09 July 2020>: Articles
Metastatic Plasmacytoid Bladder Cancer Harboring a Mutation and Producing High Levels of CA 19-9. A Case Report and Literature Review
Rare disease
Mohammad Telfah A* , Rahul A. Parikh A , Da Zhang E , Anup Kasi EDOI: 10.12659/AJCR.923130
Am J Case Rep 2020; 21:e923130
Table 1. Molecular profile of the tumor with targeted exome next-generation sequencing, using illumina NextSeq platform.
Gene | Amino acid change | Allele frequency | Type |
---|---|---|---|
p.R335 | 43.0% | Pathogenic | |
p.S215G | 47.0% | Pathogenic | |
p.Q217 | 41.0% | Pathogenic | |
p.P320fs75 | 29.0% | Likely pathogenic | |
p.A3F | 17.0% | Uncertain significance | |
p.G424A | 5.24% | Uncertain significance | |
p.G141R | 51.0% | Uncertain significance | |
p.Q324E | 24.0% | Uncertain significance | |
p.P574T | 50.0% | Uncertain significance | |
p.L86F | 27.0% | Uncertain significance |