Screening for medullary thyroid cancer (MTC) in France is based on a protocol that has been widely distributed nationally. A network of coordinators utilizing a common questionnaire provides for an effective national screening program. Calcitonin stimulation procedures are systematically used for all first-degree relatives of MTC patients. Pathological studies utilize special immunopathologic techniques. Genealogic information is obtained on all index cases, and blood specimens are collected for establishing permanent cell lines. The data collected are used not only to establish the diagnosis of the hereditary or sporadic form of the disease but also to expand the screening as appropriate. This common protocol has benefited patients and their families by improving early detection of cases, increasing the number of families available for follow-up, and improving the prognosis of this cancer. Studies on these families have contributed significantly to the localization of the multiple endocrine neoplasia type 2 gene.
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Ann Endocrinol (Paris)
January 2025
CHU Angers, Service d'Endocrinologie-Diabétologie-Nutrition, Angers, 49100, France. Electronic address:
Background: RET variants affecting codon 804 are part of the low-to-moderate risk group in the ATA classification, with indications for prophylactic thyroidectomy beyond age of 5 years. However, aggressiveness seems to be variable. The objective of this study was to report a large cohort of French carriers of a pathogenic variant at codon 804 in the RET proto-oncogene.
View Article and Find Full Text PDFFront 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.
View Article and Find Full Text PDFQuant Imaging Med Surg
January 2025
Department of Ultrasound, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Background: Traditional 2-dimensional (2D) ultrasound is a noninvasive method in the assessment of glomerular disease. Ultrasound elastography shows promise in evaluating renal fibrosis, which plays a key role in glomerular disease progression. However, research in pediatric cohorts is limited.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Ultrasound, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, China.
Background: Lymphatic metastasis commonly occurs in patients with papillary thyroid carcinoma and medullary thyroid carcinoma. The clinical and imaging characteristics of recurrent laryngeal nerve (RLN) invasion by extranodal extension (ENE) of metastatic lymph nodes remain understudied. This study aimed to evaluate these characteristics in patients with thyroid carcinoma.
View Article and Find Full Text PDFJ Clin Densitom
January 2025
University of New Mexico Health Sciences Center Albuquerque, NM, USA. Electronic address:
A 54-year-old woman was referred by her rheumatologist for evaluation of an elevated serum alkaline phosphatase (ALP) in the setting of polyarthritis. The metabolic work-up was significant for an elevated bone fraction of alkaline phosphatase isoenzymes, and high bone turnover markers, including fasting C- telopeptide (CTX). A diagnosis of Paget's disease of bone (PDB) was considered.
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