Molecular analysis of tumorigenesis in multiple endocrine neoplasm type 1.

• 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
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2016: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: MEN1 / MLPA / MS-MLPA / エクソーム / メチル化 / 多発性内分泌腫瘍症1型 / exome

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.

Research Products

• [Journal Article] Importance of the Average Glucose Level and Estimated Glycated Hemoglobin in a Diabetic Patient with Hereditary Hemolytic Anemia and Liver Cirrhosis (2018)
  • Author(s): Rieko Nakatani, Takashi Murata, Takeshi Usui, Koki Moriyoshi, Toshiki Komeda, Yuichi Masuda, Maiko Kakita-Kobayashi, Tetsuya Tagami, Shinsaku Imashuku, Shigeo Kono, Kazunori Yamada, and Akira Shimatsu
  • Journal Title: Internal Medicine Volume: 57 Issue: 4 Pages: 537-543
  • DOI: 10.2169/internalmedicine.9135-17
  • NAID: 130006351502
  • ISSN: 0918-2918, 1349-7235
  • Peer Reviewed
• [Presentation] MEN1遺伝子に無発表variantを認めた高齢MEN1の1例 (2017)
  • Author(s): 小川達雄、臼井 健、畠山 寛、小杉理英子、米本崇子、川口真矢、鈴木 誠、森 潔、垣田真以子、井上達秀
  • Organizer: 第27回臨床内分泌代謝update
• [Presentation] 当科における甲状腺機能スクリーニングの重要性と治療介入への務め (2017)
  • Author(s): 小林 真以子、木田 尚子、木戸 健陽、村田 紘未、岡野 友美、吉田 彩、小野 淑子、岡田 園子、都築 朋子、岡田 英孝
  • Organizer: 第69回日本産婦人科学会
• [Presentation] 家族性甲状腺髄様癌に対するバンデタニブの治療効果 (2017)
  • Author(s): 垣田真以子、臼井健、濱中佳歩、小笠原辰樹、横本真希、笹井有美子、馬越洋宜、立木美香、成瀬光栄、島津章、田上哲也
  • Organizer: 第60回日本甲状腺学会
• [Presentation] 多発性内分泌腫瘍症1型の発症機序に迫る (2016)
  • Author(s): 垣田真以子
  • Organizer: 日本内分泌学会学術集会
  • Place of Presentation: 国立京都国際会館
  • Year and Date: 2016-04-21