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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, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. This group includes the myeloid and lymphoid neoplasms with t(8;9)(p22;p24.1);PCM1-JAK2 as a provisional entity. [from NCI]

Professional guidelines

PubMed

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
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049

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
Park SY, Lee CJ, Choi JH, Kim JH, Kim JW, Kim JY, Nam JS
J Exp Clin Cancer Res 2019 Sep 11;38(1):399. doi: 10.1186/s13046-019-1405-7. PMID: 31511084Free PMC Article
Tefferi A, Barbui T
Am J Hematol 2019 Jan;94(1):133-143. Epub 2018 Nov 9 doi: 10.1002/ajh.25303. PMID: 30281843
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
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
Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, Futreal PA, Erber WN, McMullin MF, Harrison CN, Warren AJ, Gilliland DG, Lodish HF, Green AR
N Engl J Med 2007 Feb 1;356(5):459-68. doi: 10.1056/NEJMoa065202. PMID: 17267906Free 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
Agashe RP, Lippman SM, Kurzrock R
Mol Cancer Ther 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. PMID: 36252553Free PMC Article
Tremblay D, Mesa R
Future Oncol 2022 Jun;18(20):2559-2571. Epub 2022 May 23 doi: 10.2217/fon-2022-0276. PMID: 35603634

Prognosis

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
Wei C, Yang C, Wang S, Shi D, Zhang C, Lin X, Liu Q, Dou R, Xiong B
Mol Cancer 2019 Mar 30;18(1):64. doi: 10.1186/s12943-019-0976-4. PMID: 30927925Free PMC Article

Clinical prediction guides

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
Guglielmelli P, Vannucchi AM
Blood Rev 2020 Jul;42:100714. Epub 2020 Jun 3 doi: 10.1016/j.blre.2020.100714. PMID: 32546373
Gangat N, Tefferi A
Br J Haematol 2020 Oct;191(2):152-170. Epub 2020 Mar 20 doi: 10.1111/bjh.16576. PMID: 32196650
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

Recent systematic reviews

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
Kołodrubiec J, Kozłowska M, Irga-Jaworska N, Sędek Ł, Pastorczak A, Trelińska J, Młynarski W
Leuk Res 2022 Oct;121:106925. Epub 2022 Aug 2 doi: 10.1016/j.leukres.2022.106925. PMID: 35939887
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

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