Hematologic Neoplasm Associated with Down Syndrome — Variants & evidence

Hematologic Neoplasm Associated with Down Syndrome — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

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

civicCuratedShowing 1–2 of 2 evidence items (2 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
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

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.