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AML - Acute myeloid leukemia(AML)

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
Synonyms: Acute granulocytic leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; AML; AML adult; Familial Acute Myelocytic Leukemia; Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA; Leukemia, acute myelogenous; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid; Leukemia, acute myeloid, somatic
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Acute myeloid leukemia (91861009); Acute non-lymphocytic leukemia (17788007); Acute myeloid leukemia (413443009); AML - Acute myeloblastic leukemia (91861009); Acute myeloid leukemia - category (413443009); Acute myeloid leukemia, no ICD-O subtype (17788007); Acute myelocytic leukemia (91861009); Acute myeloid leukemia, no International Classification of Diseases for Oncology subtype (17788007); Acute myeloid leukemia (17788007); Acute granulocytic leukemia (17788007); Acute myelogenous leukemia (17788007); Acute myeloblastic leukemia (17788007); Acute myelocytic leukemia (17788007); AML - Acute myeloid leukemia (91861009); Acute myeloid leukemia, disease (91861009)
 
Gene (location): CEBPA (19q13.11)
OMIM®: 601626
Orphanet: ORPHA519

Disease characteristics

Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA mutation is present in a family in which multiple individuals have AML. In contrast, sporadic AML with mutated CEBPA is defined as AML in which a CEBPA mutation is identified in somatic (i.e., leukemic) cells but not in germline (i.e., non-leukemic) cells. Too few persons with familial AML with mutated CEBPA have been reported to be certain about the natural history of the disease. The age of onset of familial AML with mutated CEBPA appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age four years and older than age 50 years. The prognosis of individuals with familial AML with mutated CEBPA appears to be favorable (~50%-65% overall survival) compared to the ~25%-40% overall survival of those who have normal karyotype AML but no germline CEPBA mutation. Individuals with familial AML with mutated CEBPA who have been cured of their initial disease may be at greater risk of developing additional malignant clones than persons with sporadic disease. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Roger D Klein  |  Guido Marcucci   view full author information

Additional description

From GHR
Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets. People with familial acute myeloid leukemia with mutated CEBPA have a shortage of white blood cells (leukopenia), leading to increased susceptibility to infections. A low number of red blood cells (anemia) also occurs in this disorder, resulting in fatigue and weakness. Affected individuals also have a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. Other symptoms of familial acute myeloid leukemia with mutated CEBPA may include fever and weight loss. While acute myeloid leukemia is generally a disease of older adults, familial acute myeloid leukemia with mutated CEBPA often begins earlier in life, and it has been reported to occur as early as age 4. Between 50 and 65 percent of affected individuals survive their disease, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia. However, people with familial acute myeloid leukemia with mutated CEBPA have a higher risk of having a new primary occurrence of this disorder after successful treatment of the initial occurrence.  http://ghr.nlm.nih.gov/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa

Clinical features

Acute myeloid leukemia
MedGen UID:
505691
Concept ID:
CN004254
Finding
A form of leukemia characterized by overproduction of an early myeloid cell.
Acute myeloid leukemia
MedGen UID:
505691
Concept ID:
CN004254
Finding
A form of leukemia characterized by overproduction of an early myeloid cell.
Acute myeloid leukemia
MedGen UID:
505691
Concept ID:
CN004254
Finding
A form of leukemia characterized by overproduction of an early myeloid cell.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGAML - Acute myeloid leukemia

Professional guidelines

PubMed

Fey MF, Buske C; ESMO Guidelines Working Group
Ann Oncol 2013 Oct;24 Suppl 6:vi138-43. Epub 2013 Aug 22 doi: 10.1093/annonc/mdt320. [Epub ahead of print] PMID: 23970018
Febbo PG, Ladanyi M, Aldape KD, De Marzo AM, Hammond ME, Hayes DF, Iafrate AJ, Kelley RK, Marcucci G, Ogino S, Pao W, Sgroi DC, Birkeland ML
J Natl Compr Canc Netw 2011 Nov;9 Suppl 5:S1-32; quiz S33. PMID: 22138009

Recent clinical studies

Etiology

Seca H, Lima RT, Almeida GM, Sobrinho-Simoes M, Bergantim R, Guimaraes JE, Vasconcelos MH
Curr Pharm Biotechnol 2014;15(5):492-502. PMID: 24846063
Guida M, Maraldi T, Beretti F, Follo MY, Manzoli L, De Pol A
Biomed Res Int 2014;2014:456937. Epub 2014 Feb 26 doi: 10.1155/2014/456937. PMID: 24719867Free PMC Article
McCoyd M, Gruener G, Foy P
Handb Clin Neurol 2014;120:1027-43. doi: 10.1016/B978-0-7020-4087-0.00069-3. PMID: 24365369
Ciufu C, Arama V, Bumbea H, Dobrea C, Ion I, Vladareanu AM
J Med Life 2013;6(4):464-71. Epub 2013 Dec 25 PMID: 24868264Free PMC Article
Couto AC, Ferreira JD, Rosa AC, Pombo-de-Oliveira MS, Koifman S; Brazilian Collaborative Study Group of Infant Acute Leukemia
Chem Biol Interact 2013 Sep 5;205(1):46-52. Epub 2013 Jun 6 doi: 10.1016/j.cbi.2013.05.012. [Epub ahead of print] PMID: 23747844

Diagnosis

McCoyd M, Gruener G, Foy P
Handb Clin Neurol 2014;120:1027-43. doi: 10.1016/B978-0-7020-4087-0.00069-3. PMID: 24365369
Ciufu C, Arama V, Bumbea H, Dobrea C, Ion I, Vladareanu AM
J Med Life 2013;6(4):464-71. Epub 2013 Dec 25 PMID: 24868264Free PMC Article
Görg C, Weide R, Schwerk WB, Köppler H, Havemann K
J Clin Ultrasound 1994 Nov-Dec;22(9):525-9. PMID: 7806659

Therapy

Couto AC, Ferreira JD, Rosa AC, Pombo-de-Oliveira MS, Koifman S; Brazilian Collaborative Study Group of Infant Acute Leukemia
Chem Biol Interact 2013 Sep 5;205(1):46-52. Epub 2013 Jun 6 doi: 10.1016/j.cbi.2013.05.012. [Epub ahead of print] PMID: 23747844
Bagley RG, Kurtzberg L, Weber W, Nguyen TH, Roth S, Krumbholz R, Yao M, Richards B, Zhang M, Pechan P, Schmid S, Scaria A, Kaplan J, Teicher BA
Mol Cancer Ther 2011 Mar;10(3):404-15. Epub 2011 Jan 20 doi: 10.1158/1535-7163.MCT-10-0813. [Epub ahead of print] PMID: 21252283
El-Shemy HA, Aboul-Enein AM, Aboul-Enein KM, Fujita K
PLoS One 2007 Jan 31;2(1):e178. doi: 10.1371/journal.pone.0000178. [Epub ahead of print] PMID: 17264881Free PMC Article

Prognosis

Shahab S, Shamsi T, Ahmed N
Asian Pac J Cancer Prev 2012;13(9):4215-20. PMID: 23167317
Müller P, Asher N, Heled M, Cohen SB, Risch A, Rund D
Leuk Res 2008 Jun;32(6):919-29. Epub 2008 Jan 18 doi: 10.1016/j.leukres.2007.10.011. [Epub ahead of print] PMID: 18207572

Clinical prediction guides

Seca H, Lima RT, Almeida GM, Sobrinho-Simoes M, Bergantim R, Guimaraes JE, Vasconcelos MH
Curr Pharm Biotechnol 2014;15(5):492-502. PMID: 24846063
Guida M, Maraldi T, Beretti F, Follo MY, Manzoli L, De Pol A
Biomed Res Int 2014;2014:456937. Epub 2014 Feb 26 doi: 10.1155/2014/456937. PMID: 24719867Free PMC Article
Couto AC, Ferreira JD, Rosa AC, Pombo-de-Oliveira MS, Koifman S; Brazilian Collaborative Study Group of Infant Acute Leukemia
Chem Biol Interact 2013 Sep 5;205(1):46-52. Epub 2013 Jun 6 doi: 10.1016/j.cbi.2013.05.012. [Epub ahead of print] PMID: 23747844
Schnetzke U, Fischer M, Kuhn AK, Spies-Weisshart B, Zirm E, Hochhaus A, Müller JP, Scholl S
J Cancer Res Clin Oncol 2013 Apr;139(4):605-15. Epub 2012 Dec 21 doi: 10.1007/s00432-012-1362-4. [Epub ahead of print] PMID: 23263202
Bagley RG, Kurtzberg L, Weber W, Nguyen TH, Roth S, Krumbholz R, Yao M, Richards B, Zhang M, Pechan P, Schmid S, Scaria A, Kaplan J, Teicher BA
Mol Cancer Ther 2011 Mar;10(3):404-15. Epub 2011 Jan 20 doi: 10.1158/1535-7163.MCT-10-0813. [Epub ahead of print] PMID: 21252283

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