Rare TBL1XR1::JAK2 fusion in a patient with pediatric T-ALL identified by optical genome mapping & long-read sequencing

Creators

Aravindh Nagarajan, Children's Mercy Kansas CityFollow

Files

Description

Introduction: JAK2 rearrangements are recurrently observed (and correlate with some of the lowest survival rates) within Ph-like B-cell acute lymphoblastic leukemia but are very rare in Tcell Lymphoblastic Leukemia (T-ALL). Here we present a patient with pediatric T-ALL who was shown to have a TBL1XR1::JAK2 fusion by Optical Genome Mapping (OGM), which was further supported by long-read sequencing. This is only the second report of JAK2 fusing with TBL1XR1 in pediatric T-ALL.

Publication Date

8-2025

When and Where Presented

Presented at the 16th Annual meeting of the Cancer Genomics Consortium (CGC); Houston, TX; August 3-6, 2025.

Recommended Citation

Nagarajan, Aravindh, "Rare TBL1XR1::JAK2 fusion in a patient with pediatric T-ALL identified by optical genome mapping & long-read sequencing" (2025). Presentations. 118.
https://scholarlyexchange.childrensmercy.org/presentations/118