Familial thyroid neoplasia: impact of technological advances on detection and monitoring.
Summary of "Familial thyroid neoplasia: impact of technological advances on detection and monitoring."
PURPOSE OF
REVIEW:
To weigh the clinical impact of new technological insights into heritable thyroid malignancies. RECENT
FINDINGS:
Medullary thyroid carcinoma and familial nonmedullary thyroid cancers represent the small minority of thyroid cancers that are inherited. New insights into the genetic alterations and molecular mechanisms implicated in these tumors are serving to refine the clinical tools available for their initial diagnosis as well as subsequent follow-up. In addition to an analysis of rearranged during transfection mutations and calcitonin profiles in medullary thyroid carcinoma, this review includes emphasis on familial nonmedullary thyroid cancer syndromes, including genetic findings in familial papillary thyroid cancer, familial adenomatous polyposis, Cowden syndrome, Carney complex, and Werner syndrome.
SUMMARY:
Genetic mutational information is increasingly available on medullary and familial nonmedullary thyroid cancer and their associated syndromes. The clinical significance of this information for affected patients and their families continues to undergo evaluation.
Affiliation
aDivision of Endocrinology and Metabolism, Harbor-UCLA Medical Center, Torrance, USA bDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Journal Details
This article was published in the following journal.
Name: Current opinion in endocrinology, diabetes, and obesity
ISSN: 1752-2978
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20729730
- DOI: http://dx.doi.org/10.1097/MED.0b013e32833dd19f
Medical and Biotech [MESH] Definitions
Multiple Endocrine Neoplasia Type 2a
A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.
Fetal Monitoring
Physiologic or biochemical monitoring of the fetus. It is usually done during LABOR, OBSTETRIC and may be performed in conjunction with the monitoring of uterine activity. It may also be performed prenatally as when the mother is undergoing surgery.
Immunoglobulins, Thyroid-stimulating
Autoantibodies that bind to the thyroid-stimulating hormone (TSH) receptor (RECEPTORS, THYROTROPIN) on thyroid epithelial cells. The autoantibodies mimic TSH causing an unregulated production of thyroid hormones characteristic of GRAVES DISEASE.
Substance Abuse Detection
Detection of drugs that have been abused, overused, or misused, including legal and illegal drugs. Urine screening is the usual method of detection.
Lingual Thyroid
A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM.
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