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Our 2006 Clinical Chemistry report demonstrated that mutation scanning of RET (ret protooncogene) detects mutations causative of multiple endocrine neoplasia type 2 (3).
Biochemical evaluation should include a 24-hour urine collection for norepinephrine, epinephrine, metanephrines, normetanephrines, dopamine, and VMA, or plasma metanephrines and normetanephrines, which is expensive, but more sensitive, especially in patients who may harbor occult diagnoses of familial syndromes, such as multiple endocrine neoplasia Type 2, Von Hippel Lindau or familial paragangliomas.
A report of a granular cell pituicytoma associated with multiple endocrine neoplasia type 2 is in the literature; however, this tumor is an example of a granular cell tumor or granular cell myoblastoma.
RET oligonucleotide microarray for the detection of RET mutations in multiple endocrine neoplasia type 2 syndromes.
Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: Presence of C-cell malignant disease in asymptomatic carriers.
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant cancer syndrome that can be divided into three clinical subtypes: MEN2A, MEN2B, and familial medullary thyroid carcinoma (MTC).
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10811.
Presymptomatic DNA screening in families with multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma.