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Myeloid neoplasm associated with PDGFRA rearrangement

MedGen UID:
1620600
Concept ID:
C4545381
Neoplastic Process
Synonym: Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
SNOMED CT: Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement (738527001); Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement (738527001)
 
Monarch Initiative: MONDO:0015689
Orphanet: ORPHA168947

Definition

A rare malignant neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid neoplasm associated with PDGFRA rearrangement

Professional guidelines

Recent clinical studies

Etiology

Bellani V, Croci GA, Bucelli C, Maronese CA, Alberti S, Iurlo A, Cattaneo D
J Dermatol 2023 Oct;50(10):1330-1334. Epub 2023 May 30 doi: 10.1111/1346-8138.16836. PMID: 37248740
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
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
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
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

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
Shallis RM, Siddon AJ, Zeidan AM
Curr Hematol Malig Rep 2021 Jun;16(3):276-285. Epub 2021 Apr 22 doi: 10.1007/s11899-021-00632-6. PMID: 33890194
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
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
Vega F, Medeiros LJ, Bueso-Ramos CE, Arboleda P, Miranda RN
Am J Clin Pathol 2015 Sep;144(3):377-92. doi: 10.1309/AJCPMORR5Z2IKCEM. PMID: 26276769

Therapy

Bellani V, Croci GA, Bucelli C, Maronese CA, Alberti S, Iurlo A, Cattaneo D
J Dermatol 2023 Oct;50(10):1330-1334. Epub 2023 May 30 doi: 10.1111/1346-8138.16836. PMID: 37248740
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
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
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
Lierman E, Cools J
Expert Rev Anticancer Ther 2009 Sep;9(9):1295-304. doi: 10.1586/era.09.82. PMID: 19761433

Prognosis

Bellani V, Croci GA, Bucelli C, Maronese CA, Alberti S, Iurlo A, Cattaneo D
J Dermatol 2023 Oct;50(10):1330-1334. Epub 2023 May 30 doi: 10.1111/1346-8138.16836. PMID: 37248740
Shallis RM, Siddon AJ, Zeidan AM
Curr Hematol Malig Rep 2021 Jun;16(3):276-285. Epub 2021 Apr 22 doi: 10.1007/s11899-021-00632-6. PMID: 33890194
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
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
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

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
Shallis RM, Siddon AJ, Zeidan AM
Curr Hematol Malig Rep 2021 Jun;16(3):276-285. Epub 2021 Apr 22 doi: 10.1007/s11899-021-00632-6. PMID: 33890194
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
McDermott U, Ames RY, Iafrate AJ, Maheswaran S, Stubbs H, Greninger P, McCutcheon K, Milano R, Tam A, Lee DY, Lucien L, Brannigan BW, Ulkus LE, Ma XJ, Erlander MG, Haber DA, Sharma SV, Settleman J
Cancer Res 2009 May 1;69(9):3937-46. Epub 2009 Apr 14 doi: 10.1158/0008-5472.CAN-08-4327. PMID: 19366796Free PMC Article
Pardanani A, Tefferi A
Curr Hematol Malig Rep 2008 Jan;3(1):37-43. doi: 10.1007/s11899-008-0007-9. PMID: 20425445

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