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RecruitingObservational

Genetic and Molecular Basis of Pediatric Liver Cancer

NCT ID: NCT03959800Sponsor: University of PittsburghLast updated: 2025-09-12

Summary

The purpose of this retrospective and prospective project is to understand the molecular and genetic basis of liver cancer of childhood. Understanding the molecular and genetic bases of liver cancers can offer a better classification based on tumor biology, mechanisms and predisposition.

Detailed description

Pediatric liver cancers are rare, affecting at times no more than 1 in one million population. Understanding the molecular basis of these cancers is important in order to develop more accurate diagnoses and more effective treatments. Current classifications of these cancers are based on how these cancers look on diagnostic studies such as radiologic imaging or under the microscope. Such a classification system does not explain why a particular cancer has a different outcome from what is considered "usual" for that particular cancer. Nor does such a classification system explain why two different classes of cancers behave the same way. Understanding the genetic bases of liver cancers can offer a better classification based on tumor biology, mechanisms and predisposition. To achieve these goals, large numbers of such cancer patients or affected tissue must be collected. This is not possible in any single institution, or any single country. The current project will collect biological samples such as residual tumor tissue, saliva, or blood from affected patients and their biological parents and families, along with clinical information about the cancer. These biological samples will be used to study the genes and how these genes work in tumor tissue and in non-tumor tissue. The results of this study will permit childhood liver cancers to be categorized on the basis of common defects in genes and their function.

Outcome measures

Primary

  • Gene sequencing

    DNA sequence variants

    Time frame: Recurrence free survival at 2 years

  • Gene expression analysis

    Differentially expressed genes

    Time frame: Recurrence free survival at 2 years

  • Status of genome-wide chromatin accessibility

    chromatin accessibility

    Time frame: Duration of active chemotherapy to two years after surgical treatment

  • Epigenetic change

    Differential methylation

    Time frame: Duration of active chemotherapy to two years after surgical treatment

  • Tumor infiltrating cells which express immune checkpoints

    differentially enriched immune cells

    Time frame: Duration of active chemotherapy to two years after surgical treatment

Secondary

  • Response to chemotherapy

    Time frame: Duration of active chemotherapy to two years after surgical treatment

  • Response to chemotherapy

    Time frame: Duration of active chemotherapy to two years after surgical treatment

Eligibility criteria

Sex: AllAge: 0 Years to 99 YearsHealthy volunteers: No
Inclusion Criteria: * Prior or current treatment for a childhood liver tumor, malignant or benign, at age \<21 years. * Biological parents and siblings of eligible children. Exclusion Criteria: * No prior or current treatment for a childhood liver tumor. * Non-biological parents, legal guardians, or non-biological siblings of eligible children.

Study locations (1)

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224

Recruiting
Morgan L Paul, BSN · Contact
Daniel Pieratt, MPA · Contact
Rakesh Sindhi, MD · Principal Investigator