基于甲状腺髓样癌分子病理机制的基因诊断研究进展

Research progress of gene diagnosis based on molecular pathogenesis of medullary thyroid carcinoma

甲状腺髓样癌(medullary thyroid carcinoma,MTC)是一种罕见的恶性神经内分泌肿瘤,具有强侵袭性和较差的预后性。由于传统的影像学和病理学检查的局限性,MTC患者的确诊通常已处于晚期,因此亟待开发准确灵敏的MTC早期诊断技术来协助临床治疗。近年来,基于MTC分子病理机制的基因诊断技术已经引起了人们广泛的关注,尤其是多种微小RNA(microRNA,miRNA)在MTC中的差异性表达和基因调节作用,使得其具有潜在的早期诊断、精准预后和基因治疗等重大意义。

Medullary thyroid carcinoma(MTC) is a kind of rarely malignant neuroendocrine tumor, which has strong invasiveness and poor prognosis in clinics. MTC is oft en at an advanced stage in unsuspected patients owing to the inhere nt limitations of conventional techniques in medical imaging and pathological diagnosis. Therefore, the accurate and sensitive approaches are highly desirable for the early diagnosis and effective therapy of MTC. Recently, the genetic diagnosis technologies have att racted much att ention based on the molecular pathogenesis of MTC, especially for the multiple microRNA(miRNA) with aberrant expression and postt ranscriptional regulation in tumor, providing the great potential for early diagnosis, precise prognosis and effective gene therapeutics.