Abstract
comprehensive molecular characterization of adrenocortical carcinoma (ACC) through next-generation sequencing and bioinformatics analyses is expanding the number of targets with potential prognostic and therapeutic value. We performed a critical review of recent published literature on genotyping of ACC. 423 studies were published between 2019 and 2021. After manual curation we summarized selected evidence in two thematic areas: germline deoxyribonucleic acid (DNA) variations, genomic alterations and prognosis. the evolving genomic landscape of ACC requires target validation in terms of prognostic and predictive value within scientific consortia. Although the existing multiple driver genes are difficult targets in the perspective of precision oncology, alterations in DNA damage repair genes or in promoter hypermethylation could open new venues for repurposing of existing drugs in ACC.
Highlights
Adult adrenocortical carcinoma (ACC) is a rare neoplasm with a worldwide reported incidence of 0.7– 1.0 new cases per million people/year [1]
We describe the results of a systematic analysis of literature published in the years 2019–2021 concerning genotyping of ACC
This study demonstrated that genomic-based prognostic stratification improved clinical prognostic models like the mGRAS score and ENSAT stage and that this analytical result could be obtained from standard formalin-fixed, paraffin-embedded tumor tissue [50]
Summary
Adult adrenocortical carcinoma (ACC) is a rare neoplasm with a worldwide reported incidence of 0.7– 1.0 new cases per million people/year [1]. Because of the rarity of this disease, the expected trends of incidence and mortality are difficult to define and access to this information relies only on collection of data within ACC-specific registries. Prognosis of ACC is variable but more than 60% of patients are diagnosed in stage III and IV with a 5-year survival of
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