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Cytogenetically Normal Acute Myeloid Leukemia

MedGen UID:
825713
•Concept ID:
C3839868
•
Neoplastic Process
Synonyms: Acute myeloid leukemia with normal karyotype; Cytogenetically normal acute myeloid leukemia; Normal karyotype acute myeloid leukemia; Normal Karyotype Acute Myeloid Leukemia
SNOMED CT: Normal karyotype acute myeloid leukemia (703387000); Cytogenetically normal acute myeloid leukemia (703387000); Acute myeloid leukemia with normal karyotype (703387000)

Definition

Acute myeloid leukemia not associated with cytogenetic abnormalities. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCytogenetically Normal Acute Myeloid Leukemia

Professional guidelines

PubMed

Impact of genomics in the clinical management of patients with cytogenetically normal acute myeloid leukemia.
Falini B, Martelli MP
Best Pract Res Clin Haematol 2015 Jun-Sep;28(2-3):90-7. Epub 2015 Oct 22 doi: 10.1016/j.beha.2015.10.005. PMID: 26590764
Management of patients with cytogenetically normal acute myeloid leukemia who have neither favorable nor unfavorable markers.
Walker AR, Marcucci G
J Natl Compr Canc Netw 2014 Apr;12(4):527-34. doi: 10.6004/jnccn.2014.0057. PMID: 24717571
Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia.
Schlenk RF, Döhner K, Krauter J, Fröhling S, Corbacioglu A, Bullinger L, Habdank M, Späth D, Morgan M, Benner A, Schlegelberger B, Heil G, Ganser A, Döhner H; German-Austrian Acute Myeloid Leukemia Study Group
N Engl J Med 2008 May 1;358(18):1909-18. doi: 10.1056/NEJMoa074306. PMID: 18450602

Recent clinical studies

Etiology

Cytogenetically Normal Acute Myeloid Leukaemia at a Single Centre in South Africa.
Jenkins N, Blanshard LA, Stone M, Verburgh E, Oosthuizen J, Shires K
Hematol Oncol Stem Cell Ther 2023 May 23;16(4):397-406. doi: 10.56875/2589-0646.1087. PMID: 37363984
Molecular profiling of patients with cytogenetically normal acute myeloid leukemia and hyperleukocytosis.
Pastore F, Pastore A, Rothenberg-Thurley M, Metzeler KH, Ksienzyk B, Schneider S, Bohlander SK, Braess J, Sauerland MC, Görlich D, Berdel WE, Wörmann B, von Bergwelt-Baildon MS, Hiddemann W, Spiekermann K
Cancer 2022 Dec 15;128(24):4213-4222. Epub 2022 Oct 22 doi: 10.1002/cncr.34495. PMID: 36271776
Management of patients with cytogenetically normal acute myeloid leukemia who have neither favorable nor unfavorable markers.
Walker AR, Marcucci G
J Natl Compr Canc Netw 2014 Apr;12(4):527-34. doi: 10.6004/jnccn.2014.0057. PMID: 24717571
Molecular prognostic factors in cytogenetically normal acute myeloid leukemia.
Walker A, Marcucci G
Expert Rev Hematol 2012 Oct;5(5):547-58. doi: 10.1586/ehm.12.45. PMID: 23146058Free PMC Article
IDH mutations in acute myeloid leukemia.
Rakheja D, Konoplev S, Medeiros LJ, Chen W
Hum Pathol 2012 Oct;43(10):1541-51. Epub 2012 Aug 20 doi: 10.1016/j.humpath.2012.05.003. PMID: 22917530

Diagnosis

Cytogenetically Normal Acute Myeloid Leukaemia at a Single Centre in South Africa.
Jenkins N, Blanshard LA, Stone M, Verburgh E, Oosthuizen J, Shires K
Hematol Oncol Stem Cell Ther 2023 May 23;16(4):397-406. doi: 10.56875/2589-0646.1087. PMID: 37363984
Molecular profiling of patients with cytogenetically normal acute myeloid leukemia and hyperleukocytosis.
Pastore F, Pastore A, Rothenberg-Thurley M, Metzeler KH, Ksienzyk B, Schneider S, Bohlander SK, Braess J, Sauerland MC, Görlich D, Berdel WE, Wörmann B, von Bergwelt-Baildon MS, Hiddemann W, Spiekermann K
Cancer 2022 Dec 15;128(24):4213-4222. Epub 2022 Oct 22 doi: 10.1002/cncr.34495. PMID: 36271776
Impact of genomics in the clinical management of patients with cytogenetically normal acute myeloid leukemia.
Falini B, Martelli MP
Best Pract Res Clin Haematol 2015 Jun-Sep;28(2-3):90-7. Epub 2015 Oct 22 doi: 10.1016/j.beha.2015.10.005. PMID: 26590764
Management of patients with cytogenetically normal acute myeloid leukemia who have neither favorable nor unfavorable markers.
Walker AR, Marcucci G
J Natl Compr Canc Netw 2014 Apr;12(4):527-34. doi: 10.6004/jnccn.2014.0057. PMID: 24717571
Prognostically important molecular markers in cytogenetically normal acute myeloid leukemia.
Lin TL, Smith BD
Am J Med Sci 2011 May;341(5):404-8. doi: 10.1097/MAJ.0b013e318201109d. PMID: 21522052Free PMC Article

Therapy

Successful Treatment of Cytogenetically Normal Acute Myeloid Leukemia With Ten-Eleven Translocation 2-Isocitrate Dehydrogenase 2 and Additional Sex Comb-like 1-Nucleophosmin Co-mutations by HLA Haploidentical Stem Cell Transplantation: A Case Report and Literature Review.
Liu Y, Cao Y, Lin Y, Dong WM, Lin RR, Gu Q, Xie XB, Gu WY
Transplant Proc 2018 Apr;50(3):959-963. doi: 10.1016/j.transproceed.2018.01.003. PMID: 29661468
E-26 Transformation-specific Related Gene Expression and Outcomes in Cytogenetically Normal Acute Myeloid Leukemia: A Meta-analysis.
Fang JF, Yuan HN, Song YF, Sun PB, Zheng XL, Wang XJ
Chin Med J (Engl) 2017 Jun 20;130(12):1481-1490. doi: 10.4103/0366-6999.207474. PMID: 28584213Free PMC Article
Hh/Gli antagonist in acute myeloid leukemia with CBFA2T3-GLIS2 fusion gene.
Masetti R, Bertuccio SN, Astolfi A, Chiarini F, Lonetti A, Indio V, De Luca M, Bandini J, Serravalle S, Franzoni M, Pigazzi M, Martelli AM, Basso G, Locatelli F, Pession A
J Hematol Oncol 2017 Jan 21;10(1):26. doi: 10.1186/s13045-017-0396-0. PMID: 28109323Free PMC Article
Impact of genomics in the clinical management of patients with cytogenetically normal acute myeloid leukemia.
Falini B, Martelli MP
Best Pract Res Clin Haematol 2015 Jun-Sep;28(2-3):90-7. Epub 2015 Oct 22 doi: 10.1016/j.beha.2015.10.005. PMID: 26590764
HOXA/PBX3 knockdown impairs growth and sensitizes cytogenetically normal acute myeloid leukemia cells to chemotherapy.
Dickson GJ, Liberante FG, Kettyle LM, O'Hagan KA, Finnegan DP, Bullinger L, Geerts D, McMullin MF, Lappin TR, Mills KI, Thompson A
Haematologica 2013 Aug;98(8):1216-25. Epub 2013 Mar 28 doi: 10.3324/haematol.2012.079012. PMID: 23539541Free PMC Article

Prognosis

Cytogenetically Normal Acute Myeloid Leukaemia at a Single Centre in South Africa.
Jenkins N, Blanshard LA, Stone M, Verburgh E, Oosthuizen J, Shires K
Hematol Oncol Stem Cell Ther 2023 May 23;16(4):397-406. doi: 10.56875/2589-0646.1087. PMID: 37363984
Molecular profiling of patients with cytogenetically normal acute myeloid leukemia and hyperleukocytosis.
Pastore F, Pastore A, Rothenberg-Thurley M, Metzeler KH, Ksienzyk B, Schneider S, Bohlander SK, Braess J, Sauerland MC, Görlich D, Berdel WE, Wörmann B, von Bergwelt-Baildon MS, Hiddemann W, Spiekermann K
Cancer 2022 Dec 15;128(24):4213-4222. Epub 2022 Oct 22 doi: 10.1002/cncr.34495. PMID: 36271776
E-26 Transformation-specific Related Gene Expression and Outcomes in Cytogenetically Normal Acute Myeloid Leukemia: A Meta-analysis.
Fang JF, Yuan HN, Song YF, Sun PB, Zheng XL, Wang XJ
Chin Med J (Engl) 2017 Jun 20;130(12):1481-1490. doi: 10.4103/0366-6999.207474. PMID: 28584213Free PMC Article
Impact of genomics in the clinical management of patients with cytogenetically normal acute myeloid leukemia.
Falini B, Martelli MP
Best Pract Res Clin Haematol 2015 Jun-Sep;28(2-3):90-7. Epub 2015 Oct 22 doi: 10.1016/j.beha.2015.10.005. PMID: 26590764
Molecular prognostic factors in cytogenetically normal acute myeloid leukemia.
Walker A, Marcucci G
Expert Rev Hematol 2012 Oct;5(5):547-58. doi: 10.1586/ehm.12.45. PMID: 23146058Free PMC Article

Clinical prediction guides

Molecular profiling of patients with cytogenetically normal acute myeloid leukemia and hyperleukocytosis.
Pastore F, Pastore A, Rothenberg-Thurley M, Metzeler KH, Ksienzyk B, Schneider S, Bohlander SK, Braess J, Sauerland MC, Görlich D, Berdel WE, Wörmann B, von Bergwelt-Baildon MS, Hiddemann W, Spiekermann K
Cancer 2022 Dec 15;128(24):4213-4222. Epub 2022 Oct 22 doi: 10.1002/cncr.34495. PMID: 36271776
Gene expression signature predicts relapse in adult patients with cytogenetically normal acute myeloid leukemia.
Walker CJ, Mrózek K, Ozer HG, Nicolet D, Kohlschmidt J, Papaioannou D, Genutis LK, Bill M, Powell BL, Uy GL, Kolitz JE, Carroll AJ, Stone RM, Garzon R, Byrd JC, Eisfeld AK, de la Chapelle A, Bloomfield CD
Blood Adv 2021 Mar 9;5(5):1474-1482. doi: 10.1182/bloodadvances.2020003727. PMID: 33683341Free PMC Article
Molecular prognostic factors in cytogenetically normal acute myeloid leukemia.
Walker A, Marcucci G
Expert Rev Hematol 2012 Oct;5(5):547-58. doi: 10.1586/ehm.12.45. PMID: 23146058Free PMC Article
IDH mutations in acute myeloid leukemia.
Rakheja D, Konoplev S, Medeiros LJ, Chen W
Hum Pathol 2012 Oct;43(10):1541-51. Epub 2012 Aug 20 doi: 10.1016/j.humpath.2012.05.003. PMID: 22917530
The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate.
Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA, Cross JR, Fantin VR, Hedvat CV, Perl AE, Rabinowitz JD, Carroll M, Su SM, Sharp KA, Levine RL, Thompson CB
Cancer Cell 2010 Mar 16;17(3):225-34. Epub 2010 Feb 18 doi: 10.1016/j.ccr.2010.01.020. PMID: 20171147Free PMC Article

Recent systematic reviews

E-26 Transformation-specific Related Gene Expression and Outcomes in Cytogenetically Normal Acute Myeloid Leukemia: A Meta-analysis.
Fang JF, Yuan HN, Song YF, Sun PB, Zheng XL, Wang XJ
Chin Med J (Engl) 2017 Jun 20;130(12):1481-1490. doi: 10.4103/0366-6999.207474. PMID: 28584213Free PMC Article

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