Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity

被引：393

作者：

Dahia, Patricia L. M. ^{[1
]}

机构：

[1] Univ Texas Hlth Sci Ctr San Antonio, Greehey Children Canc Res Inst, Canc Therapy & Res Ctr, Dept Med,Div Hematol & Med Oncol, San Antonio, TX 78229 USA

来源：

NATURE REVIEWS CANCER | 2014年 / 14卷 / 02期

关键词：

MULTIPLE ENDOCRINE NEOPLASIA; MEDULLARY-THYROID CANCER; HYPOXIA-INDUCIBLE FACTOR-1; MITOCHONDRIAL COMPLEX II; RENAL-CELL CARCINOMA; GERM-LINE MUTATIONS; SUCCINATE-DEHYDROGENASE; HIF-ALPHA; SOMATIC MUTATIONS; SPORADIC PHEOCHROMOCYTOMA;

D O I：

10.1038/nrc3648

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The neuroendocrine tumours pheochromocytomas and paragangliomas carry the highest degree of heritability in human neoplasms, enabling genetic alterations to be traced to clinical phenotypes through their transmission in families. Mutations in more than a dozen distinct susceptibility genes have implicated multiple pathways in these tumours, offering insights into kinase downstream signalling interactions and hypoxia regulation, and uncovering links between metabolism, epigenetic remodelling and cell growth. These advances extend to co-occurring tumours, including renal, thyroid and gastrointestinal malignancies. Hereditary pheochromocytomas and paragangliomas are powerful models for recognizing cancer driver events, which can be harnessed for diagnostic purposes and for guiding the future development of targeted therapies.

引用

页码：108 / 119

页数：12

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