Chiu Harold Henrison C, Macalalad-Josue Anna Angelica P, Corpuz Dianne Grace S, Paragas Sahra May O, Pintor Oliver D, Hernandez-Diwa Michele S, Galarion Ma Jowina H, Dela Tonga Angelo D, Maningat Patricia D
Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Philippine General Hospital, University of the Philippines Manila.
Department of Laboratories, Philippine General Hospital, University of the Philippines Manila.
Acta Med Philipp. 2023 Jun 28;57(6):40-45. doi: 10.47895/amp.vi0.4972. eCollection 2023.
Epidemiological studies have shown that Filipinos have a higher prevalence of welldifferentiated thyroid cancer and a higher rate of recurrence. The BRAF V600E mutation has been proposed as a potential prognostic marker in aggressive papillary thyroid cancers. In this study, we determined whether this mutation is a risk factor for tumor recurrence in papillary thyroid cancer among Filipinos.
We conducted an age and sex-matched case-control study of patients with papillary thyroid cancer; we had two groups - with and without tumor recurrence - of 14 patients each, with at least a 5-year follow-up. We extracted the DNA samples from the patients' (paraffin-embedded) tumor biopsy tissue blocks from thyroidectomy specimens, then detected the BRAF V600E mutation using polymerase chain reaction. The McNemar's test for difference of proportions in paired data was used to determine the association of BRAF V600E mutation with recurrence.
The BRAF V600E mutation was found in 57.14% of all cases. We found a prevalence of 64.29% among those with recurrence and 50.00% among those without recurrence, with no significant difference between the two groups (p = 0.688).
Our study showed the BRAF V600E mutation was not associated with recurrence. We encountered several limitations: we had limited data regarding molecular methodologies in the Philippine setting, we had a small sample size, and therefore we could not study other parameters (e.g., tumor characteristics, lymph node metastasis, stage of disease). We hope that this paves the way for future studies and collaborations to establish the role of BRAF V600E in Filipinos with papillary thyroid tumor recurrence.
流行病学研究表明，菲律宾人分化型甲状腺癌的患病率较高且复发率也较高。BRAF V600E突变被认为是侵袭性乳头状甲状腺癌的潜在预后标志物。在本研究中，我们确定该突变是否为菲律宾人乳头状甲状腺癌肿瘤复发的危险因素。
我们对乳头状甲状腺癌患者进行了年龄和性别匹配的病例对照研究；我们有两组，每组14例患者，分别为有肿瘤复发组和无肿瘤复发组，且至少随访5年。我们从患者甲状腺切除标本的（石蜡包埋）肿瘤活检组织块中提取DNA样本，然后使用聚合酶链反应检测BRAF V600E突变。配对数据比例差异的McNemar检验用于确定BRAF V600E突变与复发的关联。
在所有病例中，BRAF V600E突变的发生率为57.14%。我们发现复发患者中的发生率为64.29%，未复发患者中的发生率为50.00%，两组之间无显著差异（p = 0.688）。
我们的研究表明BRAF V600E突变与复发无关。我们遇到了几个局限性：在菲律宾环境下，我们关于分子方法的数据有限，样本量较小，因此我们无法研究其他参数（例如肿瘤特征、淋巴结转移、疾病分期）。我们希望这为未来的研究和合作铺平道路，以确定BRAF V600E在菲律宾乳头状甲状腺肿瘤复发患者中的作用。
