Does the primary site really matter? Profiling mucinous ovarian cancers of uncertain primary origin (MO-CUP) to personalise treatment and inform the design of clinical trials

Gynecol Oncol. 2018 Sep;150(3):527-533. doi: 10.1016/j.ygyno.2018.07.013. Epub 2018 Jul 25.

Abstract

Objective: Advanced stage mucinous ovarian cancers are diagnostically and therapeutically challenging. Histotype specific trials have failed due to low recruitment after excluding non-ovarian primaries. Mucinous ovarian cancers are commonly metastatic from other sites however lack definitive diagnostic markers. We suggest a classification of mucinous ovarian cancers of uncertain primary origin 'MO-CUPs' in clinical trials. This study aims to identify drug targets to guide treatment and future trials.

Methods: We analyzed a large de-identified, multi-platform tumor profiling dataset of MO-CUPs enriched for advanced stage and recurrent cases submitted to Caris Life Sciences. Available data included a 45-gene next-generation sequencing (NGS) panel, gene amplification of HER2 and cMET and 18 immunohistochemical (IHC) markers of drug sensitivity/resistance.

Results: Mucinous tumors from 333 patients were analyzed, including 38 borderline tumors and 295 invasive cancers. The most common mutations in a subset (n = 128) of invasive cancers were KRAS (60%), TP53 (38%), PIK3CA (13%) and PTEN (9%). Borderline tumors had higher rates of BRAF mutations, and PGP and TOP2A overexpression than invasive cases. KRAS mutant invasive cancers had lower expression of thymidylate synthase (p = 0.01) and higher expression of TUBB3 (p = 0.01) than KRAS wildtype tumors.

Conclusions: To our knowledge, this is the largest series profiling mucinous ovarian cancers and almost certainly includes cases of ovarian and non-ovarian origin. Given the difficulty recruiting patients to histotype-specific trials in rare subsets of ovarian cancer, it may be more important to focus on identifying potential treatment targets and to personalise treatment and design clinical trials in MO-CUPS agnostic of primary site to overcome these issues.

Keywords: Biomarkers; Molecular profiling; Mucinous; Ovary.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Mucinous / drug therapy
  • Adenocarcinoma, Mucinous / genetics*
  • Adenocarcinoma, Mucinous / metabolism*
  • Biomarkers, Tumor / genetics
  • Class I Phosphatidylinositol 3-Kinases / genetics
  • Clinical Trials as Topic
  • DNA Mutational Analysis
  • DNA Topoisomerases, Type II / genetics
  • DNA, Neoplasm / analysis*
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Molecular Targeted Therapy
  • Neoplasms, Unknown Primary / drug therapy
  • Neoplasms, Unknown Primary / genetics*
  • Ovarian Neoplasms / drug therapy
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / secondary*
  • PTEN Phosphohydrolase / genetics
  • Poly-ADP-Ribose Binding Proteins / genetics
  • Precision Medicine
  • Proto-Oncogene Proteins B-raf / genetics
  • Proto-Oncogene Proteins c-met
  • Proto-Oncogene Proteins p21(ras) / genetics
  • Receptor, ErbB-2 / genetics
  • Terminology as Topic
  • Thymidylate Synthase
  • Tubulin
  • Tumor Suppressor Protein p53 / genetics
  • Uncertainty

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • KRAS protein, human
  • Poly-ADP-Ribose Binding Proteins
  • TUBB3 protein, human
  • Tubulin
  • Tumor Suppressor Protein p53
  • Thymidylate Synthase
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • Proto-Oncogene Proteins c-met
  • Receptor, ErbB-2
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • PTEN Phosphohydrolase
  • PTEN protein, human
  • Proto-Oncogene Proteins p21(ras)
  • DNA Topoisomerases, Type II
  • TOP2A protein, human