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Difficult airway due to multiple sclerotic fibromas in a patient with Cowden's syndrome.
Rev Esp Anestesiol Reanim (Engl Ed)
December 2024
Servicio de Anestesiología, Reanimacióny Terapéutica del Dolor, Hospital Clínic de Barcelona, Barcelona, Spain.
Dysplastic ganglion cell tumor of the right cerebellum: A case report and literature review.
Medicine (Baltimore)
December 2024
Department of Neurosurgery, The First Affiliated Hospital of Shihezi University, Shihezi, China.
Rationale: This study aims to present a case of cerebellar dysplastic ganglioneuroma, which is commonly referred to as Lhermitte-Duclos disease (LDD). Furthermore, the study aims to provide an extensive review of the essential aspects of LDD, thereby providing essential information for its accurate diagnosis and effective treatment.
Patient Concerns: A 54-year-old woman was admitted with symptoms of headache, facial numbness, and a visible cerebellar mass.
Prevalence of the major thyroid cancer-associated syndromes in the United States.
medRxiv
December 2024
Division of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Importance: A subset of thyroid cancers develops in a setting of a known hereditary cancer-associated syndrome. Understanding the population prevalence of thyroid cancer-associated syndromes is important to guide germline genetic testing and clinical management.
Objective: To estimate the prevalence of the major thyroid cancer-associated syndromes in the United States using the All of Us Research Program (AoU) data.
Cancer and disease profiles for PTEN pathogenic variants in Japanese population.
J Hum Genet
December 2024
Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
A germline alteration in the PTEN gene causes a spectrum of disorders conceptualized as PTEN hamartoma tumor syndrome (PHTS), which show high risk of tumor development and a highly variable and complex phenotype. The diagnosis of PHTS is established in a proband by identification of a heterozygous germline PTEN pathogenic variant on molecular genetic testing. In this study, to understand more PTEN-associated clinical phenotype and PHTS in a Japanese population, we extracted 128 germline PTEN rare variants from 113,535 adult Japanese registered in Biobank Japan (BBJ), and categorized 29 pathogenic/likely pathogenic variants in 30 individuals (0.
View Article and Find Full Text PDFClinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.
Pathology
October 2024
Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) is a hereditary cancer syndrome mainly caused by PTEN gene variants, significantly increasing breast cancer risk for female carriers (up to 80%).
- A study tracked breast biopsies of 14 females with these gene variants over 28 years, finding high rates of breast cancer diagnoses (85.7%) with an average initial diagnosis age of 41.6.
- The research highlights that breast cancer in PHTS does not have distinctive features, emphasizing the need for healthcare professionals to familiarize themselves with these cases for better early recognition and management.
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