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Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.
Clin Endocrinol (Oxf). 2006 Jul; 65(1):9-16.CE

Abstract

BACKGROUND

A subset of familial isolated primary hyperparathyroidism (FIHP) is a variant of hyperparathyroidism-jaw tumour syndrome (HPT-JT). AIM/PATIENTS AND METHODS: We investigated the involvement of the HRPT2, MEN1 and CASR genes in 11 provisional FIHP families and two HPT-JT families.

RESULTS

Germline mutations of HRPT2 were found in two of the 11 FIHP families and one of the two HPT-JT families. One FIHP family with parathyroid carcinoma and atypical adenomas and another FIHP family with cystic parathyroid adenoma had novel frameshift mutations of 518-521del and 62-66del, respectively. In a patient with HPT-JT, a de novo germline mutation of 39delC was detected. Novel somatic HRPT2 mutations of 70-73del and 95-102del were found in two of five parathyroid tumours in a family with a 518-521del mutation. Biallelic inactivation of HRPT2 by a combination of germline and somatic mutation was confirmed in the parathyroid tumours. The finding that two families diagnosed with FIHP carried HRPT2 mutations suggests that they have occult HPT-JT. In the remaining 10 families, one family had a missense MEN1 mutation. No mutations of CASR were detected.

CONCLUSION

Our results confirm the need to test for HRPT2 in FIHP families, especially those with parathyroid carcinomas, atypical adenomas or adenomas with cystic change.

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Authors+Show Affiliations

Mizusawa N
Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan.
Uchino S
No affiliation info available
Iwata T
No affiliation info available
Tsuyuguchi M
No affiliation info available
Suzuki Y
No affiliation info available
Mizukoshi T
No affiliation info available
Yamashita Y
No affiliation info available
Sakurai A
No affiliation info available
Suzuki S
No affiliation info available
Beniko M
No affiliation info available
Tahara H
No affiliation info available
Fujisawa M
No affiliation info available
Kamata N
No affiliation info available
Fujisawa K
No affiliation info available
Yashiro T
No affiliation info available
Nagao D
No affiliation info available
Golam HM
No affiliation info available
Sano T
No affiliation info available
Noguchi S
No affiliation info available
Yoshimoto K
No affiliation info available

MeSH

AdenomaAdultAgedDNA Mutational AnalysisFemaleFrameshift MutationGene DeletionGenes, Tumor SuppressorGenotypeGerm-Line MutationHumansHyperparathyroidism, PrimaryJaw NeoplasmsLoss of HeterozygosityMaleMethylationMicrosatellite RepeatsMiddle AgedMultiple Endocrine Neoplasia Type 1MutationParathyroid NeoplasmsPedigreePromoter Regions, GeneticReceptors, Calcium-SensingSequence Analysis, DNATumor Suppressor Proteins

Pub Type(s)

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

Language

eng

PubMed ID

16817812

Citation

Mizusawa, Noriko, et al. "Genetic Analyses in Patients With Familial Isolated Hyperparathyroidism and Hyperparathyroidism-jaw Tumour Syndrome." Clinical Endocrinology, vol. 65, no. 1, 2006, pp. 9-16.
Mizusawa N, Uchino S, Iwata T, et al. Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol (Oxf). 2006;65(1):9-16.
Mizusawa, N., Uchino, S., Iwata, T., Tsuyuguchi, M., Suzuki, Y., Mizukoshi, T., Yamashita, Y., Sakurai, A., Suzuki, S., Beniko, M., Tahara, H., Fujisawa, M., Kamata, N., Fujisawa, K., Yashiro, T., Nagao, D., Golam, H. M., Sano, T., Noguchi, S., & Yoshimoto, K. (2006). Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clinical Endocrinology, 65(1), 9-16.
Mizusawa N, et al. Genetic Analyses in Patients With Familial Isolated Hyperparathyroidism and Hyperparathyroidism-jaw Tumour Syndrome. Clin Endocrinol (Oxf). 2006;65(1):9-16. PubMed PMID: 16817812.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. AU - Mizusawa,Noriko, AU - Uchino,Shinya, AU - Iwata,Takeo, AU - Tsuyuguchi,Masaru, AU - Suzuki,Yasuyo, AU - Mizukoshi,Tsunenori, AU - Yamashita,Yoshio, AU - Sakurai,Akihiro, AU - Suzuki,Shinichi, AU - Beniko,Mutsuo, AU - Tahara,Hideki, AU - Fujisawa,Masato, AU - Kamata,Nobuyuki, AU - Fujisawa,Kenji, AU - Yashiro,Tohru, AU - Nagao,Daisuke, AU - Golam,Hossain Md, AU - Sano,Toshiaki, AU - Noguchi,Shiro, AU - Yoshimoto,Katsuhiko, PY - 2006/7/5/pubmed PY - 2007/2/17/medline PY - 2006/7/5/entrez SP - 9 EP - 16 JF - Clinical endocrinology JO - Clin Endocrinol (Oxf) VL - 65 IS - 1 N2 - BACKGROUND: A subset of familial isolated primary hyperparathyroidism (FIHP) is a variant of hyperparathyroidism-jaw tumour syndrome (HPT-JT). AIM/PATIENTS AND METHODS: We investigated the involvement of the HRPT2, MEN1 and CASR genes in 11 provisional FIHP families and two HPT-JT families. RESULTS: Germline mutations of HRPT2 were found in two of the 11 FIHP families and one of the two HPT-JT families. One FIHP family with parathyroid carcinoma and atypical adenomas and another FIHP family with cystic parathyroid adenoma had novel frameshift mutations of 518-521del and 62-66del, respectively. In a patient with HPT-JT, a de novo germline mutation of 39delC was detected. Novel somatic HRPT2 mutations of 70-73del and 95-102del were found in two of five parathyroid tumours in a family with a 518-521del mutation. Biallelic inactivation of HRPT2 by a combination of germline and somatic mutation was confirmed in the parathyroid tumours. The finding that two families diagnosed with FIHP carried HRPT2 mutations suggests that they have occult HPT-JT. In the remaining 10 families, one family had a missense MEN1 mutation. No mutations of CASR were detected. CONCLUSION: Our results confirm the need to test for HRPT2 in FIHP families, especially those with parathyroid carcinomas, atypical adenomas or adenomas with cystic change. SN - 0300-0664 UR - https://www.unboundmedicine.com/medline/citation/16817812/Genetic_analyses_in_patients_with_familial_isolated_hyperparathyroidism_and_hyperparathyroidism_jaw_tumour_syndrome_ L2 - https://doi.org/10.1111/j.1365-2265.2006.02534.x DB - PRIME DP - Unbound Medicine ER -