B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation — Variants & evidence

B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

4 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.

civicCuratedShowing 1–4 of 4 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
PAX5 P80R4
(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID11519 RNA-seq transcriptome analysis in a discovery cohort of 170 B-cell precursor acute lymphoblastic leukemia (BCP-ALL) cases negative for the common classifying cytogenetic aberrations identified severa… (full text at CIViC) PMID 30510083 · Passet et al., 2019 · Open in CIViC	civic
〃	Diagnostic	B	Supports Positive	3	accepted	EID7290 In a large-scale international study RNA sequencing was performed to delineate the transcriptome landscape of 1,223 B-cell ALL cases. Twenty two cases were found to have P80R misense mutation in the D… (full text at CIViC) PMID 30487223 · Li et al., 2018 · Open in CIViC	civic
〃	Diagnostic	B	Supports Positive	3	accepted	EID7291 Integrated genomic analysis was performed for 1,988 childhood and adult B-ALL cases. Forty four cases (2.2%) showed the P80R substitution in the DNA binding domain for the PAX5 transcription factor ge… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC	civic
(oncogenic)	Oncogenic	D	Supports Oncogenicity	4	submitted	EID11522 To examine the effects of PAX5 P80R on B cell maturation, PAX5 WT, P80R, V26G, and P34Q were expressed in Pax5 depleted bone marrow cells. While PAX5 V26G and PAX5 P34Q could rescue B cell differentia… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC	civic

Data updated 23 hours agoSource updated unknownsource: civic (CC0)

Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.