Editorial: Case reports in tumor genomics and ctDNA in precision medicine

Editorial on the Research Topic
Case reports in tumor genomics and ctDNA in precision medicine

The study of tumor genomics and circulating tumor DNA (ctDNA) has opened new avenues in cancer research, diagnosis, and treatment. When analyzing tumor samples or ctDNA from patients, researchers often come across genetic variations that are classified as variants of unknown significance (VUS). These variants pose a significant challenge as their clinical implications and impact on patient care remain uncertain. Patients with tumor genomics or ctDNA and VUS are individuals whose genetic profiles display specific genetic alterations that have not been definitively classified as pathognomonic, i.e., there is rare or insufficient evidence. These variants may include single-nucleotide changes, insertions, deletions, or other complex genetic rearrangements. Understanding the clinical significance of these variants is crucial for determining appropriate treatment strategies, as certain variants may impact disease prognosis, therapy response, and hereditary cancer risk assessment.

The collection of works for this Research Topic includes four case reports articles on tumor genomics or ctDNA in precision medicine, covering different types of variants on different cancer histologies. Xiong and Xia reported one case with ALK-positive mutation lung adenocarcinoma in which the patient achieved a prolonged progression-free survival after undergoing precise pleural effusion NGS and receiving combined bevacizumab treatment following multiple-line ALK-TKI resistance. Chang et al. identified a novel missense mutation in SRRM2 through whole exome sequencing and Sanger sequencing in a patient who exhibited similar characteristics of previously reported cases of SRRM2-associated neurodevelopmental disorders, which expanded the spectrum of known mutations in SRRM2. Jin et al. discussed a rare case of an intracranial tumor with CIC-NUTM1 fusion and provided a literature review for such cases. Finally, Troullioud Lucas et al. reported a first case of Wilms tumor in an individual with Dias-Logan syndrome, in which a de novo likely pathogenic germline variant of BCL11A was detected.

The case reports in this Research Topic catalog these variants and their potential impact on patient treatment. It will benefit clinicians to optimize patient care and facilitate precision oncology approaches that target specific genetic alterations for improved outcomes in cancer patients. In conclusion, we thank all authors who contributed to the development of the articles and the reviewers for their valuable comments. We also encourage continued reporting of VUS that have clinical impact as these case reports contribute to the ultimate patient care.

Author contributions

LC: Writing – review & editing, Methodology, Writing – original draft, Supervision, Conceptualization, Data curation, Investigation. AC: Data curation, Methodology, Conceptualization, Investigation, Supervision, Writing – review & editing, Writing – original draft.

Conflict of interest

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

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