Development of novel therapies for childhood cancers and congenital anomaly syndromes using integrated genetic scanning

2015 Fiscal Year Final Research Report

• Project/Area Number: 26670493
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: The University of Tokyo
• Principal Investigator: Takita Junko 東京大学, 医学部附属病院, 准教授 (00359621)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 広汎性発達障害 / 精神運動発達遅滞 / 自閉症 / 神経芽腫 / 横紋筋肉腫 / Ewing肉腫

Outline of Final Research Achievements

We performed exome sequencing of 3 mental retardation cases with solid tumors. Case 1 was a 4 year-old boy who developed neuroblastoma and suffered from intellectual disorder. Case 2 was 7 year-old boy with rhabdomyosarcoma and developmental disorder with minor anomalies. Case 3 was 24 year-old man with autism and Ewing sarcoma. ALK mutation was shared in primary and relapsed tumor samples of Case 1, whereas no shared mutation was detected in Case 2. A novel germline mutations of CSMD2, which is one of target genes of familial myoclonus was detected in Case 1. In addition, a novel gernline mutation of CNTN6 was found in Case 2, which is thought to be involved in the neural development and tumorigenesis of ovarian cancer. Furthermore, APC and PTEN have been identified as germline mutations of Case 3. Our results suggests that CSMD2, CNTN6, APC and PTEN are involved in the common pathways of development delay and tumorigenesis

Free Research Field

小児腫瘍