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PDGFRA Gene Rearrangement

MedGen UID:
398595
•Concept ID:
C2707644
•
Cell or Molecular Dysfunction
Synonyms: CD140A Gene Rearrangement; PDGFR-2 Gene Rearrangement; PDGFR2 Gene Rearrangement; PDGFRA Rearrangement; PDGFRalpha Gene Rearrangement; Platelet-Derived Growth Factor Receptor Alpha Gene Rearrangement; RHEPDGFRA Gene Rearrangement

Definition

Rearrangement of the PDGFRA gene, resulting in the formation of a fusion transcript and aberrant tyrosine kinase activity. It has been described in hematologic malignancies usually presenting as chronic eosinophilic leukemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPDGFRA Gene Rearrangement

Professional guidelines

PubMed

World Health Organization-defined eosinophilic disorders: 2022 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Myeloid/Lymphoid Neoplasms with Eosinophilia and TK Fusion Genes, Version 3.2021, NCCN Clinical Practice Guidelines in Oncology.
Gerds AT, Gotlib J, Bose P, Deininger MW, Dunbar A, Elshoury A, George TI, Gojo I, Gundabolu K, Hexner E, Hobbs G, Jain T, Jamieson C, Kuykendall AT, McMahon B, Mohan SR, Oehler V, Oh S, Pardanani A, Podoltsev N, Ranheim E, Rein L, Salit R, Snyder DS, Stein BL, Talpaz M, Thota S, Vachhani P, Wadleigh M, Walsh K, Ward DC, Bergman MA, Sundar H
J Natl Compr Canc Netw 2020 Sep;18(9):1248-1269. doi: 10.6004/jnccn.2020.0042. PMID: 32886902
Tyrosine kinase inhibitors in the treatment of systemic mastocytosis.
Ustun C, DeRemer DL, Akin C
Leuk Res 2011 Sep;35(9):1143-52. Epub 2011 Jun 8 doi: 10.1016/j.leukres.2011.05.006. PMID: 21641642

Recent clinical studies

Etiology

SOHO State of the Art Updates and Next Questions | Myeloid/Lymphoid Neoplasms with Eosinophilia and Gene Rearrangements: Diagnostic Pearls and Pitfalls.
Kim AS, Pozdnyakova O
Clin Lymphoma Myeloma Leuk 2022 Sep;22(9):643-651. Epub 2022 Mar 19 doi: 10.1016/j.clml.2022.03.008. PMID: 35478091
World Health Organization-defined eosinophilic disorders: 2022 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Contemporary Classification and Diagnostic Evaluation of Hypereosinophilia.
Mattis DM, Wang SA, Lu CM
Am J Clin Pathol 2020 Aug 5;154(3):305-318. doi: 10.1093/ajcp/aqaa056. PMID: 32525541
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Myeloid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, and FGFR1: a review.
Savage N, George TI, Gotlib J
Int J Lab Hematol 2013 Oct;35(5):491-500. Epub 2013 Mar 13 doi: 10.1111/ijlh.12057. PMID: 23489324

Diagnosis

Updates on eosinophilic disorders.
Tzankov A, Reichard KK, Hasserjian RP, Arber DA, Orazi A, Wang SA
Virchows Arch 2023 Jan;482(1):85-97. Epub 2022 Sep 7 doi: 10.1007/s00428-022-03402-8. PMID: 36068374
World Health Organization-defined eosinophilic disorders: 2022 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Contemporary Classification and Diagnostic Evaluation of Hypereosinophilia.
Mattis DM, Wang SA, Lu CM
Am J Clin Pathol 2020 Aug 5;154(3):305-318. doi: 10.1093/ajcp/aqaa056. PMID: 32525541
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Biomarker-driven diagnosis of diffuse gliomas.
Appin CL, Brat DJ
Mol Aspects Med 2015 Nov;45:87-96. Epub 2015 May 21 doi: 10.1016/j.mam.2015.05.002. PMID: 26004297

Therapy

A rare cause of persistent leukocytosis with massive splenomegaly: Myeloid neoplasm with BCR-PDGFRA rearrangement-Case report and literature review.
Gao L, Xu Y, Weng LC, Tian ZG
Medicine (Baltimore) 2022 Jun 17;101(24):e29179. doi: 10.1097/MD.0000000000029179. PMID: 35713428Free PMC Article
World Health Organization-defined eosinophilic disorders: 2022 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Tyrosine Kinase Inhibitors and Therapeutic Antibodies in Advanced Eosinophilic Disorders and Systemic Mastocytosis.
Gotlib J
Curr Hematol Malig Rep 2015 Dec;10(4):351-61. doi: 10.1007/s11899-015-0280-3. PMID: 26404639
Tyrosine kinase inhibitors in the treatment of systemic mastocytosis.
Ustun C, DeRemer DL, Akin C
Leuk Res 2011 Sep;35(9):1143-52. Epub 2011 Jun 8 doi: 10.1016/j.leukres.2011.05.006. PMID: 21641642

Prognosis

World Health Organization-defined eosinophilic disorders: 2022 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Blood and Bone Marrow Evaluation for Eosinophilia.
Boyer DF
Arch Pathol Lab Med 2016 Oct;140(10):1060-7. doi: 10.5858/arpa.2016-0223-RA. PMID: 27684977
Biomarker-driven diagnosis of diffuse gliomas.
Appin CL, Brat DJ
Mol Aspects Med 2015 Nov;45:87-96. Epub 2015 May 21 doi: 10.1016/j.mam.2015.05.002. PMID: 26004297
Myeloid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, and FGFR1: a review.
Savage N, George TI, Gotlib J
Int J Lab Hematol 2013 Oct;35(5):491-500. Epub 2013 Mar 13 doi: 10.1111/ijlh.12057. PMID: 23489324

Clinical prediction guides

Myeloid/lymphoid neoplasms with FLT3 rearrangement.
Tang G, Tam W, Short NJ, Bose P, Wu D, Hurwitz SN, Bagg A, Rogers HJ, Hsi ED, Quesada AE, Wang W, Miranda RN, Bueso-Ramos CE, Medeiros LJ, Nardi V, Hasserjian RP, Arber DA, Orazi A, Foucar K, Wang SA
Mod Pathol 2021 Sep;34(9):1673-1685. Epub 2021 May 14 doi: 10.1038/s41379-021-00817-7. PMID: 33990705
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Biomarker-driven diagnosis of diffuse gliomas.
Appin CL, Brat DJ
Mol Aspects Med 2015 Nov;45:87-96. Epub 2015 May 21 doi: 10.1016/j.mam.2015.05.002. PMID: 26004297
Diagnostic complexities of eosinophilia.
Montgomery ND, Dunphy CH, Mooberry M, Laramore A, Foster MC, Park SI, Fedoriw YD
Arch Pathol Lab Med 2013 Feb;137(2):259-69. doi: 10.5858/arpa.2011-0597-RA. PMID: 23368869
Molecular characterization of paediatric idiopathic hypereosinophilia.
Rapanotti MC, Caruso R, Ammatuna E, Zaza S, Trotta L, Divona M, Cicconi L, Funaro D, Federici G, Amadori S, De Rossi G, Lo-Coco F
Br J Haematol 2010 Dec;151(5):440-6. Epub 2010 Oct 19 doi: 10.1111/j.1365-2141.2010.08394.x. PMID: 20955401

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