Annotation Detail

Information
Associated Genes
JAK2
Associated Variants
JAK2 JAK2 fusions
JAK2 JAK2 fusions
Associated Disease
Pediatric B-cell Acute Lymphoblastic Leukemia
Source Database
CIViC Evidence
Description
A 17-year-old Native American female with B-ALL had persistent MRD at the end of induction. In addition to a complex karyotype, sequencing revealed a novel F694L mutation in JAK2, a p.Cys119_Ile121delinsTrpGlyLeu in IKZF1, and a IGH-CRLF2 translocation, all consistent with BCR-ABL1 like B-ALL. In addition to conventional cytotoxic therapy, the patient was started on 40 mg/m2/day ruxolitinib TKI BID for 2 weeks on, 2 weeks off, and MRD diminished to <0.01% prior to allogeneic transplant. The patient was in remission with 100% engraftment from a full match sibling at day 100 post-transplant.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7021
Gene URL
https://civic.genome.wustl.edu/links/genes/28
Variant URL
https://civic.genome.wustl.edu/links/variants/2587
Rating
2
Evidence Type
Predictive
Disease
Pediatric B-cell Acute Lymphoblastic Leukemia
Evidence Direction
Supports
Drug
Ruxolitinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
27860260
Drugs
Drug NameSensitivitySupported
RuxolitinibSensitivitytrue