Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.

doi:10.3324/haematol.2023.283917

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.

Haematologica - 1 Aug 2024

Arfeuille Chloé, Vial Yoann, Cadenet Margaux, Caye-Eude Aurélie, Fenneteau Odile, Neven Quentin, Bonnard Adeline A, Pizzi Simone, Carpentieri Giovanna, Capri Yline, Girardi Katia, Pedace Lucia, Macchiaiolo Marina, Boudhar Kamel, Khaled Monia Ben, Chahla Wadih Abou, Lutun Anne, Fahd Mony, Drunat Séverine, Flex Elisabetta, Dalle Jean-Hugues, Strullu Marion, Locatelli Franco, Tartaglia Marco, Cavé Hélène

Abstract excerpt

Juvenile myelomonocytic leukemia (JMML) is a rare, generally aggressive myeloproliferative neoplasm affecting young children. It is characterized by granulomonocytic expansion, with monocytosis infiltrating peripheral tissues. JMML is initiated by mutations upregulating RAS signaling. Approximately 10% of cases remain without an identified driver event. Exome sequencing of two unrelated cases of familial JMML of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Germ-Line Mutation

Share to Infant

Share to Infant, Newborn

Share to Intracellular Signaling Peptides and Proteins

Share to Leukemia, Myelomonocytic, Juvenile

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 37981895
DOI: 10.3324/haematol.2023.283917
PMCID: PMC11290538

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.PMID 37981895Read ↗

LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.Semantic proximity Read ↗

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.Semantic proximity Read ↗

RAS diseases in children.Semantic proximity Read ↗

Juvenile myelomonocytic leukemia: who’s the driver at the wheel?Semantic proximity Read ↗

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.Semantic proximity Read ↗

Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome.Semantic proximity Read ↗

Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.Semantic proximity Read ↗

Clinical and molecular characterization of patients with juvenile myelomonocytic leukaemia.Semantic proximity Read ↗

The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.Semantic proximity Read ↗

Childhood Myelodysplastic Syndrome: Focus on the Approach to Diagnosis and Treatment of Juvenile Myelomonocytic LeukemiaSemantic proximity Read ↗

Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia.Semantic proximity Read ↗

Juvenile myelomonocytic leukemia in the molecular era: a clinician's guide to diagnosis, risk stratification, and treatment.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.