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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
Role of genotype-based approach in the clinical management of adult acute myeloid leukemia with normal cytogenetics.
Cagnetta A, Adamia S, Acharya C, Patrone F, Miglino M, Nencioni A, Gobbi M, Cea M
Leuk Res 2014 Jun;38(6):649-59. Epub 2014 Mar 18 doi: 10.1016/j.leukres.2014.03.006. PMID: 24726781
Impact of karyotype on treatment outcome in acute myeloid leukemia.
Grimwade D, Moorman A, Hills R, Wheatley K, Walker H, Harrison G, Harrison Ch, Goldstone A, Burnett A; NCRI Adult Leukaemia Working Party
Ann Hematol 2004;83 Suppl 1:S45-8. doi: 10.1007/s00277-004-0849-8. PMID: 15124668

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

Molecular cytogenetics in acute myeloid leukemia in adult patients: practical implications.
Mrózek K
Pol Arch Intern Med 2022 Aug 22;132(7-8) Epub 2022 Jul 18 doi: 10.20452/pamw.16300. PMID: 35848612
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
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
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
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

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
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
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

Immunorelated gene polymorphisms associated with acute myeloid leukemia.
Liu Q, Hua M, Yan S, Zhang C, Wang R, Yang X, Han F, Hou M, Ma D
Clin Exp Immunol 2020 Sep;201(3):266-278. Epub 2020 Jun 2 doi: 10.1111/cei.13446. PMID: 32349161Free PMC Article
Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults.
Xie W, Hu S, Xu J, Chen Z, Medeiros LJ, Tang G
Ann Hematol 2019 May;98(5):1149-1157. Epub 2019 Feb 13 doi: 10.1007/s00277-019-03637-7. PMID: 30759270
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
Cytogenetic abnormalities in adult non-promyelocytic acute myeloid leukemia: a concise review.
Marchesi F, Annibali O, Cerchiara E, Tirindelli MC, Avvisati G
Crit Rev Oncol Hematol 2011 Dec;80(3):331-46. Epub 2010 Dec 3 doi: 10.1016/j.critrevonc.2010.11.006. PMID: 21123080
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

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