Article Text

Download PDFPDF

213 Genomic alteration of a metastatic gastric-type cervical adenocarcinoma: hints and personalized treatment options
Free
  1. A Sarivalasis1,
  2. B Bisig2,
  3. D Hastir3,
  4. K Lefort3 and
  5. A Liapi1
  1. 1Lausanne university hospital, Medical Oncology, Lausanne, Switzerland
  2. 2Lausanne university hospital, Clinical Pathology, Lausanne, Switzerland
  3. 3Lausanne, Clinical Pathology, Lausanne, Switzerland

Abstract

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.

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.