Genomic and transcriptomic characterization of the mitochondrial-rich oncocytic phenotype on a thyroid carcinoma background

被引：8

作者：

Cavadas, Bruno ^{[1
,2
]}

Pereira, Joana B. ^{[1
,2
]}

Correia, Marcelo ^{[1
,2
]}

Fernandes, Veronica ^{[1
,2
]}

Eloy, Catarina ^{[2
]}

Sobrinho-Simoes, Manuel ^{[1
,2
,3
,4
]}

Soares, Paula ^{[1
,2
,3
]}

Samuels, David C. ^{[5
]}

Maximo, Valdemar ^{[1
,2
,3
]}

Pereira, Luisa ^{[1
,2
,3
]}

机构：

[1] Univ Porto, Inst Invest & Inovaccao Saude i3S, Porto, Portugal

[2] Univ Porto IPATIMUP, Inst Patol & Imunol Mol, Porto, Portugal

[3] Univ Porto, Fac Med, Dept Patol, Porto, Portugal

[4] Hosp Sao Joao, Dept Patol, Porto, Portugal

[5] Vanderbilt Univ, Med Ctr, Dept Mol Physiol & Biophys, Vanderbilt Genet Inst, Nashville, TN USA

来源：

MITOCHONDRION | 2019年 / 46卷

关键词：

Oncocytic phenotype; Thyroid carcinoma; Mitochondrial genomes; Nuclear genomes; Expression profiles; Autophagy/mitophagy; HURTHLE CELL TUMORS; PURIFYING SELECTION; MUTATION; VARIANTS; MTDNA; PATHOGENICITY; HETEROPLASMY; EXPRESSION; LANDSCAPE; AUTOPHAGY;

D O I：

10.1016/j.mito.2018.04.001

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We conducted the first systematic omits study of the oncocytic phenotype in 488 papillary thyroid carcinomas (PTC) from The Cancer Genome Atlas. Oncocytic phenotype is secondary to PTC, being unrelated to several pathologic scores. The nuclear genome had low impact on this phenotype (except in specific copy number variation), which was mostly driven by the significant accumulation of mitochondrial DNA non-synonymous and frameshift mutations at high heteroplasmy levels. Energy and mitochondrial-related pathways were significantly enriched in oncocytic tumors that also displayed increased levels of expression for genes involved in autophagy and fusion of mitochondria. Our in vitro tests confirmed that autophagy is increased and functional while mitophagy is decreased in these tumors.

引用

页码：123 / 133

页数：11

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