- Retrospective identification of exceptional responders to cancer treatment and molecular profiling of pretreatment archived tissue are feasible.
Why this matters
- Accompanying editorial: “exceptional responders could help to identify novel or known molecular abnormalities that may be predictive of response to agents targeting a relevant biological pathway.”
- The study evaluated the feasibility and potential usefulness of sequencing DNA and RNA from clinical tumor specimens from patients who had experienced unusually profound or durable responses to systemic therapy.
- 117 cases of exceptional responders with analyzable tissue were identified.
- Criteria for exceptional responses:
- Expected complete or partial response (n=37);
- Exceptionally long response (n=54); and
- Both criteria (n=26).
- Funding: National Cancer Institute.
- Combination chemotherapy regimens (n=80);
- Antiangiogenesis agents with or without additional chemotherapy (n=34); and
- Immune checkpoint inhibitors (n=6).
- Potential clinically relevant germline mutations were found in 6 tumors:
- Pathogenic BRCA1/2 mutations were found in patients with breast cancer (n=2), NSCLC (n=1), and rectal cancer (n=1).
- 1 patient with breast cancer had a known pathogenic BRCA1 germline mutation and another had a likely germline mutation in CHEK2.
- 1 patient with a poorly differentiated lung cancer and history of breast cancer had a PALB2 mutation.