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.

ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series

A Case of PATZ1 Fusion Detection by a Whole Transcriptome RNAseq-based Fusion Assay: Opportunities and Challenges in Fusion Interpretation

Tuesday, February 28, 2023

11:00am-12:00pm ET

www.acmgeducation.net

Course Description

A subset of pediatric CNS tumor entities, including the recently described PATZ1 fusion positive neuroepithelial tumor, may have a broad morphological spectrum. RNA-seq analysis is one of the routine molecular methods for fusion detection. Compared to targeted RNA-seq assays, the whole transcriptome RNA-seq allows for enhanced sensitivity for detection of atypical, rare, and novel fusion events that may not be integrated into targeted assay designs. However, challenges of downstream analysis exist. Here, we will present a pediatric male patient with a histology diagnosis of ependymoma that was found to harbor a PATZ1 fusion. Patient case history and pathology-based evaluation of the tissue will be reviewed along with the molecular findings from tumor profiling using chromosomal microarray, targeted DNA and RNA-based somatic panel, total RNA-seq and DNA methylation. Opportunities and challenges in whole transcriptome RNA-fusion variant analysis and interpretation will be discussed.

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, VICC, and ACMG consortia.

Agenda

Presentations followed by live Q&A. 

Learning Objectives

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

1. Recognize a molecularly distinct PATZ1 fusion positive neuroepithelial tumor entity with a broad histological spectrum
2. Discuss opportunities and challenges in clinical interpretation of whole transcriptome RNA-seq analysis for fusion detection

Moderator:

Manuela Benary, PhD

Bioinformatician

Charité – Universitätsmedizin Berlin, Berlin, Germany

Presenters:

Debra Hawes, MD

Dr. Hawes is an Associate Professor of Clinical Pathology at the USC Keck School of Medicine.  She completed her residency in Pathology and fellowship in Neuropathology at the Los Angeles County +University of Southern California (LAC+USC) Medical Center.  Dr. Hawes directs the Neuropathology Core of the USC Alzheimer Disease Research Center and is a full-time neuropathologist at Children’s Hospital Los Angeles (CHLA) and faculty director of Immunohistochemistry at CHLA.  Her research focuses on the immunohistochemical surrogate markers of molecular classification of CNS tumors and biologic markers of disease progression. 

Jianling Ji, MD, MS, FACMG

Dr. Ji is an Assistant Professor of Clinical Pathology, Keck School of Medicine of the University of Southern California, and assistant director of the Clinical Genomics Laboratory in the Center for Personalized Medicine in the Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles. Dr. Ji completed her fellowship training in Clinical Molecular Genetics and Clinical Cytogenetics at the University of California Los Angeles (UCLA) and Cedars Sinai Medical Center. She holds American Board of Medical Genetics and Genomics certifications in both Clinical Molecular Genetics and Clinical Cytogenetics. Dr. Ji’s primary interest is clinical application of cutting-edge technologies in molecular diagnosis of rare genetic disorders, cancer predisposition, and pediatric brain tumors.

Nathan Robinson, MD

After completing his residency and fellowship at Children’s Hospital Los Angeles, Dr. Robison completed an additional fellowship in Pediatric Neuro-Oncology at the Dana-Farber / Children’s Hospital Cancer Center in Boston. He served as clinical instructor at Harvard Medical School and attending staff in the Pediatric Neuro-Oncology Program at Dana Farber Cancer Institute and Boston Children’s Hospital from 2010 to 2013.

In April 2013 he joined the faculty of the University of Southern California Keck School of Medicine as assistant professor of pediatrics, and now serves as attending staff in the Pediatric Neuro-Oncology Program at Children's Hospital Los Angeles.

Dr. Robison's primary research focus is developing clinical trials that test new strategies in the treatment of children with brain tumors. Specific areas of interest include molecular targeted treatment of low-grade glioma, diffuse pontine glioma, and medulloblastoma; novel treatments targeting the tumor microenvironment, including antiangiogenic and immunomodulatory strategies; and neurofibromatosis.

Planning Committee:

Beth Pitel, MS, CG(ASCP)
Gordana Raca, MD, PhD, FACMG
Manuela Benary, PhD
Jason Saliba, PhD
Jane Radford, MHA, CHCP

Claudia Barnett  

CME Educational Credits:

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation

The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.

Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days from the date of the activity. Educational credit requests after this date will not be accepted.

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

ACMG Education Policies

Please review the policies below regarding the ACMG Education program

• Financial Disclosures and Mitigation Procedure
• ACMG Content Validation Policy
• ACMG Content Branding Policy

All of the relevant financial relationships listed for these individuals have been mitigated.