Developing Effective Screening Strategies in Multiple Endocrine Neoplasia Type 1 (MEN 1) on the Basis of Clinical and Sequencing Data of German Patients with MEN 1

Schaaf, Ludwig; Pickel, James; Zinner, Kurt; Hering, Ursula; Höfler, Michael; Goretzki, P E; Spelsberg, F; Raue, Friedhelm; Mühlen, A. von zur; Gerl, H; Hensen, J.; Bartsch, Detlef K.; Rothmund, M; Schneyer, U; Dralle, H; Engelbach, M.; Karges, Wölfram; Stalla, G. K.; Höppner, Wolfgang

doi:10.1055/s-2007-970160

Cited by 47 publications

(36 citation statements)

References 50 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Although this interpretation was obviously not proved, the authors considered that this gender difference was due to a clinical bias. Recently, an overall female predominance was also observed in four MEN1 studies from the United States (nZ233), from the United Kingdom (nZ220), from Germany (nZ301), and from Finland (nZ82), showing proportions of women of 54, 57, 59, and 57%, thus very close to our figures of 58% (12,26,27,30). The 2007 study from Finland was particularly interesting because the cohort was constituted during a comparable period of time (1982)(1983)(1984)(1985)(1986)(1987)(1988)(1989)(1990)(1991)(1992)(1993)(1994)(1995)(1996)(1997)(1998)(1999)(2000)(2001) and was exclusively made of patients with ascertained MEN1 mutations.…”

Section: Discussionsupporting

confidence: 89%

“…These large cohorts comprised more than 200 MEN1 patients. period of MEN1 diagnosis), and in Germany (nZ306: 1980-2006 period of MEN1 diagnosis) (9,12,26,27). The multicenter aspect of this study reduces the risk of bias encountered in single-center cohorts, which may select patients through a specific aspect of the disease such as the age of the patient, or the organ involved (duodeno-pancreas, pituitary, parathyroid glands, etc.).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

Goudet¹,

Bonithon‐Kopp²,

Murat³

et al. 2011

European Journal of Endocrinology

106

View full text Add to dashboard Cite

Context: Multiple endocrine neoplasia type 1 (MEN1) disease is an autosomal dominant syndrome that is believed to equally affect men and women. This assumption has never been confirmed. Objective: The aims of this study were to evaluate the impact of gender on the prevalence of MEN1 lesions, on their lifetime probability of occurrence, and on the diagnosis of MEN1. Design: Data regarding a study of 734 cases of MEN1 from the multicenter 'Groupe d'étude des Tumeurs Endocrines' were analyzed. Results: There were 57.8% females. The prevalence and probability of pancreatic tumors were higher in males than in females (PZ0.06, PZ0.0004). This difference was due to gastrinomas. The prevalence and probability of developing pituitary tumors were significantly greater in females (P!0.001, P!0.0001). Thymic tumors were exclusively found in men. There were no significant gender differences in the prevalence and the probability of developing hyperparathyroidism, or adrenal and bronchial tumors, or in the proportion of positive genetic tests. A family history of MEN1 was more frequently found in men than in women at the time of diagnosis (PZ0.02). In the case of pituitary tumor, the proportion of patients diagnosed with MEN1 at the time of the first lesion was lower in women (44.2%) than in men (67.3%). Conclusion: The phenotype expression of the MEN1 disease gene was different in males and females. In female patients, the possibility of MEN1 is not sufficiently taken into account. Any patient presenting a lesion that belongs to the MEN1 spectrum, such as a pituitary tumor, should be closely questioned about their family history and should be tested for hypercalcemia.European Journal of Endocrinology 165 97-105

show abstract

Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

Goudet¹,

Bonithon‐Kopp²,

Murat³

et al. 2011

European Journal of Endocrinology

106

View full text Add to dashboard Cite

show abstract

“…In historical series, ulcer disease due to gastrinoma was the most important cause of MEN1-related death (Ballard et al 1964), while this presently is malignant dpNETs (Schaaf et al 2007, Goudet et al 2010. In patients with MEN1-related dpNETs, estimated 10-year survival is 75% (Carty et al 1998, Kouvaraki et al 2006.…”

Section: Epidemiologymentioning

confidence: 99%

“…NETs associated with MEN1 are lung NETs, thymic NETs (thNETs), gastrin NETs, and dpNETs. MEN1-related NETs are an important cause of morbidity and presently malignant dpNETs and thNETs are the main cause of MEN1-related death (Schaaf et al 2007, Goudet et al 2010.…”

Section: Introductionmentioning

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

View full text Add to dashboard Cite

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.

show abstract

“…al. 9 These patients tended to have familial, rather than sporadic, GEP-NETs, and they possessed truncating mutations. 9 Another example is familial isolated primary hyperparathyroidism.…”

Section: Discussionmentioning

confidence: 99%

Neuroendocrine Tumors in the Stomach, Duodenum, and Pancreas Accompanied by Novel MEN1 Gene Mutation

Yang

Lee

Shin

et al. 2017

Korean J Gastroenterol

View full text Add to dashboard Cite

Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. A 53-year-old man visited our hospital to manage gastric NET. Five years prior to his visit, he had undergone surgery for incidental meningioma. His brother had pancreatic nodules and a history of surgery for adrenal adenoma. His brother's daughter also had pancreatic nodules, but had not undergone surgery. The lesion was treated by endoscopic submucosal dissection and diagnosed as a grade 1 NET. Another small NET was detected in the second duodenal portion, resected by endoscopic submucosal dissection, which was also diagnosed as a grade 1 NET. During evaluation, three nodules were detected in the pancreas, and no evidence of pituitary, parathyroid tumors, or metastasis was observed. After surgery, the pancreatic lesions were diagnosed as NETs, with the same immunohistochemical patterns as those of the stomach and duodenum. Genetic testing was performed, and a heterozygous mutation was detected in the MEN1 gene, which is located on 11q13. (Korean J Gastroenterol 2017;69:181-186)

show abstract

Developing Effective Screening Strategies in Multiple Endocrine Neoplasia Type 1 (MEN 1) on the Basis of Clinical and Sequencing Data of German Patients with MEN 1

Abstract: In view of the morbidity and frequency in familial cases an effective screening programme should aim at an early diagnosis of GEP particularly when truncating, especially nonsense mutations are found.

Cited by 47 publications

References 50 publications

Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

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

Neuroendocrine Tumors in the Stomach, Duodenum, and Pancreas Accompanied by Novel MEN1 Gene Mutation

Contact Info

Product

Resources

About