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A new mutation in the menin gene causes the multiple endocrine neoplasia type 1 syndrome with adrenocortical carcinoma
- Source :
- Endocrine. 39:153-159
- Publication Year :
- 2010
- Publisher :
- Springer Science and Business Media LLC, 2010.
-
Abstract
- Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant tumor syndrome that may be caused by mutations in the MEN1 gene on 11q13. Loss of function of the tumor suppressor gene MEN1 leads to synchronous or metachronous appearance of neuroendocrine tumors arising from neuroendocrine cells of the parathyroid and pituitary glands, the duodenum and pancreatic islets, and other endocrine organs such as the adrenal cortex. We here present a patient with MEN1 who developed hyperparathyroidism, multiple well differentiated functionally inactive neuroendocrine tumors of the pancreas and an adrenal carcinoma. We describe a new mutation at codon 443 in the coding region of exon 9 in the MEN1 gene, where a cytosine residue was exchanged for adenosine (TCCTAC) and, consequently, serine for tyrosine (p.Ser443Tyr; c.1328CA). [corrected] Also, we provide clinical data that may add to the genotype-phenotype discussion. We conclude that the novel mutation in the MEN1 gene described herein was clinically relevant.
- Subjects :
- congenital, hereditary, and neonatal diseases and abnormalities
endocrine system
endocrine system diseases
Tumor suppressor gene
Endocrinology, Diabetes and Metabolism
Neuroendocrine tumors
Biology
Fatal Outcome
Endocrinology
Proto-Oncogene Proteins
Adrenocortical Carcinoma
Multiple Endocrine Neoplasia Type 1
medicine
Humans
Point Mutation
Adrenocortical carcinoma
Endocrine system
Neoplasm Invasiveness
MEN1
Multiple endocrine neoplasia
Family Health
Adrenal cortex
Middle Aged
medicine.disease
Adrenal Cortex Neoplasms
medicine.anatomical_structure
Cancer research
Female
Pancreas
Subjects
Details
- ISSN :
- 15590100 and 1355008X
- Volume :
- 39
- Database :
- OpenAIRE
- Journal :
- Endocrine
- Accession number :
- edsair.doi.dedup.....fb9516d05ab6e008c3944359c7786cb4