After 95 years, it's time to eRASe JMML.

Animals Epigenesis, Genetic GTP Phosphohydrolases / genetics Gene Expression Regulation, Leukemic Humans Leukemia, Myelomonocytic, Juvenile / genetics Membrane Proteins / genetics Mutation Neurofibromin 1 / genetics Oncogene Protein v-cbl / genetics Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics Proto-Oncogene Proteins p21(ras) / genetics Signal Transduction ras Proteins / genetics
JMML RALD RAS signalling

Journal

Blood reviews
ISSN: 1532-1681
Titre abrégé: Blood Rev
Pays: England
ID NLM: 8708558

Informations de publication

Date de publication:
09 2020
Historique:
received: 21 06 2019
revised: 07 12 2019
accepted: 23 12 2019
pubmed: 26 1 2020
medline: 27 5 2021
entrez: 26 1 2020
Statut: ppublish

Résumé

Juvenile myelomonocytic leukaemia (JMML) is a rare clonal disorder of early childhood. Constitutive activation of the RAS pathway is the initial event in JMML. Around 90% of patients diagnosed with JMML carry a mutation in the PTPN11, NRAS, KRAS, NF1 or CBL genes. It has been demonstrated that after this first genetic event, an additional somatic mutation or epigenetic modification is involved in disease progression. The available genetic and clinical data have enabled researchers to establish relationships between JMML and several clinical conditions, including Noonan syndrome, Ras-associated lymphoproliferative disease, and Moyamoya disease. Despite scientific progress and the development of more effective treatments, JMML is still a deadly disease: the 5-year survival rate is ~50%. Here, we report on recent research having led to a better understanding of the genetic and molecular mechanisms involved in JMML.

Identifiants

DOI: 10.1016/j.blre.2020.100652 PMID: 31980238
pubmed: 31980238
pii: S0268-960X(20)30002-3
doi: 10.1016/j.blre.2020.100652
pii:
doi:

Substances chimiques

KRAS protein, human 0
Membrane Proteins 0
Neurofibromin 1 0
Oncogene Protein v-cbl 0
PTPN11 protein, human EC 3.1.3.48
Protein Tyrosine Phosphatase, Non-Receptor Type 11 EC 3.1.3.48
GTP Phosphohydrolases EC 3.6.1.-
NRAS protein, human EC 3.6.1.-
Proto-Oncogene Proteins p21(ras) EC 3.6.5.2
ras Proteins EC 3.6.5.2

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

100652

Informations de copyright

Copyright © 2020 Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest None.

Auteurs

Sonia Meynier (S)

Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015 Paris, France.

Frédéric Rieux-Laucat (F)

Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015 Paris, France. Electronic address: frederic.rieux-laucat@inserm.fr.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Acid anhydride hydrolases › dGTPases › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Régulation de l'expression des gènes tumoraux › Régulation de l'expression des gènes dans la leucémie › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Maladies myélodysplasiques-myéloprolifératives › Leucémie myélomonocytaire juvénile › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines suppresseurs de tumeurs › Neurofibromine-1 › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéine oncogène v-cbl › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein Tyrosine Phosphatases › SH2 Domain-Containing Protein Tyrosine Phosphatases › Protein Tyrosine Phosphatase, Non-Receptor Type 11 › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Protéines proto-oncogènes p21(ras) › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › After 95 years, it's time to eRASe JMML.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines G › Protéines G monomériques › Protéines G ras › After 95 years, it's time to eRASe JMML.