Erythroid Neoplasm — Variants & evidence

Erythroid Neoplasm — 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
JAK2 V617F2
Fedratinib	Polycythemia Vera	Predictive	D	Supports Sensitivity Response	3	accepted	EID20 TG101348 effectively inhibits STAT5 signaling in JAK2 V617F cells. PMID 18394554 · Wernig et al., 2008 · Open in CIViC	civic
Peginterferon Alfa-2b	Polycythemia Vera	Predictive	B	Supports Sensitivity Response	4	accepted	EID19 In patients with JAK2 V617F, the use of pegylated IFN-alpha-2a leads to reduction in the percentage of cells harboring JAK2 V617F. PMID 16709929 · Kiladjian et al., 2006 · Open in CIViC	civic
VHL D126N (c.376G>A)1
(predisposing)	Polycythemia Vera	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6856 A case report revealed a 7 month old male infant of Bangladesh ethnicity with a novel homozygous VHL germline missense (c.376G>A; p.Asp126Asn) mutation with congenital polycythemia and dramatically el… (full text at CIViC) PMID 24729484 · Sarangi et al., 2014 · Open in CIViC	civic
VHL H191D (c.571C>G)1
(predisposing)	Polycythemia Vera	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6485 A 12 year old white male child presented with polycythemia. Genetic testing confirmed a germline missense mutation found at c.571C>G (p.His191Asp) in the VHL gene. This is the only other case of a hom… (full text at CIViC) PMID 16617601 · Hajnzić et al., 2006 · Open in CIViC	civic
VHL R200W (c.598C>T)1
(predisposing)	Polycythemia Vera	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6470 Plasma concentrations of Th1 and Th2 cytokines were analyzed using the Bio-Plex multiplex suspension array system in 34 homozygotes VHL patients, 4 heterozygous VHL patients, and 32 VHL wild-type part… (full text at CIViC) PMID 19062180 · Niu et al., 2009 · Open in CIViC	civic

Data updated 21 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.