Annotation Detail

Information
Associated Genes
JAK2
Associated Variants
JAK2 SSBP2-JAK2
Associated Disease
B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like
Source Database
CIViC Evidence
Description
The SSBP2-JAK2 fusion was identified in a 14 yo male with Ph-like B-ALL, a t(5;9)(q12;p1?3), and a WBC of 160,000. Following 4-drug induction therapy the patient had an MRD of 5.5%, indicating a poor response. After two additional weeks of induction, intermittent ruxolitinib was added to his regimen and a bone marrow performed 3 weeks after the addition of ruxolitinib showed 1% MRD. Following consolidation, the bone marrow showed 0.3% MRD.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7257
Gene URL
https://civic.genome.wustl.edu/links/genes/28
Variant URL
https://civic.genome.wustl.edu/links/variants/2661
Rating
3
Evidence Type
Predictive
Disease
B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like
Evidence Direction
Supports
Drug
Ruxolitinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25207766
Drugs
Drug NameSensitivitySupported
RuxolitinibSensitivitytrue