From the blog

High Resolution Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome

Published: July 17, 2020

Primary Outcome Measures

  1. Prospectively gather information related to the use of high-resolution computed tomographic imaging (HRCT) including photon counting CT (PCCT) scans, together with minimally invasive surveillance for early detection of mesotheliomas in pts with … [ Time Frame: annual or bi-annual followup, 5 years interim analysis ]
    Documentation of the counts, incidence, and frequencies of cancers from high-resolution computed tomographic imaging and minimally invasive surveillance results will be analyzed for statistical analysis for the early detection of mesotheliomas in patients with BAP1 TPDS.

Secondary Outcome Measures

  1. To characterize the epigenetic features of mesotheliomas associated with germline mutations in BAP1 [ Time Frame: at clinical visits, annual or biannual follow-up ]
Characterization of the epigenetic features of mesotheliomas associated with germline mutations in BAP1.

Inclusion Criteria

Inclusion Criteria for Genetic Testing

  • Eligible individuals include:
    • Individuals with a history of any malignancy with known or suspected germline mutations involving BAP1; OR
    • First- or second-degree relatives of patients (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS).
  • Age greater than or equal to 30 years.
  • All participants must understand and be willing to sign a written informed consent document.
  • Meet the eligibility criteria and are willing to co-enroll on Dr. Elizabeth Jones protocol, 19CC0070: Translational Development of Photon-Counting CT Imaging.

Inclusion Criteria for Surveillance

  • Eligible individuals include those who completed step 1 genetic testing and the following:
    • Individuals who completed genetic testing with study-confirmed BAP1 mutation; OR
    • Individuals with strong family history of cancer, but who have no germline mutation detected by focused NGS, are eligible for surveillance per PI discretion. These individuals may be further evaluated at some point during surveillance by more comprehensive NGS of germline DNA.
  • Completed co-enrollment on protocol 19CC0070, Translational Development of Photon-Counting CT Imaging and on protocol 06C0014, Prospective Evaluation of Genetic and Epigenetic Alterations in Patients with Thoracic Malignancies.
Contact Us
Have you received a diagnosis? *