| Item type |
学術雑誌論文 / Journal Article_02(1) |
| 公開日 |
2009-04-24 |
| タイトル |
|
|
タイトル |
Leukemia in cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ |
journal article |
| 著者 |
蒔田, 芳男
Narumi, Y
Yoshida, M
Niihori, T
Kure, S
Fujieda, K
Matsubara, Y
Aoki, Y
|
| 著者 ローマ字 |
|
|
|
Makita, Yoshio |
| 著者 ローマ字 |
|
|
|
en |
| 書誌情報 |
Journal of Pediatric Hematology/Oncology
巻 29,
号 5,
p. 287-290,
発行日 2007-05-01
|
| ISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1077-4114 |
| DOI |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1097/MPH.0b013e3180547136 |
| リンクURL |
|
|
内容記述タイプ |
Other |
|
内容記述 |
http://journals.lww.com/jpho-online/Pages/default.aspx | http://journals.lww.com/jpho-online/Pages/default.aspx |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by a distinctive facial appearance, ectodermal abnormalities, and heart defects. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in 2 genes that encode molecules of the RAS/MAPK (mitogen activated protein kinase) pathway (PTPN11 and HRAS, respectively). Recently, mutations in KRAS, BRAF, and MEK1/2 have been identified in patients with CFC syndrome. Somatic mutations in KRAS and BRAF have been identified in various tumors. In contrast, the association with malignancy has not been noticed in CFC syndrome. Here we report a 9-year-old boy diagnosed with CFC syndrome and acute lymphoblastic leukemia. Sequencing analysis of the entire coding region of KRAS and BRAF showed a de novo germline BRAF E501G (1502A→G) mutation. Molecular diagnosis and careful observations should be considered in children with CFC syndrome because they have germline mutations in proto-oncogenes and might develop malignancy. |
|
言語 |
en |
| 注記 |
|
|
内容記述タイプ |
Other |
|
注記 |
This is a non-final version of an article published in final form in Makita, Yoshio ; Narumi, Yoko ; Yoshida, Makoto ; Niihori, Tetsuya ; Kure, Shigeo ; Fujieda, Kenji ; Matsubara, Yoichi ; Aoki, Yoko, Leukemia in cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene, Journal of Pediatric Hematology/Oncology 29(5), MAY 2007, pp. 287-290
\nauthor |
|
言語 |
en |
| 資源タイプ |
|
|
内容記述タイプ |
Other |
|
資源タイプ |
text |
| 著者版フラグ |
|
|
出版タイプ |
AM |
| フォーマット |
|
|
内容記述タイプ |
Other |
|
内容記述 |
application/pdf |
| ID(XooNIps) |
|
|
|
17483702 |
| 閲覧数(XooNIps) |
|
| ダウンロード数(XooNIps) |
|
|
|
1789 |
2042.pdf (403.0 kB)
