14 June 2022: Articles
Variant in the Blood of a Patient with Gastric Cancer Undergoing Tumor Profiling Tests Diagnosed as Clonal Hematopoiesis
Challenging differential diagnosis
Miki Kawai A , Yuka Iijima-Yamashita C , Iku Taguchi B , Masato Kataoka A , Masashi Sanada C , Yoshiko Murakami B , Chiyoe Kitagawa B , Hiroyoshi Hattori A*DOI: 10.12659/AJCR.936455
Am J Case Rep 2022; 23:e936455
Table 1. The MAF values are provided for each variant. The TP53: c.559+2T>G variant was present in the tumor and paired blood samples. The remaining variants were not present in the paired blood.
| cDNA | Protein | MAF tumor (total reads) | MAF blood (total reads) | |
|---|---|---|---|---|
| c.938A>C | p.(Lys313Thr) | 5.2% (122/2338) | – | |
| c.248A>G | p.(His83Arg) | 40.7% (767/1884) | – | |
| c.5954G>A | p.(Arg1985His) | 11.2% (35/313) | – | |
| c.578A>G | p.(His193Arg) | 52.1% (613/1177) | – | |
| c.559+2T>G | – | 9% (168/1865) | 29.1% (58/199) | |
| * ALK transcript NM_004304.5; ** CDKN2A transcript NM_000077.5; *** CREBBP transcript NM_004380.3; **** TP53 transcript NM_000546.5. MAF – minor allele frequency. | ||||