Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease†
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Cited by (105)
Systemic treatment and management approaches for medullary thyroid cancer
2016, Cancer Treatment ReviewsCitation Excerpt :The frequency of pheochromocytoma varies depending on the specific RET codon mutation, ranging from 0% for codon 611, 4% for codon 609, 9% for codon 620, 22% for codon 618, and 50% for codon 634 [44]. A codon 634 mutation is almost always associated with cutaneous lichen amyloidosis in MEN 2A, whereas Hirschsprung disease is observed in association with MEN 2A patients harboring mutations in the cysteine codons in exon 10, including codon 609 (15%), 611 (5%), 618 (30%), and 620 (>50%) [45,46]. The majority of patients with MEN 2B harbor the M918T mutation in exon 16 and less commonly the A883F mutation in exon 15.
Clinical Presentation and Diagnosis of Neuroendocrine Tumors
2016, Hematology/Oncology Clinics of North AmericaCitation Excerpt :MEN type 2 is subclassified into 3 groups: MEN2A: Medullary thyroid carcinoma (MTC) associated with PHEO and hyperparathyroidism; some may present in childhood with features of Hirschsprung disease and others with cutaneous lichen amyloidosis.103,104 MEN2B: MTC associated with mucosal neuromas, PHEO, marfanoid body habitus, GI ganglioneuromatosis, and myelinated corneal nerves.
The development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes
2015, Experimental and Molecular PathologyCitation Excerpt :The criterion for the positive FMTC diagnosis is when four or more family members across a wide range of ages have isolated MTC (Eng et al., 1996; Frank-Raue and Raue, 2009; Kouvaraki et al., 2005; Krampitz and Norton, 2014; Wells et al., 2013). Various genetic studies of MEN2 patients revealed hotspot mutations in the RET gene (Bergant et al., 2006; Borst et al., 1995; Cranston et al., 2006; Eng et al., 1996; Menko et al., 2002; Miyauchi et al., 1999; Mulligan et al., 1993, 1994; Quayle et al., 2007; Rothberg et al., 2009). 95% of all patients with MEN2A, harbor a RET mutation at codons 609, 611, 618 and 620 in exon 10 or at codon 634 in exon 11 (Brandi et al., 2001; Kaserer et al., 2002; Mulligan and Ponder, 1995).
Multiple Endocrine Neoplasia
2015, Williams Textbook of EndocrinologyMultiple Endocrine Neoplasia
2011, Williams Textbook of Endocrinology, Twelfth Edition
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Supported by grants from the National Institutes of Health (1K08DK02176-02), American Cancer Society (VM-73), and the John and Suzanne Munn Endowed Research Fund of the University of Michigan Comprehensive Cancer Center (R.A.D.)
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Recipient of the American College of Surgeons Faculty Fellowship Award.