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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2009.1
- 수록면
- 15 - 22 (8page)
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Purpose: MEN1 gene mutation causes multiple endocrine neoplasia type 1. It also suggests that somatic MEN1 gene mutation plays a role in sporadic endocrine tumor. In this study, we examined whether somatic mutations of MEN1 gene are responsible for sporadic parathyroid tumors and correlate with clinical manifestations of parathyroid tumors.
Methods: Somatic mutation of MEN1 gene in the formalin-fixed, paraffin-embedded parathyroid tumor tissue from 8 adenomas, 2 carcinomas and 1 hyperplasia were analyzed by direct sequencing. Clinicopathological parameters were reviewed from medical records and compared with the mutational data.
Results: Eight of eleven (73%) sporadic parathyroid tumors had somatic MEN1 mutations of 14 different types. In the 14 types, 13 were a point mutation which is composed of 8 missense mutations, 2 nonsense mutations and 3 silent mutations. One of 14 types is a frameshift deletion of 27 base pairs in exon 2. Somatic mutation was frequent in the exon 2 and exon 10. Four types of polymorphism were found. There was no correlation between the presence of mutations and clinicopathological phenotype of parathyroid tumors.
Conclusion: This result suggests that somatic mutation of MEN1 gene plays a definite role in sporadic parathyroid tumor formation.
Methods: Somatic mutation of MEN1 gene in the formalin-fixed, paraffin-embedded parathyroid tumor tissue from 8 adenomas, 2 carcinomas and 1 hyperplasia were analyzed by direct sequencing. Clinicopathological parameters were reviewed from medical records and compared with the mutational data.
Results: Eight of eleven (73%) sporadic parathyroid tumors had somatic MEN1 mutations of 14 different types. In the 14 types, 13 were a point mutation which is composed of 8 missense mutations, 2 nonsense mutations and 3 silent mutations. One of 14 types is a frameshift deletion of 27 base pairs in exon 2. Somatic mutation was frequent in the exon 2 and exon 10. Four types of polymorphism were found. There was no correlation between the presence of mutations and clinicopathological phenotype of parathyroid tumors.
Conclusion: This result suggests that somatic mutation of MEN1 gene plays a definite role in sporadic parathyroid tumor formation.
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결론
REFERENCES
참고문헌 (21)
참고문헌 신청
1. [학술지(정기간행물)] - Chandrasekharappa SC / 1997 / Positional cloning of the gene for multiple endocrine neoplasia-type 1 / Science 276 : 404 ~ 407
2. [학술지(정기간행물)] - Thakker RV / 2001 / Molecular genetics and patient management of multiple endocrine neoplasia type 1 / Best Pract Res Clin Endocrinol Metab 15 : 189 ~ 212
3. [학술지(정기간행물)] - Pannett AA / 1999 / Multiple endocrine neoplasia type 1 / Endocr Relat Cancer 6 : 449 ~ 473
4. [학술지(정기간행물)] - Farnebo F / 1998 / Alterations of the MEN1 gene in sporadic parathyroid tumors / J Clin Endocrinol Metab 83 : 2627 ~ 2630
5. [학술지(정기간행물)] - Heppner C / 1997 / Somatic mutation of the MEN1 gene in parathyroid tumours / Nat Genet 16 : 375 ~ 378
2. [학술지(정기간행물)] - Thakker RV / 2001 / Molecular genetics and patient management of multiple endocrine neoplasia type 1 / Best Pract Res Clin Endocrinol Metab 15 : 189 ~ 212
3. [학술지(정기간행물)] - Pannett AA / 1999 / Multiple endocrine neoplasia type 1 / Endocr Relat Cancer 6 : 449 ~ 473
4. [학술지(정기간행물)] - Farnebo F / 1998 / Alterations of the MEN1 gene in sporadic parathyroid tumors / J Clin Endocrinol Metab 83 : 2627 ~ 2630
5. [학술지(정기간행물)] - Heppner C / 1997 / Somatic mutation of the MEN1 gene in parathyroid tumours / Nat Genet 16 : 375 ~ 378
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UCI(KEPA) : I410-ECN-0101-2013-514-002688299