Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Juvenile myelomonozyäre Leukämie

Die Juvenile myelomonozyäre Leukämie ist ein Erkrankung, die durch Mutationen des NF1-Gens ausgelöst wird. Die Mutationen können somatische oder Keimbahnmutationen sein. Im letzteren Fall erfolgt eine dominante Vererbung.

Gliederung

Hereditäre maligne Bluterkrankungen
Akute myeloische Leukämie
Erbliche Anfälligkeit für akute myeloische Leukämie
Erbliche Anfälligkeit für myelodysplastisches Syndrom
Juvenile myelomonozyäre Leukämie
NF1
Lymphoproliferatives Syndrom
Myelodysplastisches Syndrom
Non-Hodgkin-Lymphom
Noonan-Syndrom ähnliches Krankheitsbild und juvenile myelomonozytische Leukämie
Osteomyelofibrose
Polycythaemia vera
Somatische Erythrozytose

Referenzen:

1.

De Filippi P et al. (2009) Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.

external link
2.

Sakaguchi H et al. (2013) Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

external link
3.

Klinakis A et al. (2011) A novel tumour-suppressor function for the Notch pathway in myeloid leukaemia.

external link
4.

Abdel-Wahab O et al. (2009) Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.

external link
5.

Jankowska AM et al. (2009) Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.

external link
6.

Flotho C et al. (2008) Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations.

external link
7.

Schubbert S et al. (2006) Germline KRAS mutations cause Noonan syndrome.

external link
8.

Jongmans M et al. (2005) Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

external link
9.

Tartaglia M et al. (2003) Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

external link
10.

Magnusson MK et al. (2001) Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia.

external link
11.

Hasle H et al. (1999) Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. European Working Group on MDS in Childhood (EWOG-MDS).

external link
12.

Ross TS et al. (1998) Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2).

external link
13.

Niemeyer CM et al. (1997) Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS)

external link
14.

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

external link
15.

Pathak A et al. (2015) Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.

external link
16.

Pérez B et al. (2010) Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

external link
17.

Muramatsu H et al. (2010) Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.

external link
18.

Loh ML et al. (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

external link
19.

Matsuda K et al. (2007) Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.

external link
20.

OMIM.ORG article

Omim 607785 external link
21.

Orphanet article

Orphanet ID 86834 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz