CDKN2A Loss

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Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Acute Lymphoblastic Leukemia1
CDKN2A Loss	(prognostic)	Prognostic	B	Supports Poor Outcome	4	accepted	EID7986 A total of thirteen studies including 2857 patients were combined in a meta-analysis. Combined HRs suggested that CDKN2A/B deletions were poor prognostic factors for both overall survival (OS) (HR = 2… (full text at CIViC) PMID 30592434 · Zhang et al., 2019 · Open in CIViC	civic
Bladder Urothelial Carcinoma1
CDKN2A Loss	Immune Checkpoint Inhibitor	Predictive	B	Supports Resistance	3	accepted	EID12546 In retrospective analyses of two large ICI-treated solid tumor cohorts (DFCI n = 789, MSKCC n = 1250), CDKN2A loss-of-function alterations were associated with significantly worse overall survival and… (full text at CIViC)

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Acute Lymphoblastic Leukemia1

CDKN2A Loss

(prognostic)

Prognostic

Supports Poor Outcome

accepted

EID7986

A total of thirteen studies including 2857 patients were combined in a meta-analysis. Combined HRs suggested that CDKN2A/B deletions were poor prognostic factors for both overall survival (OS) (HR = 2… (full text at CIViC)

PMID 30592434 · Zhang et al., 2019 · Open in CIViC

civic

Bladder Urothelial Carcinoma1

CDKN2A Loss

Immune Checkpoint Inhibitor

Predictive

Supports Resistance

accepted

EID12546

In retrospective analyses of two large ICI-treated solid tumor cohorts (DFCI n = 789, MSKCC n = 1250), CDKN2A loss-of-function alterations were associated with significantly worse overall survival and… (full text at CIViC)

Cutaneous Melanoma2
CDKN2A Loss	Alvocidib	Predictive	D	Supports Sensitivity Response	2	accepted	EID1372 Preclinical study in 9 melanoma cell lines. Three cell lines did not have CDKN2A (p16) mutations and showed expression of the protein on western blot analysis. Two of the other six cell lines had stop… (full text at CIViC) PMID 12777976 · Robinson et al., 2003 · Open in CIViC	civic
CDKN2A Loss	Palbociclib	Predictive	D	Supports Sensitivity Response	3	accepted	EID1375 In a cohort of 143 patients with primary invasive melanoma hemizygous or homozygous loss of CDKN2A was observed (FISH) in 56% of cases. PD0332991 efficacy (proliferation assay) was assessed in a panel… (full text at CIViC) PMID 24495407 · Young et al., 2014 · Open in CIViC	civic

Cutaneous Melanoma2

CDKN2A Loss

Alvocidib

Predictive

Supports Sensitivity Response

accepted

EID1372

Preclinical study in 9 melanoma cell lines. Three cell lines did not have CDKN2A (p16) mutations and showed expression of the protein on western blot analysis. Two of the other six cell lines had stop… (full text at CIViC)

PMID 12777976 · Robinson et al., 2003 · Open in CIViC

civic

CDKN2A Loss

Palbociclib

Predictive

Supports Sensitivity Response

accepted

EID1375

In a cohort of 143 patients with primary invasive melanoma hemizygous or homozygous loss of CDKN2A was observed (FISH) in 56% of cases. PD0332991 efficacy (proliferation assay) was assessed in a panel… (full text at CIViC)

PMID 24495407 · Young et al., 2014 · Open in CIViC

civic

Dermatofibrosarcoma Protuberans1
CDKN2A Loss	Palbociclib	Predictive	D	Supports Sensitivity Response	2	accepted	EID1881 An imatinib-resistant cell line, DFSP105, was established from a dermatofibrosarcoma protuberans which had progressed to a high-grade fibrosarcomatous DFSP. The disease-associated COL1A1-PDGFB fusion … (full text at CIViC) PMID 25852058 · Eilers et al., 2015 · Open in CIViC	civic

Dermatofibrosarcoma Protuberans1

CDKN2A Loss

Palbociclib

Predictive

Supports Sensitivity Response

accepted

EID1881

An imatinib-resistant cell line, DFSP105, was established from a dermatofibrosarcoma protuberans which had progressed to a high-grade fibrosarcomatous DFSP. The disease-associated COL1A1-PDGFB fusion … (full text at CIViC)

PMID 25852058 · Eilers et al., 2015 · Open in CIViC

civic

Ewing Sarcoma1
CDKN2A Loss	Linsitinib + PalbociclibSubstitutes	Predictive	D	Supports Sensitivity Response	2	accepted	EID1879 A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohort… (full text at CIViC) PMID 27286459 · Murakami et al., 2016 · Open in CIViC	civic

Ewing Sarcoma1

CDKN2A Loss

Linsitinib + PalbociclibSubstitutes

Predictive

Supports Sensitivity Response

accepted

EID1879

A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohort… (full text at CIViC)

PMID 27286459 · Murakami et al., 2016 · Open in CIViC

civic

Glioblastoma1
CDKN2A Loss	Palbociclib	Predictive	D	Supports Sensitivity Response	2	submitted	EID1559 Short term explant cultures from 20 glioblastoma multiforme (GBM) tumor xenograft lines were evaluated for CDKN2A (p16 aka INK4A) expression by western blot and RT-PCR as well as deletion by aCGH and … (full text at CIViC) PMID 22711607 · Cen et al., 2012 · Open in CIViC	civic

Glioblastoma1

CDKN2A Loss

Palbociclib

Predictive

Supports Sensitivity Response

submitted

EID1559

Short term explant cultures from 20 glioblastoma multiforme (GBM) tumor xenograft lines were evaluated for CDKN2A (p16 aka INK4A) expression by western blot and RT-PCR as well as deletion by aCGH and … (full text at CIViC)

PMID 22711607 · Cen et al., 2012 · Open in CIViC

civic

Lung Non-Small Cell Carcinoma2
CDKN2A Loss	Palbociclib	Predictive	B	Does Not Support Resistance	2	accepted	EID7444 TAPUR, a phase II basket trial, included a cohort of patients with advanced non-small lung cell carcinoma (NSCLC) harboring with CDKN2A loss or mutation and no RB mutations. Twenty-nine patients were … (full text at CIViC) Open in CIViC	civic
RB1 Wildtype AND ( CDKN2A Loss OR CDKN2A Mutation )	Palbociclib	Predictive	B	Supports Sensitivity Response	3	accepted	EID11665 A phase II clinical study was conducted with 29 patients with Non-Small-Cell Lung Cancer harboring CDKN2A alterations and wild-type Rb. The study reported one patient with a partial response, and six … (full text at CIViC) PMID 35050752 · Ahn et al., 2020 · Open in CIViC	civic

Lung Non-Small Cell Carcinoma2

CDKN2A Loss

Palbociclib

Predictive

Does Not Support Resistance

accepted

EID7444

TAPUR, a phase II basket trial, included a cohort of patients with advanced non-small lung cell carcinoma (NSCLC) harboring with CDKN2A loss or mutation and no RB mutations. Twenty-nine patients were … (full text at CIViC)

Open in CIViC

civic

RB1 Wildtype AND ( CDKN2A Loss OR CDKN2A Mutation )

Palbociclib

Predictive

Supports Sensitivity Response

accepted

EID11665

A phase II clinical study was conducted with 29 patients with Non-Small-Cell Lung Cancer harboring CDKN2A alterations and wild-type Rb. The study reported one patient with a partial response, and six … (full text at CIViC)

PMID 35050752 · Ahn et al., 2020 · Open in CIViC

civic

Malignant Biliary Tract Neoplasm1
CDKN2A Loss OR CDKN2A Mutation	Palbociclib	Predictive	B	Does Not Support Sensitivity Response	3	accepted	EID11654 A phase II clinical study conducted in 10 patients with biliary cancer with CDKN2A loss or mutation, that were treated with palbociclib. No clinical activity demonstrated in patients with CDKN2A mutat… (full text at CIViC) PMID 35100714 · Al Baghdadi et al., 2019 · Open in CIViC	civic

Malignant Biliary Tract Neoplasm1

CDKN2A Loss OR CDKN2A Mutation

Palbociclib

Predictive

Does Not Support Sensitivity Response

accepted

EID11654

A phase II clinical study conducted in 10 patients with biliary cancer with CDKN2A loss or mutation, that were treated with palbociclib. No clinical activity demonstrated in patients with CDKN2A mutat… (full text at CIViC)

PMID 35100714 · Al Baghdadi et al., 2019 · Open in CIViC

civic

Malignant Ovarian Neoplasm1
CDKN2A Loss	Palbociclib	Predictive	D	Supports Sensitivity Response	3	accepted	EID1377 Preclinical study of the effects of PD-0332991 on proliferation, cell-cycle, apoptosis, and Rb phosphorylation in a panel of 40 human ovarian cancer cell lines. Concentration-dependent antiproliferati… (full text at CIViC) PMID 21278246 · Konecny et al., 2011 · Open in CIViC	civic

Malignant Ovarian Neoplasm1

CDKN2A Loss

Palbociclib

Predictive

Supports Sensitivity Response

accepted

EID1377

Preclinical study of the effects of PD-0332991 on proliferation, cell-cycle, apoptosis, and Rb phosphorylation in a panel of 40 human ovarian cancer cell lines. Concentration-dependent antiproliferati… (full text at CIViC)

PMID 21278246 · Konecny et al., 2011 · Open in CIViC

civic

Malignant Pancreatic Neoplasm3
CDKN2A Loss OR CDKN2A Mutation	Palbociclib	Predictive	B	Does Not Support Sensitivity Response	3	accepted	EID11653 A phase II clinical study conducted with 12 patients with pancreatic cancer with CDKN2A loss or mutation treated with palbociclib. No clinical activity demonstrated in patients with CDKN2A mutated/del… (full text at CIViC) PMID 35100714 · Al Baghdadi et al., 2019 · Open in CIViC	civic
KRAS G12D AND KRAS G12R AND CDKN2A Loss AND CDKN2B Loss AND SMAD4 Deletion AND TP53 R267W	Bevacizumab + Palbociclib + TrametinibCombination	Predictive	C	Supports Sensitivity Response	3	submitted	EID11711 In this clinical trial, 18 patients with pancreatic cancer were recruited. In this case, the patient (63 y/F) with pancreatic cancer harboring, CDKN2A exons 1-2 loss, CDKN2B loss, KRAS G12D, KRAS G12R… (full text at CIViC) PMID 36670111 · Shaya et al., 2023 · Open in CIViC	civic
KRAS G12D AND KRAS G12R AND CDKN2A Loss AND CDKN2B Loss AND TP53 R267W	Bevacizumab + Palbociclib + TrametinibCombination	Predictive	C	Supports Sensitivity Response	3	submitted	EID11710 In this clinical trial, 18 patients with pancreatic cancer were recruited. In this case, the patient (69 y/M) with pancreatic cancer harboring, CDKN2A exons 1-2 loss, CDKN2B loss, KRAS G12D, KRAS G12R… (full text at CIViC) PMID 36670111 · Shaya et al., 2023 · Open in CIViC	civic

Malignant Pancreatic Neoplasm3

CDKN2A Loss OR CDKN2A Mutation

Palbociclib

Predictive

Does Not Support Sensitivity Response

accepted

EID11653

A phase II clinical study conducted with 12 patients with pancreatic cancer with CDKN2A loss or mutation treated with palbociclib. No clinical activity demonstrated in patients with CDKN2A mutated/del… (full text at CIViC)

PMID 35100714 · Al Baghdadi et al., 2019 · Open in CIViC

civic

KRAS G12D AND KRAS G12R AND CDKN2A Loss AND CDKN2B Loss AND SMAD4 Deletion AND TP53 R267W

Bevacizumab + Palbociclib + TrametinibCombination

Predictive

Supports Sensitivity Response

submitted

EID11711

In this clinical trial, 18 patients with pancreatic cancer were recruited. In this case, the patient (63 y/F) with pancreatic cancer harboring, CDKN2A exons 1-2 loss, CDKN2B loss, KRAS G12D, KRAS G12R… (full text at CIViC)

PMID 36670111 · Shaya et al., 2023 · Open in CIViC

civic

KRAS G12D AND KRAS G12R AND CDKN2A Loss AND CDKN2B Loss AND TP53 R267W

Bevacizumab + Palbociclib + TrametinibCombination

Predictive

Supports Sensitivity Response

submitted

EID11710

In this clinical trial, 18 patients with pancreatic cancer were recruited. In this case, the patient (69 y/M) with pancreatic cancer harboring, CDKN2A exons 1-2 loss, CDKN2B loss, KRAS G12D, KRAS G12R… (full text at CIViC)

PMID 36670111 · Shaya et al., 2023 · Open in CIViC

civic

Melanoma1
CDKN2A Loss	Dabrafenib + VemurafenibSubstitutes	Predictive	B	Supports Resistance	4	submitted	EID7679 In a retrospective study, authors analyzed 100 tumor samples from 44 patients with BRAF mutant melanoma whose tumor developed acquired resistance to either vemurafenib or dabrafenib monotherapy. Among… (full text at CIViC) PMID 24265155 · Shi et al., 2014 · Open in CIViC	civic

Melanoma1

CDKN2A Loss

Dabrafenib + VemurafenibSubstitutes

Predictive

Supports Resistance

submitted

EID7679

In a retrospective study, authors analyzed 100 tumor samples from 44 patients with BRAF mutant melanoma whose tumor developed acquired resistance to either vemurafenib or dabrafenib monotherapy. Among… (full text at CIViC)

PMID 24265155 · Shi et al., 2014 · Open in CIViC

civic

Renal Cell Carcinoma1
CDKN2A Loss	Palbociclib	Predictive	D	Supports Sensitivity Response	3	accepted	EID1373 Preclinical study of CDK4/6 inhibitor PD-0332991 in 28 renal carcinoma cell lines (25 malignant RCC and three non-malignant, transformed cell lines derived from kidney epithelium). Both p15 and p16 lo… (full text at CIViC) PMID 23898052 · Logan et al., 2013 · Open in CIViC	civic

Renal Cell Carcinoma1

CDKN2A Loss

Palbociclib

Predictive

Supports Sensitivity Response

accepted

EID1373

Preclinical study of CDK4/6 inhibitor PD-0332991 in 28 renal carcinoma cell lines (25 malignant RCC and three non-malignant, transformed cell lines derived from kidney epithelium). Both p15 and p16 lo… (full text at CIViC)

PMID 23898052 · Logan et al., 2013 · Open in CIViC

civic

HER2 Negative Breast Cancer1unmapped disease
CDKN2A Loss	Letrozole + PalbociclibCombination	Predictive	C	Supports Sensitivity Response	3	accepted	EID1765 A patient with metastatic ER-positive, her2-negative breast cancer with CDKN2A loss experienced a short-lived (~3-month) clinical response to palbociclib when given in combination with letrozole. PMID 26715889 · Gao et al., 2015 · Open in CIViC	civic

HER2 Negative Breast Cancer1unmapped disease

CDKN2A Loss

Letrozole + PalbociclibCombination

Predictive

Supports Sensitivity Response

accepted

EID1765

A patient with metastatic ER-positive, her2-negative breast cancer with CDKN2A loss experienced a short-lived (~3-month) clinical response to palbociclib when given in combination with letrozole.

PMID 26715889 · Gao et al., 2015 · Open in CIViC

civic

Evidence by cancer (17 items)

Clinical significance (0)