Integrated analysis for pathogenesis of congenital disorders with cancers and developmental delay using innovative genomics
Project/Area Number |
24659491
|
Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
Allocation Type | Single-year Grants |
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) |
2012-04-01 – 2014-03-31
|
Project Status |
Completed (Fiscal Year 2013)
|
Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | エクソーム / CSMD2 / CNTN6 / Exome / 神経芽腫 / 横紋筋肉腫 / 発達障害 / exome解析 / ALK |
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.
|
Report
(3 results)
Research Products
(141 results)
-
[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.
-
Journal Title
Cancer Res
Volume: (Epub ahead of print)
Related Report
Peer Reviewed
-
[Journal Article] Genome-wide approach to identify second gene targets for malignant rhabdoid tumors using high-density oligonucleotide microarrays2014
Author(s)
Takita J, Chen Y, Kato M, Ohki K, Sato Y, Ohta S, Sugita K, Nishimura R, Hoshino N, Seki M, Sanada M, Oka A, Hayashi Y, Ogawa S
-
Journal Title
Cancer Sci
Volume: 105
Issue: 3
Pages: 258-64
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
[Journal Article] Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.2014
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.
-
Journal Title
Cancer Res.
Volume: in press
Related Report
Peer Reviewed
-
-
[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, et al
-
Journal Title
Biol Blood Marrow Transplant
Volume: 19
Issue: 12
Pages: 1690-1694
DOI
Related Report
Peer Reviewed
-
-
-
-
[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, Fukuyama M, Sanada M, Hayashi Y, Ogawa S
-
Journal Title
Cancer Sci
Volume: 104
Issue: 7
Pages: 856-864
DOI
NAID
Related Report
Peer Reviewed
-
-
-
[Journal Article] Aggressive transformation of juvenile myelomonocytic leukemia associated with duplication of oncogenic KRAS in consequence of acquired uniparental disomy.2013
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.
-
Journal Title
J Pediatr.
Volume: 162
Issue: 6
Pages: 1285-1288
DOI
Related Report
Peer Reviewed
-
-
-
[Journal Article] Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.2013
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, Murai M, Igarashi T.
-
Journal Title
Nephrol Dial Transplant.
Volume: in press
Related Report
Peer Reviewed
-
[Journal Article] ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus.2013
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 et al.
-
Journal Title
Neurology
Volume: in press
Related Report
Peer Reviewed
-
-
[Journal Article] Second allogeneic hematopoietic stem cell transplantation for relapsed acute lymphoblastic leukemia in children2012
Author(s)
3. Kato M, Horikoshi Y, Okamoto Y, YTakahashi Y, Hasegawa D, Koh K, Takita J, Inoue M, Kigasawa H, Ogawa A, Sasahara Y, Kawa K, Yabe H, Sakamaki H, Suzuki R, Kato K.
-
Journal Title
Bone Marrow Transplantat
Volume: 47
Issue: 10
Pages: 1307-1311
DOI
Related Report
Peer Reviewed
-
-
[Journal Article] Aberrant activation of ALK kinase by a novel truncated form ALK protein in neuroblastoma2012
Author(s)
Okubo J, Takita J, Chen Y, Oki K, Nishimura R, Kato M, Sanada M, Hiwatari M, Hayashi Y, Igarashi T, Ogawa S.
-
Journal Title
Oncogene
Volume: (in press)
Issue: 44
Pages: 4667-4676
DOI
Related Report
Peer Reviewed
-
[Journal Article] CBL mutations in infant acute lymphoblastic leukaemia2012
Author(s)
6. Shiba N, Park MJ, Taki T, Takita J, Hiwatari M, Kanazawa T, Sotomatsu M, Ishii E, Arakawa H, Ogawa S, Hayashi Y
-
Journal Title
Br J Haematol
Volume: 156
Issue: 5
Pages: 672-674
DOI
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
[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.
-
Journal Title
Cancer Res
Volume: 74
Pages: 2742-9
Related Report
Peer Reviewed
-
-
-
-
-
-
[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.
Related Report
-
-
[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
Related Report
-
[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
Related Report
-
-
[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
Related Report
-
[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
Related Report
-
[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.
Related Report
-
-
[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
Related Report
-
[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
Related Report
-
[Presentation] Exome sequencing analysis in rhabdomyosarcoma including metastatic or relapsed tumors.2013
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
Related Report
-
-
-
[Presentation] Identification of Somatic and Germline Mutations using Whole exome sequencing of hepatoblastoma.2013
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
Related Report
-
[Presentation] The Genetic landscapes of rhabdomyosarcoma.2013
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
Related Report
-
[Presentation] Genome-wide approach to identify gene targets of pleuropulmonary blastoma.2013
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.
Related Report
-
[Presentation] Genetic Landscapes Of Childhood T-Cell Acute Lymphoblastic Leukemia.2013
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.
Related Report
-
-
-
-
-
-
-
[Presentation] ターゲットキャプチャーを用いた神経芽腫におけるエピジェネティック関連遺伝子の網羅的ゲノム解析.2013
Author(s)
星野論子, 西村力, 関正史, 奥野友介, 吉田健一, 白石友一, 宮野悟, 林泰秀, 小川誠司, 岩中督, 滝田順子
Organizer
第50回 日本小児外科学会学術集会
Place of Presentation
東京
Related Report
-
-
[Presentation] Genome-wide analysis of relapsed T cell acute lymphoblastic leukemia.2013
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 75th Annual Meeting of the Japanese Society of Hematology
Place of Presentation
Sapporo
Related Report
-
[Presentation] Whole-exome resequencing reveals novel pathogenetic gene mutations in pediatric AML.2013
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 75th Annual Meeting of the Japanese Society of Hematology,
Place of Presentation
Sapporo
Related Report
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
[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
Related Report
-
-
-
-
-
[Presentation] Whole-exome sequencing of advanced neuroblastomas.2012
Author(s)
Nishimura R, Takita J, Yoshida K, Shiraishi Y, Hoshino N, Sanada M, Hayashi Y, Miyano S, Igarashi T, Ogawa S:
Organizer
Advances Neuroblastoma Research Conference
Place of Presentation
Toronto, Canada
Related Report
-
[Presentation] Whole-exome sequencing of advanced neuroblastomas using next-generation sequencer.2012
Author(s)
Nishimura R, Takita J, Yoshida K, Shiraishi Y, Okubo J, Hoshino N, Sanada M, Hayashi Y, Miyano S, Igarashi T, Ogawa S
Organizer
The 8th Congress of Asian Society for Pediatric Research
Place of Presentation
Seoul, Korea
Related Report
-
-
-
-
[Presentation] Kasabach-Merritt syndromeを呈したKaposiform hemangioendotheliomaの1例2012
Author(s)
苗代 有鈴, 樋渡 光輝, 塩澤 亮輔, 本村 あい, 滝田 順子, 井田 孔明, 川嶋 寛, 赤羽 正章, 河野 博隆, 高澤 豊, 五十嵐 隆
Organizer
第115回日本小児科学会学術集会
Place of Presentation
福岡
Related Report
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
[Presentation] T細胞性ALLにおける網羅的ゲノム解析
Author(s)
樋渡光輝, 関正史, 西村力, 星野論子, 奥野雄介, 白石悠一, 吉田健一, 林泰秀, 加藤元博, 康勝好, 花田良二, 宮野悟, 小川誠司, 滝田順子
Organizer
北関東小児がん学会
Place of Presentation
群馬
Related Report
-
-
-
-
-
-