TY - JOUR
T1 - Case report
T2 - Microsatellite instability determination is not always black and white in Lynch syndrome diagnosis
AU - Rodriguez, Julieta E.
AU - Vasseur, Damien
AU - Bani, Mohamed Amine
AU - Cabaret, Odile
AU - Cotteret, Sophie
AU - Muleris, Martine
AU - Golbarg, Veronica
AU - Malka, David
AU - Pudlarz, Thomas
AU - Caron, Olivier
AU - Smolenschi, Cristina
N1 - Publisher Copyright:
Copyright © 2024 Rodriguez, Vasseur, Bani, Cabaret, Cotteret, Muleris, Golbarg, Malka, Pudlarz, Caron and Smolenschi.
PY - 2024/1/1
Y1 - 2024/1/1
N2 - Introduction: Microsatellite instability (MSI) is a genetic marker that is useful in the detection and treatment of Lynch syndrome (Sd). Although conventional techniques such as immunohistochemistry (IHC) and polymerase chain reaction (PCR) are the standards for MSI detection, the advent of next-generation sequencing (NGS) has offered new possibilities, especially with circulating DNA. Case report: We present the case of a 26-year-old patient with Lynch Sd and a BRAF-mutated metastatic colon cancer. The discordant MSI results between the conventional methods and NGS posed challenges in making treatment decisions. Subsequent NGS analysis revealed a high MSI status, leading to participation in an immunotherapy trial, with remarkable clinical response. Conclusion: This case emphasizes the importance of comprehensive molecular profiling and strong interdisciplinary collaborations, especially in cases with ambiguous MSI results.
AB - Introduction: Microsatellite instability (MSI) is a genetic marker that is useful in the detection and treatment of Lynch syndrome (Sd). Although conventional techniques such as immunohistochemistry (IHC) and polymerase chain reaction (PCR) are the standards for MSI detection, the advent of next-generation sequencing (NGS) has offered new possibilities, especially with circulating DNA. Case report: We present the case of a 26-year-old patient with Lynch Sd and a BRAF-mutated metastatic colon cancer. The discordant MSI results between the conventional methods and NGS posed challenges in making treatment decisions. Subsequent NGS analysis revealed a high MSI status, leading to participation in an immunotherapy trial, with remarkable clinical response. Conclusion: This case emphasizes the importance of comprehensive molecular profiling and strong interdisciplinary collaborations, especially in cases with ambiguous MSI results.
KW - case report
KW - circulating DNA
KW - colorectal cancer
KW - discordant MSI
KW - next-generation sequencing
UR - http://www.scopus.com/inward/record.url?scp=85197304700&partnerID=8YFLogxK
U2 - 10.3389/fonc.2024.1396869
DO - 10.3389/fonc.2024.1396869
M3 - Article
AN - SCOPUS:85197304700
SN - 2234-943X
VL - 14
JO - Frontiers in Oncology
JF - Frontiers in Oncology
M1 - 1396869
ER -