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This is a recording of a session from the AMP 2018 Annual Meeting & Expo. Purchase the entire AMP Annual Meeting & Expo 2018 Recordings for a significant discount!
This session will describe inherited mutations that confer an increased risk for the development of hematopoietic malignancies. We will cover the World Health Organization's provisional category for germline predisposition to myeloid malignancies as well as what is known regarding predisposition to lymphoid malignancies. We will also discuss the detection of germline mutations from next-generation sequencing panels used in prognostication of acute leukemias. Acquired mutations in genes that code for core components of the spliceosome are common in several hematopoietic malignancies. This session will also review what is known about altered RNA splicing and abnormal hematopoiesis induced by spliceosome gene mutations. In addition, we will discuss novel therapeutic strategies to target spliceosome mutant cells in patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).
Spliceosome Gene Mutations in MDS
Matthew Walter, MD, Washington University, St. Louis, MO, USA
Inherited Hematopoietic Malignancies
Lucy A. Godley, MD, PhD, The University of Chicago, Chicago, IL, USA
Objectives:
- Outline the current WHO classification for germline predisposition to myeloid malignancies.
- Describe ways in which molecular profiling can be used to detect a germline syndrome.
- Discuss ongoing variant curation by the ClinGen Myeloid Malignancy Committee.
- Define the spliceosome genes that are commonly mutated in MDS and AML.
- Summarize the types of RNA splicing alterations induced by spliceosome gene mutations.
- Recognize novel treatment approaches for patients with spliceosome gene mutations.
Duration: 1.50 hr
Recording Date: November 1, 2018
Last day to purchase: December 31, 2021
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