皮肤黑素瘤的分子检测和靶向治疗

Molecular Detection and Targeted Therapy of Melanoma

黑素瘤的诊断和治疗是重要的临床课题。黑素瘤的组织学形态变异很多,与某些色素细胞痣之间存在中间型的组织形态学交叉,有时病理诊断相当困难。分子病理学的进展为皮肤黑素瘤的确诊提供了新的方法,同时也为黑素瘤的临床治疗提供了有价值的依据。BRAF,KIT,NRAS,HRAS等基因参与黑素瘤的发生和进展的MAPK通路和Akt/PI3K通路。DNA测序、外显子组测序、FISH技术、免疫组织化学技术可以检测黑素瘤相关的分子变化。针对黑素瘤发生分子通路的靶向治疗将使患者受益。

The diagnosis and treatment of melanoma is an important clinical problem. There are many histology varia- tions of melanoma and histomorphologic intermediate type between chromatophore nevus and melanomas. Sometimes, pathological diagnosis is very difficult. Progress in molecular pathology provides a new method for the diagnosis of cutaneous melanoma, but also provides a valuable basis for the clinical treat- ment of melanoma. The occurrence and progress of melanoma involved by BRAF, KIT, NRAS, HRAS and other genes in MAPK and Akt/PI3K pathways. DNA sequencing, exome sequencing technology, FISH, im- munohistoehemistry technique can detect molecular changes of melanoma. Targeted therapy for molecular pathway of melanoma occurring will benefit patients.