俄亥俄州立大學(xué)的研究人員已經(jīng)發(fā)現(xiàn)一種遺傳癌癥綜合征，它使特定人群易患眼黑素瘤,，隨同肺癌、腦癌和其他癌癥可能的其他類型癌癥。
研究人員指出，遺傳性癌癥綜合征由稱為BAP1的基因的遺傳突變所引起,。研究結(jié)果表明，BAP 1突變?cè)谝恍〔糠只歼z傳性葡萄膜黑色素瘤（uveal melanoma）和其他癌癥的病人中引起疾病,。
葡萄膜黑色素瘤是一種眼睛癌癥,，它涉及虹膜、睫狀體或脈絡(luò)膜,，這些統(tǒng)稱為葡萄膜,。這些腫瘤發(fā)生在色素細(xì)胞，色素細(xì)胞也稱為黑素細(xì)胞,，存在于葡萄膜內(nèi)給眼睛賦以顏色。這是成年人中最常見(jiàn)的眼腫瘤,。
研究結(jié)果發(fā)表在期刊Journal of Medical Genetics上,。
研究的第一作者M(jìn)ohamed H. Abdel-Rahman博士是俄亥俄州立大學(xué)綜合性腫瘤中心--Arthur G. James腫瘤醫(yī)院和Richard J. Solove研究所--的研究人員。"如果我們知道一個(gè)患者有這個(gè)特別的基因突變,，我們可以更加積極主動(dòng)與增加癌癥篩查來(lái)設(shè)法檢測(cè)這些其他的潛在癌癥,，就在它們開(kāi)始生長(zhǎng)時(shí)。"
研究的領(lǐng)導(dǎo)者Frederick H. Davidorf博士,，是俄亥俄州立大學(xué)眼科學(xué)名譽(yù)教授,，他解釋到，BAP 1在調(diào)節(jié)細(xì)胞生長(zhǎng)和增殖上似乎發(fā)揮重要作用,，此基因的喪失有助于導(dǎo)致癌癥,。
"如果我們的研究結(jié)果被驗(yàn)證，這將是很好的監(jiān)督這些患者在他們最可治療時(shí)及早檢測(cè)這些癌癥",，Davidorf說(shuō),，他在俄亥俄州與研究人員、醫(yī)生Colleen Cebulla博士一起治療眼腫瘤患者,。
這項(xiàng)研究涉及53個(gè)具高風(fēng)險(xiǎn)遺傳性癌癥的無(wú)聯(lián)系的葡萄膜黑色素瘤患者,，以及其中一個(gè)研究參考者的額外的家庭成員,。這項(xiàng)研究的53個(gè)病人中，研究人員在三例病人中鑒定出BAP 1胚變異,。
"我們還不確切知道這些病人易被誘發(fā)的完全模式,，還需要更多的研究"，Abdel-Rahman說(shuō),，他是俄亥俄州立大學(xué)醫(yī)學(xué)院人類遺傳學(xué)分部和眼科學(xué)的副教授,。
"到目前為止，我們已經(jīng)鑒定了大約六個(gè)患遺傳性癌癥綜合征的家庭,。我們與全國(guó)兒童醫(yī)院的研究人員一起正在為開(kāi)發(fā)篩查BAP 1基因突變臨床檢測(cè)而工作",，他說(shuō)，"患這一癌綜合征的家庭應(yīng)進(jìn)行遺傳突變篩查,，這些遺傳突變?cè)黾铀麄儼l(fā)生一些其他癌癥的風(fēng)險(xiǎn),。
參與這項(xiàng)研究的其他的俄亥俄州研究人員有：Robert Pilarski，James B. Massengill,，Benjamin N. Christopher ,，Getachew Boru，及美國(guó)科羅拉多州丹佛視網(wǎng)膜協(xié)會(huì)的Peter Hovland,。
研究的經(jīng)費(fèi)來(lái)自Patti Blow研究基金會(huì)眼科學(xué)資助,，美國(guó)癌癥協(xié)會(huì)也支持了這項(xiàng)研究。（生物谷bioon.com）
doi:10.1136/jmedgenet-2011-100156
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PMID:
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
M. H. Abdel-Rahman, R. Pilarski, C. M. Cebulla, J. B. Massengill, B. N. Christopher, G. Boru, P. Hovland, F. H. Davidorf
ABSTRACT Objective To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer. Design A total of 53 unrelated UM patients with high risk for hereditary cancer and five additional family members of one proband were studied. Mutational screening was carried out by direct sequencing. Results Of the 53 UM patients studied, a single patient was identified with a germline BAP1 truncating mutation, c. 799 C/T (p.Q267X), which segregated in several family members and was associated with UM and other cancers. Biallelic inactivation of BAP1 and decreased BAP1 expression were identified in the UM, lung adenocarcinoma and meningioma tumours from three family members with this germline BAP1 mutation. Germline BAP1 variants of uncertain significance, likely non-pathogenic, were also identified in two additional UM patients. Conclusion This study reports a novel hereditary cancer syndrome caused by a germline BAP1 mutation that predisposes patients to UM, lung carcinoma, meningioma, and possibly other cancers. The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes.
