biostudies-literatureEroglu ZNCI NIH HHSNIGMS NIH HHS347-350https://www.ebi.ac.uk/biostudies/studies/S-EPMC5773412biostudies-literatureUnknown553(7688)Desmoplastic melanoma is a rare subtype of melanoma characterized by dense fibrous stroma, resistance to chemotherapy and a lack of actionable driver mutations, and is highly associated with ultraviolet light-induced DNA damage. We analysed sixty patients with advanced desmoplastic melanoma who had been treated with antibodies to block programmed cell death 1 (PD-1) or PD-1 ligand (PD-L1). Objective tumour responses were observed in forty-two of the sixty patients (70%; 95% confidence interval 57-81%), including nineteen patients (32%) with a complete response. Whole-exome sequencing revealed a high mutational load and frequent NF1 mutations (fourteen out of seventeen cases) in these tumours. Immunohistochemistry analysis from nineteen desmoplastic melanomas and thirteen non-desmoplastic mNatureHigh response rate to PD-1 blockade in desmoplastic melanomas.PMC5773412T32 GM008042P30 CA008748R35 CA197633P01 CA168585P50 CA168536P30 CA076292Ribas AMunhoz RKim DWHwu WJAlgazi AEroglu ZWang XChmielowski BJoseph RWHu-Lieskovan SWei CGherardini PFCochran AJZaretsky JMRapisuwon SBen KongJohnson DBCarlino MSLong GVShintaku IPPostow MASosman JAScolyer RALiniker EMessina JfalseHigh response rate to PD-1 blockade in desmoplastic melanomas.Desmoplastic melanoma is a rare subtype of melanoma characterized by dense fibrous stroma, resistance to chemotherapy and a lack of actionable driver mutations, and is highly associated with ultraviolet light-induced DNA damage. We analysed sixty patients with advanced desmoplastic melanoma who had been treated with antibodies to block programmed cell death 1 (PD-1) or PD-1 ligand (PD-L1). Objective tumour responses were observed in forty-two of the sixty patients (70%; 95% confidence interval 57-81%), including nineteen patients (32%) with a complete response. Whole-exome sequencing revealed a high mutational load and frequent NF1 mutations (fourteen out of seventeen cases) in these tumours. Immunohistochemistry analysis from nineteen desmoplastic melanomas and thirteen non-desmoplastic m2018-01-01T00:00:00Z2018 Jan2025-04-04T20:43:40.318Z2019-03-26T23:45:23ZS-EPMC57734122932047410.1038/nature25187