keyword
https://read.qxmd.com/read/38542490/flow-cytometry-analysis-in-breast-implant-associated-anaplastic-large-cell-lymphoma-three-case-reports
#21
Veronica Davanzo, Alessandra Falda, Paola Fogar, Kathrin Ludwig, Jenny Zuin, Maria Cristina Toffanin, Marco Pizzi, Angelo Paolo Dei Tos, Daniela Basso
Breast Implant-Associated-Anaplastic Large Cell Lymphoma (BIA-ALCL) is a rare T-cell non-Hodgkin lymphoma associated with breast prosthetic implants and represents a diagnostic challenge. The National Comprehensive Cancer Network (NCCN) guidelines, updated in 2024, recommend for diagnosis an integrated work-up that should include cell morphology, CD30 immunohistochemistry (IHC), and flow cytometry (FCM). CD30 IHC, although the test of choice for BIA-ALCL diagnosis, is not pathognomonic, and this supports the recommendation to apply a multidisciplinary approach...
March 20, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38542413/onco-hypertension-a-continuously-developing-field-between-cancer-and-hypertension
#22
REVIEW
Stefan Totolici, Ana-Maria Vrabie, Elisabeta Badila, Emma Weiss
The prognosis of cancer patients has greatly improved in the last years, owing to the development of novel chemotherapeutic agents. However, this progress comes with an increasing occurrence of cardiovascular adverse reactions. A serious side effect is arterial hypertension (HT), which is the most frequent comorbidity encountered in cancer patients, influencing the outcomes in cancer survivors. Even though secondary HT related to specific chemotherapeutic agents, such as vascular endothelial growth factor inhibitors, is usually mild and reversible, in rare instances it can be severe, leading to discontinuation of chemotherapy...
March 19, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38542328/targeting-sphingosine-1-phosphate-signaling-in-breast-cancer
#23
REVIEW
Masayuki Nagahashi, Yasuo Miyoshi
In recent years, newly emerging therapies, such as immune checkpoint inhibitors and antibody-drug conjugates, have further improved outcomes for breast cancer patients. However, recurrent and metastatic breast cancer often eventually develops resistance to these drugs, and cure is still rare. As such, the development of new therapies for refractory breast cancer that differ from conventional mechanisms of action is necessary. Sphingosine-1-phosphate (S1P) is a key molecule with a variety of bioactive activities, including involvement in cancer cell proliferation, invasion, and metastasis...
March 15, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38542255/environmental-pollution-and-risk-of-childhood-cancer-a-scoping-review-of-evidence-from-the-last-decade
#24
REVIEW
María Del Pilar Navarrete-Meneses, Consuelo Salas-Labadía, Fernando Gómez-Chávez, Patricia Pérez-Vera
The long-term effects of environmental pollution have been of concern as several pollutants are carcinogenic, potentially inducing a variety of cancers, including childhood cancer, which is a leading cause of death around the world and, thus, is a public health issue. The present scoping review aimed to update and summarize the available literature to detect specific environmental pollutants and their association with certain types of childhood cancer. Studies published from 2013 to 2023 regarding environmental pollution and childhood cancer were retrieved from the PubMed database...
March 14, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38542012/an-interpretable-machine-learning-framework-for-rare-disease-a-case-study-to-stratify-infection-risk-in-pediatric-leukemia
#25
JOURNAL ARTICLE
Irfan Al-Hussaini, Brandon White, Armon Varmeziar, Nidhi Mehra, Milagro Sanchez, Judy Lee, Nicholas P DeGroote, Tamara P Miller, Cassie S Mitchell
Background : Datasets on rare diseases, like pediatric acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), have small sample sizes that hinder machine learning (ML). The objective was to develop an interpretable ML framework to elucidate actionable insights from small tabular rare disease datasets. Methods : The comprehensive framework employed optimized data imputation and sampling, supervised and unsupervised learning, and literature-based discovery (LBD). The framework was deployed to assess treatment-related infection in pediatric AML and ALL...
March 20, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38541652/ras-mitogen-activated-protein-kinase-signaling-pathway-in-testicular-germ-cell-tumors
#26
REVIEW
Angelo Onorato, Eugenia Guida, Ambra Colopi, Susanna Dolci, Paola Grimaldi
Germ cell tumors (GCTs) are relatively rare tumors. However, they are the most diagnosed malignancies occurring in the testis among men aged between 15 and 40 years. Despite high aneuploidy and a paucity of somatic mutations, several genomic and transcriptomic assays have identified a few significantly mutated somatic genes, primarily KIT and K-RAS. The receptor Tyrosine Kinase (RTK) pathway and the downstream related Mitogen-Activated Protein Kinase (MAPK) cascades are crucial signal transduction pathways that preside over various cellular processes, including proliferation, differentiation, apoptosis, and responses to stressors...
February 29, 2024: Life
https://read.qxmd.com/read/38541623/structural-and-dynamic-analyses-of-pathogenic-variants-in-pik3r1-reveal-a-shared-mechanism-associated-among-cancer-undergrowth-and-overgrowth-syndromes
#27
JOURNAL ARTICLE
Nikita R Dsouza, Catherine E Cottrell, Olivia M T Davies, Megha M Tollefson, Ilona J Frieden, Donald Basel, Raul Urrutia, Beth A Drolet, Michael T Zimmermann
The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular anomalies and overgrowth syndromes. Germline PIK3R1 variants are associated with varying phenotypes, including immunodeficiency or facial dysmorphism with growth delay, lipoatrophy, and insulin resistance associated with SHORT syndrome. There has been limited study of the molecular mechanism to unify our understanding of how variants in PIK3R1 drive both undergrowth and overgrowth phenotypes...
February 23, 2024: Life
https://read.qxmd.com/read/38541125/symptomatic-calcifications-after-mastectomy-a-rare-case-report-with-a-review-of-the-literature
#28
Jan Žatecký, Oldřich Coufal, Dobroslav Sekret, Matúš Peteja
Introduction : Symptomatic calcifications of the breast or skin after breast cancer surgery and adjuvant radiotherapy are a rare entity, with only a few case reports published worldwide, reducing the patient's quality of life, whilst asymptomatic calcifications are a common finding on imaging methods. Case presentation : Herein, we present a rare case report of calcifications after mastectomy and post-mastectomy radiation therapy causing chronic inflammation with ulceration and fistula formation, with a two-step surgical approach consisting of excision with linear suture and excision with the reconstruction using a thoraco-epigastric flap...
February 26, 2024: Medicina
https://read.qxmd.com/read/38541097/multiple-keratoacanthoma-like-syndromes-case-report-and-literature-review
#29
REVIEW
Emmanouil Karampinis, Christina Kostopoulou, Olga Toli, Leonidas Marinos, George Papadimitriou, Angeliki Victoria Roussaki Schulze, Efterpi Zafiriou
Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson-Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir-Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions' undefined nature, and the co-existence of other malignant skin tumors...
February 22, 2024: Medicina
https://read.qxmd.com/read/38540999/genome-sequencing-of-multiple-primary-lung-cancers-harbouring-mixed-histology-and-spontaneously-regressing-small-cell-lung-cancer
#30
Valentina Thomas, Ahmed Rashed, Clare Faul, Siobhan Nicholson, Vincent Young, John Hanson, Bryan T Hennessy, Sinead Toomey, Simon J Furney
Up to 15% of lung cancer patients present two or more anatomically separate primary lung lesions, known as multiple primary lung cancers (MPLCs). While surgical resection or stereotactic body radiation therapy (SBRT) is the standard of care for most early-stage lung cancer cases, this may not be an option for patients with widespread tumours, highlighting the need for the improved targeted management of MPLC patients, which remains challenging. Moreover, the spontaneous regression (SR) of small-cell lung cancer (SCLC) is rare, with only four cases accounted for between 1988 and 2018...
February 28, 2024: Journal of Personalized Medicine
https://read.qxmd.com/read/38540335/genetic-risk-factors-and-clinical-outcomes-in-childhood-eye-cancers-a-review
#31
REVIEW
Syed Hameed, Angeli Christy Yu, Bashaer Almadani, Shereen Abualkhair, Khabir Ahmad, Giorgio Zauli
Childhood eye cancers, although rare, present substantial health challenges, affecting the pediatric population with a remarkable impact on their lives and families. This comprehensive review provides insights into the various types of ocular tumors, primarily focusing on malignant eye tumors, their genetic predispositions, and advancements in managing these conditions. Understanding the genetic risk factors is crucial for early detection, risk assessment, and the development of targeted therapies. This review discusses genome-wide association (GWAS) and next-generation sequencing (NGS) studies to find common and rare genetic variants...
February 22, 2024: Genes
https://read.qxmd.com/read/38540269/eosinophilic-myocarditis-from-bench-to-bedside
#32
REVIEW
Francesco Piccirillo, Sara Mastroberardino, Vincenzo Nafisio, Matteo Fiorentino, Andrea Segreti, Annunziata Nusca, Gian Paolo Ussia, Francesco Grigioni
Myocarditis is a polymorphic and potentially life-threatening disease characterized by a large variability in clinical presentation and prognosis. Within the broad spectrum of etiology, eosinophilic myocarditis represents a rare condition characterized by eosinophilic infiltration of the myocardium, usually associated with peripheral eosinophilia. Albeit uncommon, eosinophilic myocarditis could be potentially life-threatening, ranging from mild asymptomatic disease to multifocal widespread infiltrates associated with myocardial necrosis, thrombotic complications, and endomyocardial fibrosis...
March 14, 2024: Biomedicines
https://read.qxmd.com/read/38539559/her2-and-pd-l1-expression-in-gastric-and-gastroesophageal-junction-cancer-insights-for-combinatorial-targeting-approaches
#33
JOURNAL ARTICLE
Marta Baptista Freitas, Irene Gullo, Dina Leitão, Lúcia Águas, Carla Oliveira, António Polónia, Joana Gomes, Fátima Carneiro, Celso Albuquerque Reis, Henrique Oliveira Duarte
Gastric and gastroesophageal junction adenocarcinomas (GA/GEJA) are associated with a poor prognosis, primarily due to late disease diagnosis. Human Epidermal Growth Factor Receptor 2 (HER2) overexpression and programmed death-ligand 1 (PD-L1) expression are important biomarkers for treatment selection in locally advanced unresectable and metastatic GA/GEJA, and there is increasing interest in their role in earlier stages of disease. In this study, we aimed to evaluate HER2 and PD-L1 expression in a curative-intent GA/GEJA cohort to describe their expression patterns and analyze the association between HER2 expression and clinicopathological features...
March 20, 2024: Cancers
https://read.qxmd.com/read/38539539/exploring-immunological-effects-and-novel-immune-adjuvants-in-immunotherapy-for-salivary-gland-cancers
#34
REVIEW
Ryosuke Sato, Hidekiyo Yamaki, Hiroki Komatsuda, Risa Wakisaka, Takahiro Inoue, Takumi Kumai, Miki Takahara
Salivary gland cancer (SGC) is rare and comprises over 20 histological subtypes. Recently, clinical experience regarding immunotherapies for SGCs has been accumulating, yet their efficacy remains controversial. Understanding the tumor microenvironment (TME), including the expression of immune checkpoint molecules in SGC, is crucial to optimizing immunotherapy. In this review, we demonstrate that high-grade mucoepidermoid carcinoma and salivary duct carcinoma generally exhibit immune-hot TME with high immune cell infiltration, frequent genetic mutations, and robust immune checkpoint molecule expression...
March 19, 2024: Cancers
https://read.qxmd.com/read/38539538/immunoprofiles-and-oncologic-outcomes-of-15-patients-with-androgen-receptor-positive-salivary-duct-carcinoma
#35
JOURNAL ARTICLE
Emile Gogineni, Blake E Sells, Khaled Dibs, Sachin R Jhawar, Catherine T Haring, Abberly L Limbach, David J Konieczkowski, Sung J Ma, Simeng Zhu, Sujith Baliga, Darrion L Mitchell, John C Grecula, Marcelo Bonomi, Priyanka Bhateja, Matthew O Old, Nolan B Seim, Stephen Y Kang, James W Rocco, Arnab Chakravarti, Dukagjin M Blakaj, Mauricio E Gamez
BACKGROUND: Salivary duct carcinomas (SDC) are a rare and aggressive subtype of salivary gland neoplasm. They can present with distinct immunoprofiles, such as androgen receptor (AR) and HER-2/Neu-positivity. To date, no consensus exists on how to best manage this entity. METHODS: All patients diagnosed with nonmetastatic AR+ SDC of the parotid from 2013 to 2019 treated with curative intent were included. Immunologic tumor profiling was conducted using 24 distinct markers...
March 19, 2024: Cancers
https://read.qxmd.com/read/38539460/therapeutic-potential-of-bromodomain-and-extra-terminal-domain-inhibitors-for-synovial-sarcoma-cells
#36
JOURNAL ARTICLE
Yuki Kotani, Yoshinori Imura, Sho Nakai, Ryota Chijimatsu, Haruna Takami, Akitomo Inoue, Hirokazu Mae, Satoshi Takenaka, Hidetatsu Outani, Seiji Okada
Synovial sarcoma (SS), a rare subtype of soft-tissue sarcoma distinguished by expression of the fusion gene SS18-SSX, predominantly affects the extremities of young patients. Existing anticancer drugs have limited efficacy against this malignancy, necessitating the development of innovative therapeutic approaches. Given the established role of SS18-SSX in epigenetic regulation, we focused on bromodomain and extra-terminal domain protein (BET) inhibitors and epigenetic agents. Our investigation of the BET inhibitor ABBV-075 revealed its pronounced antitumor effects, inducing G1-phase cell-cycle arrest and apoptosis, in four SS cell lines...
March 11, 2024: Cancers
https://read.qxmd.com/read/38539450/upper-tract-urothelial-cancer-guideline-of-guidelines
#37
REVIEW
Savio Domenico Pandolfo, Simone Cilio, Achille Aveta, Zhenjie Wu, Clara Cerrato, Luigi Napolitano, Francesco Lasorsa, Giuseppe Lucarelli, Paolo Verze, Salvatore Siracusano, Carmelo Quattrone, Matteo Ferro, Eugenio Bologna, Riccardo Campi, Francesco Del Giudice, Riccardo Bertolo, Daniele Amparore, Sara Palumbo, Celeste Manfredi, Riccardo Autorino
BACKGROUND: Upper tract urothelial carcinoma (UTUC) is a rare disease with a potentially dismal prognosis. We systematically compared international guidelines on UTUC to analyze similitudes and differences among them. METHODS: We conducted a search on MEDLINE/PubMed for guidelines related to UTUC from 2010 to the present. In addition, we manually explored the websites of urological and oncological societies and journals to identify pertinent guidelines. We also assessed recommendations from the International Bladder Cancer Network, the Canadian Urological Association, the European Society for Medical Oncology, and the International Consultation on Bladder Cancer, considering their expertise and experience in the field...
March 11, 2024: Cancers
https://read.qxmd.com/read/38539441/malignant-brenner-tumor-of-the-ovary-a-systematic-review-of-the-literature
#38
REVIEW
Nektarios I Koufopoulos, Abraham Pouliakis, Menelaos G Samaras, Christakis Kotanidis, Ioannis Boutas, Adamantia Kontogeorgi, Dionysios Dimas, Kyparissia Sitara, Andriani Zacharatou, Argyro-Ioanna Ieronimaki, Aris Spathis, Danai Leventakou, Magda Zanelli, Ioannis S Pateras, Ioannis G Panayiotides, Andrea Palicelli, John Syrios
BACKGROUND: Malignant Brenner tumors are rare ovarian tumors, accounting for less than 1% of malignant ovarian neoplasms. The aim of this manuscript is to systematically review the current literature concerning malignant Brenner tumors. METHODS: We searched three medical databases (PubMed, Scopus, and Web of Science) for relevant articles published until 15 September 2023. RESULTS: After applying inclusion and exclusion criteria, 48 manuscripts describing 115 cases were included in this study from the English literature...
March 9, 2024: Cancers
https://read.qxmd.com/read/38539434/vascular-morbidity-and-mortality-in-craniopharyngioma-patients-a-scoping-review
#39
REVIEW
Julia Beckhaus, Carsten Friedrich, Hermann L Müller
Craniopharyngioma (CP) treatment, including surgery and radiotherapy, can have short- and long-term vascular side effects. Hypothalamic damage is related to morbid obesity and may increase the lifelong risk of experiencing vascular events in CP patients. This review summarized the available evidence regarding vascular complications in adamantinomatous or papillary CP patients, whatever their age at diagnosis. Three databases (Medline, CINAHL, Web of Science) were searched (06/2023) to retrieve eligible articles...
March 8, 2024: Cancers
https://read.qxmd.com/read/38539430/chronic-lymphocytic-leukemia-cll-with-borderline-immunoglobulin-heavy-chain-mutational-status-a-rare-subgroup-of-cll-with-variable-disease-course
#40
JOURNAL ARTICLE
Francesco Angotzi, Alessandro Cellini, Valeria Ruocco, Chiara Adele Cavarretta, Ivan Zatta, Andrea Serafin, Stefano Pravato, Elisa Pagnin, Laura Bonaldi, Federica Frezzato, Monica Facco, Francesco Piazza, Livio Trentin, Andrea Visentin
Chronic lymphocytic leukemia (CLL) exhibits substantial variability in disease course. The mutational status of the B-cell receptor immunoglobulin heavy variable (IGHV) chain is a critical prognostic factor, categorizing patients into mutated (M-IGHV) and unmutated (U-IGHV) groups. Recently, a third subgroup with borderline mutational status (BL-IGHV) has been identified, comprising approximately 5% of CLL cases. This study retrospectively analyzes the outcomes of 30 BL-IGHV mutated patients among a cohort of 653 CLL patients, focusing on time to first treatment (TTFT) and overall survival (OS)...
March 8, 2024: Cancers
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