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Tumor Mutational Burden as a Potential Biomarker for Immunotherapy in Pancreatic Cancer: Systematic Review and Still-Open Questions

 Rita T Lawlor  ;  Paola Mattiolo  ;  Andrea Mafficini  ;  Seung-Mo Hong  ;  Maria L Piredda  ;  Sergio V Taormina  ;  Giuseppe Malleo  ;  Giovanni Marchegiani  ;  Antonio Pea  ;  Roberto Salvia  ;  Valentyna Kryklyva  ;  Jae Il Shin  ;  Lodewijk A Brosens  ;  Michele Milella  ;  Aldo Scarpa  ;  Claudio Luchini 
 CANCERS, Vol.13(13) : 3119, 2021-07 
Journal Title
Issue Date
PD-1 ; PD-L1 ; TMB ; TML ; immunotherapy ; pancreatic cancer ; tumor mutation burden
Tumor mutational burden (TMB) is a numeric index that expresses the number of mutations per megabase (muts/Mb) harbored by tumor cells in a neoplasm. TMB can be determined using different approaches based on next-generation sequencing. In the case of high values, it indicates a potential response to immunotherapy. In this systematic review, we assessed the potential predictive role of high-TMB in pancreatic ductal adenocarcinoma (PDAC), as well as the histo-molecular features of high-TMB PDAC. High-TMB appeared as a rare but not-negligible molecular feature in PDAC, being present in about 1.1% of cases. This genetic condition was closely associated with mucinous/colloid and medullary histology (p < 0.01). PDAC with high-TMB frequently harbored other actionable alterations, with microsatellite instability/defective mismatch repair as the most common. Immunotherapy has shown promising results in high-TMB PDAC, but the sample size of high-TMB PDAC treated so far is quite small. This study highlights interesting peculiarities of PDAC harboring high-TMB and may represent a reliable starting point for the assessment of TMB in the clinical management of patients affected by pancreatic cancer.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Jae Il(신재일) ORCID logo https://orcid.org/0000-0003-2326-1820
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