2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Unfavorable Disease Progression in patients with Chronic Myeloid Leukemia and Concurrent t(6;9) translocation (DEK-NUP214 fusion) or inversion 16

Pdf Summary

The document discusses two cases of chronic myeloid leukemia (CML) with unfavorable disease progression due to specific genetic abnormalities. In the first case, a 50-year-old male with CML was found to have a concurrent t(6;9) translocation and inv(16) chromosomal abnormalities. These abnormalities are typically associated with poor prognosis, and the patient did not achieve remission despite treatment. The second case involves a 60-year-old male with CML who presented with neurological symptoms and severe leukocytosis. Bone marrow analysis revealed a t(9;22) translocation along with an inversion of chromosome 16, indicating cytogenetics clonal evolution and blast phase CML.<br /><br />The document also describes the methodologies used for cytogenetics analysis, including G-banding, fluorescent in situ hybridization (FISH), and next-generation sequencing (NGS). These techniques were employed to identify the specific genetic abnormalities in the patients' leukemia cells.<br /><br />The discussion section highlights the rarity of the identified genetic abnormalities in CML and their association with unfavorable prognosis. The importance of comprehensive diagnostic work-up, including karyotype testing and NGS, is emphasized in identifying these concurrent aberrations in CML.<br /><br />Overall, the document provides detailed clinical histories, cytogenetic findings, and genetic analyses of two cases of CML with unfavorable disease progression due to specific genetic abnormalities. The cases emphasize the need for further research and understanding of these rare genetic aberrations in CML and their implications for prognosis and treatment.

Asset Subtitle

Presenting Author - Ying Zhang, MD, PhD; Co-Author - Jack Reid, MD; Co-Author - Kapitolina Semenova, MD; Co-Author - Deepa Jeyakumar, MD; Co-Author - Lisa Lee, MD; Co-Author - Katherine Dang, Bachelor; Co-Author - Johnson Tso, Bachelor; Co-Author - Lynn Yang, Bachelor; Co-Author - Angela Fleishman, MD; Co-Author - Jefferson Y. Chan, MD, PhD; Co-Author - Xiaohui Zhao, MD, PhD; Co-Author - Fabiola Quintero-Rivera, MD, FACMG;

Meta Tag

Cancer Cytogenetics

Chromosomal Abnormalities

Clinical Cytogenetics

Cytogenetics

FISH

Genetic Testing

Molecular Cytogenetics

Co-Author Jack Reid, MD

Co-Author Kapitolina Semenova, MD

Co-Author Deepa Jeyakumar, MD

Co-Author Lisa Lee, MD

Co-Author Katherine Dang, Bachelor

Co-Author Johnson Tso, Bachelor

Co-Author Lynn Yang, Bachelor

Co-Author Angela Fleishman, MD

Co-Author Jefferson Y. Chan, MD, PhD

Co-Author Xiaohui Zhao, MD, PhD

Co-Author Fabiola Quintero-Rivera, MD, FACMG

Presenting Author Ying Zhang, MD, PhD

Keywords

chronic myeloid leukemia

CML

unfavorable disease progression

genetic abnormalities

poor prognosis

remission

neurological symptoms

cytogenetics analysis

next-generation sequencing

prognosis