Gene

PDGFRA

platelet derived growth factor receptor alpha

Explore in graph →CI-GENE-00019277HGNC:8803 ENSG00000134853 NCBI 5156 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (72)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–50 of 72 evidence items · 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
PDGFRA Fusion2
Imatinib	B Acute Lymphoblastic LeukemiaALIAS	Predictive	C	Supports Sensitivity Response	3	accepted

Cohorts

Alteration frequency by cohort (126)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved126 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Colorectal Cancer (MSK, Cancer Discovery 2022) coadread_mskresistance_2022	Colorectal Adenocarcinoma	Ssm

Literature

Linked publications (20)

25 per page, newest first.

pubmedPublishedShowing 1–20 of 20 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
· Blood · 2016 · PMID 27069254 · validated civic_curation pubmed
Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor.
· J Clin Oncol · 2003 · PMID 14645423 · validated civic_curation pubmed
A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome.
· N Engl J Med · 2003 · PMID 12660384 · validated civic_curation pubmed
PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib.
· J Clin Oncol · 2005 · PMID 15928335 · validated

PDGFRA Fusion11
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	submitted	EID13331 In a 10-year-old female diagnosed with B-lymphoblastic leukemia/lymphoma (B-LL/B-ALL), FISH analysis identified a CHIC2 deletion, suggestive of a FIP1L1::PDGFRA fusion, which was subsequently confirme… (full text at CIViC) PMID 39996417 · Nunn et al., 2025 · Open in CIViC	civic
Imatinib	Myeloproliferative NeoplasmCURATED_BROADER	Predictive	A	Supports Sensitivity Response	4	submitted	EID11273 In this phase II, open-label, non-randomized trial, 36 patients with the myeloproliferative neoplasms chronic eosinophilic leukemia, CEL (n = 23) and hypereosinophilic syndrome, HES (n = 13) were enro… (full text at CIViC) PMID 18950453 · Metzgeroth et al., 2008 · Open in CIViC	civic
〃	Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS	Predictive	A	Supports Sensitivity Response	3	accepted	EID1445 Of eleven patients prospectively accrued with hypereosinophilic syndrome, nine had favorable responses to imatinib that lasted >3 months post-treatment. Of these nine patients, five were found to have… (full text at CIViC) PMID 12660384 · Cools et al., 2003 · Open in CIViC	civic
〃	Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS	Predictive	B	Supports Sensitivity Response	4	accepted	EID1441 A cohort of seven male patients with myeloproliferative hypereosinophilic syndrome and elevated serum tryptase levels were enrolled in a study of imatinib mesylate therapy. All seven patients demonstr… (full text at CIViC) PMID 14504092 · Klion et al., 2004 · Open in CIViC	civic
〃	Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS	Predictive	C	Supports Sensitivity Response	3	accepted	EID1774 A patient with monoblastic myeloid sarcoma harbouring a PCR confirmed FIP1L1-PDGFRA rearrangement was treated with imatinib monotherapy. The patient demonstrated a durable response (10 wks) while on t… (full text at CIViC) PMID 24456122 · Srinivas et al., 2014 · Open in CIViC	civic
Chemotherapy + ImatinibCombination	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	2	submitted	EID12565 A 10‐year‐old female patient presented with pancytopenia and normal eosinophils and had the diagnosis of B‐lymphoblastic leukemia/lymphoma. FISH identified a CHIC2 deletion, suggestive of FIP1L1::PDG… (full text at CIViC) PMID 39996417 · Nunn et al., 2025 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/LymphomaCURATED_BROADER	Predictive	C	Supports Sensitivity Response	2	submitted	EID12566 A previously healthy 2-year-old girl presented with right supraorbital swelling, hepatosplenomegaly, anemia (Hb 8.2 g/dl) and leukocytosis (WBC 19.5 × 109/L) with eosinophilia of 32% and an absolute e… (full text at CIViC) PMID 36589160 · Akiely et al., 2022 · Open in CIViC	civic
Ponatinib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	2	submitted	EID7381 In this preclinial trial, the AML cell line EOL1 with FIP1L1-PDGFR alpha mutation was treated with Ponatinib. This drug effectively inhibits both PDGFR phosphorylation and viability for EOL1 cells at … (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in CIViC	civic
Dasatinib + Masitinib + Midostaurin + Nilotinib + Ponatinib + Sorafenib + SunitinibSubstitutes	Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS	Predictive	D	Supports Sensitivity Response	3	accepted	EID1777 In a FIP1L1-PDGFRA positive eosinophil cell line growth-inhibitory effects were seen with all PDGFR-blocking agents, (ponatinib: 0.1-0.2nM, sorafenib: 0.1-0.2nM, masitinib: 0.2-0.5nM, nilotinib: 0.1-1… (full text at CIViC) PMID 24407160 · Sadovnik et al., 2014 · Open in CIViC	civic
Sorafenib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	rejected	EID7377 In a preclinical trial, EOL1 AML cell lines with the FIP1L1-PDGFRa fusion mutation were treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was similarly e… (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in CIViC	civic
Sorafenib + SunitinibSubstitutes	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	accepted	EID7378 In a preclinical trial, the AML cell line EOL1with the FIP1L1-PDGFRa fusion mutation was treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was similarly … (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in CIViC	civic

PDGFRA Fusion11

(diagnostic)

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Diagnostic

Supports Positive

submitted

EID13331

In a 10-year-old female diagnosed with B-lymphoblastic leukemia/lymphoma (B-LL/B-ALL), FISH analysis identified a CHIC2 deletion, suggestive of a FIP1L1::PDGFRA fusion, which was subsequently confirme… (full text at CIViC)

PMID 39996417 · Nunn et al., 2025 · Open in CIViC

PDGFRA Fusion + PDGFRA T674I4
Dasatinib	Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS	Predictive	D	Supports Resistance	2	submitted	EID4420 In an in vitro study, a Ba/F3 cell line stably expressing the T674I mutation in the PDGFRA portion of the FIPL1-PDGFRA fusion protein was found to have reduced sensitivity to dasatinib treatment (IC50… (full text at CIViC) PMID 19212337 · Lierman et al., 2009 · Open in CIViC	civic
Imatinib	Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS	Predictive	C	Supports Resistance	3	accepted	EID7020 One patient with FIP1L1/PDGFRA-positive CEL was identified as developing secondary resistance to imatinib. A PDGFRA T674I mutation was identified in the tyrosine kinase domain. Salvage therapy with ni… (full text at CIViC) PMID 21818111 · Metzgeroth et al., 2012 · Open in CIViC	civic
〃	Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS	Predictive	C	Supports Resistance	2	accepted	EID1446 A patient treated with imatinib for a FIP1L1-PDGFRA mutation relapsed during treatment. A T674I mutation in the PDGFRA split kinase domain was hypothesized to confer resistance, due to the strong evid… (full text at CIViC) PMID 12660384 · Cools et al., 2003 · Open in CIViC	civic
Ponatinib	Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS	Predictive	D	Supports Sensitivity Response	3	accepted	EID1779 Ba/F3 cells expressing two clinically relevant, imatinib-resistant, mutant forms of FIP1L1-PDGFRA, namely T674I and D842V were tested for growth inhibition by 8 PDGFR-blocking TKIs. Strong inhibitory … (full text at CIViC) PMID 24407160 · Sadovnik et al., 2014 · Open in CIViC	civic

PDGFRA Amplification3
Imatinib + SunitinibSubstitutes	Lung Squamous Cell Carcinoma	Predictive	D	Supports Sensitivity Response	3	submitted	EID7989 Cell line NCI-H1703 is PDGFRA amplified and KIT wild-type. NCI-H1703 was treated with a PDGFRA inhibitor, imatinib or sunitinib. The IC50 of imatinib or sunitinib was lower in PDGFRA amplified NCI-H… (full text at CIViC) PMID 19755855 · Ramos et al., 2009 · Open in CIViC	civic
Sunitinib	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	accepted	EID1771 In a high-throughput cell line screen of 637 cell lines, only 2 sunitinib sensitive cell lines were identified. In the sunitinib-sensitive adenosquamous NSCLC cell line (NCI-H1703), PDGFRA expression … (full text at CIViC) PMID 19366796 · McDermott et al., 2009 · Open in CIViC	civic
Trametinib	Malignant NeoplasmALIAS	Predictive	D	Does Not Support Sensitivity Response	3	submitted	EID12457 Cell lines were treated with varying concentrations of trametinib for 3 days. Viability was measured by ATP-Glo. The lung large cell carcinoma cell line, H661 (PDGFRA amplification), was not sensitive… (full text at CIViC) PMID 28783719 · Yao et al., 2017 · Open in CIViC	civic

PDGFRA D842V17
(diagnostic)	Gastrointestinal Stromal Tumor	Diagnostic	B	Supports Negative	3	accepted	EID2 GIST tumors harboring PDGFRA D842V mutation are more likely to be benign than malignant. PMID 15146165 · Lasota et al., 2004 · Open in CIViC	civic
Avapritinib	Gastrointestinal Stromal Tumor	Predictive	B	Supports Sensitivity Response	4	submitted	EID7479 In a phase 2 trial, patients with gastrointestinal stromal tumor (GIST) harboring with PDGFRA D842V or other exon 18 mutation were treated with Avapritinib which have broad activity against oncogenic … (full text at CIViC) Open in CIViC	civic
Bosutinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	2	submitted	EID7514 In an in vitro kinase study, the recombinant PDGFRA D842V mutant kinase demonstrated sensitivity to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 25 and 6) when compared to wild t… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC	civic
Crenolanib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	4	accepted	EID44 In CHO cells with PDGFRA D842V mutation that have shown imatinib resistance, crenolanib was significantly more potent at inhibiting kinase activity than imatinib. PMID 22745105 · Heinrich et al., 2012 · Open in CIViC	civic
Dasatinib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	—	submitted	EID4057 In an in vitro study, gastrointestinal tumor (GIST) cells (endogenous expression) and Ba/F3 murine cells (overexpression) with the PDGFRA D842V mutation were associated with sensitivity to dasatinib t… (full text at CIViC) PMID 18794084 · Dewaele et al., 2008 · Open in CIViC	civic
Imatinib	Gastrointestinal Stromal Tumor	Predictive	A	Does Not Support Sensitivity Response	3	submitted	EID11545 In this retrospective survey of clinical studies in sarcoma and/or GISTs in Europe, 58 patients were included with advanced PDGFRA-mutant GISTs treated with imatinib for advanced disease. The primary … (full text at CIViC) PMID 22718859 · Cassier et al., 2012 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Resistance	4	accepted	EID15 GIST cancer with D842V mutation is resistant to imatinib. PMID 15928335 · Corless et al., 2005 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Resistance	4	accepted	EID16 While cancer with PDGFRA V561D mutation is known to be sensitive to Imatinib, double mutation of V561D and D842V mutants are resistant to imatinib. PMID 16954519 · Heinrich et al., 2006 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Resistance	4	accepted	EID738 823 patients with GIST under therapy with imatinib were genotyped for this study. 18 patients (2%) with PDGFRA mutations were identified. In D842V-mutant GISTs, PFS (median 3.8 months) and OS (median … (full text at CIViC) PMID 26130666 · Yoo et al., 2016 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	C	Supports Resistance	2	accepted	EID2478 This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) examined the relationship between kinase (KIT and PDGFRA) genotype and treatment outcome for patients enr… (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	D	Supports Resistance	3	accepted	EID651 When 293T cells stably transduced with PDGFRA A842V were treated with imatinib, tyrosine phosphorylation was maintained at 1 and 10umol/L concentrations that inhibited phosphorylation of wildtype PDGF… (full text at CIViC) PMID 12949711 · Hirota et al., 2003 · Open in CIViC	civic
〃	Malignant NeoplasmALIAS	Predictive	D	Supports Resistance	2	accepted	EID2463 In an in vitro study of imatinib sensitivity, PDGFRA D842V was cloned into a plasmid by site-directed mutagenesis of PDGFRA WT cDNA. Chinese hamster ovary cells were transiently transfected with the p… (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC	civic
Imatinib Mesylate	Malignant NeoplasmALIAS	Predictive	D	Supports Resistance	2	accepted	EID5346 In an in vitro study, Chinese hamster ovary cells expressing PDGFRA D842V mutation demonstrated reduced sensitivity to imatinib treatment (IC50=2,500 vs. IC50<100), compared to Chinese hamster ovary c… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
Sunitinib	Gastrointestinal Stromal Tumor	Predictive	B	Supports Resistance	3	submitted	EID4058 In a prospective study of 137 gastrointestinal stromal tumor patients who failed imatinib treatment, patients with PDGFRA mutation (12/89; 11/12 tumors genotyped as D842V) treated with sunitinib were… (full text at CIViC) PMID 22439647 · Rutkowski et al., 2012 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	C	Supports Resistance	3	accepted	EID4597 Patients 29 and 66 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) PDGFRA D… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
〃	Malignant NeoplasmALIAS	Predictive	D	Supports Resistance	2	accepted	EID4060 In an in vitro study, Chinese hamster ovary cells expressing PDGFRA D842V mutation demonstrated reduced sensitivity to sunitinib treatment (IC50>1000 vs. IC50<100), compared to Chinese hamster ovary c… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	D	Supports Resistance	—	submitted	EID4059 In an in vitro study, Ba/F3 cells expressing PDGFRA D842V mutation (overexpression) demonstrated resistance to sunitinib treatment. Sensitivity was determined by assessing PDGFRA auto-phosphorylation … (full text at CIViC) PMID 16638875 · Prenen et al., 2006 · Open in CIViC	civic