Models of parent-of-origin tumorigenesis in hereditary paraganglioma

作者：Hoekstra Attje S; Devilee Peter; Bayley Jean Pierre^*

来源：Seminars in Cell & Developmental Biology, 2015, 43: 117-124.

DOI：10.1016/j.semcdb.2015.05.011

• Paraganglioma
• Pheochromocytoma
• SDHAF2
• SDHD
• MAX

Paraganglioma and pheochromocytoma are neuroendocrine tumors that originate from either the sympathetic or the parasympathetic branches of the autonomic nervous system. Although 14 different genes have been linked to paraganglioma/pheochromocytoma, a subgroup of these genes is associated with hereditary paraganglioma pheochromocytoma, the genes related to mitochondrial succinate dehydrogenase (SDH) including SDHA, SDHB, SDHC, SDHD and the assembly factor SDHAF2. Unlike mutations in other SDH subunit genes, mutations in SDHD and SDHAF2 show a remarkable parent-of-origin dependent tumorigenesis in which tumor formation almost exclusively occurs following paternal transmission of the mutation. To date, three different models have sought to explain the striking inheritance pattern seen in SDHD and SDHAF2-linked families. Despite the fact that the models suffer to varying degrees from a lack of experimental verification, all three models have made some attempt to incorporate current data and understanding of this phenomenon. In this review, we discuss our present understanding of this phenomenon and describe the three models that seek to explain the inheritance pattern in SDHD and SDHAF2-linked families.

• 出版日期2015-7