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Analysis of microsatellite instability using Promega panel in dermatofibrosarcoma protuberans
Saki Maeda-Otsuka1, Myangat Tselmeg Mijiddorj1, Ikko Kajihara1
1Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Abstract:
Dermatofibrosarcoma protuberans (DFSP) is a rare neoplasm derived from fibroblasts. Although the frequency of microsatellite instability (MSI) in skin cancer is reported to be less than 5%, there is only one report of the status of MMR in DFSP. The only analytical report of microsatellite stability in which Promega panel is not used, showed that the frequency of MSI-high, MSI-low and microsatellite stable (MSS) cases was 13.9% (5/36), 16.7% (6/36) and 69.4% (25/36), respectively. Thus, the aim of this study was to evaluate the status of MMR in 36 patients with DFSP diagnosed at Kumamoto University. MSI analysis using the Promega panel showed that all cases were MSS, which indicated the absence of MSI in DFSP. This result indicates that the status of MMR may not be useful for the potential therapeutic application of pembrolizumab and the pathogenesis of DFSP may not involve MSI.
Insights
Dermatofibrosarcoma protuberans (DFSP), a rare skin cancer, shows no microsatellite instability (MSI) in this study. This finding suggests MMR status is not useful for pembrolizumab therapy in DFSP patients.
Area of Science:
- Oncology
- Dermatology
- Cancer Genomics
Background:
- Dermatofibrosarcoma protuberans (DFSP) is a rare skin neoplasm originating from fibroblasts.
- Microsatellite instability (MSI) is infrequent in skin cancers (<5%), with limited data on mismatch repair (MMR) status in DFSP.
- Previous studies reported varying MSI frequencies in DFSP, but without using the standard Promega panel.
Purpose of the Study:
- To evaluate the mismatch repair (MMR) status and microsatellite instability (MSI) in a cohort of 36 Dermatofibrosarcoma protuberans (DFSP) patients.
- To clarify the role of MSI in the pathogenesis of DFSP.
- To assess the potential therapeutic implications of MMR status, particularly concerning pembrolizumab treatment.
Main Methods:
- Analysis of microsatellite stability (MSS) and microsatellite instability (MSI) in 36 DFSP patient samples.
- Utilized the Promega MSI analysis system for standardized assessment.
- Compared findings with previous reports on MSI in DFSP.
Main Results:
- All 36 analyzed cases of Dermatofibrosarcoma protuberans (DFSP) were found to be microsatellite stable (MSS).
- The study demonstrated a complete absence of microsatellite instability (MSI) in the DFSP cohort.
- This contrasts with some prior reports that utilized non-standardized methods.
Conclusions:
- Dermatofibrosarcoma protuberans (DFSP) does not exhibit microsatellite instability (MSI).
- Mismatch repair (MMR) status is unlikely to be a predictive biomarker for pembrolizumab therapy in DFSP.
- The pathogenesis of DFSP does not appear to involve microsatellite instability (MSI).
