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Leukemia in cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene

https://asahikawa-med.repo.nii.ac.jp/records/1529
https://asahikawa-med.repo.nii.ac.jp/records/1529
24cd1364-4a7d-4a1a-9eae-d46fc81c7c8f
名前 / ファイル ライセンス アクション
2042.pdf 2042.pdf (403.0 kB)
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

× 蒔田, 芳男

ja 蒔田, 芳男

ja-Kana マキタ, ヨシオ

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Narumi, Y

× Narumi, Y

en Narumi, Y

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Yoshida, M

× Yoshida, M

Yoshida, M

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Niihori, T

× Niihori, T

en Niihori, T

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Kure, S

× Kure, S

Kure, S

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Fujieda, K

× Fujieda, K

en Fujieda, K

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Matsubara, Y

× Matsubara, Y

en Matsubara, Y

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Aoki, Y

× Aoki, Y

en Aoki, Y

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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
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ダウンロード数(XooNIps)
1789
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Cite as

蒔田, 芳男, Narumi, Y, Yoshida, M, Niihori, T, Kure, S, Fujieda, K, Matsubara, Y, Aoki, Y, n.d., Leukemia in cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene: 287–290 p.

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