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doi: 10.1097/GIM.0b013e318216cc6dpmid: 21552134
Multiple endocrine neoplasia type 2 is historically composed of three clinical subtypes, all of which are associated with germline mutations in the RET proto-oncogene. Multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and multiple endocrine neoplasia type 2B are collectively associated with a 70–100% risk of medullary thyroid carcinoma by age 70 years. Pheochromocytomas are identified in 50% of individuals with multiple endocrine neoplasia type 2A and multiple endocrine neoplasia type 2B. Furthermore, those with multiple endocrine neoplasia type 2A have a 20–30% risk for primary hyperparathyroidism. Individuals with multiple endocrine neoplasia type 2B often have distinct physical features including mucosal neuromas of the lips and tongue, medullated corneal nerve fibers, ganglioneuromatosis of the gastrointestinal tract, distinctive facies with enlarged lips, and a “Marfanoid” body habitus. Clinical recognition and accurate diagnosis of individuals and families who are at risk of harboring a germline RET mutation is critical for the prevention and management of potentially life-threatening neoplasms. This overview summarizes the clinical description of multiple endocrine neoplasia type 2, diagnosis and testing strategies, management and surveillance, and differential diagnosis for other related syndromes.
Brothman, Arthur R; Dolan, Michelle M; Goodman, Barbara K; Park, Jonathan P; Persons, Diane L; Saxe, Debra F; Tepperberg, James H; Tsuchiya, Karen D; Van Dyke, Daniel L; Wilson, Kathleen S; Wolff, Daynna J; Theil, Karl S
Coulter, Michael E; Miller, David T; Harris, David J; Hawley, Pamela; Picker, Jonathan; Roberts, Amy E; Sobeih, Magdi M; Irons, Mira
doi: 10.1097/GIM.0b013e31821dd54apmid: 21716121
Purpose: Chromosomal microarray (CMA) testing provides the highest diagnostic yield for clinical testing of patients with developmental delay (DD), intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). Despite improved diagnostic yield and studies to support cost-effectiveness, concerns regarding the cost and reimbursement for CMA have been raised because it is perceived that CMA results do not influence medical management.
Kaminsky, Erin B; Kaul, Vineith; Paschall, Justin; Church, Deanna M; Bunke, Brian; Kunig, Dawn; Moreno-De-Luca, Daniel; Moreno-De-Luca, Andres; Mulle, Jennifer G; Warren, Stephen T; Richard, Gabriele; Compton, John G; Fuller, Amy E; Gliem, Troy J;
Sussner, Katarina M; Jandorf, Lina; Valdimarsdottir, Heiddis B
doi: 10.1097/GIM.0b013e31821afc8epmid: 21555944
Purpose: This study investigated the educational needs of frontline healthcare clinicians about cancer family history and genetic counseling for cancer risk.
Chen, Xiulian; Thorburn, David R; Wong, Lee-Jun; Vladutiu, Georgirene D; Haas, Richard H; Le, Thuy; Hoppel, Charles; Sedensky, Margaret; Morgan, Philip; Hahn, Si Houn
doi: 10.1097/GIM.0b013e31821afca5pmid: 21633293
Vos, Joël; Stiggelbout, Anne M; Oosterwijk, Jan; Gomez-Garcia, Encarna; Menko, Fred; Collee, J Margriet; van Asperen, Christi J; Tibben, Aad
doi: 10.1097/GIM.0b013e31821a36f9pmid: 21885922
Purpose: Genetic counseling may help counselees understand their genetic risk of developing breast/ovarian cancer. However, many studies have shown that their perception of their risks is inaccurate. Information-oriented variables often predicted the level of accuracy, focusing on specific processes of receiving and processing risks. We examined counselee-oriented predictors about how counselees embed cancer risks in their lives. These predictors reflect the personal meaning of genetic risks and are expected to explain/mediate the impact of genetic counseling on risk-perception-accuracy.
Bernhardt, Barbara A; Zayac, Cara; Pyeritz, Reed E
doi: 10.1097/GIM.0b013e31821d2e6dpmid: 21637104
Purpose: Appropriate management of autosomal dominant disorders reduces morbidity and mortality but relies on identifying which family members are affected. Genetic testing may identify relatives needing follow-up but is underused. We conducted this study to identify barriers to genetic testing for one disorder, hereditary hemorrhagic telangiectasia.
Simon, Christian M; L'Heureux, Jamie; Murray, Jeffrey C; Winokur, Patricia; Weiner, George; Newbury, Elizabeth; Shinkunas, Laura; Zimmerman, Bridget
doi: 10.1097/GIM.0b013e31821d2f88pmid: 21555942
Purpose: Despite important recent work, US public attitudes toward specific biobank consent models are not well understood. Public opinion data can help shape efforts to develop ethically sound and publicly trusted mechanisms for informing and consenting prospective biobank donors. The purpose of this study was to explore public perspectives toward a range of consent models currently being used or considered for use among comprehensive US biobanks.
Showing 1 to 10 of 16 Articles
doi: 10.1097/GIM.0b013e31821d3165pmid: 21633292
Purpose: To evaluate the feasibility of administering a newly established proficiency test offered through the College of American Pathologists and the American College of Medical Genetics for genomic copy number assessment by microarray analysis, and to determine the reproducibility and concordance among laboratory results from this test.
doi: 10.1097/GIM.0b013e31822c79f9pmid: 21844811
Purpose: Copy number variants have emerged as a major cause of human disease such as autism and intellectual disabilities. Because copy number variants are common in normal individuals, determining the functional and clinical significance of rare copy number variants in patients remains challenging. The adoption of whole-genome chromosomal microarray analysis as a first-tier diagnostic test for individuals with unexplained developmental disabilities provides a unique opportunity to obtain large copy number variant datasets generated through routine patient care.
Purpose: The diagnosis of a mitochondrial disorder relies heavily on the enzymatic analysis of mitochondrial respiratory chain complexes in muscle or other tissues. However, considerable differences exist between clinical laboratories in the protocols or particular tests used for evaluation. In addition, laboratories can encounter difficulties in consistent technique, as well as procurement of adequate positive or negative controls. Currently, there is no external quality assurance for respiratory chain complex assays. In this study, we explored the use of Caenorhabditis elegans mitochondria as a potential aid to diagnostic centers that perform respiratory chain complex assays.