Juvenile Myelomonocytic Leukemia — Variants & evidence

Juvenile Myelomonocytic Leukemia — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

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

civicCuratedShowing 1–3 of 3 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
CBL Y371H1
(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID7147 Three patients displayed variable developmental conditions with predisposition to JMML. All cases included a copy neutral loss of heterozygosity of the 11q23 chromosomal region, encompassing the CBL l… (full text at CIViC) PMID 20543203 · Pérez et al., 2010 · Open in CIViC	civic
PTPN11 D61Y1
(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID6967 We identified missense mutations in PTPN11 in 21 of 62 individuals with JMML but without Noonan syndrome (34%; 95% confidence interval (c.i.) = 22–47%), with nine different molecular defects in exon 3… (full text at CIViC) PMID 12717436 · Tartaglia et al., 2003 · Open in CIViC	civic
SETBP1 D868N1
(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID6968 Five of the 11 somatic mutations were non–RAS pathway mutations, involving SETBP1 (3 p.Asp868Asn alterations), JAK3 (1 p.Arg657Gln alteration) and SH3BP1 (1 p.Ser277Leu alteration), which had not been… (full text at CIViC) PMID 23832011 · Sakaguchi et al., 2013 · Open in CIViC	civic

Data updated 14 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.