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MEN 2BMultiple Endocrine Neoplasia Syndrome Type 2B
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Diffuse ganglioneuromatosis of the GI tract is associated with other tumors and syndromes, including PTEN hamartoma syndrome, MEN 2b, NF1 (von Recklinghausen's disease), and neurogenic sarcoma [16].
These four patients were carriers of RET mutations (two cases with familial MTC not associated with MEN, one case with MEN 2A, and one case with MEN 2B).
Multiple neoplasia syndrome, type 2B (MEN 2B) is one of a group of rare genetic conditions characterized by tumors of the pancreas, adrenal glands, parathyroid/thyroid glands and the pituitary gland.
Since its identification in 1993 and 1994 as the (or, at least, a) major gene responsible for multiple endocrine neoplasia types 2A and 2B (MEN 2A, MEN 2B) and Hirschsprung disease (HSCR), respectively, the RET receptor tyrosine kinase (1) has provided a real-time case study of some of the more vexing aspects of both the detection and interpretation of mutations [2-7].