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Expression and functional analysis of menin in a multiple endocrine neoplasia type 1 (MEN1) patient with somatic loss of heterozygosity in chromosome 11q13 and unidentified germline mutation of the MEN1 gene.
Endocrine. 2006 Jun; 29(3):485-90.E

Abstract

In some patients with multiple endocrine neoplasia type 1 (MEN1) it is not possible to identify a germline mutation in the MEN1 gene. We sought to document the loss of expression and function of the MEN1 gene product, menin, in the tumors of such a patient. The proband is an elderly female patient with primary hyperparathyroidism, pancreatic islet tumor, and breast cancer. Her son has primary hyperparathyroidism. No germline MEN1 mutation was identified in the proband or her son. However, loss of heterozygosity at the MEN1 locus and complete lack of menin expression were demonstrated in the proband's tumor tissue. The proband's cultured parathyroid cells lacked the normal reduction in proliferation and parathyroid hormone secretion in response to transforming growth factor- beta. This assessment provided insight into the molecular pathogenesis of the patient and provides evidence for a critical requirement for menin in the antiproliferative action of transforming growth factor-beta.

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Authors+Show Affiliations

Naito J
Division of Endocrinology/Metabolism, Neurology and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine, Japan.
Kaji H
No affiliation info available
Sowa H
No affiliation info available
Kitazawa R
No affiliation info available
Kitazawa S
No affiliation info available
Tsukada T
No affiliation info available
Hendy GN
No affiliation info available
Sugimoto T
No affiliation info available
Chihara K
No affiliation info available

MeSH

AgedChromosomes, Human, Pair 11FemaleGerm-Line MutationHumansHypercalcemiaHyperthyroidismLiver NeoplasmsLoss of HeterozygosityMicrosatellite RepeatsMultiple Endocrine Neoplasia Type 1Parathyroid HormoneParathyroid NeoplasmsPolymorphism, GeneticProto-Oncogene ProteinsTransforming Growth Factor betaTumor Cells, Cultured

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16943588

Citation

Naito, Junko, et al. "Expression and Functional Analysis of Menin in a Multiple Endocrine Neoplasia Type 1 (MEN1) Patient With Somatic Loss of Heterozygosity in Chromosome 11q13 and Unidentified Germline Mutation of the MEN1 Gene." Endocrine, vol. 29, no. 3, 2006, pp. 485-90.
Naito J, Kaji H, Sowa H, et al. Expression and functional analysis of menin in a multiple endocrine neoplasia type 1 (MEN1) patient with somatic loss of heterozygosity in chromosome 11q13 and unidentified germline mutation of the MEN1 gene. Endocrine. 2006;29(3):485-90.
Naito, J., Kaji, H., Sowa, H., Kitazawa, R., Kitazawa, S., Tsukada, T., Hendy, G. N., Sugimoto, T., & Chihara, K. (2006). Expression and functional analysis of menin in a multiple endocrine neoplasia type 1 (MEN1) patient with somatic loss of heterozygosity in chromosome 11q13 and unidentified germline mutation of the MEN1 gene. Endocrine, 29(3), 485-90.
Naito J, et al. Expression and Functional Analysis of Menin in a Multiple Endocrine Neoplasia Type 1 (MEN1) Patient With Somatic Loss of Heterozygosity in Chromosome 11q13 and Unidentified Germline Mutation of the MEN1 Gene. Endocrine. 2006;29(3):485-90. PubMed PMID: 16943588.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Expression and functional analysis of menin in a multiple endocrine neoplasia type 1 (MEN1) patient with somatic loss of heterozygosity in chromosome 11q13 and unidentified germline mutation of the MEN1 gene. AU - Naito,Junko, AU - Kaji,Hiroshi, AU - Sowa,Hideaki, AU - Kitazawa,Riko, AU - Kitazawa,Sohei, AU - Tsukada,Toshihiko, AU - Hendy,Geoffrey N, AU - Sugimoto,Toshitsugu, AU - Chihara,Kazuo, PY - 2006/02/10/received PY - 2006/03/02/revised PY - 2006/03/17/accepted PY - 2006/9/1/pubmed PY - 2006/11/15/medline PY - 2006/9/1/entrez SP - 485 EP - 90 JF - Endocrine JO - Endocrine VL - 29 IS - 3 N2 - In some patients with multiple endocrine neoplasia type 1 (MEN1) it is not possible to identify a germline mutation in the MEN1 gene. We sought to document the loss of expression and function of the MEN1 gene product, menin, in the tumors of such a patient. The proband is an elderly female patient with primary hyperparathyroidism, pancreatic islet tumor, and breast cancer. Her son has primary hyperparathyroidism. No germline MEN1 mutation was identified in the proband or her son. However, loss of heterozygosity at the MEN1 locus and complete lack of menin expression were demonstrated in the proband's tumor tissue. The proband's cultured parathyroid cells lacked the normal reduction in proliferation and parathyroid hormone secretion in response to transforming growth factor- beta. This assessment provided insight into the molecular pathogenesis of the patient and provides evidence for a critical requirement for menin in the antiproliferative action of transforming growth factor-beta. SN - 1355-008X UR - https://www.unboundmedicine.com/medline/citation/16943588/Expression_and_functional_analysis_of_menin_in_a_multiple_endocrine_neoplasia_type_1__MEN1__patient_with_somatic_loss_of_heterozygosity_in_chromosome_11q13_and_unidentified_germline_mutation_of_the_MEN1_gene_ L2 - https://dx.doi.org/10.1385/ENDO:29:3:485 DB - PRIME DP - Unbound Medicine ER -