Molecular Characterisation of Appendiceal Cancer

Characterisation of Appendiceal Cancer by Genomic and Transcriptomic Analysis and Correlation With Clinical Outcomes

Patients ≥ 18 years old who have been diagnosed with appendiceal cancer with peritoneal metastases, have had cytoreductive surgery, have availability of archival tumour tissue and have consented to our institutional biobank program or have a waiver of consent for deceased patients who have not had the opportunity to provide biobank consent (requested at the time of ethics review). Descriptive analysis of the proportion of genetic mutations identified in appendiceal cancers. This is given by the percentage of pathogenic mutations in the peritoneal metastasis compared to the primary tumour.

Study Overview

• Status: Not yet recruiting
• Conditions: Appendiceal Cancer
• Intervention / Treatment: Other: Retrospective tissue sample analysis

Detailed Description

Appendiceal cancer is a rare and understudied cancer that frequently leads to metastatic disease with production of copious gelatinous collections in the abdomen, causing severe illness and poor survival. The only definitive treatment available is a complex and aggressive surgical procedure involving removal of organs and the internal lining of the abdomen. There is an urgent need to define clinical predictors of survival, the role of chemotherapy and to develop new treatments.

The genetics of appendiceal cancer has been reported in small cohorts of patients but there has been limited research on how mutations affect treatments or survival. There is no information on how and why primary appendiceal cancers often spread just to the lining of the abdomen. Understanding how genetic mutations evolve in the tumours are important for working out treatments to prevent the spread of cancer. Current high throughput laboratory techniques for analysing the genetic makeup of appendiceal cancer has the power to identify mutation patterns than might predict for treatments and survival outcomes.

This study proposes completing tumour genetic studies on archived cancer tissue removed routinely from patients who previously have had surgery for their appendiceal tumour. The results of genetic tests can then be compared to clinical characteristics of the patients such as survival time and treatments received. Genes in primary appendix tumours can be compared to those in tumours that have spread into the lining of the abdomen to describe what changes if any occur during the spreading process.

This study will help make progress towards better and personalised treatment options, identifying predictors of treatment success and long-term survival. Improved treatments and better selection of patients may ultimately improve quality of life and help patients live longer.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Ashley Osborne, Mr; Phone Number: 0161 446 3000; Email: ashley.osborne2@nhs.net

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients who have been diagnosed with appendiceal cancer with peritoneal metastases

Description

Inclusion Criteria:

Participants are eligible to be included in the study only if all of the following criteria apply:

1. Patients ≥ 18 years old who have been diagnosed with appendiceal cancer with peritoneal metastases,
2. have had cytoreductive surgery
3. have availability of archival tumour tissue

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
All participants; Appendiceal Cancer Patients	Other: Retrospective tissue sample analysis; Acquisition of archival Formalin Fixed Paraffin Embedded (FFPE) human tissue from appendix cancer primary tumour and peritoneal metastases, which are stored in NHS pathology - taken from standard care biopsies.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Characterise the genes of appendiceal cancer.	Descriptive analysis of the proportion of genetic mutations identified in appendiceal cancers. This is given by the percentage of pathogenic mutations in the peritoneal metastasis compared to the primary tumour.	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Descriptive analysis in proportions	The descriptive difference in proportion of genetic mutations identified in primary appendiceal tumours compared to mutations in peritoneal metastases. Association between molecular subtypes and categorical variables were measured by Fisher's exact or X2 tests. Associations with continuous variables will be evaluated by Kruskal-Wallis tests or ANOVA. Kaplan-Meier methods will calculate survival outcomes.	2 years

Collaborators and Investigators

• Sponsor: The Christie NHS Foundation Trust
• Collaborators: University of Manchester
• Investigators: Study Director: Madeliene Strach, Dr, The Christie NHS Foundation Trust; Principal Investigator: Omer Aziz, Mr, The Christie NHS Foundation Trust

Study record dates

Study Major Dates

• Study Start (Estimated): February 4, 2024
• Primary Completion (Estimated): July 3, 2025
• Study Completion (Estimated): July 3, 2025

Study Registration Dates

• First Submitted: May 3, 2022
• First Submitted That Met QC Criteria: May 3, 2022
• First Posted (Actual): May 6, 2022

Study Record Updates

• Last Update Posted (Actual): September 25, 2023
• Last Update Submitted That Met QC Criteria: September 22, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Neoplasms; Neoplasms by Site; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Intestinal Diseases; Intestinal Neoplasms; Cecal Diseases; Cecal Neoplasms; Appendiceal Neoplasms
• Other Study ID Numbers: CFTSp215

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No