Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A

Gagel, Robert F.; Cote, Gilbert J.; Bugalho, Maria João; Boyd, A. E.; Cummings, Timothy S.; Goepfert, Helmuth; Evans, Douglas B.; Cangır, Ayten; Khorana, Sangeeta; Schultz, Pamela N.

doi:10.1111/j.1365-2796.1995.tb01207.x

Cited by 71 publications

(40 citation statements)

References 15 publications

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“…Recently, RET proto-oncogene germline mutations have been identified in all forms of hereditary MTC. 14,15 It is not currently known whether the identified RET point mutations are sufficient for the development of frank MTC.…”

Section: Calcitoninmentioning

confidence: 99%

Medullary Carcinoma of the Thyroid

Randolph

Maniar

2000

Cancer Control

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Medullary thyroid cancer (MTC) is a distinct C-cell tumor of the thyroid. We review the oncogenesis and management of both sporadic tumors and those tumors arising as part of specific inherited syndromes. The RET proto-oncogene plays a role in the development of inherited forms of MTC and has become important in the clinical management of patients and their families. The recognition of the high rate of regional nodal involvement has led to lymphadenectomy being strongly considered for patients undergoing thyroidectomy for MTC.Because of the multifocal nature of inherited disease, total thyroidectomy is the minimum surgical recommendation for all forms of medullary thyroid cancer.

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Section: Calcitoninmentioning

confidence: 99%

Medullary Carcinoma of the Thyroid

Randolph

Maniar

2000

Cancer Control

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“…These are: (1) familial MTC (isolated MTC); (2) MEN2A (MTC, phaeochromocytoma and hyperparathyroidism), and (3) MEN2B (MTC, phaeochromocytoma, ganglioneuromatosis and a Marfanoid habitus). The penetrance is variable depending on the syndrome, with MEN2B being the most penetrant and commonly presenting in childhood [8].…”

Section: Men2mentioning

confidence: 99%

Investigating Familial Endocrine Neoplasia Syndromes in Children

Johnston¹,

Chew²,

Lowe³

et al. 2001

Horm Res Paediatr

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Familial endocrine neoplasia syndromes multiple endocrine neoplasia (MEN) type 1, MEN type 2 and von Hippel Lindau (VHL) can now be diagnosed genetically in childhood. Paediatric endocrinologists must therefore be prepared to investigate and manage these children. This paper provides an overview of the major features of these syndromes and suggests protocols for regular screening of children known to be at risk of developing these disorders.

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“…Probably, different variations somewhere in the ret gene or in flanking genes could account for the different phenotypes (MEN 2A versus FMTC) in families with the same mutations (Goodfellow & Wells 1995). In each familial MEN 2A case the ret gene mutations in affected patients have been described in exon 10, in one of four cysteine codons (609, 611, 618 and 620) and exon 11, at the cysteine codon 634, at the boundary of the extracellular and transmembrane domains harboring a cysteine rich region (Table 1) (Marsh et al 1994, Schuffenecker et al 1994, Xue et al 1994, Zedenius et al 1994, Gagel et al 1995, Komminoth et al 1995, Landsvater et al 1996, Mulligan et al 1995. Two newer mutations in exons 13, codon 768, and 14, codon 804, have been described in families with FMTC (Eng et al 1995a, Bolino et al 1995.…”

Section: Menmentioning

confidence: 99%