U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Adult Acute Myeloid Leukemia with Recurrent Genetic Abnormalities

MedGen UID:
389485
•Concept ID:
C2347539
•
Neoplastic Process

Definition

An acute myeloid leukemia with recurrent genetic abnormalities occurring in adults. [from NCI]

Professional guidelines

PubMed

Mechanisms associated with t(7;12) acute myeloid leukaemia: from genetics to potential treatment targets.
Ragusa D, Dijkhuis L, Pina C, Tosi S
Biosci Rep 2023 Jan 31;43(1) doi: 10.1042/BSR20220489. PMID: 36622782Free PMC Article
Current paradigms in the management of Philadelphia chromosome positive acute lymphoblastic leukemia in adults.
El Fakih R, Jabbour E, Ravandi F, Hassanein M, Anjum F, Ahmed S, Kantarjian H
Am J Hematol 2018 Feb;93(2):286-295. Epub 2017 Oct 31 doi: 10.1002/ajh.24926. PMID: 28971501
Monosomal karyotype in adult acute myeloid leukemia: prognostic impact and outcome after different treatment strategies.
Kayser S, Zucknick M, Döhner K, Krauter J, Köhne CH, Horst HA, Held G, von Lilienfeld-Toal M, Wilhelm S, Rummel M, Germing U, Götze K, Nachbaur D, Schlegelberger B, Göhring G, Späth D, Morlok C, Teleanu V, Ganser A, Döhner H, Schlenk RF; German-Austrian AML Study Group
Blood 2012 Jan 12;119(2):551-8. Epub 2011 Nov 16 doi: 10.1182/blood-2011-07-367508. PMID: 22096250

Recent clinical studies

Etiology

The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
A concise review on the molecular genetics of acute myeloid leukemia.
Padmakumar D, Chandraprabha VR, Gopinath P, Vimala Devi ART, Anitha GRJ, Sreelatha MM, Padmakumar A, Sreedharan H
Leuk Res 2021 Dec;111:106727. Epub 2021 Oct 16 doi: 10.1016/j.leukres.2021.106727. PMID: 34700049
Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/KMT2A.
Bill M, Mrózek K, Kohlschmidt J, Eisfeld AK, Walker CJ, Nicolet D, Papaioannou D, Blachly JS, Orwick S, Carroll AJ, Kolitz JE, Powell BL, Stone RM, de la Chapelle A, Byrd JC, Bloomfield CD
Proc Natl Acad Sci U S A 2020 Oct 20;117(42):26340-26346. Epub 2020 Oct 5 doi: 10.1073/pnas.2014732117. PMID: 33020282Free PMC Article
The genomic landscape of core-binding factor acute myeloid leukemias.
Faber ZJ, Chen X, Gedman AL, Boggs K, Cheng J, Ma J, Radtke I, Chao JR, Walsh MP, Song G, Andersson AK, Dang J, Dong L, Liu Y, Huether R, Cai Z, Mulder H, Wu G, Edmonson M, Rusch M, Qu C, Li Y, Vadodaria B, Wang J, Hedlund E, Cao X, Yergeau D, Nakitandwe J, Pounds SB, Shurtleff S, Fulton RS, Fulton LL, Easton J, Parganas E, Pui CH, Rubnitz JE, Ding L, Mardis ER, Wilson RK, Gruber TA, Mullighan CG, Schlenk RF, Paschka P, Döhner K, Döhner H, Bullinger L, Zhang J, Klco JM, Downing JR
Nat Genet 2016 Dec;48(12):1551-1556. Epub 2016 Oct 31 doi: 10.1038/ng.3709. PMID: 27798625Free PMC Article

Diagnosis

The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
The combination of NPM1, DNMT3A, and IDH1/2 mutations leads to inferior overall survival in AML.
Dunlap JB, Leonard J, Rosenberg M, Cook R, Press R, Fan G, Raess PW, Druker BJ, Traer E
Am J Hematol 2019 Aug;94(8):913-920. Epub 2019 Jun 21 doi: 10.1002/ajh.25517. PMID: 31145495Free PMC Article
Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance.
Grimwade D, Ivey A, Huntly BJ
Blood 2016 Jan 7;127(1):29-41. Epub 2015 Dec 10 doi: 10.1182/blood-2015-07-604496. PMID: 26660431Free PMC Article
Acute myeloid leukemia with DNMT3A mutations.
Li Y, Zhu B
Leuk Lymphoma 2014 Sep;55(9):2002-12. Epub 2014 Mar 7 doi: 10.3109/10428194.2013.869802. PMID: 24283755

Therapy

Current status and future perspectives in targeted therapy of NPM1-mutated AML.
Ranieri R, Pianigiani G, Sciabolacci S, Perriello VM, Marra A, Cardinali V, Pierangeli S, Milano F, Gionfriddo I, Brunetti L, Martelli MP, Falini B
Leukemia 2022 Oct;36(10):2351-2367. Epub 2022 Aug 25 doi: 10.1038/s41375-022-01666-2. PMID: 36008542Free PMC Article
Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance.
Grimwade D, Ivey A, Huntly BJ
Blood 2016 Jan 7;127(1):29-41. Epub 2015 Dec 10 doi: 10.1182/blood-2015-07-604496. PMID: 26660431Free PMC Article
Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype.
Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, La Starza R, Diverio D, Colombo E, Santucci A, Bigerna B, Pacini R, Pucciarini A, Liso A, Vignetti M, Fazi P, Meani N, Pettirossi V, Saglio G, Mandelli F, Lo-Coco F, Pelicci PG, Martelli MF; GIMEMA Acute Leukemia Working Party
N Engl J Med 2005 Jan 20;352(3):254-66. doi: 10.1056/NEJMoa041974. PMID: 15659725
HLA-DR antigen-negative acute myeloid leukemia.
Wetzler M, McElwain BK, Stewart CC, Blumenson L, Mortazavi A, Ford LA, Slack JL, Barcos M, Ferrone S, Baer MR
Leukemia 2003 Apr;17(4):707-15. doi: 10.1038/sj.leu.2402865. PMID: 12682628

Prognosis

Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
A concise review on the molecular genetics of acute myeloid leukemia.
Padmakumar D, Chandraprabha VR, Gopinath P, Vimala Devi ART, Anitha GRJ, Sreelatha MM, Padmakumar A, Sreedharan H
Leuk Res 2021 Dec;111:106727. Epub 2021 Oct 16 doi: 10.1016/j.leukres.2021.106727. PMID: 34700049
High IFITM3 expression predicts adverse prognosis in acute myeloid leukemia.
Liu Y, Lu R, Cui W, Pang Y, Liu C, Cui L, Qian T, Quan L, Dai Y, Jiao Y, Pan Y, Ye X, Shi J, Cheng Z, Fu L
Cancer Gene Ther 2020 Feb;27(1-2):38-44. Epub 2019 Mar 29 doi: 10.1038/s41417-019-0093-y. PMID: 30923336
Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance.
Grimwade D, Ivey A, Huntly BJ
Blood 2016 Jan 7;127(1):29-41. Epub 2015 Dec 10 doi: 10.1182/blood-2015-07-604496. PMID: 26660431Free PMC Article
Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype.
Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, La Starza R, Diverio D, Colombo E, Santucci A, Bigerna B, Pacini R, Pucciarini A, Liso A, Vignetti M, Fazi P, Meani N, Pettirossi V, Saglio G, Mandelli F, Lo-Coco F, Pelicci PG, Martelli MF; GIMEMA Acute Leukemia Working Party
N Engl J Med 2005 Jan 20;352(3):254-66. doi: 10.1056/NEJMoa041974. PMID: 15659725

Clinical prediction guides

The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.
Anwar N, Memon FA, Shahid S, Shakeel M, Irfan M, Arshad A, Naz A, Ujjan ID, Shamsi T
BMC Genomics 2021 Dec 16;22(1):903. doi: 10.1186/s12864-021-08221-w. PMID: 34915860Free PMC Article
Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance.
Grimwade D, Ivey A, Huntly BJ
Blood 2016 Jan 7;127(1):29-41. Epub 2015 Dec 10 doi: 10.1182/blood-2015-07-604496. PMID: 26660431Free PMC Article
Genomic Copy Number Variations in the Myelodysplastic Syndrome and Acute Myeloid Leukemia Patients with del(5q) and/or -7/del(7q).
Zhang R, Kim YM, Wang X, Li Y, Lu X, Sternenberger AR, Li S, Lee JY
Int J Med Sci 2015;12(9):719-26. Epub 2015 Sep 1 doi: 10.7150/ijms.12612. PMID: 26392809Free PMC Article
The clinical relevance of Wilms Tumour 1 (WT1) gene mutations in acute leukaemia.
Owen C, Fitzgibbon J, Paschka P
Hematol Oncol 2010 Mar;28(1):13-9. doi: 10.1002/hon.931. PMID: 20013787
Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype.
Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, La Starza R, Diverio D, Colombo E, Santucci A, Bigerna B, Pacini R, Pucciarini A, Liso A, Vignetti M, Fazi P, Meani N, Pettirossi V, Saglio G, Mandelli F, Lo-Coco F, Pelicci PG, Martelli MF; GIMEMA Acute Leukemia Working Party
N Engl J Med 2005 Jan 20;352(3):254-66. doi: 10.1056/NEJMoa041974. PMID: 15659725

Recent systematic reviews

Myeloid neoplasms with t(12;22)(p13;q12)/MN1-EVT6: a systematic review of 12 cases.
Shao H, Cen J, Chen S, Qiu H, Pan J
Ann Hematol 2018 Mar;97(3):417-424. Epub 2017 Dec 22 doi: 10.1007/s00277-017-3208-2. PMID: 29273914
Association between DNMT3A mutations and prognosis of adults with de novo acute myeloid leukemia: a systematic review and meta-analysis.
Tie R, Zhang T, Fu H, Wang L, Wang Y, He Y, Wang B, Zhu N, Fu S, Lai X, Shi J, Huang H
PLoS One 2014;9(6):e93353. Epub 2014 Jun 17 doi: 10.1371/journal.pone.0093353. PMID: 24936645Free PMC Article

Supplemental Content

Table of contents

    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.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...