کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6113450 | 1590717 | 2016 | 19 صفحه PDF | دانلود رایگان |
- Genetic mutations account for the genesis of approximately 60% of PCC/PGLs.
- More than 25 key genes are known to be mutated in PCC/PGLs.
- Majority of the mutations in PCC/PGLs affect the functions in a few biological pathways.
- Genetic mutations, pathological and biochemical markers are prognostic markers.
- Immunohistochemistry and gene sequencing will help the clinical management of patients with PCC/PGL.
Genetic mutations of phaeochromocytoma (PCC) and paraganglioma (PGL) are mainly classified into two major clusters. Cluster 1 mutations are involved with the pseudo hypoxic pathway and comprised of PHD2, VHL, SDHx, IDH, HIF2A, MDH2 and FH mutated PCC/PGL. Cluster 2 mutations are associated with abnormal activation of kinase signalling pathways and included mutations of RET, NF1, KIF1Bβ, MAX and TMEM127. In addition, VHL, SDHx (cluster 1 genes) and RET, NF1 (cluster 2 genes) germline mutations are involved in the neuronal precursor cell pathway in the pathogeneses of PCC/PGL. Also, GDNF, H-ras, K-ras, GNAS, CDKN2A (p16), p53, BAP1, BRCA1&2, ATRX and KMT2D mutations have roles in the development of PCC/PGLs. Overall, known genetic mutations account for the pathogenesis of approximately 60% of PCC/PGLs. Genetic mutations, pathological parameters and biochemical markers are used for better prediction of the outcome of patients with this group of tumours. Immunohistochemistry and gene sequencing can ensure a more effective detection, prediction of malignant potential and treatment of PCC/PCLs.
Journal: Critical Reviews in Oncology/Hematology - Volume 100, April 2016, Pages 190-208