De Martino I, Fedele M, Palmieri D, Visone R, Cappabianca P, Wierinckx A, Trouillas J, Fusco A
Institute of Experimental Endocrinology and Oncology, CNR and Department of Cellular and Molecular Biology and Pathology, University of Naples Federico II, Naples, Italy.
J Endocrinol Invest. 2007 Jan;30(1):RC1-3. doi: 10.1007/BF03347386.
Pituitary tumors are a relatively common neoplasia whose pathogenesis is still largely unknown. Recent studies have revealed frequent activating mutations of the gene for B-RAF, an effector of Ras protein in the mitogen-activated protein kinase pathway, in several malignancies, including melanoma, thyroid, colorectal and ovarian cancer. However, analyses of B-RAF mutations in pituitary tumors have not been reported so far. Therefore, in the present study we have investigated the presence of the B-RAF mutations, by polymerase chain reaction (PCR) amplification of the hot spot exons 11 and 15, followed by direct sequencing, in 50 human pituitary adenomas, including 25 NFPA and 25 secreting adenomas (10 GH, 5 PRL, 6 LH and/or FSH, 4 GH/PRL). We found only one V600E mutation in a NFPA sample, suggesting that B-RAF mutations are a rare event in pituitary tumorigenesis.
垂体肿瘤是一种相对常见的肿瘤,其发病机制在很大程度上仍不清楚。最近的研究显示,在包括黑色素瘤、甲状腺癌、结直肠癌和卵巢癌在内的几种恶性肿瘤中,丝裂原活化蛋白激酶途径中Ras蛋白的效应器B-RAF基因频繁发生激活突变。然而,目前尚未见关于垂体肿瘤中B-RAF突变分析的报道。因此,在本研究中,我们通过聚合酶链反应(PCR)扩增热点外显子11和15,随后进行直接测序,对50例人类垂体腺瘤(包括25例无功能垂体腺瘤和25例分泌性腺瘤,后者包括10例生长激素瘤、5例催乳素瘤、6例促黄体生成素和/或促卵泡生成素瘤、4例生长激素/催乳素瘤)中B-RAF突变的存在情况进行了研究。我们在1例无功能垂体腺瘤样本中仅发现1例V600E突变,这表明B-RAF突变在垂体肿瘤发生过程中是一种罕见事件。