First time users: You will need to check your degree as you created an ACMG account. The system designates educational credits according to your degree. Be sure you are logged in (do you see your name on the top right under the ACMG Genetics Academy logo?). If not, log in before proceeding.

For technical support, please send an email to: education@acmg.net  or call 301-718-9603.

Or click on the "Help"  icon on the left-hand side of your screen for more information.

Support Center Hours: Monday- Friday 9:00 am - 5:00 pm Eastern Time 

ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series

Tuesday, January 25, 2022

11:00 am-12:00 pm ET

www.acmgeducation.net

Course Description

In this session, Drs. Janessa Laskin and Laura Williamson will present a case of a 64-year-old female diagnosed with metastatic lung neuroendocrine carcinoma. She had been treated with chemotherapy and radiation, with some response but subsequent growth in multiple locations. Whole genome and transcriptome analysis of a metastatic chest wall mass was performed as part of the Personalized OncoGenomics Study. Molecular analysis revealed no targetable driver mutations and low tumour mutation burden, but gene expression signatures provided evidence for T cells and macrophages in the tumour sample. The combination of biomarkers made this patient eligible for an immunotherapy trial. An additional case with similar gene expression signatures, a pediatric chordoma patient found to have low tumour mutation burden but high tumour T cell infiltration, subsequently responded to immunotherapy. The use of whole genome and transcriptome profiling to examine the immune microenvironment and biomarkers for immunotherapy response will be reviewed. The design of an immunotherapy trial based on both DNA and RNA molecular markers will be discussed.

The Variant Interpretation for Cancer Consortium Virtual Molecular Tumor Board (VICC VMTB) is conducting a survey on somatic NGS reporting practices.  If you are involved in reporting NGS results, we want to hear from you. You can find the survey here.

Target Audience

All medical and healthcare professionals and researchers interested in understanding cancer genomic testing and somatic and germline variant interpretation methods. This series is presented as a collaboration between ClinGen Somatic and VICC consortia, and ACMG.

Agenda

Presentation followed by Q&A. 

Learning Objectives

At the conclusion of this session, participants should be able to:

1. Describe the genomic methods used to care for this patient
2. Discuss the nature of biomarkers that confer sensitivity to immunotherapy
3. Explain the of role T cell infiltration in the absence of high tumor mutational burden

Faculty: