Seventeen-year-long follow-up of a family affected by type 2A Multiple Endocrine Neoplasia (MEN 2A)

Libroia, A.; Verga, Uberta; Vecchi, Giancarlo Li; Banfi, Francesco; Zurleni, F.; Quadro, Loredana; Scurini, C.; Fattoruso, Olimpia; Colantuoni, Vittorio

doi:10.1007/bf03350320

Cited by 7 publications

(2 citation statements)

References 13 publications

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“…The suspicion of pheochromocytoma pointed to the diagnosis of MEN 2A and therefore more severe screening program for the gene carrier subjects was considered necessary. Instead, no further screening was necessary for the family members with- out the RET mutation who are at no risk of developing the same disease [12,14,15].…”

Section: Discussionmentioning

confidence: 99%

A Large Family with Hereditary MTC: Role of RET Genetic Analysis in Differential Diagnosis Between MEN 2A and FMTC

Chiefari¹,

Chiarella²,

Crocetti

et al. 2001

Horm Metab Res

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Germline mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN 2A), multiple endocrine neoplasia type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC). In the absence of biochemical and/or clinical evidence of pheochromocytoma and hyperparathyroidism, patients with MEN 2A disease display the same phenotype of FMTC disease, although prognosis and clinical management in both affected and unaffected familial members are quite different. We studied a family with hereditary MTC, whose proband was referred to us because of enlarged cervical nodes and increased calcitonin serum levels 28 years after the total thyroidectomy for MTC. Cervical node dissection was carried out and subsequently the presence of MTC metastasis was histologically confirmed. A RET genomic mutation at codon 634 (TGC-->TTC) was identified in the proband and in seven out of 19 familial members studied. Accordingly, a hereditary disease was suggested. However, the strong association of RET mutation at codon 634 with the presence of pheochromocytoma in MEN 2 disease suggested a more rigorous management in all gene carriers. Indeed, during the follow-up pheochromocytoma was subsequently identified in the proband. This finding suggests that all families with a pedigree suggestive of FMTC should be regarded at risk from MEN 2A disease, at least when a critical mutation in the RET cysteine domain is detected.

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Section: Discussionmentioning

confidence: 99%

A Large Family with Hereditary MTC: Role of RET Genetic Analysis in Differential Diagnosis Between MEN 2A and FMTC

Chiefari¹,

Chiarella²,

Crocetti

et al. 2001

Horm Metab Res

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“…For RET oncogene‐positive patients who have an elevated basal CT or who are older than 6 years, a total thyroidectomy combined with central neck dissection is recommended. This also is true for patients who have tumors with or without palpable lymphadenopathy 44–51…”

Section: Genetic Counseling and Dna Testingmentioning

confidence: 99%

Current approaches and perspectives in the therapy of medullary thyroid carcinoma

Vitale

Caraglia

Ciccarelli

et al. 2001

Cancer

112

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Multiple endocrine neoplasia type 2a (MEN2a): a call for psycho‐social research

Giarelli

2002

Psycho-Oncology

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This paper summarizes what is known about the diagnosis, treatment, and follow-care of people with the inherited disorder multiple endocrine neoplasia type 2a (MEN2a). Several databases were searched throughout the year 2000, including MEDLINE, CINAHL, CancerLit, PsychINFO, and Dissertation Abstracts International. MEN2a is a complex disease involving cancer care and control by surgery, health maintenance, and life-long observation of gene mutation carriers. Genetic testing is the standard of care, prophylactic surgery is recommended during directive counseling, and life-long surveillance is encouraged for people with MEN2a. A substantial body of scientific literature describes morbidity and mortality outcomes of disease treatment, and the monitoring of multiple organ systems. Research is scant concerning the psychological consequences and social impact of the MEN2a diagnosis, treatment, and follow-up. Nearly all that is known from a psycho-social perspective comes from data in The Netherlands. Little is known of the psychological responses to and social consequences of genetic predisposition testing, prophylactic and curative surgery, and life-long surveillance. Psycho-social research is essential to provide comprehensive care for patients and family members with this disorder and it is necessary to guide the development of risk management strategies for patients with this inherited cancer syndrome. Since MEN2a has been labeled a prototype for medical genetics, information on MEN2a patient experiences may be relevant to the care of individuals with other inherited cancer syndromes.

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Seventeen-year-long follow-up of a family affected by type 2A Multiple Endocrine Neoplasia (MEN 2A)

Cited by 7 publications

References 13 publications

A Large Family with Hereditary MTC: Role of RET Genetic Analysis in Differential Diagnosis Between MEN 2A and FMTC

A Large Family with Hereditary MTC: Role of RET Genetic Analysis in Differential Diagnosis Between MEN 2A and FMTC

Current approaches and perspectives in the therapy of medullary thyroid carcinoma

Multiple endocrine neoplasia type 2a (MEN2a): a call for psycho‐social research

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