Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.

Humans Leukemia, Myelomonocytic, Juvenile / genetics Noonan Syndrome / genetics Female Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics Child Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics Myeloproliferative Disorders / genetics Germ-Line Mutation Down Syndrome Leukemoid Reaction
Noonan syndrome PTPN11 mutation acute lymphoblastic leukemia children hematological diseases juvenile myelomonocytic leukemia

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
10 Sep 2024
Historique:
received: 16 08 2024
revised: 05 09 2024
accepted: 06 09 2024
medline: 29 9 2024
pubmed: 28 9 2024
entrez: 28 9 2024
Statut: epublish

Résumé

Noonan syndrome (NS) is an autosomal dominant disorder that varies in severity and can involve multiple organ systems. In approximately 50% of cases, it is caused by missense mutations in the

Identifiants

DOI: 10.3390/genes15091191 PMID: 39336782
pubmed: 39336782
pii: genes15091191
doi: 10.3390/genes15091191
pii:
doi:

Substances chimiques

Protein Tyrosine Phosphatase, Non-Receptor Type 11 EC 3.1.3.48
PTPN11 protein, human EC 3.1.3.48

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Italian Association for Cancer Research
ID : MFAG 2009-2011
Organisme : IBISCUS onlus
ID : 2022-2023

Auteurs

Marta Arrabito (M)

Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.
Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.

Nicolò Li Volsi (N)

Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.
School of Medical Genetics, University of Catania, 95100 Catania, Italy.

Manuela La Rosa (M)

Cytogenetic-Cytofluorimetric-Molecular Biology Lab, Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, Via Santa Sofia 78, 95123 Catania, Italy.

Piera Samperi (P)

Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.

Giulio Pulvirenti (G)

School of Pediatrics, University of Catania, 95100 Catania, Italy.

Emanuela Cannata (E)

Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.
Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.

Giovanna Russo (G)

Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.
Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
School of Pediatrics, University of Catania, 95100 Catania, Italy.
ORCID: 0000-0001-9369-7473

Andrea Di Cataldo (A)

Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.
Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
School of Pediatrics, University of Catania, 95100 Catania, Italy.
ORCID: 0000-0002-4509-3066

Luca Lo Nigro (L)

Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.
Cytogenetic-Cytofluorimetric-Molecular Biology Lab, Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, Via Santa Sofia 78, 95123 Catania, Italy.
ORCID: 0000-0002-2480-1799

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Transient Myeloproliferative Disorder (TMD),...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Maladies myélodysplasiques-myéloprolifératives › Leucémie myélomonocytaire juvénile › Transient Myeloproliferative Disorder (TMD),...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies du tissu conjonctif › Syndrome de Noonan › Transient Myeloproliferative Disorder (TMD),...
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 › Transient Myeloproliferative Disorder (TMD),...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Transient Myeloproliferative Disorder (TMD),...
questionsmedicales.fr › Maladies du système immunitaire › Syndromes immunoprolifératifs › Syndromes lymphoprolifératifs › Leucémie lymphoïde › Leucémie-lymphome lymphoblastique à précurseurs B et T › Transient Myeloproliferative Disorder (TMD),...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myéloprolifératifs › Transient Myeloproliferative Disorder (TMD),...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Transient Myeloproliferative Disorder (TMD),...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Syndrome de Down › Transient Myeloproliferative Disorder (TMD),...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Troubles leucocytaires › Réaction leucémoïde › Transient Myeloproliferative Disorder (TMD),...