Abstract
CBL is a mammalian gene encoding the protein CBL, which is an E3 ubiquitin-protein ligase involved in cell signaling and protein ubiquitination. Pathogenic variants in this gene have been implicated in a number of human cancers, particularly acute myeloid leukemia (AML). Here, we present a 5-year-old male patient with a history of AML, diffuse midline glioma, and left brain lesion with histiocytic features. A variant of uncertain significance (VUS): p.L493F was detected in his CBL gene via clinical evaluation. Protein modeling predicts this variant to be pathogenic. Details of the clinical evaluation and modeling assay are discussed.
Original language | English (US) |
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Pages (from-to) | 18-24 |
Number of pages | 7 |
Journal | Cancer Genetics |
Volume | 254-255 |
DOIs | |
State | Published - Jun 2021 |
Keywords
- Acute myeloid leukemia
- CBL
- Cancer
- Cancer predisposition
- Cell signaling
- Diffuse midline glioma
- Germline
- Protein modeling
- Protein ubiquitination
- Variant
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Cancer Research