Copy number amplification of the PIK3CA gene is associated with poor prognosis in non-lymph node metastatic head and neck squamous cell carcinoma.
Copy number amplification of the PIK3CA gene is associated with poor prognosis in non-lymph node metastatic head and neck squamous cell carcinoma.
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DOI：
10.1186/1471-2407-12-416
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发表时间：
2012-09-20
期刊：
影响因子：
3.8
通讯作者：
Moriyama H
中科院分区：
文献类型：
--
作者：
Suda T;Hama T;Kondo S;Yuza Y;Yoshikawa M;Urashima M;Kato T;Moriyama H
EGFR信号通路的失调是最常见的驱动癌症发展的遗传异常之一。尽管在许多癌症中报告了EGFR信号传导途径下游组分（包括KRAS、BRAF和PIK 3CA）的突变，但尚未对头颈部鳞状细胞癌（HNSCC）进行临床样本中这些基因的广泛突变和拷贝数分析。我们检测了115例手术治疗的HNSCC患者的临床标本中KRAS、BRAF和PIK 3CA的突变和拷贝数改变。我们使用DNA测序来检测突变，并通过qPCR和阵列比较基因组杂交（CGH）分析来评估拷贝数变化。我们检测了115例手术治疗的HNSCC患者的临床标本中KRAS、BRAF和PIK 3CA的突变和拷贝数改变。我们在K-RAS中发现了3个突变（2.6%），在PIK 3CA中发现了3个突变（2.6%）。在37例（32.2%）PIK 3CA、10例（8.7%）K-RAS和2例（1.7%）BRAF中发现拷贝数扩增。Kaplan-Meier生存分析显示，PIK 3CA拷贝数扩增与无淋巴结转移患者的癌症复发显著相关。（对数秩检验，p = 0.026）PIK 3CA基因的拷贝数扩增与无淋巴结转移的HNSCC患者的不良预后相关。PIK 3CA拷贝数状态将作为HNSCC患者预后不良的标志。
Deregulation of the EGFR signaling pathway is one of the most frequently observed genetic abnormalities that drives cancer development. Although mutations in the downstream components of the EGFR signaling pathway, including KRAS, BRAF and PIK3CA, have been reported in numerous cancers, extensive mutation and copy number analysis of these genes in clinical samples has not been performed for head and neck squamous cell carcinoma (HNSCC). We examined the mutations and copy number alterations of KRAS, BRAF and PIK3CA in 115 clinical specimens of HNSCC obtained from surgically treated patients. We used DNA sequencing to detect mutations and the copy number changes were evaluated by qPCR and array comparative genomic hybridization (CGH) analysis. We examined the mutations and copy number alterations of KRAS, BRAF and PIK3CA in 115 clinical specimens of HNSCC obtained from surgically treated patients. We identified 3 mutations (2.6%) in K-RAS and 3 mutations (2.6%) in PIK3CA. Copy number amplification was found in 37 cases (32.2%) for PIK3CA, 10 cases (8.7%) for K-RAS and 2 cases (1.7%) for BRAF. Kaplan-Meier survival analysis revealed that copy-number amplification of PIK3CA was markedly associated with cancer relapse in patients without lymph node metastasis. (Log-rank test, p = 0.026) Copy number amplification of the PIK3CA gene is associated with poor prognosis in HNSCC patients without lymph node metastasis. The PIK3CA copy number status will serve as a marker of poor prognosis in patients with HNSCC.
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影响因子：
6.4
作者：
Lockwood, William W.;Coe, Bradley P.;Lam, Wan L.
通讯作者：
Lam, Wan L.
用PI3K/AKT/MTOR轴抑制剂治疗的晚期癌症患者的PIK3CA突变。
影响因子：
5.7
作者：
Janku F;Tsimberidou AM;Garrido-Laguna I;Wang X;Luthra R;Hong DS;Naing A;Falchook GS;Moroney JW;Piha-Paul SA;Wheler JJ;Moulder SL;Fu S;Kurzrock R
通讯作者：
Kurzrock R
结直肠癌关键基因组 KRAS-BRAF-PIK3CA-PTEN-TP53 的 DNA 序列图谱与发病年龄相关。
影响因子：
3.7
作者：
Berg M;Danielsen SA;Ahlquist T;Merok MA;Ågesen TH;Vatn MH;Mala T;Sjo OH;Bakka A;Moberg I;Fetveit T;Mathisen Ø;Husby A;Sandvik O;Nesbakken A;Thiis-Evensen E;Lothe RA
通讯作者：
Lothe RA
影响因子：
5.7
作者：
Fendri, Ali;Khabir, Abdelmajid;Mokdad-Gargouri, Raja
通讯作者：
Mokdad-Gargouri, Raja
影响因子：
3.5
作者：
Liu, Xiuli;Jakubowski, Maureen;Hunt, Jennifer L.
通讯作者：
Hunt, Jennifer L.