila Mashhadi, Kamran Khazaeni
INTRODUCTION: Parotid pleomorphic adenomas necessitate surgical intervention, with a growing emphasis on preserving salivary function post-surgery due to its critical role in maintaining oral health and overall quality of life. This study aims to evaluate a surgical method meticulously designed to preserve salivary function following partial superficial parotidectomy, utilizing Technetium-99m scintigraphy. MATERIALS AND METHODS: This single-center prospective cohort study was conducted in Mashhad, Iran, between 2022 and 2023...
May 2024: Iranian Journal of Otorhinolaryngology
https://read.qxmd.com/read/38745179/plag1-interacts-with-gpx4-to-conquer-vulnerability-to-sorafenib-induced-ferroptosis-through-a-pvt1-mir-195-5p-axis-dependent-manner-in-hepatocellular-carcinoma
#4
JOURNAL ARTICLE
Jiarui Li, Yilan Li, Denghui Wang, Rui Liao, Zhongjun Wu
BACKGROUND: Sorafenib is a standard first-line treatment for advanced hepatocellular carcinoma (HCC), yet its effectiveness is often constrained. Emerging studies reveal that sorafenib triggers ferroptosis, an iron-dependent regulated cell death (RCD) mechanism characterized by lipid peroxidation. Our findings isolate the principal target responsible for ferroptosis in HCC cells and outline an approach to potentially augment sorafenib's therapeutic impact on HCC. METHODS: We investigated the gene expression alterations following sgRNA-mediated knockdown induced by erastin and sorafenib in HCC cells using CRISPR screening-based bioinformatics analysis...
May 14, 2024: Journal of Experimental & Clinical Cancer Research: CR
https://read.qxmd.com/read/38744596/a-retrospective-study-of-291-patients-with-head-and-neck-sarcomas-treatment-outcomes-and-prognostic-factors
#5
JOURNAL ARTICLE
R G Hikmet, T E Klug, S D Gade, B Sandfeld-Paulsen, N Aggerholm-Pedersen
AIMS: Sarcomas constitute a group of rare malignant neoplasms, commonly subcategorized into soft tissue sarcomas (STS) and bone sarcomas. This study aims to describe the treatment modalities and outcome of head and neck sarcoma (HNS) patients in western Denmark and to identify prognostic factors for overall survival and recurrence in HNS patients. MATERIALS AND METHODS: The Aarhus sarcoma registry, The National Danish Sarcoma Database, and the Danish National Pathology Registry were used to identify HNS adult patients diagnosed between 1979 and 2022...
April 27, 2024: Clinical Oncology: a Journal of the Royal College of Radiologists
https://read.qxmd.com/read/38744258/clinical-characteristics-of-children-with-thra-mutations-variable-phenotype-and-good-response-to-rhgh-therapy
#6
Nathalia Liberatoscioli Menezes Andrade, Raissa Carneiro Rezende, Lindiane Gomes Crisostomo, Naiara C B Dantas, Laurana Polli Cellin, Vinicius Souza, Elisangela P S Quedas, Antonio Marcondes Lerario, Gabriela A Vasques, Alexander Jorge
INTRODUCTION: Mutations in the thyroid hormone receptor alpha (THRA) gene are a rare cause of thyroid hormone resistance, which leads to a pleomorphic phenotypic spectrum. Hormonal profiles are variable and subtle, making laboratory diagnoses challenging. Genetic evaluation can be a helpful tool in diagnosing these cases. CASE PRESENTATION: Three patients (P1, P2 and P3) from unrelated families presented to their endocrinologists with short stature and abnormalities in thyroid function results...
May 14, 2024: Hormone Research in Pædiatrics
https://read.qxmd.com/read/38742872/loss-of-yhcb-results-in-overactive-fatty-acid-biosynthesis
#7
JOURNAL ARTICLE
Hannah M Stanley, M Stephen Trent
Loss of the Escherichia coli inner membrane protein YhcB results in pleomorphic cell morphology and clear growth defects. Prior work suggested that YhcB was directly involved in cell division or peptidoglycan assembly. We found that loss of YhcB is detrimental in genetic backgrounds in which lipopolysaccharide (LPS) or glycerophospholipid (GPL) synthesis is altered. The growth defect of Δ yhcB could be rescued through inactivation of the Mla pathway, a system responsible for the retrograde transport of GPLs that are mislocalized to the outer leaflet of the outer membrane...
May 14, 2024: MBio
https://read.qxmd.com/read/38741621/malignant-transformation-of-an-ovarian-mature-cystic-teratoma-to-a-malignant-melanoma
#8
Rita Rathore, Sana Ahuja, Nuneno Nakhro, Pallavi Punhani, Sufian Zaheer
Ovarian mature cystic teratomas comprise tissue derived from all three germ layers and constitute 10-20% of all ovarian neoplasms. Malignant transformation of mature cystic teratomas (MCT) is very rare with an incidence of 0.17-2%. The most frequently reported malignancies include squamous cell carcinoma and adenocarcinoma. Herein, we describe a case of a 56-year-old female who presented with abdominal pain and underwent total abdominal hysterectomy with bilateral oophorectomy and omentectomy for a ruptured dermoid cyst...
June 2024: Indian Journal of Surgical Oncology
https://read.qxmd.com/read/38739097/extensive-intraocular-melanoma-with-secondary-glaucoma-in-a-15-month-old-thoroughbred-filly
#9
JOURNAL ARTICLE
Regina Pereira, Stephanie Gillespie, Giulia Rapezzano, Jonathan Withers, Marco Duz, Alastair Foote
A 15-month-old, grey, Thoroughbred filly presented for investigation of a 6-week history of corneal oedema and blepharospasm on the right eye (OD). The filly was otherwise healthy. Following ophthalmic examination, glaucoma on the OD was diagnosed. A space occupying mass within the anterior chamber was documented on transpalpebral ultrasonographic examination. This mass obliterated most of the anterior intraocular structures on the peripheral nasal side (corneal endothelium and drainage angle), leading to secondary glaucoma...
May 2024: Veterinary Medicine and Science
https://read.qxmd.com/read/38738722/presumed-lacrimal-gland-pleomorphic-adenoma-with-extensive-ossification-and-necrosis
#10
JOURNAL ARTICLE
Laura Hughes, Penelope A McKelvie, Alan A McNab
Calcification within pleomorphic adenomas of the lacrimal gland is well recognized but uncommon, being seen more readily in lacrimal gland carcinomas. Bony formation, ossification, in pleomorphic adenomas of the lacrimal glands is even rarer. Together with extensive sclerosis, or "coagulative necrosis," ossification and necrosis should alert the clinician to the risk of malignant transformation. However, both can mimic carcinomatous change, leading to misinterpretation of malignancy in an otherwise benign lacrimal gland neoplasm...
May 2024: Ophthalmic Plastic and Reconstructive Surgery
https://read.qxmd.com/read/38736497/effect-of-histological-subtype-on-the-efficacy-of-perioperative-chemotherapy-in-pulmonary-sarcomatoid-carcinoma-a-retrospective-study-based-on-seer-population
#11
JOURNAL ARTICLE
Tengyong Wang, Zihuai Wang, Jian Zhou, Zongyuan Li, Hu Liao, Jiandong Mei, Qiang Pu, Lunxu Liu
BACKGROUND: The efficacy of perioperative chemotherapy (PC) in pulmonary sarcomatoid carcinoma (PSC) is controversial. We conducted this study to investigate the effect of different histological subtypes on the efficacy of PC in PSC patients. METHODS: Clinicopathological data of 811 PSC patients of different histological subtypes were collected from the Surveillance, Epidemiology, and End Results (SEER) database. Kaplan-Meier method and log-rank test were used to evaluate the effects of PC on the overall survival (OS) and cancer-specific survival (CSS) in different subtypes of PSC patients...
April 29, 2024: Translational Lung Cancer Research
https://read.qxmd.com/read/38736174/proliferating-inverted-follicular-keratosis-of-genital-skin-case-series-of-a-challenging-variant
#12
JOURNAL ARTICLE
Chelsea Huang, Mason Runge, Steven M Hrycaj, Paul W Harms, Douglas R Fullen, May P Chan
BACKGROUND: Inverted follicular keratosis (IFK) is a benign cutaneous epithelial tumor typically presenting as a small papule on the head and neck. We have encountered deep endophytic tumors on genital skin with some characteristics of IFK but also atypical features, raising concern for squamous cell carcinoma (SCC). METHODS: Four such tumors were identified in our database. Histopathologic analysis and ancillary studies were performed. RESULTS: All patients were young women who presented with a solitary 0...
May 12, 2024: Journal of Cutaneous Pathology
https://read.qxmd.com/read/38736105/sarcomatoid-and-rhabdoid-renal-cell-carcinoma-clinical-pathologic-and-molecular-genetic-features
#13
JOURNAL ARTICLE
Adebowale J Adeniran, Brian Shuch, Peter A Humphrey
Renal cell carcinoma (RCC) with sarcomatoid and rhabdoid morphologies has an aggressive biological behavior and a typically poor prognosis. The current 2022 WHO classification of renal tumors does not include them as distinct histologic entities but rather as transformational changes that may arise in a background of various distinct histologic types of RCC. The sarcomatoid component shows malignant spindle cells that may grow as intersecting fascicles, which is reminiscent of pleomorphic undifferentiated sarcoma...
May 13, 2024: American Journal of Surgical Pathology
https://read.qxmd.com/read/38733471/multiparametric-approach-with-synthetic-mr-imaging-for-diagnosing-salivary-gland-lesions
#14
JOURNAL ARTICLE
Koji Takumi, Ryota Nakanosono, Hiroaki Nagano, Hiroto Hakamada, Fumiko Kanzaki, Kiyohisa Kamimura, Masatoyo Nakajo, Yukari Eizuru, Hiromi Nagano, Takashi Yoshiura
PURPOSE: To determine whether synthetic MR imaging can distinguish between benign and malignant salivary gland lesions. METHODS: The study population included 44 patients with 33 benign and 11 malignant salivary gland lesions. All MR imaging was obtained using a 3 Tesla system. The QRAPMASTER pulse sequence was used to acquire images with four TI values and two TE values, from which quantitative images of T1 and T2 relaxation times and proton density (PD) were generated...
May 11, 2024: Japanese Journal of Radiology
https://read.qxmd.com/read/38733379/identification-of-cd5-sox11-double-negative-pleomorphic-mantle-cell-lymphoma
#15
JOURNAL ARTICLE
Wen-Yu Chuang, Hung Chang, Lee-Yung Shih, Tsung-Chieh Lin, Chi-Ju Yeh, Shir-Hwa Ueng, Ming-Chung Kuo, Hsiao-Wen Kao, Hsuan Liu, Sheng-Tsung Chang, Chih-Ling Lee, Kuan-Po Huang, Tong-Hong Wang, Yung-Liang Wan, Jau-Song Yu, Chuen Hsueh, Shih-Sung Chuang
Cyclin D1 protein-positive diffuse large B cell lymphoma (DLBCL) has an immunophenotype of CD5(-) cyclin D1(+) SOX11(-), and most cases lack a CCND1 rearrangement and have a gene expression profile of DLBCL. Rarely, cyclin D1 protein-positive DLBCL harbors a CCND1 rearrangement, and some genetic copy number features typical of mantle cell lymphoma (MCL) have been detected. Since gene expression studies have not been performed, whether such CCND1-rearranged cases represent cyclin D1 protein-positive DLBCL or CD5/SOX11 double-negative pleomorphic MCL remains unclear...
May 11, 2024: Virchows Archiv: An International Journal of Pathology
https://read.qxmd.com/read/38732373/cd3-and-cd20-expressions-and-infiltrating-patterns-in-salivary-gland-tumors
#16
JOURNAL ARTICLE
Rukhsar R Hussein, Balkees T Garib
Tumor-infiltrating lymphocytes (TILs) represent a subset of immunological constituents within the tumor microenvironment that can influence cancer growth. We retrospectively evaluate the density and pattern of CD3 and CD20 expression in salivary gland tumors and their relation to clinical pathologic parameters. A total of 44 formalin-fixed paraffin-embedded blocks of salivary gland tumors were included. These tumors were stained immunohistochemically with CD3 and CD20. The chi-square test was used to relate immune scoring, intensity, and clinical pathological parameters to different salivary tumors...
May 3, 2024: Diagnostics
https://read.qxmd.com/read/38730715/high-grade-pleomorphic-sarcomas-treated-with-immune-checkpoint-blockade-the-md-anderson-cancer-center-experience
#17
JOURNAL ARTICLE
Lewis F Nasr, Marianne Zoghbi, Rossana Lazcano, Michael Nakazawa, Andrew J Bishop, Ahsan Farooqi, Devarati Mitra, Beverly Ashleigh Guadagnolo, Robert Benjamin, Shreyaskumar Patel, Vinod Ravi, Dejka M Araujo, Andrew Livingston, Maria A Zarzour, Anthony P Conley, Ravin Ratan, Neeta Somaiah, Alexander J Lazar, Christina Roland, Emily Z Keung, Elise F Nassif Haddad
BACKGROUND: Undifferentiated pleomorphic sarcomas (UPSs) are amongst the most common subtypes of soft-tissue sarcomas. Few real-world data on the use of immune checkpoint blockade (ICB) in UPS patients and other high-grade pleomorphic STS patients are available. PURPOSE: The purpose of our study is to describe the efficacy and toxicity of ICB in patients with advanced UPSs and other high-grade pleomorphic sarcomas treated at our institution. METHODS: This is a retrospective, observational study of all patients with metastatic high-grade pleomorphic sarcomas treated with FDA-approved ICB at MD Anderson Cancer Center between 1 January 2015 and 1 January 2023...
May 1, 2024: Cancers
https://read.qxmd.com/read/38727414/leiomyosarcoma-of-the-esophagus-arising-from-lamina-muscularis-mucosae-in-a-combination-with-microinvasive-squamous-cell-carcinoma-a-case-report
#18
JOURNAL ARTICLE
Desislava M Bozhkova, Anastas P Chapkanov, Maria S Koleva
Leiomyosarcoma of the esophagus is a very rare disease, accounting for less than 0.5% of malignant esophageal tumors. Esophageal leiomyosarcoma combined with squamous cell carcinoma is even rarer than solitary leiomyosarcoma. To our knowledge, there are less than ten cases of simultaneously diagnosed leiomyosarcoma and squamous cell carcinoma of the esophagus. A 66-year-old male was admitted to our hospital suffering from epigastric pain, asthenia, weight loss, and difficulties when feeding with solid food which had been present for 2 weeks...
May 10, 2024: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/38724279/-68-ga-fibroblast-activation-protein-inhibitor-pet-ct-improves-detection-of-intermediate-and-low-grade-sarcomas-and-identifies-candidates-for-radiopharmaceutical-therapy
#19
JOURNAL ARTICLE
Helena Lanzafame, Ilektra A Mavroeidi, Kim M Pabst, Mélanie Desaulniers, Marc Ingenwerth, Nader Hirmas, Lukas Kessler, Michael Nader, Timo Bartel, Stephan Leyser, Francesco Barbato, Martin Schuler, Sebastian Bauer, Jens T Siveke, Ken Herrmann, Rainer Hamacher, Wolfgang P Fendler
Fibroblast activation protein-α (FAP) is often highly expressed by sarcoma cells and by sarcoma-associated fibroblasts in the tumor microenvironment. This makes it a promising target for imaging and therapy. The level of FAP expression and the diagnostic value of 68 Ga-FAP inhibitor (FAPI) PET for sarcoma subtypes are unknown. We assessed the diagnostic performance and accuracy of 68 Ga-FAPI PET in various bone and soft-tissue sarcomas. Potential eligibility for FAP-targeted radiopharmaceutical therapy (FAP-RPT) was evaluated...
May 9, 2024: Journal of Nuclear Medicine
https://read.qxmd.com/read/38723776/tracing-tumor-heterogeneity-of-pleomorphic-carcinoma-of-the-lung
#20
JOURNAL ARTICLE
Luca Roma, Caner Ercan, Floriana Conticelli, Nalan Akyürek, Spasenija Savic Prince, Kirsten D Mertz, Joachim Diebold, Didier Lardinois, Salvatore Piscuoglio, Charlotte Ky Ng, Lukas Bubendorf
BACKGROUND: Pulmonary pleomorphic carcinoma (PPC) is an aggressive and highly heterogeneous non-small-cell lung carcinoma whose underlying biology is still poorly understood. METHODS: Forty-two tumor areas from 20 PPC patients were microdissected, including 39 primary tumors and 3 metastases and the histologically distinct components were subjected to whole exome sequencing (WES) separately. We further performed in silico analysis of microdissected bulk RNAseq and methylation data of 28 samples from 14 PPC patients...
May 7, 2024: Journal of Thoracic Oncology
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