scholarly journals Unique Gene Expression Profile Associated with an Early-Onset Multiple Endocrine Neoplasia (MEN1)-Associated Pituitary Adenoma

2011 ◽  
Vol 96 (11) ◽  
pp. E1905-E1914 ◽  
Author(s):  
William E. Farrell ◽  
Monalisa F. Azevedo ◽  
Dalia L. Batista ◽  
Alastair Smith ◽  
Isabelle Bourdeau ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Expression Profile ◽  
Early Onset ◽  
Pituitary Tumor ◽  
Multiple Endocrine Neoplasia ◽  
Expression Profiles ◽  
Immunohistochemical Analysis ◽  
Tumor Formation ◽  
Tumor Evolution ◽  
Endocrine Neoplasia

Abstract Context: Multiple endocrine neoplasia type 1 (MEN1) is caused by mutations in the menin (MEN1) gene. The mechanism(s) by which MEN1 mutations lead to pituitary tumor formation remain(s) unknown. Objective: The aim of the study was to identify the pediatric MEN1-associated pituitary tumor transcriptome. Patients and Methods: A patient harboring a MEN1 mutation (c.525C>G; p.H139D) who presented with an early-onset mammosomatotroph pituitary adenoma was studied. Microarray analysis was performed in the tumor sample and compared with the profile observed in normal pituitaries and in a sporadic mammosomatotropinoma. Validation of the microarray results was performed using quantitative real-time PCR and immunohistochemical analysis for selected genes. Results: In the MEN1-associated pituitary adenoma, 59 and 24 genes were found to be significantly up- and down-regulated, respectively. The up-regulated genes included those involved in cell growth and maintenance, apoptosis, growth arrest, and tumorigenesis. Moreover, we observed decreased expression in genes neuroendocrine in nature and related to growth or apoptosis. Only 21 of the 59 genes differentially expressed in the MEN1-associated adenoma showed a similar expression profile to that seen in the sporadic mammosomatotropinoma; for some genes an opposite expression profile was observed. Conclusions: We identified changes in the transcriptome that occur in pituitary GH- and PRL-producing cells after the loss of menin expression; some of the gene changes are necessary for tumor evolution, and others may be tertiary. Nevertheless, the rare overlap between the expression profiles of the MEN1 tumor vs. that of its sporadic counterpart suggests that these tumors evolve along different molecular pathways.

scholarly journals Pituitary Adenoma associated with Multiple Endocrine Neoplasia Type I : A Case Report

1997 ◽  
Vol 6 (2) ◽  
pp. 102-106
Author(s):  
Manabu Sasaki ◽  
Masaharu Sato ◽  
Junji Taguchi ◽  
Shigeto Matsumoto ◽  
Toru Sugase ◽  
...  
Keyword(s):  
Case Report ◽  
Pituitary Adenoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Type I ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Pituitary adenoma in patients with multiple endocrine neoplasia type 1 – a cohort study

2021 ◽  
Author(s):  
Maelle Le Bras ◽  
Hélène Leclerc ◽  
Olivia Rousseau ◽  
Pierre Goudet ◽  
Thomas Cuny ◽  
...  
Keyword(s):  
Cohort Study ◽  
Pituitary Adenoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Tumour Progression ◽  
Standard Of Care ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Objective: Pituitary adenoma (PA) is one of the three major components of multiple endocrine neoplasia type 1 (MEN1). Recent studies have suggested that MEN1-associated PAs are less aggressive than initially estimated. We propose an analysis of the outcome of PAs with standard of care treatment in a nationwide cohort of MEN1 patients. Design: Retrospective observational nationwide cohort study using the MEN1 patient registry from the French Group of Endocrine Tumours (GTE). Methods: The GTE database population consists of 1,435 patients with MEN1. This analysis focused on 551 patients recruited after 2000 with at least 3 years of follow-up. The study outcome was tumour progression of PA defined by an increase in Hardy classification (HC) during follow-up according to referring physician regular reports. Results: Among 551 MEN1 patients (index and related), 202 (36.7%) had PA, with 114 (56.4%) diagnosed by MEN1-related screening. PAs were defined according to HC as microadenoma (grade I) in 117 cases (57.9%), macroadenoma in 59 (29.2%) with 20 HC grade II and 39 HC grade III-IV and unspecified in 26 (12.8%). They were prolactinomas in 92 cases (45.5%) and non-secreting in 73 (36.1%). After a median follow-up of 3 years among the 137 patients with HC grades I-II, 4 patients (2.9%) presented tumour progression. Conclusion: PAs in patients with MEN1 are less aggressive than previously thought. Tumour progression is rare with standard of care monitoring and treatment, especially in related patients who mostly present non-secreting microadenoma. MRI monitoring for asymptomatic MEN1 patients should be reduced accordingly.

scholarly journals Plasma chromogranin A in patients with sporadic gastro-entero-pancreatic neuroendocrine tumors or multiple endocrine neoplasia type 1

2003 ◽  
pp. 39-43 ◽  
Author(s):  
M Peracchi ◽  
D Conte ◽  
C Gebbia ◽  
C Penati ◽  
S Pizzinelli ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Primary Hyperparathyroidism ◽  
Neuroendocrine Tumors ◽  
Chromogranin A ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Pancreatic Neuroendocrine Tumors ◽  
Men 1 ◽  
Endocrine Neoplasia

OBJECTIVE: As circulating chromogranin A (CgA) has been claimed to be the best general neuroendocrine marker so far available, we evaluated the usefulness of CgA determination in the clinical assessment of patients with sporadic gastro-entero-pancreatic neuroendocrine tumors (GEP NETs) or multiple endocrine neoplasia type 1 (MEN 1). DESIGN AND METHODS: Plasma CgA levels were measured using a commercial enzyme-linked immunosorbent assay in 61 patients with sporadic GEP NET and in 25 with MEN 1 including 16 with GEP NET. Controls were 50 healthy volunteers, 46 patients with pituitary adenoma and 35 patients with primary hyperparathyroidism. RESULTS: The cutoff value for CgA established in our healthy subjects (as mean+2 s.d.) was 20 U/l. CgA levels were above the normal range in 71/77 patients with sporadic or MEN 1-related GEP NETs (92%), in four out of nine MEN 1 patients without GEP NETs (44%), and only in 22/81 control patients with pituitary or parathyroid disease (27%). Furthermore, CgA levels of over 100 U/l occurred in 36/77 patients with GEP NETs (47%) and only in one patient with a non-functioning pituitary adenoma. In the patients with GEP NETs, both tumor burden and secretory activity affected CgA levels, and successful surgical resection was associated with markedly decreased CgA values. CONCLUSIONS: Plasma CgA was confirmed to be a reliable marker for GEP NETs. Moreover, in MEN 1 patients the finding of very high CgA levels strongly suggests the presence of a GEP NET, as both primary hyperparathyroidism and pituitary adenomas rarely cause marked CgA increases.

scholarly journals Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia

2007 ◽  
Vol 92 (8) ◽  
pp. 3321-3325 ◽  
Author(s):  
Marianthi Georgitsi ◽  
Anniina Raitila ◽  
Auli Karhu ◽  
Rob B. van der Luijt ◽  
Cora M. Aalfs ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Germline Mutation ◽  
Multiple Endocrine Neoplasia ◽  
Direct Sequencing ◽  
Academic Research ◽  
Human Tumor ◽  
The United States ◽  
Germline Mutations ◽  
Men1 Gene ◽  
Endocrine Neoplasia

Abstract Context: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20–25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27Kip1, was reported in one suspected MEN1 family with two acromegalic patients. Objective: Our objective was to evaluate the role of CDKN1B/p27Kip1 in human tumor predisposition in patients clinically suspected of MEN1 but testing negative for MEN1 germline mutation as well as in familial and sporadic acromegaly/pituitary adenoma patients. Design: Genomic DNA was analyzed for germline mutations in the CDKN1B/p27Kip1 gene by PCR amplification and direct sequencing. Setting: The study was conducted at nonprofit academic research and medical centers. Patients: Thirty-six Dutch and one German suspected MEN1 patient, who previously tested negative for germline MEN1 gene mutations, were analyzed. In addition, 19 familial and 50 sporadic acromegaly/pituitary adenoma patients from Europe and the United States were included in the study. Main Outcome Measures: We analyzed germline CDKN1B/p27Kip1 mutations in individuals with pituitary adenoma and MEN1-like features. Results: A heterozygous 19-bp duplication (c.59_77dup19) leading to a truncated protein product was identified in one Dutch patient with suspected MEN1 phenotype, pituitary adenoma, carcinoid tumor, and hyperparathyroidism (one of 36, 2.8%). No mutations were detected in either familial or sporadic acromegaly/pituitary adenoma patients. Conclusions: Our results support the previous finding that germline CDKN1B/p27Kip1 mutations predispose to a human MEN1-like condition. However, such mutations appear uncommon in suspected MEN1 cases and rare or nonexistent in familial or sporadic acromegaly/pituitary adenoma patients.

ACROMEGALY AND PITUITARY ADENOMA WITH PHAEOCHROMOCYTOMA: A VARIANT OF MULTIPLE ENDOCRINE NEOPLASIA

1981 ◽  
Vol 14 (6) ◽  
pp. 605-612 ◽  
Author(s):  
R. J. ANDERSON ◽  
E. G. LUFKIN ◽  
G. W. SIZEMORE ◽  
J. A. CARNEY ◽  
S. G. SHEPS ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia

Pituitary adenoma associated with pheochromocytoma/paraganglioma: A new form of multiple endocrine neoplasia

2016 ◽  
Vol 63 (9) ◽  
pp. 506-508
Author(s):  
Fernando Guerrero Pérez ◽  
Arturo Lisbona Gil ◽  
Mercedes Robledo ◽  
Pedro Iglesias ◽  
Carles Villabona Artero
Keyword(s):  
Pituitary Adenoma ◽  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
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