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Myeloid neoplasm associated with PDGFRB rearrangement

MedGen UID:
758646
Concept ID:
C3472621
Neoplastic Process
Synonym: Myeloid neoplasms associated with PDGFRB rearrangement
SNOMED CT: Myeloid neoplasm associated with beta-type platelet-derived growth factor receptor gene rearrangement (724642009); Myeloid neoplasm associated with PDGFRB rearrangement (724642009); Myeloid/lymphoid neoplasm with PDGFRB rearrangement (1251587000); Myeloid-lymphoid neoplasm with PDGFRB rearrangement (1251587000)
 
Monarch Initiative: MONDO:0015690
Orphanet: ORPHA168950

Definition

A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid neoplasm associated with PDGFRB rearrangement
Follow this link to review classifications for Myeloid neoplasm associated with PDGFRB rearrangement in Orphanet.

Recent clinical studies

Etiology

Shomali W, Gotlib J
Am J Hematol 2024 May;99(5):946-968. Epub 2024 Mar 29 doi: 10.1002/ajh.27287. PMID: 38551368
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

Shomali W, Gotlib J
Am J Hematol 2024 May;99(5):946-968. Epub 2024 Mar 29 doi: 10.1002/ajh.27287. PMID: 38551368
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
Di Giacomo D, Quintini M, Pierini V, Pellanera F, La Starza R, Gorello P, Matteucci C, Crescenzi B, Fiumara PF, Veltroni M, Borlenghi E, Albano F, Forghieri F, Maccaferri M, Bettelli F, Luppi M, Cuneo A, Rossi G, Mecucci C
Ann Hematol 2022 Feb;101(2):297-307. Epub 2021 Dec 2 doi: 10.1007/s00277-021-04712-8. PMID: 34859285Free PMC Article
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

Therapy

Wang Z, Liu T, Liu W, Gao X, Wan L, Qiu S, Song Y, Gu R, Tian Z, Wang M, Wang J, Mi Y, Wei S
Cancer Gene Ther 2023 Nov;30(11):1471-1484. Epub 2023 Aug 7 doi: 10.1038/s41417-023-00651-w. PMID: 37550570
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Yamazaki M, Nakaseko C, Takeuchi M, Ozawa S, Ishizuka Y, Hatanaka Y, Oshima-Hasegawa N, Muto T, Tsukamoto S, Mitsukawa S, Ohwada C, Takeda Y, Mimura N, Iseki T, Fukazawa M, Sakaida E
Intern Med 2019 Dec 1;58(23):3449-3453. Epub 2019 Jul 22 doi: 10.2169/internalmedicine.3220-19. PMID: 31327842Free PMC Article
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
Tefferi A, Patnaik MM, Pardanani A
Br J Haematol 2006 Jun;133(5):468-92. doi: 10.1111/j.1365-2141.2006.06038.x. PMID: 16681635

Prognosis

Shomali W, Gotlib J
Am J Hematol 2024 May;99(5):946-968. Epub 2024 Mar 29 doi: 10.1002/ajh.27287. PMID: 38551368
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
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
Wlodarska I, Mecucci C, Baens M, Marynen P, van den Berghe H
Leuk Lymphoma 1996 Oct;23(3-4):287-95. doi: 10.3109/10428199609054831. PMID: 9031109

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions, 2023

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