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Undifferentiated pleomorphic sarcoma in the maxillary sinus: a case report.
J Med Case Rep
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Background: Undifferentiated pleomorphic sarcoma, previously called malignant fibrous histiocytoma, is a type of malignant mesenchymal tumor (sarcoma) of soft tissue and sometimes bone. It is uncommon in the oral cavity and very sporadic in the maxillary sinus. Microscopic diagnosis of this malignancy in the maxillary sinus can be very challenging, because there is a range of features that may overlap with other benign and malignant tumors.
View Article and Find Full Text PDFCritical Acute Left Ventricular Outflow Tract Obstruction Due to Cardiac Sarcoma.
JACC Case Rep
January 2025
Department of Cardiovascular Disease, Mayo Clinic, Rochester, Minnesota, USA.
Left ventricular outflow tract (LVOT) obstruction is mostly caused by hypertrophic obstructive cardiomyopathy and subaortic stenosis. Rarely, malignancy can lead to dynamic LVOT obstruction and has only been sporadically documented. We present the first case of dynamic and/or nearly fixed LVOT obstruction caused by a cardiac myxoid spindle cell sarcoma.
View Article and Find Full Text PDFImmature Smooth Muscle Infiltration in Sporadic Lymphangioleiomyomatosis: A Case Study.
S D Med
November 2024
Sanford USD Medical Center, Sioux Falls, South Dakota.
Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that causes progressive pulmonary damage. It typically affects young reproductive-age females with tuberous sclerosis complex (TSC). The clinical manifestations of LAM result from the progressive invasion of abnormal smooth muscle cells into lung parenchyma, lymphatics, or pulmonary vasculature.
View Article and Find Full Text PDFGenomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations and a High Burden of Germline POT1Alterations.
Clin Cancer Res
January 2025
Brigham and Women's Hospital, Boston, United States.
Purpose: Cardiac angiosarcoma (CAS) is a rare, aggressive malignancy with limited treatment options. Both sporadic and familial cases occur, with recent links to germline POT1 mutations. The genomic landscape of this disease is poorly understood.
View Article and Find Full Text PDFMultidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Orphanet J Rare Dis
January 2025
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.
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