ArticleCold Spring Harbor molecular case studies2019
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.
Article in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Circulating Tumor DNA Analysis in Adrenocortical Carcinoma: A Retrospective Cohort Study.Endocrine pathology · 2026Article
- Liquid Biopsy Biomarkers for Predicting and Monitoring Immunotherapy Response in Lung Cancer.Cancers · 2026Review
- Molecular genotyping of adrenocortical carcinoma: a systematic analysis of published literature 2019-2021.Current opinion in oncology · 2022Review
- Microsatellite instability: a review of what the oncologist should know.Cancer cell international · 2020Review
- Development and validation of a targeted gene sequencing panel for application to disparate cancers.Scientific reports · 2019Article
- New strategies for applying targeted therapies to adrenocortical carcinoma.Current opinion in endocrine and metabolic research · 2019Article
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Authors and funding
22 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adrenocortical carcinoma is a rare malignancy with a poor prognosis and few treatment options. Molecular characterization of this cancer remains limited. We present a case of an adrenocortical carcinoma (ACC) in a 37-yr-old female, with dual lung metastases identified 1 yr following commencement of adjuvant mitotane therapy. As standard therapeutic regimens are often unsuccessful in ACC, we undertook a comprehensive genomic study into this case to identify treatment options and monitor disease progress. We performed targeted and whole-genome sequencing of germline, primary tumor, and both metastatic tumors from this patient and monitored recurrence over 2 years using liquid biopsy for ctDNA and steroid hormone measurements. Sequencing revealed the primary and metastatic tumors were hyperhaploid, with extensive loss of heterozygosity but few structural rearrangements. Loss-of-function mutations were identified in
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