Gene

PDGFRB

platelet derived growth factor receptor beta

Explore in graph →CI-GENE-00019278HGNC:8804 ENSG00000113721 NCBI 5159 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (30)

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

civicCuratedShowing 1–30 of 30 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
PDGFRB e10::e112
(oncogenic)	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Oncogenic	C	Supports Oncogenicity	4	submitted

Cohorts

Alteration frequency by cohort (107)

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

cbioportalObserved107 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
Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) cscc_dfarber_2015	Skin Squamous Cell Carcinoma	Ssm

Literature

Linked publications (10)

25 per page, newest first.

pubmedPublishedShowing 1–10 of 10 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
Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders.
· Blood · 2007 · PMID 16960151 · validated civic_curation pubmed
Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
· N Engl J Med · 2014 · PMID 25207766 · validated civic_curation pubmed
Tyrosine kinase inhibitor therapy induces remission in a patient with refractory EBF1-PDGFRB-positive acute lymphoblastic leukemia.
· J Clin Oncol · 2013 · PMID 23835704 · validated civic_curation

PDGFRB e6::e112
(oncogenic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Oncogenic	C	Supports Oncogenicity	4	submitted	EID13007 A 4 yr old boy was diagnosed with precursor B-cell ALL. Patient had normal karyotype. The patient was refractory to prolonged induction therapy. Presence of PDGFRB rearrangement was indicated by F… (full text at CIViC) PMID 29434033 · Zhang et al., 2018 · Open in CIViC	civic
Imatinib	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	4	submitted	EID13008 A 4 yr old boy with AGGF1::PDGFRB Fusion, and Ph-Like B-ALL was refractory to chemotherapy and did not respond to induction therapy. The patient was given imatinib, and within 8 weeks leukemia clearan… (full text at CIViC) PMID 29434033 · Zhang et al., 2018 · Open in CIViC	civic

PDGFRB e6::e112

(oncogenic)

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Oncogenic

Supports Oncogenicity

submitted

EID13007

A 4 yr old boy was diagnosed with precursor B-cell ALL. Patient had normal karyotype. The patient was refractory to prolonged induction therapy. Presence of PDGFRB rearrangement was indicated by F… (full text at CIViC)

PMID 29434033 · Zhang et al., 2018 · Open in CIViC

PDGFRB Fusion2
Erlotinib + Gefitinib + Ibrutinib + VandetanibSubstitutes	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	D	Does Not Support Sensitivity Response	3	submitted	EID13006 Ba/F3 cells with AGGF1:PDGFRb showed IL3 independent growth. Patient derived cells and Ba/F3, both with AGGF1:PDGFRb, were treated with erlotinib, gefitinib, ibrutinib, and vandetanib. IC50 for inhibi… (full text at CIViC) PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC	civic
Crenolanib + Dasatinib + Imatinib + Nilotinib + Ponatinib + Sorafenib + SunitinibSubstitutes	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	4	submitted	EID13005 Primary mononuclear cells from a 4 year old patient with AGGF1:PDGFRb were treated with PDGFRb inhibitors, which resulted in cell death. IC50 for reduction in cell viability were approximately Ponatin… (full text at CIViC) PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC	civic

PDGFRB Fusion2
Dasatinib	Childhood B-cell Acute Lymphoblastic LeukemiaUNRESOLVED	Predictive	C	Supports Sensitivity Response	3	submitted	EID7129 A 14 month old female with normal karyotype B-ALL was found to have an atypical ATF7IP-PDGFRB fusion. At day 19 of VDLP induction, she achieved partial remission with 6.5% lymphoblasts, and a 40 mg/da… (full text at CIViC) PMID 29133777 · Zhang et al., 2017 · Open in CIViC	civic
Bafetinib + Dasatinib + Imatinib + Nilotinib + Ponatinib + RebastinibSubstitutes	Childhood B-cell Acute Lymphoblastic LeukemiaUNRESOLVED	Predictive	D	Supports Sensitivity Response	4	submitted	EID7196 In vitro studies in Ba/F3 murine cells. Cells transduced with tetracycline-inducible ATF7IP-PDGFRB were capable of proliferating in an IL-3-independent manner and had a gene expression pattern overlap… (full text at CIViC) PMID 26703895 · Ishibashi et al., 2016 · Open in CIViC	civic

PDGFRB Fusion2
(oncogenic)	B Acute Lymphoblastic LeukemiaALIAS	Oncogenic	D	Supports Oncogenicity	4	submitted	EID13181 A somatic out-of-frame CD74intr::PDGFRB rearrangement joined CD74 exon 1 to PDGFRB exon 11 and retained 75 bp of CD74 intronic sequence containing a premature stop codon. Rather than producing a conve… (full text at CIViC) PMID 36810896 · Sadras et al., 2023 · Open in CIViC	civic
Dasatinib	B Acute Lymphoblastic LeukemiaALIAS	Predictive	C	Supports Sensitivity Response	3	accepted	EID13182 A 22-month-old patient with high-risk Philadelphia chromosome-like B-cell acute lymphoblastic leukemia harboring CD74intr::PDGFRB had 46.3% residual bone marrow blasts at the end of induction therapy.… (full text at CIViC) PMID 36810896 · Sadras et al., 2023 · Open in CIViC	civic

PDGFRB Fusion8
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	submitted	EID11625 B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 3 patients (ages 6, 14.4, and 19.… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic
Imatinib	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	3	accepted	EID1310 A 10-year-old boy with B-cell acute lymphoblastic leukemia refractory to conventional chemotherapy and harboring an EBF1-PDGFRB fusion responded to imatinib plus induction chemotherapy (vincristine, d… (full text at CIViC) PMID 23835704 · Weston et al., 2013 · Open in CIViC	civic
〃	Childhood B-cell Acute Lymphoblastic LeukemiaUNRESOLVED	Predictive	C	Supports Sensitivity Response	3	accepted	EID6976 A 16-year-old boy with B-cell acute lymphoblastic leukemia refractory to conventional chemotherapy and harboring an IKZF1 deletion (delta 2-7) and a 5q33 microdeletion resulting in an EBF1-PDGFRB fusi… (full text at CIViC) PMID 24186319 · Lengline et al., 2013 · Open in CIViC	civic
〃	Childhood B-cell Acute Lymphoblastic LeukemiaUNRESOLVED	Predictive	C	Supports Sensitivity Response	2	accepted	EID7028 Two patients with EBF1-PDGFRB positive pediatric B-ALL were treated with induction/post-induction therapy and Imatinib. Neither patient experienced disease relapse. One patient died of an undefined en… (full text at CIViC) PMID 26872634 · Schwab et al., 2016 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	2	submitted	EID7127 EBF1-PDGFRB fusion was detected in leukemia cells of a 6 year old male who presented with B-ALL and an initial WBC of 244,400. He received 4-drug induction chemotherapy but failed to enter remission w… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	D	Supports Sensitivity Response	3	submitted	EID12644 In a group of 73 of Dutch and German children with Ph-Like B Cell Precursor ALL, 12 tyrosine kinase-activating fusion genes were found. 4 of the Fusions were EBF1::PDGFRB. Leukemic cells taken from t… (full text at CIViC) Open in CIViC	civic
Chemotherapy + ImatinibCombination	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	3	accepted	EID8260 A 9 year old girl with B-lymphoblastic leukemia/ lymphoma (2016 WHO) relapsed 15 months post-maintenance chemotherapy. FISH and genomic analysis detected the EBF1-PDGFRB fusion (exon 11 with Exon14). … (full text at CIViC) PMID 32068648 · Sakurai et al., 2021 · Open in CIViC	civic
Dasatinib + ImatinibSubstitutes	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	2	accepted	EID7128 The EBF1-PDGFRB fusion was detected in leukemia cells of a 7 year old Latino boy who presented with B-ALL and initial WBC of 600,000. He failed to enter remission with 4 drug induction (90% blasts at … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic

PDGFRB Fusion5
(diagnostic)	Chronic Myelomonocytic Leukemia	Diagnostic	A	Supports Negative	5	accepted	EID1426 The 2016 World Health Organization guidelines for the classification of myeloid malignancies uses the detection of PCM1-JAK2 or rearrangements involving PDGFRA, PDGFRB, or FGFR1 as recommended exclusi… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC	civic
〃	Hematopoietic and Lymphoid Cell NeoplasmALIAS	Diagnostic	A	Supports Positive	5	accepted	EID1434 The 2016 World Health Organization guidelines for the classification of myeloid malignancies and acute leukemia describes a new class of disease defined by myeloid or lymphoid neoplasms associated wit… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	A	Supports Positive	4	submitted	EID7022 This study showed that, when detected in the context of B-cell lymphoblastic leukemia/lymphoma (B-ALL), PDGFRB fusions with different partner genes are associated with Ph-like molecular subtype of B-A… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic
Imatinib	Myeloproliferative NeoplasmCURATED_BROADER	Predictive	A	Supports Sensitivity Response	4	accepted	EID1498 Twelve patients with BCR-ABL-negative chronic myeloproliferative disease and reciprocal translocations involving PDGFRB received imatinib for a median of 47 months (range, 0.1-60 months). Eleven had p… (full text at CIViC) PMID 16960151 · David et al., 2007 · Open in CIViC	civic
〃	Myeloproliferative NeoplasmCURATED_BROADER	Predictive	A	Supports Sensitivity Response	4	submitted	EID11272 In this phase II, open-label, single-arm trial, 106 patients with 40 different malignancies were enrolled (78.5% solid tumours, 21.5% hematologic malignancies), including seven with myeloproliferative… (full text at CIViC) PMID 18451237 · Heinrich et al., 2008 · Open in CIViC	civic