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Pheochromocytoma (PHEO) currently is considered to be malignant due to metastatic potential. One of the most common familial forms of PHEO is multiple endocrine neoplasia syndrome (MEN) type 2. The penetrance of PHEO in MEN2 syndrome is up to 50% of cases.
View Article and Find Full Text PDFMaternal and Fetal Complications in Pregnant Women with Neurofibromatosis Type 1: Literature Review and Two Case Reports.
J Clin Med
January 2025
"Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.
View Article and Find Full Text PDFMultiplexed Dilute-and-Shoot Liquid Chromatography-Multiple-Reaction Monitoring Mass Spectrometry Clinical Assay for Metanephrines and Catecholamines in Human Urine.
Metabolites
January 2025
Segal Cancer Proteomics Centre, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC H3T 1E2, Canada.
Quantifying urinary catecholamines and metanephrines is essential for the clinical screening and diagnosis of neuroendocrine tumours. HPLC with electrochemical detection (HPLC-ECD) is commonly used for this type of analysis but requires extensive sample cleanup. Simple and rapid dilute-and-shoot LC-multiple-reaction monitoring (MRM)-MS assays have been developed for quantitating these analytes in urine but have not yet been validated according to the Clinical and Laboratory Standards Institute (CLSI) guidelines.
View Article and Find Full Text PDFSWEET'S SYNDROME ASSOCIATED WITH PHEOCHROMOCYTOMA: A RARE CASE REPORT AND REVIEW OF LITERATURE.
Acta Endocrinol (Buchar)
January 2025
Municipal Clinical Hospital - Urology, Cluj-Napoca.
Background: Sweet's syndrome (SS) or acute febrile neutrophilic dermatosis is a dermatological illness that can be described by tender erythematous plaques or nodules and acute onset fever. The etiology is multifactorial and is not fully understood. SS is separated in three subclasses: classical, malignancy-associated, and drug-induced.
View Article and Find Full Text PDFMedullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients.
Front Oncol
January 2025
Endocrinology Unit, Garibaldi-Nesima Hospital, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Background: Multiple endocrine neoplasia type 2 syndrome (MEN2) is a hereditary disease resulting from mutations of the rearranged during transfection (RET) protooncogene subclassified into MEN2A [medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism] and MEN2B (MTC, pheochromocytoma, Marfanoid habitus, mucous neuromas, and intestinal ganglioneuromatosis). Prophylactic thyroidectomy is recommended in RET-mutated patients. The age at which it should be performed depends on the type and aggressiveness of the mutation.
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