Investigating Familial Endocrine Neoplasia Syndromes in Children

Johnston, Linda; Chew, Shern L.; Lowe, Dhruv; Reznek, RH; Monson, JP; Savage, M O

doi:10.1159/000063460

Cited by 26 publications

(12 citation statements)

References 23 publications

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“…Pancreatic insulinoma has been described in a 7-year-old boy (24), followed by primary hyperparathyroidism at the age of 8 years (3). Our index patient showed an insulinoma when he was 8 years old, reinforcing the proposition that a clinical screening program for children carrying MEN1 gene mutations should start at the age of 10-15 years (21,22,25,26). These children should be evaluated with annual blood tests by measuring serum calcium, pancreatic polypeptide and gastrin, prolactin and insulin-like growth factor-1.…”

Section: Discussionsupporting

confidence: 64%

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Fabbri

Mello

Soardi

et al. 2010

Arq Bras Endocrinol Metab

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling.

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Section: Discussionsupporting

confidence: 64%

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Fabbri

Mello

Soardi

et al. 2010

Arq Bras Endocrinol Metab

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“…The role of menin has not yet been fully elucidated; it is a nuclear protein which interacts with the AP1 transcription factor JunD [9] and other factors related to transcriptional regulation and cell cycle control as well as Smad3 [10]. Recommendations for MEN1 mutation testing are being developed in order to manage the diagnosis of this syndrome [11] in the hope that early disease recognition can prevent certain types of morbidity [12]. Mutation detection by sequencing is time-consuming, because mutations are spread right across the gene.…”

Section: Introductionmentioning

confidence: 99%

Efficient mutation detection in MEN1 gene using a combination of single‐strand conformation polymorphism (MDGA™) and heteroduplex analysis

Crépin¹,

Escande²,

Pigny³

et al. 2003

Electrophoresis

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For facilitated genotypic analysis of multiple endocrine neoplasia type 1 (MEN1), a familial syndrome associated with tumors of the parathyroid and neuroendocrine tissues, we developed two screening methods, heteroduplex mutation assay (HMA) and mutation detection gel analysis (MDGA), both based on electrophoretic discrimination of polymerase chain reaction (PCR) products, to detect the mutations. Forty-three genomic DNA samples were used for the evaluation of these techniques. The whole coding region of MEN1 was PCR-amplified with fluorescent primers and then denatured/renatured before electrophoresis on an automated sequencer. 100% of the mutations were detected, subsequently confirmed and identified by sequencing. "Negative" samples were used to evaluate the specificity and reproducibility of the two techniques. The combination of the two methods allows high throughput cost-effective mutation screening which is less laborious than systematic sequencing of the whole coding region of MEN1. Together, these methods provide an efficient screen for MEN1 mutations.

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“…A pancreatic insulinoma has been described in a 7-year-old boy (23), and primary hyperparathyroidism from the age of 8 years (24). Johnston et al (25,26) suggested a screening programme for children carrying MEN1 gene mutations, to start at the age of 10 -15 years. These children should be screened with annual blood tests measuring serum calcium, pancreatic polypeptide and gastrin, prolactin and insulin-like growth factor-1.…”

Section: Discussionmentioning

confidence: 99%

Cushing's disease in childhood as the first manifestationof multiple endocrine neoplasia syndrome type 1

Rix

Hertel

et al. 2004

European Journal of Endocrinology

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Objective: To describe three cases of Cushing's disease in children with multiple endocrine neoplasia type 1 (MEN1), as clinical manifestations of MEN1 are very rare in childhood. Design and methods: A retrospective review of three cases of Cushing's disease diagnosed between 1997 and 1999. Genetic screening for MEN1 gene mutation was performed in each patient. Results: An ACTH-secreting microadenoma was diagnosed in three children, aged 11 -13 years, presenting with growth retardation and weight gain over a period of 3-4 years. All patients had successful transsphenoidal adenomectomies. Primary hyperparathyroidism was subsequently diagnosed in two of the patients, and in the monozygotic twin of one of the patients. A new mutation in the MEN1 gene (Tyr351His) was identified in two of the patients and the affected members of their families. In the third patient a de novo MEN1 gene mutation (Leu444Pro) was found. Conclusions: MEN1 has to be considered in all children with tumours of the pituitary gland, and in those presenting with primary hyperparathyroidism. The children and their families should be advised to seek genetic counselling. We suggest that careful growth records be kept for children at risk of developing inherited MEN1 and, in the event of a decelerating growth rate, further diagnostic evaluation be undertaken with regards to ACTH-secreting pituitary tumours.European Journal of Endocrinology 151 709-715

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Investigating Familial Endocrine Neoplasia Syndromes in Children

Cited by 26 publications

References 23 publications

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Efficient mutation detection in MEN1 gene using a combination of single‐strand conformation polymorphism (MDGA™) and heteroduplex analysis

Cushing's disease in childhood as the first manifestationof multiple endocrine neoplasia syndrome type 1

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