Vuttariello Emilia, Borra Marco, Mauriello Elvira, Calise Celeste, D'Andrea Barbara, Capiluongo Anna, Fulciniti Franco, Cipolletta Anna, Monaco Mario, Pezzullo Luciano, Chiappetta Gennaro
Functional Genomics Unit, Istituto Nazionale Tumori, IRCCS, Fondazione G. Pascale, Naples, Italy.
Molecular Biology and Bioinformatics Unit, Stazione Zoologica "A.Dorhn", Naples, Italy.
Oncotarget. 2017 Jul 25;8(30):49351-49358. doi: 10.18632/oncotarget.17656.
The most frequent initial manifestation of thyroid cancer is the appearance of a nodule. More than 20% of the general population has a palpable thyroid nodule and the percentage rises to 70% based on ultrasound identification. In 95% of cases the nodule is simply a hyperplastic or benign lesion. The most reliable diagnostic test for thyroid nodules is fine needle aspiration (FNA), but cytological discrimination between malignant and benign follicular neoplasms remains difficult. Cytological analysis is now, almost routinely, being combined with molecular genetics to enable the pathologist to make a more objective diagnosis. In this study, we performed the molecular analysis using a new simplified procedure that involves a panel of BRAF, RAS, RET and RET/PTC gene mutations in easily obtainable FNA samples, in the attempt to improve the efficacy of the FNA diagnosis of thyroid nodules and thus patient management. In this new procedure, PCR and sequencing analysis are used to detect point mutations, and, in parallel, RT-PCR is used to detect the chimeric RET/PTC1 and RET/PTC3 transcripts in RNA extracted from FNA.
甲状腺癌最常见的初始表现是出现结节。超过20%的普通人群可触及甲状腺结节，而基于超声识别，这一比例升至70%。在95%的病例中，结节仅仅是增生性或良性病变。甲状腺结节最可靠的诊断测试是细针穿刺抽吸活检（FNA），但恶性和良性滤泡性肿瘤的细胞学鉴别仍然困难。目前，细胞学分析几乎常规地与分子遗传学相结合，以使病理学家能够做出更客观的诊断。在本研究中，我们使用一种新的简化程序进行分子分析，该程序涉及在易于获取的FNA样本中检测一组BRAF、RAS、RET和RET/PTC基因突变，试图提高FNA诊断甲状腺结节的效能，从而改善患者管理。在这个新程序中，PCR和测序分析用于检测点突变，同时，RT-PCR用于检测从FNA提取的RNA中的嵌合RET/PTC1和RET/PTC3转录本。
