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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
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
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939

Recent clinical studies

Etiology

Mullally A, Hood J, Harrison C, Mesa R
Blood Adv 2020 Apr 28;4(8):1792-1800. doi: 10.1182/bloodadvances.2019000954. PMID: 32343799Free 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
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

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
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

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
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
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

Prognosis

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
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
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

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
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
Tefferi A, Pardanani A
JAMA Oncol 2015 Apr;1(1):97-105. doi: 10.1001/jamaoncol.2015.89. PMID: 26182311

Recent systematic reviews

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
Nowakowska MK, Kim T, Thompson MT, Bolton KL, Deswal A, Lin SH, Scheet P, Wehner MR, Nead KT
Am J Hematol 2022 Apr;97(4):411-420. Epub 2022 Jan 19 doi: 10.1002/ajh.26465. PMID: 35015316Free 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
Lussana F, Cattaneo M, Rambaldi A, Squizzato A
Am J Hematol 2018 Mar;93(3):339-347. Epub 2017 Dec 4 doi: 10.1002/ajh.24976. PMID: 29150886
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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