^
Association details:
| Biomarker: | MSH6 mutation + MLH1 mutation + MSI-H |
|---|---|
| Cancer: | Squamous Cell Skin Cancer |
| Drug: | Keytruda (pembrolizumab) (PD1 inhibitor) |
| Direction: | Sensitive |
Evidence:
Source:
Title:
Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation
Published date:
11/16/2020
Excerpt:
A 49-year male presented with an enlarging groin skin lesion that was biopsed and demonstrated cutaneous squamous cell carcinoma for which he underwent a surgical resection. The patient experienced later a recurrence of cutaneous squamous cell carcinoma around the resected margins. Next generation sequencing of tumor tissue revealed mutations in MSH6 and MLH1, in addition to high microsatellite instability. The patient underwent pembrolizumab treatment with complete resolution of the cutaneous lesion in the groin...
DOI:
10.1186/s13053-020-00155-w
