Molecular analysis of tumorigenesis in multiple endocrine neoplasm type 1.

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K19563
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Endocrinology
• Research Institution: Department of Clinical Research, National Hospital Organization Kyoto Medical Center
• Principal Investigator: Kakita Maiko 独立行政法人国立病院機構(京都医療センター臨床研究センター), 内分泌代謝高血圧研究部, 研究員 (70770220)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: MEN1 / MLPA / MS-MLPA / エクソーム

Outline of Final Research Achievements

We have identified the novel putative splice variant (IVS5+1G>T) of MEN1. RT-PCR analysis demonstrated the variant cause alternative splicing. Loss of heterogeneity of the MEN1 variant had been demonstrated by exome sequencing. MLPA analysis and MS-MLPA was carried out to clarify the copy number and epigenetic alteration of 53 tumor suppressor genes. We have found the copy number alteration of VHL, GSTP1, CHFR, and BRCA1 in every MEN1 related tumor. The CASP9 hyper-methylation was observed in every tumor tissues.

Free Research Field

内分泌学