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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
Outcome of patients with distinct molecular genotypes and cytogenetically normal AML after allogeneic transplantation.
Schmid C, Labopin M, Socié G, Daguindau E, Volin L, Huynh A, Bourhis JH, Milpied N, Cornelissen J, Chevallier P, Maertens J, Jindra P, Blaise D, Lenhoff S, Ifrah N, Baron F, Ciceri F, Gorin C, Savani B, Giebel S, Polge E, Esteve J, Nagler A, Mohty M; Acute Leukemia Working Party of the European Group of Blood and Bone Marrow Transplantation
Blood 2015 Oct 22;126(17):2062-9. Epub 2015 Sep 8 doi: 10.1182/blood-2015-06-651562. PMID: 26351297
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

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
Clinical Implication of DNMT3A and TET2 Genes Mutations in Cytogenetically Normal Acute Myeloid Leukemia.
Aref S, Sallam N, Abd Elaziz S, Salama O, Al Ashwah S, Ayed M
Asian Pac J Cancer Prev 2022 Dec 1;23(12):4299-4305. doi: 10.31557/APJCP.2022.23.12.4299. PMID: 36580013Free PMC Article
Revealing key lncRNAs in cytogenetically normal acute myeloid leukemia by reconstruction of the lncRNA-miRNA-mRNA network.
Sun T, Dong L, Guo Y, Zhao H, Wang M
Sci Rep 2022 Mar 23;12(1):4973. doi: 10.1038/s41598-022-08930-6. PMID: 35322118Free PMC Article
Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia.
Walker CJ, Kohlschmidt J, Eisfeld AK, Mrózek K, Liyanarachchi S, Song C, Nicolet D, Blachly JS, Bill M, Papaioannou D, Oakes CC, Giacopelli B, Genutis LK, Maharry SE, Orwick S, Archer KJ, Powell BL, Kolitz JE, Uy GL, Wang ES, Carroll AJ, Stone RM, Byrd JC, de la Chapelle A, Bloomfield CD
Clin Cancer Res 2019 Nov 1;25(21):6524-6531. Epub 2019 Aug 2 doi: 10.1158/1078-0432.CCR-19-0725. PMID: 31375516Free PMC Article
Integrative prognostic risk score in acute myeloid leukemia with normal karyotype.
Damm F, Heuser M, Morgan M, Wagner K, Görlich K, Grosshennig A, Hamwi I, Thol F, Surdziel E, Fiedler W, Lübbert M, Kanz L, Reuter C, Heil G, Delwel R, Löwenberg B, Valk PJ, Krauter J, Ganser A
Blood 2011 Apr 28;117(17):4561-8. Epub 2011 Mar 3 doi: 10.1182/blood-2010-08-303479. PMID: 21372155

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
Clinical Implication of DNMT3A and TET2 Genes Mutations in Cytogenetically Normal Acute Myeloid Leukemia.
Aref S, Sallam N, Abd Elaziz S, Salama O, Al Ashwah S, Ayed M
Asian Pac J Cancer Prev 2022 Dec 1;23(12):4299-4305. doi: 10.31557/APJCP.2022.23.12.4299. PMID: 36580013Free PMC Article
Clinical and functional significance of circular RNAs in cytogenetically normal AML.
Papaioannou D, Volinia S, Nicolet D, Świerniak M, Petri A, Mrózek K, Bill M, Pepe F, Walker CJ, Walker AE, Carroll AJ, Kohlschmidt J, Eisfeld AK, Powell BL, Uy GL, Kolitz JE, Wang ES, Kauppinen S, Dorrance A, Stone RM, Byrd JC, Bloomfield CD, Garzon R
Blood Adv 2020 Jan 28;4(2):239-251. doi: 10.1182/bloodadvances.2019000568. PMID: 31945158Free PMC Article
Gene and protein analysis reveals that p53 pathway is functionally inactivated in cytogenetically normal Acute Myeloid Leukemia and Acute Promyelocytic Leukemia.
Abramowitz J, Neuman T, Perlman R, Ben-Yehuda D
BMC Med Genomics 2017 Mar 24;10(1):18. doi: 10.1186/s12920-017-0249-2. PMID: 28340577Free PMC Article
Integrative prognostic risk score in acute myeloid leukemia with normal karyotype.
Damm F, Heuser M, Morgan M, Wagner K, Görlich K, Grosshennig A, Hamwi I, Thol F, Surdziel E, Fiedler W, Lübbert M, Kanz L, Reuter C, Heil G, Delwel R, Löwenberg B, Valk PJ, Krauter J, Ganser A
Blood 2011 Apr 28;117(17):4561-8. Epub 2011 Mar 3 doi: 10.1182/blood-2010-08-303479. PMID: 21372155

Therapy

Allogeneic hematopoietic stem cell transplantation could improve survival of cytogenetically normal adult acute myeloid leukemia patients with DNMT3A mutations.
Xu Y, Sun Y, Shen H, Ding L, Yang Z, Qiu H, Sun A, Chen S, Wu D
Am J Hematol 2015 Nov;90(11):992-7. doi: 10.1002/ajh.24135. PMID: 26223865
Prognostic and biologic significance of DNMT3B expression in older patients with cytogenetically normal primary acute myeloid leukemia.
Niederwieser C, Kohlschmidt J, Volinia S, Whitman SP, Metzeler KH, Eisfeld AK, Maharry K, Yan P, Frankhouser D, Becker H, Schwind S, Carroll AJ, Nicolet D, Mendler JH, Curfman JP, Wu YZ, Baer MR, Powell BL, Kolitz JE, Moore JO, Carter TH, Bundschuh R, Larson RA, Stone RM, Mrózek K, Marcucci G, Bloomfield CD
Leukemia 2015 Mar;29(3):567-75. Epub 2014 Sep 10 doi: 10.1038/leu.2014.267. PMID: 25204569Free PMC Article
Combined molecular and clinical prognostic index for relapse and survival in cytogenetically normal acute myeloid leukemia.
Pastore F, Dufour A, Benthaus T, Metzeler KH, Maharry KS, Schneider S, Ksienzyk B, Mellert G, Zellmeier E, Kakadia PM, Unterhalt M, Feuring-Buske M, Buske C, Braess J, Sauerland MC, Heinecke A, Krug U, Berdel WE, Buechner T, Woermann B, Hiddemann W, Bohlander SK, Marcucci G, Spiekermann K, Bloomfield CD, Hoster E
J Clin Oncol 2014 May 20;32(15):1586-94. Epub 2014 Apr 7 doi: 10.1200/JCO.2013.52.3480. PMID: 24711548Free PMC Article
Clinical role of microRNAs in cytogenetically normal acute myeloid leukemia: miR-155 upregulation independently identifies high-risk patients.
Marcucci G, Maharry KS, Metzeler KH, Volinia S, Wu YZ, Mrózek K, Nicolet D, Kohlschmidt J, Whitman SP, Mendler JH, Schwind S, Becker H, Eisfeld AK, Carroll AJ, Powell BL, Kolitz JE, Garzon R, Caligiuri MA, Stone RM, Bloomfield CD
J Clin Oncol 2013 Jun 10;31(17):2086-93. Epub 2013 May 6 doi: 10.1200/JCO.2012.45.6228. PMID: 23650424Free PMC Article
Integrative prognostic risk score in acute myeloid leukemia with normal karyotype.
Damm F, Heuser M, Morgan M, Wagner K, Görlich K, Grosshennig A, Hamwi I, Thol F, Surdziel E, Fiedler W, Lübbert M, Kanz L, Reuter C, Heil G, Delwel R, Löwenberg B, Valk PJ, Krauter J, Ganser A
Blood 2011 Apr 28;117(17):4561-8. Epub 2011 Mar 3 doi: 10.1182/blood-2010-08-303479. PMID: 21372155

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
Clinical Implication of DNMT3A and TET2 Genes Mutations in Cytogenetically Normal Acute Myeloid Leukemia.
Aref S, Sallam N, Abd Elaziz S, Salama O, Al Ashwah S, Ayed M
Asian Pac J Cancer Prev 2022 Dec 1;23(12):4299-4305. doi: 10.31557/APJCP.2022.23.12.4299. PMID: 36580013Free PMC Article
Revealing key lncRNAs in cytogenetically normal acute myeloid leukemia by reconstruction of the lncRNA-miRNA-mRNA network.
Sun T, Dong L, Guo Y, Zhao H, Wang M
Sci Rep 2022 Mar 23;12(1):4973. doi: 10.1038/s41598-022-08930-6. PMID: 35322118Free PMC Article
Clinical and functional significance of circular RNAs in cytogenetically normal AML.
Papaioannou D, Volinia S, Nicolet D, Świerniak M, Petri A, Mrózek K, Bill M, Pepe F, Walker CJ, Walker AE, Carroll AJ, Kohlschmidt J, Eisfeld AK, Powell BL, Uy GL, Kolitz JE, Wang ES, Kauppinen S, Dorrance A, Stone RM, Byrd JC, Bloomfield CD, Garzon R
Blood Adv 2020 Jan 28;4(2):239-251. doi: 10.1182/bloodadvances.2019000568. PMID: 31945158Free PMC Article
Mutation profile and associated clinical features in Chinese patients with cytogenetically normal acute myeloid leukemia.
Wang S, Zhang YX, Huang T, Sui JN, Lu J, Chen XJ, Wang KK, Xi XD, Li JM, Huang JY, Chen B
Int J Lab Hematol 2018 Aug;40(4):408-418. Epub 2018 Mar 24 doi: 10.1111/ijlh.12802. PMID: 29573577

Clinical prediction guides

Prognostic impact of PRDM16 expression in acute myeloid leukemia with normal cytogenetics.
Xiang X, Lu Q, Xu X, Cai P, Chen S, Pan J, Zeng Z
Hematology 2022 Dec;27(1):499-505. doi: 10.1080/16078454.2022.2066306. PMID: 35473465
Higher Expression of WT1 With Lower CD58 Expression may be Biomarkers for Risk Stratification of Patients With Cytogenetically Normal Acute Myeloid Leukemia.
Chen C, Chen Z, Chio CL, Zhao Y, Li Y, Liu Z, Jin Z, Wu X, Wei W, Zhao Q, Li Y
Technol Cancer Res Treat 2021 Jan-Dec;20:15330338211052152. doi: 10.1177/15330338211052152. PMID: 34738847Free PMC Article
Clinical significance of FLT3-ITD/CEBPA mutations and minimal residual disease in cytogenetically normal acute myeloid leukemia after hematopoietic stem cell transplantation.
Wang H, Li XQ, Chu TT, Han SY, Qi JQ, Tang YQ, Qiu HY, Fu CC, Tang XW, Ruan CG, Wu DP, Han Y
J Cancer Res Clin Oncol 2021 Sep;147(9):2659-2670. Epub 2021 Feb 7 doi: 10.1007/s00432-021-03530-9. PMID: 33550446
Prognostic and biologic significance of DNMT3B expression in older patients with cytogenetically normal primary acute myeloid leukemia.
Niederwieser C, Kohlschmidt J, Volinia S, Whitman SP, Metzeler KH, Eisfeld AK, Maharry K, Yan P, Frankhouser D, Becker H, Schwind S, Carroll AJ, Nicolet D, Mendler JH, Curfman JP, Wu YZ, Baer MR, Powell BL, Kolitz JE, Moore JO, Carter TH, Bundschuh R, Larson RA, Stone RM, Mrózek K, Marcucci G, Bloomfield CD
Leukemia 2015 Mar;29(3):567-75. Epub 2014 Sep 10 doi: 10.1038/leu.2014.267. PMID: 25204569Free PMC Article
Integrative prognostic risk score in acute myeloid leukemia with normal karyotype.
Damm F, Heuser M, Morgan M, Wagner K, Görlich K, Grosshennig A, Hamwi I, Thol F, Surdziel E, Fiedler W, Lübbert M, Kanz L, Reuter C, Heil G, Delwel R, Löwenberg B, Valk PJ, Krauter J, Ganser A
Blood 2011 Apr 28;117(17):4561-8. Epub 2011 Mar 3 doi: 10.1182/blood-2010-08-303479. PMID: 21372155

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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