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Myeloid or lymphoid neoplasm with alpha-type platelet-derived growth factor receptor gene rearrangement

MedGen UID:
415978
Concept ID:
C2827360
Neoplastic Process
Synonyms: M/LN-eo with PDGFRA Rearrangement; Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement; Myeloid or lymphoid neoplasm with PDGFRA rearrangement; Myeloid-lymphoid neoplasm with PDGFRA rearrangement; Myeloid/lymphoid neoplasm with PDGFRA rearrangement; Myeloid/Lymphoid Neoplasm with PDGFRA Rearrangement; Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement
SNOMED CT: Myeloid or lymphoid neoplasm with alpha-type platelet-derived growth factor receptor gene rearrangement (450940003); Myeloid or lymphoid neoplasm with PDGFRA rearrangement (450940003); Myeloid/lymphoid neoplasm with PDGFRA rearrangement (450940003); Myeloid-lymphoid neoplasm with PDGFRA rearrangement (450940003)

Definition

Hematologic neoplasms characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. Patients usually present with chronic eosinophilic leukemia, and less often with acute myeloid leukemia or T-lymphoblastic leukemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid or lymphoid neoplasm with alpha-type platelet-derived growth factor receptor gene rearrangement

Professional guidelines

PubMed

Sekeres MA, Taylor J
JAMA 2022 Sep 6;328(9):872-880. doi: 10.1001/jama.2022.14578. PMID: 36066514
Almond LM, Charalampakis M, Ford SJ, Gourevitch D, Desai A
Clin Lymphoma Myeloma Leuk 2017 May;17(5):263-267. Epub 2017 Mar 7 doi: 10.1016/j.clml.2017.02.027. PMID: 28342811
Ilyas SI, Gores GJ
Gastroenterology 2013 Dec;145(6):1215-29. Epub 2013 Oct 15 doi: 10.1053/j.gastro.2013.10.013. PMID: 24140396Free PMC Article

Recent clinical studies

Etiology

Kayser S, Levis MJ
Haematologica 2023 Feb 1;108(2):308-320. doi: 10.3324/haematol.2022.280801. PMID: 36722402Free PMC Article
Shimony S, Stahl M, Stone RM
Am J Hematol 2023 Mar;98(3):502-526. Epub 2023 Jan 13 doi: 10.1002/ajh.26822. PMID: 36594187
Stubbins RJ, Francis A, Kuchenbauer F, Sanford D
Curr Oncol 2022 Aug 30;29(9):6245-6259. doi: 10.3390/curroncol29090491. PMID: 36135060Free PMC Article
Almond LM, Charalampakis M, Ford SJ, Gourevitch D, Desai A
Clin Lymphoma Myeloma Leuk 2017 May;17(5):263-267. Epub 2017 Mar 7 doi: 10.1016/j.clml.2017.02.027. PMID: 28342811
De Kouchkovsky I, Abdul-Hay M
Blood Cancer J 2016 Jul 1;6(7):e441. doi: 10.1038/bcj.2016.50. PMID: 27367478Free PMC Article

Diagnosis

Kayser S, Levis MJ
Haematologica 2023 Feb 1;108(2):308-320. doi: 10.3324/haematol.2022.280801. PMID: 36722402Free PMC Article
Pelcovits A, Niroula R
R I Med J (2013) 2020 Apr 1;103(3):38-40. PMID: 32236160
Shallis RM, Wang R, Davidoff A, Ma X, Zeidan AM
Blood Rev 2019 Jul;36:70-87. Epub 2019 Apr 29 doi: 10.1016/j.blre.2019.04.005. PMID: 31101526
Almond LM, Charalampakis M, Ford SJ, Gourevitch D, Desai A
Clin Lymphoma Myeloma Leuk 2017 May;17(5):263-267. Epub 2017 Mar 7 doi: 10.1016/j.clml.2017.02.027. PMID: 28342811
De Kouchkovsky I, Abdul-Hay M
Blood Cancer J 2016 Jul 1;6(7):e441. doi: 10.1038/bcj.2016.50. PMID: 27367478Free PMC Article

Therapy

Döhner H, Pratz KW, DiNardo CD, Wei AH, Jonas BA, Pullarkat VA, Thirman MJ, Récher C, Schuh AC, Babu S, Li X, Ku G, Liu Z, Sun Y, Potluri J, Dail M, Chyla B, Pollyea DA
Blood 2024 Nov 21;144(21):2211-2222. doi: 10.1182/blood.2024024944. PMID: 39133921Free PMC Article
Lim J, Auerbach M, MacLean B, Al-Sharea A, Richards T
Curr Oncol 2023 Aug 24;30(9):7836-7851. doi: 10.3390/curroncol30090569. PMID: 37754484Free PMC Article
Pollyea DA, Pratz KW, Wei AH, Pullarkat V, Jonas BA, Recher C, Babu S, Schuh AC, Dail M, Sun Y, Potluri J, Chyla B, DiNardo CD
Clin Cancer Res 2022 Dec 15;28(24):5272-5279. doi: 10.1158/1078-0432.CCR-22-1183. PMID: 36007102Free PMC Article
Zhu AX, Abbas AR, de Galarreta MR, Guan Y, Lu S, Koeppen H, Zhang W, Hsu CH, He AR, Ryoo BY, Yau T, Kaseb AO, Burgoyne AM, Dayyani F, Spahn J, Verret W, Finn RS, Toh HC, Lujambio A, Wang Y
Nat Med 2022 Aug;28(8):1599-1611. Epub 2022 Jun 23 doi: 10.1038/s41591-022-01868-2. PMID: 35739268
Cheson BD, Bennett JM, Kopecky KJ, Büchner T, Willman CL, Estey EH, Schiffer CA, Doehner H, Tallman MS, Lister TA, Lo-Coco F, Willemze R, Biondi A, Hiddemann W, Larson RA, Löwenberg B, Sanz MA, Head DR, Ohno R, Bloomfield CD; International Working Group for Diagnosis, Standardization of Response Criteria, Treatment Outcomes, and Reporting Standards for Therapeutic Trials in Acute Myeloid Leukemia
J Clin Oncol 2003 Dec 15;21(24):4642-9. doi: 10.1200/JCO.2003.04.036. PMID: 14673054

Prognosis

Schneider CV, Schneider KM, Teumer A, Rudolph KL, Hartmann D, Rader DJ, Strnad P
JAMA Intern Med 2022 Mar 1;182(3):291-300. doi: 10.1001/jamainternmed.2021.7804. PMID: 35040871Free PMC Article
DiNardo CD, Pratz K, Pullarkat V, Jonas BA, Arellano M, Becker PS, Frankfurt O, Konopleva M, Wei AH, Kantarjian HM, Xu T, Hong WJ, Chyla B, Potluri J, Pollyea DA, Letai A
Blood 2019 Jan 3;133(1):7-17. Epub 2018 Oct 25 doi: 10.1182/blood-2018-08-868752. PMID: 30361262Free PMC Article
Ilyas SI, Gores GJ
Gastroenterology 2013 Dec;145(6):1215-29. Epub 2013 Oct 15 doi: 10.1053/j.gastro.2013.10.013. PMID: 24140396Free PMC Article
Deschler B, Lübbert M
Cancer 2006 Nov 1;107(9):2099-107. doi: 10.1002/cncr.22233. PMID: 17019734
Davila ML
Curr Opin Gastroenterol 2006 Jan;22(1):44-7. doi: 10.1097/01.mog.0000198073.14169.3b. PMID: 16319675

Clinical prediction guides

Fu D, Zhang B, Wu S, Zhang Y, Xie J, Ning W, Jiang H
Front Immunol 2021;12:695865. Epub 2021 May 31 doi: 10.3389/fimmu.2021.695865. PMID: 34135913Free PMC Article
Asnafi AA, Deris Zayeri Z, Shahrabi S, Zibara K, Vosughi T
J Cell Physiol 2019 May;234(5):5798-5806. Epub 2018 Nov 14 doi: 10.1002/jcp.27505. PMID: 30430567
Nazha A
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):270-276. doi: 10.1182/asheducation-2018.1.270. PMID: 30504321Free PMC Article
Oldenhuis CN, Oosting SF, Gietema JA, de Vries EG
Eur J Cancer 2008 May;44(7):946-53. Epub 2008 Apr 7 doi: 10.1016/j.ejca.2008.03.006. PMID: 18396036
Golub TR, Slonim DK, Tamayo P, Huard C, Gaasenbeek M, Mesirov JP, Coller H, Loh ML, Downing JR, Caligiuri MA, Bloomfield CD, Lander ES
Science 1999 Oct 15;286(5439):531-7. doi: 10.1126/science.286.5439.531. PMID: 10521349

Recent systematic reviews

Kintossou AK, Blanco-Lopez J, Iguacel I, Pisanu S, Almeida CCB, Steliarova-Foucher E, Sierens C, Gunter MJ, Ladas EJ, Barr RD, Van Herck K, Kozlakidis Z, Huybrechts I
Nutrients 2023 Aug 29;15(17) doi: 10.3390/nu15173775. PMID: 37686807Free PMC Article
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
Stemler J, de Jonge N, Skoetz N, Sinkó J, Brüggemann RJ, Busca A, Ben-Ami R, Ráčil Z, Piechotta V, Lewis R, Cornely OA
Lancet Haematol 2022 May;9(5):e361-e373. doi: 10.1016/S2352-3026(22)00073-4. PMID: 35483397
Pollakova D, Andreadi A, Pacifici F, Della-Morte D, Lauro D, Tubili C
Nutrients 2021 Jun 21;13(6) doi: 10.3390/nu13062123. PMID: 34205679Free PMC Article
Smith TJ, Bohlke K, Lyman GH, Carson KR, Crawford J, Cross SJ, Goldberg JM, Khatcheressian JL, Leighl NB, Perkins CL, Somlo G, Wade JL, Wozniak AJ, Armitage JO; American Society of Clinical Oncology
J Clin Oncol 2015 Oct 1;33(28):3199-212. Epub 2015 Jul 13 doi: 10.1200/JCO.2015.62.3488. PMID: 26169616

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