The Natural History of Multiple Endocrine Neoplasia Type 1

Shepherd, J. J.

doi:10.1001/archsurg.1991.01410320017001

Cited by 158 publications

(155 citation statements)

References 9 publications

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“…Reported age at diagnosis of MEN1-related pulmonary carcinoids is mid-forties (Sachithanandan et al 2005). Although initially a female predominance was reported (Duh et al 1987, Farhangi et al 1987, Shepherd 1991, Sachithanandan et al 2005, the prevalence appears to be equal between genders in a large recent study (Goudet et al 2011).…”

Section: Epidemiologymentioning

confidence: 97%

“…In a total of only 33 cases reported in literature, information on metastases is available, with 24% lymph node metastases and 12% distant metastases (Underdahl et al 1953, Williams & Celestin 1962, Dry et al 1975, Farhangi et al 1987, Shepherd 1991, Murat et al 1997, Sachithanandan et al 2005, Snabboon et al 2005, Lourenco-Jr et al 2007, Abe et al 2008, Divisi et al 2008, Waldmann et al 2009, Fabbri et al 2010, Matsuda et al 2010, Montero et al 2010.…”

Section: Natural History and Prognostic Factors: Pulmonary Carcinoidsmentioning

confidence: 99%

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Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: natural history and function of menin in tumorigenesis

Pieterman¹,

Conemans²,

Dreijerink³

et al. 2014

Endocrine-Related Cancer

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Mutations of the multiple endocrine neoplasia type 1 (MEN1) gene lead to loss of function of its protein product menin. In keeping with its tumor suppressor function in endocrine tissues, the majority of the MEN1-related neuroendocrine tumors (NETs) show loss of heterozygosity (LOH) on chromosome 11q13. In sporadic NETs, MEN1 mutations and LOH are also reported, indicating common pathways in tumor development. Prevalence of thymic NETs (thNETs) and pulmonary carcinoids in MEN1 patients is 2-8%. Pulmonary carcinoids may be underreported and research on natural history is limited, but disease-related mortality is low. thNETs have a high mortality rate. Duodenopancreatic NETs (dpNETs) are multiple, almost universally found at pathology, and associated with precursor lesions. Gastrinomas are usually located in the duodenal submucosa while other dpNETs are predominantly pancreatic. dpNETs are an important determinant of MEN1-related survival, with an estimated 10-year survival of 75%. Survival differs between subtypes and apart from tumor size there are no known prognostic factors. Natural history of nonfunctioning pancreatic NETs needs to be redefined because of increased detection of small tumors. MEN1-related gastrinomas seem to behave similar to their sporadic counterparts, while insulinomas seem to be more aggressive. Investigations into the molecular functions of menin have led to new insights into MEN1-related tumorigenesis. Menin is involved in gene transcription, both as an activator and repressor. It is part of chromatin-modifying protein complexes, indicating involvement of epigenetic pathways in MEN1-related NET development. Future basic and translational research aimed at NETs in large unbiased cohorts will clarify the role of menin in NET tumorigenesis and might lead to new therapeutic options.

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Section: Epidemiologymentioning

confidence: 97%

Section: Natural History and Prognostic Factors: Pulmonary Carcinoidsmentioning

confidence: 99%

Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: natural history and function of menin in tumorigenesis

Pieterman¹,

Conemans²,

Dreijerink³

et al. 2014

Endocrine-Related Cancer

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“…The prevalence of MEN 1 has been estimated as 1/30 000-1/50 000 on the basis of autopsy and epidemiological studies (5), but it might be underestimated because of the possibility of misdiagnosis. Thus MEN 1 syndrome may be defined as an unrecognized more than an uncommon disease (6). MEN 1 tumors may either be inherited or they may occur sporadically (i.e.…”

Section: Introductionmentioning

confidence: 99%

MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1

Morelli

Falchetti

Martineti

et al. 2000

European Journal of Endocrinology

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Multiple endocrine neoplasia type 1 (MEN 1) is a familial syndrome characterized by parathyroid, enteropancreatic and pituitary tumors. The gene responsible for this syndrome is localized at chromosomal 11q13 region and DNA markers from this region cosegregate with the disease. The recent identification of the MEN1 gene, encoding for a protein termed menin of 610 amino acids, allowed mutational screening to be performed both in affected families and sporadic cases. To date many different heterozygous mutations, spreading across all the encoding sequence, have been identified in MEN 1 patients with no apparent mutational hot spots or genotype-phenotype correlation. To analyze the genetic alterations of the MEN1 gene occurring in Italian patients we performed mutational screening by Denaturant Gradient Gel Electrophoresis followed by sequencing of exons 2-10 of the MEN1 gene in 27 Italian MEN 1 families and in five sporadic cases. We identified 17 different heterozygous mutations in 60% of analyzed cases. Twelve of these mutations are novel. Two mutations each occurred twice in unrelated families but no evidence of genotype-phenotype correlation can be established for these families. The extension of genetic diagnosis to asymptomatic family members allowed the identification of 10 MEN1 mutant gene carriers, one newly described and nine previously detected by linkage analysis with DNA markers from the 11q13 region. Our findings add new information to the diversity of mutations occurring in the MEN1 gene and confirm that the mutational screening of MEN 1 is a useful approach to detect individuals at higher risk of developing MEN 1-associated tumors.

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“…MEN I is an autosomal dominant syndrome charac terized mainly by hyperplasia and/or multiple tumors of the parathyroid, endocrine pancreas, anterior pituitary, foregut-derived NE tissues, and adrenocortical glands (18). Somatic mutations of the MEN I gene have been reported in sporadic forms of endocrine tumors with a variable incidence of 20-30% in parathyroid, endocrine pancreas (33% gastrinomas, 17% insulinomas), 25% of lung carcinoids, but less than 1% in pituitary and adrenocortical tumors (15).…”

Section: Tumor Biologymentioning

confidence: 99%

Neuroendocrine Tumors — Laboratory Diagnosis

Tzontcheva¹

2010

Journal of Medical Biochemistry

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Kratak sadr`aj: Neuroendokrini tumori (NETs) jesu heterogena grupa neoplazmi poreklom iz endokrinih }elija, koje odlikuju prisustvo sekretornih granula i sposobnost produkcije biogenih amina i polipeptidnih hormona. Ovi tumori poti ~u od endokrinih `lezda kao {to su adrenalna medula, hipofiza i paratiroide, kao i endokrinih insula u okviru tiroide ili pankreasa i raspr{enih endokrinih }elija u respiratornom ili gastrointestinalnom traktu. Klini~ko pona{anje NETs varira u znatnoj meri. Oni mogu biti funkcionalni ili nefunkcionalni, kao i spororastu}i (uspe{no diferentovani NETs), koji ~ine ve}inu, ili veoma agresivni i vrlo zlo}udni tumori (nedovoljno diferentovani NETs). NETs gastrointestinalnog trakta obi~no se dele na dve glavne grupe: 1) karcinoide, i 2) endokrine tumore pankreasa (EPTs). Ve}ina neuroendokrinih tumora proizvodi i sekretuje peptidne hormone i amine. Neke od tih supstanci izazivaju specifi~ne klini~ke sindrome: karcinoidni, Zolinger-Elisonov, hiperglikemijski, glukagonom i VernerMo risonov. Specifi~ni markeri za te sindrome su bazalni i/ili stimulisani nivoi 5-HIAA u urinu, gastrina, insulina, glukagona i vazoaktivnog intestinalnog polipeptida u serumu ili plazmi. Neki karcinoidni tumori kao i otprilike tre}ina endokrinih tumora pankreasa ne daju nikakve klini~ke simptome i nazivaju se »nefunkcionalnim« tumorima. Stoga se uobi ~a -jeni tumorski markeri, poput hromogranina A, pankreasnog polipeptida, neuron-specifi~ne enolaze u serumu i podjedinica glikoproteinskih hormona, koriste za skrining kod pa cijenata bez jasnih klini~kih simptoma vezanih za hormo ne. Me u uobi~ajenim tumorskim markerima kao veoma osetljiv i specifi~an serumski marker za razli~ite tipove neuro endokrinih tumora pokazao se pankreasni polipeptid hro mogranin A, iako njegova funkcija jo{ nije ustanovljena. Razlog tome je {to mo`e biti povi{en i u mnogim slu~ajevima nedovoljno diferentovanih tumora neuroendokrinog porekla koji ne lu~e poznate hormone. Hromogranin A se u ovom trenutku smatra najboljim neuroendokrinim markerom u serumu ili plazmi koji je dostupan za dijagnozu i terapeutsku evaluaciju.

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The Natural History of Multiple Endocrine Neoplasia Type 1

Cited by 158 publications

References 9 publications

Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: natural history and function of menin in tumorigenesis

Thoracic and duodenopancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: natural history and function of menin in tumorigenesis

MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1

Neuroendocrine Tumors — Laboratory Diagnosis

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