Introduction/Background*Cervical adenocarcinoma accounts for 20-25% of all uterine cervical cancers with 90% of cases being associated with HPV. Of the remaining, non-HPV associated adenocarcinomas, the most common subtype is the gastric-type (GAS). GAS portends a poorer prognosis irrespective of tumor stage. We report the genomic study of a stage FIGO IVB GAS.
Methodology A 52 years old patient was admitted for atypical glandular cells (AGC) on the cervical smear. Pelvic MRI described a mass infiltrating the proximal third of the vagina, the cervix and the isthmus of the uterus and suggested para-aortic lymphadenopathies. The PET-CT confirmed the nodal involvement and a right iliac bone lesion. Both cervical and bone biopsies were positive for a p53 positive, p16, HER2 and PD-L1 (SP263 clone) negative, GAS. In the absence of standard of care treatment we performed a 52-gene next generation sequencing (NGS) of the cervical biopsies, containing 30% tumor cells
Result(s)*NGS detected the following pathogenic mutations: TP53 exon 8 (p.Arg280Thr, variant allele frequency (VAF) 18%), ERBB2 exon 20 (p.Val777Leu, VAF 14%), KRAS exons 2 (p.Gly12Ser, VAF 4%) and 4 (p.Ala146Val, VAF 5%).
Conclusion*The most frequently mutations reported in GAS are TP53, STK11, and CDKN2A. The presence of a generally, mutually exclusive, ERBB2 and KRAS in our patient is a rare constellation potentially suggestive of multiple subclones. In the absence of a specific treatment guideline for GAS we initiated a cisplatin, paclitaxel and bevacizumab treatment combination. Based on the NGS results, in case of treatment failure, a MAPK targeted treatment by a MEK inhibitor could be considered.
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