The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families

Marsh, Debbie J.; McDowall, D.; Hyland, Valentine J.; Andrew, Scott D.; Schnitzler, Margaret; Gaskin, Elizabeth; Nevell, David; Diamond, Terrence; Delbridge, Leigh; Clifton‐Bligh, P.; Robinson, Bruce G.

doi:10.1046/j.1365-2265.1996.505292.x

Cited by 79 publications

(50 citation statements)

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“…This view is supported by the fact that the pentagastrin test has been shown to be positive in cases of benign C-cell hyperplasia (30,31). Furthermore, pentagastrin injection has been shown to cause a slight yet significant increase in calcitonin serum levels in normal subjects (32).…”

Section: Immunohistochemistrysupporting

confidence: 57%

Expression of the cholecystokinin 2-receptor in normal human thyroid gland and medullary thyroid carcinoma

Bläker

Weerth

Tometten

et al. 2002

European Journal of Endocrinology

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Objective: The cholecystokinin 2 -receptor (CCK 2 R) promotes secretion and cell growth induced by its ligands cholecystokinin (CCK) and gastrin. The receptor has recently been shown to be expressed in human medullary thyroid carcinomas (MTCs). The objective of this study was to analyze CCK 2 R expression in MTC samples of different tumor stages as well as in non-malignant thyroid tissues. Design and Methods: Using RT-PCR we investigated 19 MTC samples and TT-cells (a human MTC cell line), as well as samples of normal thyroid. In addition, we performed immunohistochemistry using calcitonin-and CCK 2 R-specific antibodies on MTCs and samples of C-cell hyperplasia. Results: We demonstrate for the first time that CCK 2 R is expressed not only in MTCs but in all samples of normal thyroid tissue. Using immunohistochemistry the receptor could be localized on calcitoninsecreting C-cells. The highest incidence of CCK 2 R expression in MTCs was observed in early-tumor stages, whereas CCK 2 R could not be detected in advanced or metastasized tumors. Conclusions: The expression of CCK 2 R in C-cells suggests a physiological function for gastrin and/or CCK in the regulation of calcitonin release, presumably related to bone and calcium metabolism. Moreover, these ligands might act as growth factors in MTCs. Efforts in the development of CCK 2 R scintigraphy for the detection of MTC lesions might have to consider a lower incidence of the receptor in advanced tumor stages.

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Section: Immunohistochemistrysupporting

confidence: 57%

Expression of the cholecystokinin 2-receptor in normal human thyroid gland and medullary thyroid carcinoma

Bläker

Weerth

Tometten

et al. 2002

European Journal of Endocrinology

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“…This procedure can be performed on children at the age of 2-5 years, at puberty, or after a wait-and-see policy, in which the gene carrier is screened annually with provocative calcitonin testing. 11 The prognosis of the familial forms of MTC varies substantially and is generally most severe with MEN 2B and most favorable with FMTC when MTC occurs without other clinical manifestations. Among the most benign thyroid carcinomas are mutation in exon 10 codon 611, as also indicated by Oriola et al 12 The therapeutic strategy whereby the thyroid gland is removed in an early stage of tumor formation or even before the time that MTC appears clinically, intends to enhance the survival of the patients and improve the prognosis of the disease, but it is unclear whether all gene carriers should be thyroidectomized.…”

mentioning

confidence: 99%

Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?

Hansen

Tørring

Godballe

et al. 2000

Cancer

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“…The explanation for this is unclear, but is also speculatively ascribed to the altered substrate speci®city of the M918T mutation. Although the A883F mutation has been reported in sporadic MTC, it is uncommon (four of 111 analysed; Eng and Mulligan, 1997;Marsh et al, 1996). Whether this lower frequency re¯ects a di erence in the properties of the mutation, or merely the requirement for a two-base substitution, remains to be seen.…”

Section: Discussionmentioning

confidence: 97%

Germline mutation of RET codon 883 in two cases of de novo MEN 2B

1997

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Germline mutations in the RET proto-oncogene are seen in the majority of patients with the dominantly inherited cancer syndromes multiple endocrine neoplasia type 2 (MEN 2). The clinical subtypes of MEN 2 (MEN 2A, MEN 2B and familial MTC) all have medullary thyroid carcinoma, but vary in the involvement of pheochromocytoma, parathyroid adenoma/hyperplasia and developmental abnormalities. A single RET mutation, resulting in the substitution M918T, has been identi®ed in 94% of cases of MEN 2B (which consists of MTC, pheochromocytoma and developmental abnormalities). Here we report the identi®cation of a new germline RET mutation (A883F) in two de novo cases of MEN 2B. Identi®cation of this new mutation will contribute to understanding the molecular basis of MEN 2B, and will assist in the clinical management of families harbouring this mutation.

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The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families

Cited by 79 publications

References 0 publications

Expression of the cholecystokinin 2-receptor in normal human thyroid gland and medullary thyroid carcinoma

Expression of the cholecystokinin 2-receptor in normal human thyroid gland and medullary thyroid carcinoma

Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?

Germline mutation of RET codon 883 in two cases of de novo MEN 2B

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