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Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism.
Surgery. 2000 Mar; 127(3):337-41.S

Abstract

BACKGROUND

Multiple endocrine neoplasia type 1 (MEN 1) is a syndrome with tumors of many endocrine tissues. Germline MEN1 gene mutations were found in most patients with familial or sporadic MEN 1. Recently, somatic MEN1 gene mutations were also detected in sporadic non-MEN 1 endocrine tumors.

METHODS

We used direct sequence analysis to investigate MEN1 gene mutations in 30 parathyroid tumors obtained from 30 patients with sporadic, nonfamilial primary hyperparathyroidism.

RESULTS

Four patients had somatic mutations of the MEN1 gene, comprising 1 small insertion (1091insAGC), one missense mutation (G42S), and 2 non-sense mutations (E388X, R460X). Identical missense and non-sense mutations were found in patients with familial and non-familial MEN 1. There were no differences between clinical features of patients with and without MEN1 gene mutations.

CONCLUSIONS

The incidence of somatic MEN1 gene mutations (13.3%) in Japanese patients with sporadic, nonfamilial primary hyperparathyroidism is almost equal to those of such patients in the United States and Sweden. Occasionally, the MEN1 gene mutation sites in sporadic parathyroid tumors are identical to those reported in tumors from patients with familial or sporadic MEN 1.

Authors+Show Affiliations

Department of Medicine, Tokyo Women's Medical University, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10715991

Citation

Sato, K, et al. "Somatic Mutations of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in Patients With Sporadic, Nonfamilial Primary Hyperparathyroidism." Surgery, vol. 127, no. 3, 2000, pp. 337-41.
Sato K, Yamazaki K, Zhu H, et al. Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism. Surgery. 2000;127(3):337-41.
Sato, K., Yamazaki, K., Zhu, H., Kanbe, M., Iihara, M., Wada, Y., Tanaka, R., Okamoto, T., Ito, Y., & Obara, T. (2000). Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism. Surgery, 127(3), 337-41.
Sato K, et al. Somatic Mutations of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in Patients With Sporadic, Nonfamilial Primary Hyperparathyroidism. Surgery. 2000;127(3):337-41. PubMed PMID: 10715991.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism. AU - Sato,K, AU - Yamazaki,K, AU - Zhu,H, AU - Kanbe,M, AU - Iihara,M, AU - Wada,Y, AU - Tanaka,R, AU - Okamoto,T, AU - Ito,Y, AU - Obara,T, PY - 2000/3/15/pubmed PY - 2000/3/25/medline PY - 2000/3/15/entrez SP - 337 EP - 41 JF - Surgery JO - Surgery VL - 127 IS - 3 N2 - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is a syndrome with tumors of many endocrine tissues. Germline MEN1 gene mutations were found in most patients with familial or sporadic MEN 1. Recently, somatic MEN1 gene mutations were also detected in sporadic non-MEN 1 endocrine tumors. METHODS: We used direct sequence analysis to investigate MEN1 gene mutations in 30 parathyroid tumors obtained from 30 patients with sporadic, nonfamilial primary hyperparathyroidism. RESULTS: Four patients had somatic mutations of the MEN1 gene, comprising 1 small insertion (1091insAGC), one missense mutation (G42S), and 2 non-sense mutations (E388X, R460X). Identical missense and non-sense mutations were found in patients with familial and non-familial MEN 1. There were no differences between clinical features of patients with and without MEN1 gene mutations. CONCLUSIONS: The incidence of somatic MEN1 gene mutations (13.3%) in Japanese patients with sporadic, nonfamilial primary hyperparathyroidism is almost equal to those of such patients in the United States and Sweden. Occasionally, the MEN1 gene mutation sites in sporadic parathyroid tumors are identical to those reported in tumors from patients with familial or sporadic MEN 1. SN - 0039-6060 UR - https://www.unboundmedicine.com/medline/citation/10715991/Somatic_mutations_of_the_multiple_endocrine_neoplasia_type_1__MEN1__gene_in_patients_with_sporadic_nonfamilial_primary_hyperparathyroidism_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0039-6060(00)14386-7 DB - PRIME DP - Unbound Medicine ER -