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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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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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).

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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).

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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)

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

OMIM.ORG article

Omim 607785 external link
21.

Orphanet article

Orphanet ID 86834 external link
Update: 14. August 2020
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