Hereditary Localized Pruritus in Affected Members of a Kindred With Multiple Endocrine Neoplasia Type 2a (Sipple's Syndrome)

Nunziata, V.; Giannattasio, R.; Giovanni, G. Di; D'Armiento, M.; Mancini, Marcello

doi:10.1111/j.1365-2265.1989.tb03727.x

Cited by 74 publications

(27 citation statements)

References 19 publications

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“…The triad of medullary thyroid cancer (MTC), pheochromocytoma, and hyperparathyroidism is known as MEN-2A, which is the most common subtype of MEN-2 (90% of MEN-2 cases). Two variants of MEN-2A have been observed: one in association with Hirschsprung's disease and the other variant in association with cutaneous lichen amyloidosis [3,4]. MEN-2B is a less common subtype of MEN-2 (10% of MEN-2 cases), in which MTC, pheochromocytoma, and mucosal neuromas occur without hyperparathyroidism.…”

Section: Opinion Statementmentioning

confidence: 96%

Multiple endocrine neoplasia type 2

Gertner¹,

Kebebew

2004

Curr. Treat. Options in Oncol.

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Multiple endocrine neoplasia type 2 (MEN-2) is a hereditary syndrome that is transmitted in an autosomal dominant pattern. MEN-2A, MEN-2B, and familial medullary thyroid cancer (MTC) comprise the MEN-2 syndrome. A germline mutation in the RET proto-oncogene is responsible for the MEN-2 syndrome. Recent data indicate that in 99% of MEN-2 cases, a germline RET mutation can be identified by genetic testing. The phenotypic variation of MEN-2 is diverse and partly related to the codon and specific point mutation in the RET proto-oncogene. There are increasing data on the genotype-phenotype correlations in patients with MEN-2 and this information should be used for screening at-risk patients and treatment of RET mutation carriers. All patients (especially if young) with MTC or bilateral pheochromocytoma should have a careful family history taken and genetic screening for RET germline mutations. Patients who are RET germline mutation carriers but without clinical or biochemical evidence of MTC should have a prophylactic total thyroidectomy. The optimal age of thyroidectomy should be based on the RET genotype (eg, high-risk mutations within the first year of life, intermediate-risk mutations by 5 years of age, and low-risk mutations by 10 years of age). Patients who are diagnosed with clinical or biochemical evidence of MTC should have a total or a near total thyroidectomy and at least a central neck lymph node dissection. Patients who have pheochromocytoma and a unilateral adrenal tumor on a localizing study should have a unilateral laparoscopic adrenalectomy after preoperative alpha-blockade. However, patients with bilateral adrenal tumors on localizing studies should have bilateral laparoscopic adrenalectomy. A cortical-sparing (subtotal) adrenalectomy may be considered, if technically feasible, to avoid long-term steroid dependence and to reduce the risk of Addisonian crisis. Patients with biochemical evidence of primary hyperparathyroidism should have a bilateral neck exploration and total parathyroidectomy and autotransplantation (30-60 mg of the most normal parathyroid tissue) to the nondominant forearm if asymmetric parathyroid hyperplasia is present. Rarely, patients may have only single-gland disease and excision may be performed if the other parathyroid glands are not found with biopsy to be hyperplastic. All unresected parathyroid glands should be marked with a clip because patients with MEN-2A have a high risk of persistent and recurrent primary hyperparathyroidism. Patients with familial MTC may have not manifested the other features of MEN-2A, thus these patients should have continued follow-up for pheochromocytoma and primary hyperparathyroidism.

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Section: Opinion Statementmentioning

confidence: 96%

Multiple endocrine neoplasia type 2

Gertner¹,

Kebebew

2004

Curr. Treat. Options in Oncol.

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“…These two MEN 2 variants have the greatest syndromic consistency (Brandi et al 2001). Other clinical variants have also been described (Table 1; Verdy et al 1982, Farndon et al 1986, Donovan et al 1989, Nunziata et al 1989. As a result of the high penetrance of the MEN 2 phenotype, tumors may present at an earlier age, even under the age of 5 years (Machens et al 2001).…”

Section: Men2 Syndromesmentioning

confidence: 99%

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

Sakorafas¹,

Friess²,

Peros³

2008

Endocrine Related Cancer

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Medullary thyroid cancer (MTC) may occur either sporadically or on a hereditary basis. Hereditary MTC may be observed with either multiple endocrine neoplasia syndromes (MEN 2A and MEN 2B) or as familial MTC (FMTC). Despite the rarity of these syndromes, early diagnosis is especially important, since MTC is a lethal disease if not promptly and appropriately treated. Recently, the development of genetic testing and direct DNA analysis allows the identification of asymptomatic patients. Surgical prophylaxis should be considered in these cases, ideally to prevent the development of MTC. During the recent decade, the concept of 'codon-directed' timing of prophylactic surgery emerged as a reasonable strategy in the management of these patients. Currently, genetic analysis offers the possibility to define genotype-phenotype correlations and to adjust the time of prophylactic surgery. Hereditary MTC is a model of genetically determined cancer in which both diagnostic and therapeutic strategies rely on the identification of specific mutations.Endocrine-Related Cancer (2008) 15 871-884

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“…MEN2A accounts for over 75% of MEN2 (72,73). Several rare variants of MEN2 include familial MTC (FMTC) (80), MEN2A with cutaneous lichen amyloidosis (81,82), and MEN2A or FMTC with Hirschsprung's disease (83) ( Table 4). MTC is the first neoplastic manifestation in most MEN2 kindreds because of its earlier and overall higher penetrance.…”

Section: Men2 Syndromementioning

confidence: 99%