Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
Erbliche Anfälligkeit für akute myeloische Leukämie
Erbliche Anfälligkeit für myelodysplastisches Syndrom
Juvenile myelomonozyäre Leukämie
NF1

Referenzen:

1.

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

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2.

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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3.

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

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4.

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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5.

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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6.

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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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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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.

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

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18.

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

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19.

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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