Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Erbliche Anfälligkeit für akute myeloische Leukämie

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

Gliederung

Hereditäre maligne Bluterkrankungen
Erbliche Anfälligkeit für akute myeloische Leukämie
GATA2
Erbliche Anfälligkeit für myelodysplastisches Syndrom
Juvenile myelomonozyäre Leukämie

Referenzen:

1.

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

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2.

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

[^]
3.

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.

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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.

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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.

[^]
22.

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

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]
26.

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

[^]
27.

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

[^]
28.

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

[^]
29.

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

[^]
30.

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.

[^]
31.

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

[^]
32.

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

[^]
33.

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

[^]
34.

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

[^]
35.

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

[^]
36.

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

[^]
37.

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

[^]
38.

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

[^]
39.

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

[^]
40.

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

[^]
41.

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

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