Pediatric and/or Germline Mutation-Associated Myeloid Disorders

Pediatric and/or Germline Mutation-Associated Myeloid Disorders — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

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

civicCuratedShowing 1–5 of 5 evidence items (5 on this page mapped to a descendant entity) · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
CBL Y371H1
(predisposing)	Juvenile Myelomonocytic Leukemia	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
GATA1 Mutation1
(diagnostic)	Myeloid Leukemia Associated with Down Syndrome	Diagnostic	A	Supports Positive	5	submitted	EID8511 Children with Down syndrome are at increased risk to developing Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia associated with Down Syndrome (ML-DS). GATA1, a gene that encodes an essentia… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC	civic
GATA1 p.Ser51Alafs*861
(prognostic)	Transient Abnormal MyelopoiesisALIAS	Prognostic	C	Supports Better Outcome	2	submitted	EID8302 We report an additional case of twin-to-twin transmission of a TAM clone with identical GATA1 exon 2 mutations in monochorionic-diamniotic twin infants without constitutional T21. This case along with… (full text at CIViC) PMID 32464589 · Roseman et al., 2020 · Open in CIViC	civic
PTPN11 D61Y1
(diagnostic)	Juvenile Myelomonocytic Leukemia	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)	Juvenile Myelomonocytic Leukemia	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 17 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.