Blastoma — Variants & evidence

Blastoma — 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 (4 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
DICER1 D1810Y1
(oncogenic)	Pleuropulmonary Blastoma	Oncogenic	D	Supports Oncogenicity	2	submitted	EID6093 Sanger sequencing of several pleuropulmonary blastoma tumor lines showed possible somatic missense mutation, D1810Y, in DicerI. All mutations thought to be somatic were found in the RNase IIIb domain.… (full text at CIViC) PMID 24675358 · Seki et al., 2014 · Open in CIViC	civic
DICER1 E1813D + DICER1 R392fs1
(oncogenic)	Pleuropulmonary Blastoma	Oncogenic	C	Supports Oncogenicity	1	submitted	EID7059 These two mutations were identified in the tumor tissue in an NGS based panel and were not seen in the adjacent normal lung tissue. This confirms it as a rare case of somatically acquired Biallelic mu… (full text at CIViC) PMID 24909177 · Pugh et al., 2014 · Open in CIViC	civic
DICER1 Loss-of-function + DICER1 RNase IIIb Mutation2
(diagnostic)	Pituitary Gland BlastomaALIAS	Diagnostic	B	Supports Positive	3	submitted	EID11482 An analysis of 13 infants with pituitary blastoma (age 7-24 months) demonstrated recurrent DICER1 mutations. Of those with samples available for sequencing, 9 of 9 (100%) had germline DICER1 mutation… (full text at CIViC) PMID 24839956 · de Kock et al., 2014 · Open in CIViC	civic
〃	Pituitary Gland BlastomaALIAS	Diagnostic	B	Supports Positive	2	submitted	EID11483 This 2021 paper analyzed the outcomes and complications of 17 patients with pituitary blastoma. The median age of diagnosis was 11 months with a range of 2-24 months. Germline DICER1 variants were… (full text at CIViC) PMID 33236116 · Liu et al., 2021 · Open in CIViC	civic

Data updated 9 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.