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Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

MedGen UID:
417664
Concept ID:
C2827356
Neoplastic Process
Synonyms: Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1; Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1
 
Monarch Initiative: MONDO:0015688
Orphanet: ORPHA168943

Definition

A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, FGFR1, or JAK2 genes, resulting in the formation of tyrosine kinase fusion transcripts. Eosinophilia is a characteristic finding but it is not always present. [from NCI]

Professional guidelines

PubMed

Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Tefferi A, Barbui T
Am J Hematol 2023 Sep;98(9):1465-1487. Epub 2023 Jun 26 doi: 10.1002/ajh.27002. PMID: 37357958
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511

Curated

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

Recent clinical studies

Etiology

Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Gangat N, Szuber N, Pardanani A, Tefferi A
Leukemia 2021 Aug;35(8):2166-2181. Epub 2021 May 21 doi: 10.1038/s41375-021-01290-6. PMID: 34021251Free PMC Article
Tashi T, Swierczek S, Prchal JT
Curr Hematol Malig Rep 2017 Oct;12(5):442-447. doi: 10.1007/s11899-017-0414-x. PMID: 29027642
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
Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R
N Engl J Med 2013 Dec 19;369(25):2379-90. Epub 2013 Dec 10 doi: 10.1056/NEJMoa1311347. PMID: 24325356

Diagnosis

Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Nie S, Zhang L, Liu J, Wan Y, Jiang Y, Yang J, Sun R, Ma X, Sun G, Meng H, Xu M, Cheng W
J Exp Clin Cancer Res 2021 Sep 8;40(1):284. doi: 10.1186/s13046-021-02088-1. PMID: 34496932Free PMC Article
Spivak JL
Curr Treat Options Oncol 2018 Mar 7;19(2):12. doi: 10.1007/s11864-018-0529-x. PMID: 29516275
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
Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG, Aziz A, Godfrey AL, Hinton J, Martincorena I, Van Loo P, Jones AV, Guglielmelli P, Tarpey P, Harding HP, Fitzpatrick JD, Goudie CT, Ortmann CA, Loughran SJ, Raine K, Jones DR, Butler AP, Teague JW, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du MQ, Greaves M, Bowen D, Huntly BJP, Harrison CN, Cross NCP, Ron D, Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR
N Engl J Med 2013 Dec 19;369(25):2391-2405. Epub 2013 Dec 10 doi: 10.1056/NEJMoa1312542. PMID: 24325359Free PMC Article

Therapy

Freitas E, Guttman-Yassky E, Torres T
Drugs 2023 Jun;83(9):761-770. Epub 2023 May 17 doi: 10.1007/s40265-023-01873-w. PMID: 37195491Free PMC Article
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Rosmarin D, Passeron T, Pandya AG, Grimes P, Harris JE, Desai SR, Lebwohl M, Ruer-Mulard M, Seneschal J, Wolkerstorfer A, Kornacki D, Sun K, Butler K, Ezzedine K; TRuE-V Study Group
N Engl J Med 2022 Oct 20;387(16):1445-1455. doi: 10.1056/NEJMoa2118828. PMID: 36260792
Tremblay D, Mesa R
Future Oncol 2022 Jun;18(20):2559-2571. Epub 2022 May 23 doi: 10.2217/fon-2022-0276. PMID: 35603634
Barbui T, Tefferi A, Vannucchi AM, Passamonti F, Silver RT, Hoffman R, Verstovsek S, Mesa R, Kiladjian JJ, Hehlmann R, Reiter A, Cervantes F, Harrison C, Mc Mullin MF, Hasselbalch HC, Koschmieder S, Marchetti M, Bacigalupo A, Finazzi G, Kroeger N, Griesshammer M, Birgegard G, Barosi G
Leukemia 2018 May;32(5):1057-1069. Epub 2018 Feb 27 doi: 10.1038/s41375-018-0077-1. PMID: 29515238Free PMC Article

Prognosis

Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Hu F, Song D, Yan Y, Huang C, Shen C, Lan J, Chen Y, Liu A, Wu Q, Sun L, Xu F, Hu F, Chen L, Luo X, Feng Y, Huang S, Hu J, Wang G
Nat Commun 2021 Jun 15;12(1):3651. doi: 10.1038/s41467-021-23923-1. PMID: 34131122Free PMC Article
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939

Clinical prediction guides

Yu Z, Fidler TP, Ruan Y, Vlasschaert C, Nakao T, Uddin MM, Mack T, Niroula A, Heimlich JB, Zekavat SM, Gibson CJ, Griffin GK, Wang Y, Peloso GM, Heard-Costa N, Levy D, Vasan RS, Aguet F, Ardlie KG, Taylor KD, Rich SS, Rotter JI, Libby P, Jaiswal S, Ebert BL, Bick AG, Tall AR, Natarajan P
J Clin Invest 2023 Sep 15;133(18) doi: 10.1172/JCI168597. PMID: 37498674Free PMC Article
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Gangat N, Tefferi A
Br J Haematol 2020 Oct;191(2):152-170. Epub 2020 Mar 20 doi: 10.1111/bjh.16576. PMID: 32196650
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

Recent systematic reviews

Husein-ElAhmed H, Husein-ElAhmed S
J Eur Acad Dermatol Venereol 2024 May;38(5):835-843. Epub 2024 Jan 26 doi: 10.1111/jdv.19797. PMID: 38279559
Martinez J, Manjaly C, Manjaly P, Ly S, Zhou G, Barbieri J, Mostaghimi A
JAMA Dermatol 2023 Dec 1;159(12):1339-1345. doi: 10.1001/jamadermatol.2023.3830. PMID: 37851459Free PMC Article
Chen B, Ning K, Sun ML, Zhang XA
Cell Commun Signal 2023 Apr 3;21(1):67. doi: 10.1186/s12964-023-01094-4. PMID: 37013568Free PMC Article
Shojaei-Zarghani S, Rafraf M, Yari-Khosroushahi A
Phytother Res 2021 Sep;35(9):4782-4794. Epub 2021 Apr 23 doi: 10.1002/ptr.7110. PMID: 33891786
DeFilippis EM, Feldman SR, Huang WW
Br J Dermatol 2015 Jun;172(6):1487-1497. Epub 2015 Feb 27 doi: 10.1111/bjd.13493. PMID: 25350484

Supplemental Content

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    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.

    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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