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PDGFRB Gene Amplification

MedGen UID:
1377079
•Concept ID:
C4330916
•
Cell or Molecular Dysfunction
Synonyms: CD140b Gene Amplification; JTK12 Gene Amplification; PDGFR-1 Gene Amplification; PDGFR1 Gene Amplification; PDGFRB Amplification; PDGFRbeta Gene Amplification; Platelet-Derived Growth Factor Receptor Beta Gene Amplification

Definition

A molecular genetic abnormality indicating the presence of multiple copies of the PDGFRB gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPDGFRB Gene Amplification

Professional guidelines

PubMed

Sustained inhibition of receptor tyrosine kinases and macrophage depletion by PLX3397 and rapamycin as a potential new approach for the treatment of MPNSTs.
Patwardhan PP, Surriga O, Beckman MJ, de Stanchina E, Dematteo RP, Tap WD, Schwartz GK
Clin Cancer Res 2014 Jun 15;20(12):3146-58. Epub 2014 Apr 9 doi: 10.1158/1078-0432.CCR-13-2576. PMID: 24718867Free PMC Article

Recent clinical studies

Etiology

PLCB4 copy gain and PLCß4 overexpression in primary gastrointestinal stromal tumors: Integrative characterization of a lipid-catabolizing enzyme associated with worse disease-free survival.
Li CF, Liu TT, Chuang IC, Chen YY, Fang FM, Chan TC, Li WS, Huang HY
Oncotarget 2017 Mar 21;8(12):19997-20010. doi: 10.18632/oncotarget.15306. PMID: 28212550Free PMC Article
Comprehensive Genomic Profiling of Central Giant Cell Lesions Identifies Clinically Relevant Genomic Alterations.
Bezak B, Lehrke H, Elvin J, Gay L, Schembri-Wismayer D, Viozzi C
J Oral Maxillofac Surg 2017 May;75(5):955-961. Epub 2016 Nov 1 doi: 10.1016/j.joms.2016.10.027. PMID: 27883876
Next-generation sequencing of adrenocortical carcinoma reveals new routes to targeted therapies.
Ross JS, Wang K, Rand JV, Gay L, Presta MJ, Sheehan CE, Ali SM, Elvin JA, Labrecque E, Hiemstra C, Buell J, Otto GA, Yelensky R, Lipson D, Morosini D, Chmielecki J, Miller VA, Stephens PJ
J Clin Pathol 2014 Nov;67(11):968-73. Epub 2014 Jul 30 doi: 10.1136/jclinpath-2014-202514. PMID: 25078331Free PMC Article
Targeting signaling pathways in acute lymphoblastic leukemia: new insights.
Harrison CJ
Hematology Am Soc Hematol Educ Program 2013;2013:118-25. doi: 10.1182/asheducation-2013.1.118. PMID: 24319172
Immunohistochemical overexpression of platelet-derived growth factor receptor-beta (PDGFR-β) is associated with PDGFRB gene copy number gain in sarcomatoid non-small-cell lung cancer.
Tsao AS, Wei W, Kuhn E, Spencer L, Solis LM, Suraokar M, Lee JJ, Hong WK, Wistuba II
Clin Lung Cancer 2011 Nov;12(6):369-74. Epub 2011 May 17 doi: 10.1016/j.cllc.2011.02.002. PMID: 21729646Free PMC Article

Diagnosis

Acute myeloid leukemia with LRRFIP1::FGFR1 rearrangement and a complex karyotype.
Qian YW, Wang ES, Sait SJ, Glenn ST
Cancer Genet 2023 Nov;278-279:50-54. Epub 2023 Aug 15 doi: 10.1016/j.cancergen.2023.08.004. PMID: 37597337
A PDGFRα-driven mouse model of glioblastoma reveals a stathmin1-mediated mechanism of sensitivity to vinblastine.
Jun HJ, Appleman VA, Wu HJ, Rose CM, Pineda JJ, Yeo AT, Delcuze B, Lee C, Gyuris A, Zhu H, Woolfenden S, Bronisz A, Nakano I, Chiocca EA, Bronson RT, Ligon KL, Sarkaria JN, Gygi SP, Michor F, Mitchison TJ, Charest A
Nat Commun 2018 Aug 6;9(1):3116. doi: 10.1038/s41467-018-05036-4. PMID: 30082792Free PMC Article
Next-generation sequencing of adrenocortical carcinoma reveals new routes to targeted therapies.
Ross JS, Wang K, Rand JV, Gay L, Presta MJ, Sheehan CE, Ali SM, Elvin JA, Labrecque E, Hiemstra C, Buell J, Otto GA, Yelensky R, Lipson D, Morosini D, Chmielecki J, Miller VA, Stephens PJ
J Clin Pathol 2014 Nov;67(11):968-73. Epub 2014 Jul 30 doi: 10.1136/jclinpath-2014-202514. PMID: 25078331Free PMC Article
Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.
Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A
Genes Chromosomes Cancer 2014 May;53(5):411-21. doi: 10.1002/gcc.22153. PMID: 24772479
Molecular pathogenesis of pediatric astrocytic tumors.
Nakamura M, Shimada K, Ishida E, Higuchi T, Nakase H, Sakaki T, Konishi N
Neuro Oncol 2007 Apr;9(2):113-23. Epub 2007 Feb 27 doi: 10.1215/15228517-2006-036. PMID: 17327574Free PMC Article

Therapy

Myeloid neoplasm with a novel cryptic PDGFRB rearrangement detected by next-generation sequencing.
Zimmermann N, Nassiri M, Zhou J, Miller AM, Zhang S
Cancer Genet 2020 Jun;244:55-59. Epub 2020 May 3 doi: 10.1016/j.cancergen.2020.03.002. PMID: 32442889
Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1 in three patients with eosinophilia-associated myeloproliferative neoplasms.
Naumann N, Schwaab J, Metzgeroth G, Jawhar M, Haferlach C, Göhring G, Schlegelberger B, Dietz CT, Schnittger S, Lotfi S, Gärtner M, Dang TA, Hofmann WK, Cross NC, Reiter A, Fabarius A
Genes Chromosomes Cancer 2015 Dec;54(12):762-70. Epub 2015 Sep 10 doi: 10.1002/gcc.22287. PMID: 26355392
Next-generation sequencing of adrenocortical carcinoma reveals new routes to targeted therapies.
Ross JS, Wang K, Rand JV, Gay L, Presta MJ, Sheehan CE, Ali SM, Elvin JA, Labrecque E, Hiemstra C, Buell J, Otto GA, Yelensky R, Lipson D, Morosini D, Chmielecki J, Miller VA, Stephens PJ
J Clin Pathol 2014 Nov;67(11):968-73. Epub 2014 Jul 30 doi: 10.1136/jclinpath-2014-202514. PMID: 25078331Free PMC Article
Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.
Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A
Genes Chromosomes Cancer 2014 May;53(5):411-21. doi: 10.1002/gcc.22153. PMID: 24772479
ALK gene aberrations and the JUN/JUNB/PDGFR axis in metastatic NSCLC.
Berghoff AS, Birner P, Streubel B, Kenner L, Preusser M
APMIS 2014 Sep;122(9):867-72. Epub 2014 Apr 3 doi: 10.1111/apm.12249. PMID: 24750504

Prognosis

Myeloid neoplasm with a novel cryptic PDGFRB rearrangement detected by next-generation sequencing.
Zimmermann N, Nassiri M, Zhou J, Miller AM, Zhang S
Cancer Genet 2020 Jun;244:55-59. Epub 2020 May 3 doi: 10.1016/j.cancergen.2020.03.002. PMID: 32442889
Next-generation sequencing of adrenocortical carcinoma reveals new routes to targeted therapies.
Ross JS, Wang K, Rand JV, Gay L, Presta MJ, Sheehan CE, Ali SM, Elvin JA, Labrecque E, Hiemstra C, Buell J, Otto GA, Yelensky R, Lipson D, Morosini D, Chmielecki J, Miller VA, Stephens PJ
J Clin Pathol 2014 Nov;67(11):968-73. Epub 2014 Jul 30 doi: 10.1136/jclinpath-2014-202514. PMID: 25078331Free PMC Article
Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.
Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A
Genes Chromosomes Cancer 2014 May;53(5):411-21. doi: 10.1002/gcc.22153. PMID: 24772479
Targeting signaling pathways in acute lymphoblastic leukemia: new insights.
Harrison CJ
Hematology Am Soc Hematol Educ Program 2013;2013:118-25. doi: 10.1182/asheducation-2013.1.118. PMID: 24319172
Expression of receptor tyrosine kinases in esophageal carcinosarcoma.
Sano A, Sakurai S, Kato H, Suzuki S, Yokobori T, Sakai M, Tanaka N, Inose T, Sohda M, Nakajima M, Fukai Y, Miyazaki T, Ojima H, Hosoya Y, Enomoto T, Kanda T, Ajioka Y, Kuwano H
Oncol Rep 2013 Jun;29(6):2119-26. Epub 2013 Mar 29 doi: 10.3892/or.2013.2371. PMID: 23546020

Clinical prediction guides

Next-generation sequencing of adrenocortical carcinoma reveals new routes to targeted therapies.
Ross JS, Wang K, Rand JV, Gay L, Presta MJ, Sheehan CE, Ali SM, Elvin JA, Labrecque E, Hiemstra C, Buell J, Otto GA, Yelensky R, Lipson D, Morosini D, Chmielecki J, Miller VA, Stephens PJ
J Clin Pathol 2014 Nov;67(11):968-73. Epub 2014 Jul 30 doi: 10.1136/jclinpath-2014-202514. PMID: 25078331Free PMC Article
Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.
Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A
Genes Chromosomes Cancer 2014 May;53(5):411-21. doi: 10.1002/gcc.22153. PMID: 24772479
Expression of receptor tyrosine kinases in esophageal carcinosarcoma.
Sano A, Sakurai S, Kato H, Suzuki S, Yokobori T, Sakai M, Tanaka N, Inose T, Sohda M, Nakajima M, Fukai Y, Miyazaki T, Ojima H, Hosoya Y, Enomoto T, Kanda T, Ajioka Y, Kuwano H
Oncol Rep 2013 Jun;29(6):2119-26. Epub 2013 Mar 29 doi: 10.3892/or.2013.2371. PMID: 23546020
Molecular pathogenesis of pediatric astrocytic tumors.
Nakamura M, Shimada K, Ishida E, Higuchi T, Nakase H, Sakaki T, Konishi N
Neuro Oncol 2007 Apr;9(2):113-23. Epub 2007 Feb 27 doi: 10.1215/15228517-2006-036. PMID: 17327574Free PMC Article
Molecular changes during the genesis of human gliomas.
Sehgal A
Semin Surg Oncol 1998 Jan-Feb;14(1):3-12. doi: 10.1002/(sici)1098-2388(199801/02)14:1<3::aid-ssu2>3.0.co;2-f. PMID: 9407626

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