Luzón-Toro Berta, Villalba-Benito Leticia, Fernández Raquel María, Torroglosa Ana, Antiñolo Guillermo, Borrego Salud
Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC, University of Seville, Seville, Spain.
Centre for Biomedical Network Research on Rare Diseases CIBERER, Seville, Spain.
Orphanet J Rare Dis. 2021 Jan 6;16(1):4. doi: 10.1186/s13023-020-01665-5.
The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2-5% of all thyroid cancer) derived from the parafollicular C-cells which secrete calcitonin. About 75% of all medullary thyroid cancers are believed to be sporadic medullary thyroid cancer (sMTC), whereas the remaining 25% correspond to inherited cancer syndromes known as Multiple Endocrine Neoplasia type 2 (MEN2). MEN2 syndrome, with autosomal dominant inheritance is caused by germline gain of function mutations in RET proto-oncogene. To date no lncRNA has been associated to MEN2 syndrome and only two articles have been published relating long non-coding RNA (lncRNA) to MTC: the first one linked MALAT1 with sMTC and, in the other, our group determined some new lncRNAs in a small group of sMTC cases in fresh tissue (RMST, FTX, IPW, PRNCR1, ADAMTS9-AS2 and RMRP). The aim of the current study is to validate such novel lncRNAs previously described by our group by using a larger cohort of patients, in order to discern their potential role in the disease. Here we have tested three up-regulated (RMST, FTX, IPW) and one down-regulated (RMRP) lncRNAs in our samples (formalin fixed paraffin embedded tissues from twenty-one MEN2 and ten sMTC patients) by RT-qPCR analysis. The preliminary results reinforce the potential role of RMST, FTX, IPW and RMRP in the pathogenesis of MTC.
长链非编码RNA（lncRNAs）在癌症中的相关作用目前越来越受到关注。甲状腺髓样癌（MTC）是一种罕见的神经内分泌肿瘤（占所有甲状腺癌的2 - 5%），起源于分泌降钙素的滤泡旁C细胞。据信，所有甲状腺髓样癌中约75%为散发性甲状腺髓样癌（sMTC），其余25%对应于遗传性癌症综合征，即2型多发性内分泌腺瘤病（MEN2）。MEN2综合征为常染色体显性遗传，由RET原癌基因的种系功能获得性突变引起。迄今为止，尚无lncRNA与MEN2综合征相关联，仅有两篇文章发表了关于长链非编码RNA（lncRNA）与MTC的研究：第一篇将MALAT1与sMTC联系起来，另一篇中我们的研究小组在一小部分新鲜组织的sMTC病例中确定了一些新的lncRNAs（RMST、FTX、IPW、PRNCR1、ADAMTS9 - AS2和RMRP）。本研究的目的是通过使用更大的患者队列来验证我们小组先前描述的这些新型lncRNAs，以了解它们在该疾病中的潜在作用。在这里，我们通过RT - qPCR分析检测了我们样本（来自21例MEN2患者和10例sMTC患者的福尔马林固定石蜡包埋组织）中三个上调的lncRNAs（RMST、FTX、IPW）和一个下调的lncRNA（RMRP）。初步结果强化了RMST、FTX、IPW和RMRP在MTC发病机制中的潜在作用。
