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Erbliche Anfälligkeit für akute myeloische Leukämie

Die erbliche Anfälligkeit für akute myeloische Leukämie wird durch heterozygote GATA2-Mutationen vermittelt.

Gliederung

Hereditäre maligne Bluterkrankungen
Akute myeloische Leukämie
Erbliche Anfälligkeit für akute myeloische Leukämie
GATA2
Erbliche Anfälligkeit für myelodysplastisches Syndrom
Juvenile myelomonozyäre Leukämie
Lymphoproliferatives Syndrom
Myelodysplastisches Syndrom
Non-Hodgkin-Lymphom
Noonan-Syndrom ähnliches Krankheitsbild und juvenile myelomonozytische Leukämie
Osteomyelofibrose
Polycythaemia vera
Somatische Erythrozytose

Referenzen:

1.

Boissel N et al. (2011) Differential prognosis impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia.

external link
2.

Jin L et al. (2006) Targeting of CD44 eradicates human acute myeloid leukemic stem cells.

external link
3.

Mullican SE et al. (2007) Abrogation of nuclear receptors Nr4a3 and Nr4a1 leads to development of acute myeloid leukemia.

external link
4.

Gale RE et al. (2008) The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia.

external link
5.

Garzon R et al. (2008) Distinctive microRNA signature of acute myeloid leukemia bearing cytoplasmic mutated nucleophosmin.

external link
6.

Schlenk RF et al. (2008) Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia.

external link
7.

Calado RT et al. (2009) Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.

external link
8.

Delhommeau F et al. (2009) Mutation in TET2 in myeloid cancers.

external link
9.

Garzon R et al. (2009) MicroRNA 29b functions in acute myeloid leukemia.

external link
10.

Marcucci G et al. (2010) IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study.

external link
11.

Harutyunyan A et al. (2011) p53 lesions in leukemic transformation.

external link
12.

Smith ML et al. (2004) Mutation of CEBPA in familial acute myeloid leukemia.

external link
13.

Ding L et al. (2012) Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.

external link
14.

Smith CC et al. (2012) Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia.

external link
15.

Venstrom JM et al. (2012) HLA-C-dependent prevention of leukemia relapse by donor activating KIR2DS1.

external link
16.

Santos MA et al. (2014) DNA-damage-induced differentiation of leukaemic cells as an anti-cancer barrier.

external link
17.

Wong TN et al. (2015) Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

external link
18.

Illendula A et al. (2015) Chemical biology. A small-molecule inhibitor of the aberrant transcription factor CBFβ-SMMHC delays leukemia in mice.

external link
19.

Fong CY et al. (2015) BET inhibitor resistance emerges from leukaemia stem cells.

external link
20.

Rathert P et al. (2015) Transcriptional plasticity promotes primary and acquired resistance to BET inhibition.

external link
21.

Ivey A et al. (2016) Assessment of Minimal Residual Disease in Standard-Risk AML.

external link
22.

Grisendi S et al. (2005) NPM mutations in acute myelogenous leukemia.

external link
23.

Kode A et al. (2014) Leukaemogenesis induced by an activating β-catenin mutation in osteoblasts.

external link
24.

Matsunaga T et al. (2003) Interaction between leukemic-cell VLA-4 and stromal fibronectin is a decisive factor for minimal residual disease of acute myelogenous leukemia.

external link
25.

Hahn CN et al. (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

external link
26.

Mardis ER et al. (2009) Recurring mutations found by sequencing an acute myeloid leukemia genome.

external link
27.

et al. (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

external link
28.

Miller CA et al. (2013) Genomic landscapes and clonality of de novo AML.

external link
29.

Brewin J et al. (2013) Genomic landscapes and clonality of de novo AML.

external link
30.

Le Beau MM et al. (1993) Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases.

external link
31.

Lee JW et al. (2006) The JAK2 V617F mutation in de novo acute myelogenous leukemias.

external link
32.

Shlush LI et al. (2014) Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia.

external link
33.

Gelsi-Boyer V et al. (2009) Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.

external link
34.

Carbuccia N et al. (2009) Mutations of ASXL1 gene in myeloproliferative neoplasms.

external link
35.

Horwitz M et al. (1996) A family inheriting different subtypes of acute myelogenous leukemia.

external link
36.

Horwitz M et al. (1996) Anticipation in familial leukemia.

external link
37.

Bollag G et al. (1996) Biochemical characterization of a novel KRAS insertion mutation from a human leukemia.

external link
38.

Horwitz M et al. (1997) Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.

external link
39.

Shields JA et al. (2003) Bilateral orbital myeloid sarcoma as initial sign of acute myeloid leukemia: case report and review of the literature.

external link
40.

Falini B et al. (2005) Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype.

external link
41.

Barjesteh van Waalwijk van Doorn-Khosrovani S et al. (2005) Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia.

external link
42.

OMIM.ORG article

Omim 601626 external link
Update: 14. August 2020
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