Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary malign blood disorders

Hereditary malign blood disorders is a goup of genetic disorder that result in an higher probability of blood cancer.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
Disorders of cobalamin metabolism
Familial erythrocytosis 2
Hereditary bleeding disorders
Hereditary malign blood disorders
Acute myeloid leukemia
JAK2
Juvenile myelomonocytic leukemia
NF1
Myelodysplastic syndrome
ASXL1
Myelofibrosis
JAK2
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
CBL
Polycythemia vera
JAK2
Somatic erythrocytosis
JAK2
Susceptibility to acute myeloid leukemia
GATA2
Susceptibility to myelodysplastic syndrome
GATA2
Inheritable platelet disorders
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
Thromboembolic diseases

References:

1.

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

[^]
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.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
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.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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.

[^]
22.

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

[^]
23.

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

[^]
24.

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.

[^]
25.

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

[^]
26.

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

[^]
27.

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

[^]
28.

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

[^]
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.

[^]
Update: Sept. 26, 2018