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Comprehensive Molecular Characterization of a Large Series of Calcified Chondroid Mesenchymal Neoplasms Widening Their Morphologic Spectrum.
Am J Surg Pathol
August 2024
Department of Pathology, Timone University Hospital, Marseille.
Recently, FN1 fusions to receptor tyrosine kinase genes have been identified in soft tissue tumors with calcified chondroid matrix named calcifying chondroid mesenchymal neoplasms (CCMNs). We collected 33 cases of CCMN from the French network for soft tissue and bone tumors. We performed whole-exome RNA sequencing, expression analysis, and genome-wide DNA methylation profiling in 33, 30, and 20 cases of CCMN compared with a control group of tumors, including noncalcified tenosynovial giant cell tumor (TGCT).
View Article and Find Full Text PDFPhosphaturic mesenchymal tumor: A chondromyxoid fibroma-like type.
J Dermatol
November 2023
Department of Clinical Pathology, Pathological Diagnosis Center, Fukuoka Tokushukai Hospital, Fukuoka, Japan.
Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that causes tumor-induced osteomalasia (TIO) in most affected patients, usually through the production of fibroblast growth factor 23 (FGF23). This tumor is often misdiagnosed due to its relative rarity and its widely varied histomorphologic spectrum. Here we describe a case of a 78-year-old woman who presented with a left middle tumor without symptoms of TIO.
View Article and Find Full Text PDFImaging characteristics of phosphaturic mesenchymal tumors.
Acta Radiol
June 2023
Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, India.
Background: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome associated with phosphaturic mesenchymal tumors (PMTs). Localization of the causative tumor in these cases is an arduous task since the culprit lesions are usually small, slow-growing, and can be located almost anywhere from head to toe.
Purpose: To describe the morphological characteristics of histologically proven PMTs on various radiological modalities.
Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1).
J Clin Endocrinol Metab
September 2022
Lady Davis Institute for Medical Research, CIUSSS de Centre-Ouest-de-l'île-de-Montréal, Jewish General Hospital, McGill University, Montréal, Quebec, H3T 1E2, Canada.
Context: Autosomal recessive hypophosphatemic rickets (ARHR) are rare, heritable renal phosphate-wasting disorders that arise from overexpression of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23) leading to impaired bone mineralization (rickets and osteomalacia). Inactivating mutations of Dentin matrix protein 1 (DMP1) give rise to ARHR type 1 (ARHR1). Short stature, prominent bowing of the legs, fractures/pseudofractures, and severe enthesopathy are prominent in this patient population.
View Article and Find Full Text PDFPindborg Tumor-An Uncommon Odontogenic Tumor Detected by 68Ga-DOTATOC.
Diagnostics (Basel)
February 2022
Department of Nuclear Medicine, Chariteé-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
A 62-year-old-woman with a suspected Tumor-induced-osteomalacia (TIO), a rare neoplastic syndrome that results in renal phosphate wasting with hypophosphatemia, underwent Ga-DOTATOC PET/CT on the suspicion of a mesenchymal tumor producing Fibroblast growth factor 23 (FGF23). Imaging revealed a small osteolytic, somatostatin receptor (SSTR) positive lesion containing calcifications in the alveolar process of the maxilla. No other SSTR-positive focus was found.
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