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Association details:
Evidence:
Evidence Level:
Sensitive: C4 – Case Studies
Title:

NF1 germline mutation in a Chinese family with colon cancer

Published date:
08/20/2020
Excerpt:
A 63-year-old female patient developed a transverse colon mass and a polyp of the sigmoid colon...Pathological examination revealed a transverse colon adenocarcinoma with sigmoid colon tubulovillous adenomas…the patient received three cycles of treatment with bevacizumab (510 mg, ivgtt, day 1) plus capecitabine (1750 mg, bid, days 1–14)/oxaliplatin (220 mg, ivgtt, day 1) (CapOx)...indicated stable disease (SD) of the primary lesion in the colon and partial response (PR) of metastasis in the right abdominal cavity....A germline mutation of NF1 L581Ffs*6 (VAF [variant allele frequency]: 24%) and somatic mutations of KRAS A146P (VAF: 10%), NRAS Q61K (VAF: 12%), TP53 R175H (VAF: 13%), and CD274 (PD-L1) T290M (VAF: 11%) were detected.
Secondary therapy:
CAPOX
DOI:
10.1177/0300060519896435