CDKN2A Deletion

CI-VAR-00000638Explore in graph →CIViC 2654

Curated evidence

Evidence by cancer (6 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–6 of 6 evidence items across 6 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Acute Lymphoblastic Leukemia1
CDKN2A Deletion	(prognostic)	Prognostic	B	Supports Poor Outcome	4	rejected	EID7985 CDKN2A/B deletions were poor prognostic factors for both overall survival (OS) (HR = 2.15, 95% CI 1.82-2.54) and event-free survival (EFS)/disease-free survival (DFS)/relapse-free survival (RFS) (HR =… (full text at CIViC) PMID 30592434 · Zhang et al., 2019 · Open in CIViC	civic
B Lymphoblastic Leukemia/Lymphoma1
IKZF1 Deletion AND NOT ERG Deletion AND ( P2RY8::CRLF2 Fusion OR CDKN2A Deletion OR CDKN2B Deletion OR PAX5 Deletion )	(prognostic)	Prognostic	B	Supports Poor Outcome	5	submitted	EID7786 83 of 991 cases of pediatric B-cell precursor (BCP) acute lymphoblastic leukemia (ALL) were found to have IKZF1 deletion, previously reported as an independent factor associated with a poor prognosis.…

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Childhood Low Grade Glioma1
CDKN2A Deletion	(prognostic)	Prognostic	B	Supports Poor Outcome	4	accepted	EID7192 CDKN2A deletion was identified in 24 of 273 patients with PLGGs using FISH analysis. An association between this alteration and BRAFV600E was detected (p=0.0001). Hemispheric tumors with CDKN2A deleti… (full text at CIViC) PMID 29948154 · Yang et al., 2018 · Open in CIViC	civic

Ganglioglioma1
BRAF V600E AND CDKN2A Deletion AND CDKN2B Deletion AND TET2 E796K AND BAX L76R AND AXIN2 P455K	Cobimetinib + VemurafenibCombination	Predictive	C	Supports Sensitivity Response	1	submitted	EID11314 In this case study, a 28-year-old male with BRAF V600E-mutant anaplastic ganglioglioma was started with vemurafenib at 960 mg twice daily in March 2015 for tumour recurrence despite one surgical resec… (full text at CIViC) PMID 30120137 · Touat et al., 2018 · Open in CIViC	civic

Gastrointestinal Stromal Tumor1
CDKN2A Deletion	Palbociclib	Predictive	B	Does Not Support Sensitivity Response	4	submitted	EID7311 In a phase 2 trial, patients with GIST bearing CDKN2A gene loss were treated with Palbociclib. 86.4% of patients had PD at 4 months. PMID 30979737 · Toulmonde et al., 2019 · Open in CIViC	civic

Supratentorial Ependymoma ZFTA Fusion-Positive1
CDKN2A Deletion AND ZFTA::RELA Fusion	(prognostic)	Prognostic	B	Supports Poor Outcome	3	submitted	EID11446 In a series of 54 supratentorial ependymomas with ZFTA::RELA fusions (termed fusions between C11orf95 and RELA at time of publication), homozygous deletion of CDKN2A was found in 9 cases and hemizygou… (full text at CIViC) PMID 32514758 · Jünger et al., 2020 · Open in CIViC	civic