Research Project
Grant-in-Aid for Challenging Exploratory Research
We performed exome sequencing of 2 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. He suffered from developmental disorder and had minor anomalies. We sequenced exome of primary and relapsed tumors of both patients and normal sample of each. 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. Interestingly, deletion of CSMD2 was observed in both primary and relapsed tumors of 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. Our results suggests CSMD2 and CNTN6 are involved in the common pathways of development delay and tumorigenesis.
All 2014 2013 2012 Other
All Journal Article (34 results) (of which Peer Reviewed: 34 results, Open Access: 4 results) Presentation (104 results) (of which Invited: 5 results) Book (3 results)
Cancer Res
Volume: (Epub ahead of print)
Cancer Sci
Volume: 105 Issue: 3 Pages: 258-64
10.1111/cas.12352
Nephrol Dial Transplant
Volume: 29 Issue: 2 Pages: 376-84
10.1093/ndt/gft394
J Pediatr Hematol Oncol
Volume: 36 Issue: 1 Pages: e9-e12
10.1097/mph.0b013e318279e81c
Volume: 36 Issue: 2 Pages: 166-168
10.1097/mph.0b013e318290c686
Cancer Res.
Volume: in press
BMC Infectious Diseases
Volume: 13 Issue: 1 Pages: 465-465
10.1186/1471-2334-13-465
Biol Blood Marrow Transplant
Volume: 19 Issue: 12 Pages: 1690-1694
10.1016/j.bbmt.2013.09.012
Springerplus
Volume: 2 Issue: 1 Pages: 424-424
10.1186/2193-1801-2-424
Volume: 28 Issue: 8 Pages: 2123-2130
10.1093/ndt/gft216
Volume: 35 Issue: 7 Pages: e280-e282
10.1097/mph.0b013e31829182bb
Volume: 104 Issue: 7 Pages: 856-864
10.1111/cas.12173
120007089073
Neurology
Volume: 80 Issue: 17 Pages: 1571-1576
10.1212/wnl.0b013e31828f18d8
J Recept Signal Transduct Res.
Volume: 33 Issue: 2 Pages: 124-128
10.3109/10799893.2013.779279
J Pediatr.
Volume: 162 Issue: 6 Pages: 1285-1288
10.1016/j.jpeds.2013.01.003
上原記念生命科学財団研究報告集
Volume: 27 Pages: 1-5
40020201965
血液フロンティア
Volume: 24 Pages: 55-63
Nephrol Dial Transplant.
Bone Marrow Transplant.
Volume: 48 Issue: 2 Pages: 312-313
10.1038/bmt.2012.136
Bone Marrow Transplantat
Volume: 47 Issue: 10 Pages: 1307-1311
10.1038/bmt.2012.29
Leukemia
Volume: 26 Issue: 8 Pages: 1879-1881
10.1038/leu.2012.45
Oncogene
Volume: (in press) Issue: 44 Pages: 4667-4676
10.1038/onc.2011.616
Br J Haematol
Volume: 156 Issue: 5 Pages: 672-674
10.1111/j.1365-2141.2011.08900.x
Clin Exp Nephrol
Volume: 16 Issue: 1 Pages: 180-182
10.1007/s10157-011-0538-6
10030343374
J Pediatr Hematol Oncol.
Volume: Epub ahead of print
日本小児腎不全学会雑誌
Volume: 32 Pages: 195-7
日本小児科学会雑誌
Volume: 116 Pages: 1886-1891
10031145357
日本小児血液・がん学会雑誌
Volume: 49 Pages: 429-30
日本小児血液・がん学会雑誌.
Volume: 49 Pages: 431-7
血液内科(2185-582X)
Volume: 64 Pages: 133-8
Volume: 74 Pages: 2742-9
Oncology Letters
Volume: (in press)