2013 Fiscal Year Final Research Report
Integrated analysis for pathogenesis of congenital disorders with cancers and developmental delay using innovative genomics
| Project/Area Number |
24659491
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
TAKITA Junko 東京大学, 医学部附属病院, 准教授 (00359621)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | エクソーム / CSMD2 / CNTN6 / Exome |
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| Research Abstract |
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.
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Research Products
(44 results)
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[Journal Article] Flotillin-1 regulates oncogenic signaling in neuroblastoma cells by regulating ALK membrane association2014
Author(s)
Tomiyama A, Uekita T, Kamata R, Sasaki K, Takita J, Ohira M, Nakagawara A, Kitanaka C, Mori K, Yamaguchi H, Sakai R.
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Journal Title
Cancer Res
Volume: (Epub ahead of print)
Peer Reviewed
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[Journal Article] Comparison of intravenous with oral busulfan in allogeneic hematopoietic stem cell transplantation with myeloablative conditioning regimens for pediatric acute leukemia2013
Author(s)
Kato M, Takahashi Y, Tomizawa D, Okamoto Y, Inagaki J, Koh K, Ogawa A, Okada K, Cho Y, Takita J, Goto H, Sakamaki H, Yabe H, Kawa K, Suzuki R, Kudo K, Kato K.
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Journal Title
Biol Blood Marrow Transplant
Volume: 19
Pages: 1690-1694
DOI
Peer Reviewed
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[Journal Article] Mutational analyses of the ATP6V1B1 and ATP6VOA4 genes * in patients with primary distal renal tubular acidosis2013
Author(s)
Miura K, Sekine T, Takahashi K, Takita J, Harita Y, Ohki K, Park M-J, Hayashi Y, Tajima A, Ishihara M, Hisano M, Mural M, Igarashi T.
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Journal Title
Nephrol Dial Transplant
Volume: 28
Pages: 2123-2130
DOI
Peer Reviewed
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[Journal Article] Characterization of genetic lesions in rhabdomyosarcoma using a high-density single nucleotide polymorphism array2013
Author(s)
Nishimura R, Takita J, Sato-Otsubo A, Kato M Koh K, Hanada R, Tanaka Y, Kato K, Maeda D, Fukayama M, Sanada M, Hayashi Y, Ogawa S.
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Journal Title
Cancer Sci
Volume: 104
Pages: 856-864
DOI
Peer Reviewed
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[Journal Article] ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus2013
Author(s)
Shinohara M, Saitoh M, Nishizawa D, Ikeda K, Hirose S, Takanashi J, Takita J, Kikuchi K, Kubota M, Yamanaka G, Shiihara T, Kumakura A, Kikuchi M, Toyoshima M, Goto T, Yamanouchi H, Mizuguchi M.
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Journal Title
Neurology
Volume: 80
Pages: 1571-1576
DOI
Peer Reviewed
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[Journal Article] Aggressive transformation of juvenile myelomonocytic leukemia associated with duplication of oncogenic KRAS in consequence of acquired uniparental disomy2013
Author(s)
Kato M, Yasui N, Seki M, Kishimoto H, Sato-Otsubo A, Hasegawa D, Kiyokawa N, Hanada R. Ogawa S, Manabe A, Takita J, Koh K.
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Journal Title
J Pediatr
Volume: 162
Pages: 1285-1288
DOI
Peer Reviewed
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[Journal Article] Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma
Author(s)
Seki M, Yoshida K, Shiraishi Y, Shimamura T, Sato Y, Nishimura R, Okuno Y, Chiba K, Tanaka H, Kato K, Kato M, Hanada R, Nomura Y, Park MJ, Ishida T, Oka A, Igarashi T, Miyano S, Hayashi Y, Ogawa S, Takita J.
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Journal Title
Cancer Res
Volume: 74
Pages: 2742-9
DOI
Peer Reviewed
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[Presentation] Genetic Landscapes Of Childhood T-Cell Acute Lymphoblastic Leukemia2013
Author(s)
Seki M, Nishimura R, Hoshino N, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Miyano S, Hayashi Y, Ogawa S, Takita J.
Organizer
American Society of Hematology 2013
Place of Presentation
New Orleans, U.S.A.
Year and Date
20131207-10
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[Presentation] Genome-wide analysis of relapsed T cell acute lymphoblastic leukemia2013
Author(s)
Seki M, Hoshino N, Nishimura R, Okuno Y, Shiraishi Y, Yoshida K, Kato M, Koh K, Hanada R, Miyano S, Hayashi Y, Ogawa S, Takita J.
Organizer
The 75^<th> Annual Meeting of the Japanese Society of Hematology
Place of Presentation
Sapporo
Year and Date
20131011-13
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[Presentation] Whole-exome resequencing reveals novel pathogenetic gene mutations in pediatric AML2013
Author(s)
Shiba N, Yoshida K, Okuno Y, Shiraishi Y, Nagata Y, Kon A, Chiba K, Tanaka H, Ohki K, Kato M, Terui K, Park MJ, Kanazawa T, Takita J, Kudo K, Arakawa H, Ito E, Sanada M, Miyano S, Ogawa S, Hayashi Y.
Organizer
The 75^<th> Annual Meeting of the Japanese Society of Hematology
Place of Presentation
Sapporo
Year and Date
20131011-13
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[Presentation] Identification of Somatic and Germline Mutations using Whole exome sequencing of hepatoblastoma2013
Author(s)
Hoshino N, Nishimura R, Seki M, Okuno Y, Shiraishi Y, Sato Y, Yoshida K, Miyano S, Hahashi Y, Iwanaka T, Ogawa S, Takita J.
Organizer
The 45th Congress of the International Society of Paediatric Oncology
Place of Presentation
Hong Kong
Year and Date
20130925-28
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[Presentation] The Genetic landscapes of rhabdomyosarcoma2013
Author(s)
Nishimura R, Yoshida K, Shiraishi Y, Okuno Y, Seki M, Hoshimo N, Sanada M, Hayashi Y, Miyano S, Ogawa S, Takita J.
Organizer
The 45th Congress of the International Society of Paediatric Oncology
Place of Presentation
Hong Kong
Year and Date
20130925-28
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[Presentation] Exome sequencing analysis in rhabdomyosarcoma including metastatic or relapsed tumors2013
Author(s)
Nishimura R, Yoshida K, Shiraishi Y, Okuno Y, Seki M, Hoshino N, Sanada M, Hayashi Y, Miyano S, Ogawa S, Takita J.
Organizer
9th ASPR Congress
Place of Presentation
Malaysia
Year and Date
20130509-12
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[Presentation] Genome-wide analyses of pleuropulmonary blastoma2013
Author(s)
Seki M, Nishimiura R, Hoshino N, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Kato K, Miyano S, Hayashi Y, Ogawa S, Takita J.
Organizer
9th ASPR Congress
Place of Presentation
Malaysia
Year and Date
20130509-12
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[Presentation] Genome-wide approach to identify gene targets of pleuropulmonary blastoma2013
Author(s)
Seki M, Nishimura R, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Kato K, Hayashi Y, Miyano S, Ogawa S, Takita J.
Organizer
American Association for Cancer Research 2013
Place of Presentation
Washington DC, U.S.A.
Year and Date
20130406-10
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[Presentation]2012
Author(s)
Nishimura R, Takita J, Yoshida K, Shiraishi Y, Hoshino N, Sanada M et al.
Organizer
Advances Neuroblastoma Research Conference
Place of Presentation
Toront
Year and Date
20120618-21
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