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    BIOMARKER:

    SH2B3 alteration

    i
    Other names: SH2B3, SH2B Adaptor Protein 3, Lymphocyte-Specific Adapter Protein Lnk, Signal Transduction Protein Lnk, SH2B Adapter Protein 3, LNK, Lymphocyte Adapter Protein, Lymphocyte Adaptor Protein, IDDM20
    Entrez ID:
    10019
    Related biomarkers:
    Mutation
    CNA
    7ms
    SH2B3 alterations in a novel genetic condition, juvenile myelomonocytic leukemia, and myeloproliferative neoplasia. (PubMed, Haematologica)
    Not available.
    Journal
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    SH2B3 (SH2B Adaptor Protein 3)
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    SH2B3 alteration
    12ms
    Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder. (PubMed, Haematologica)
    However, progression to thrombocythemia and immunity-related pathologies may be of concern later in life. Bi-allelic SH2B3 germline mutations thus define a new condition predisposing to a JMML-like disorder, suggesting that the JAK pathway deregulation is capable of initiating JMML, and opening new therapeutic options.
    Journal
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    SH2B3 (SH2B Adaptor Protein 3)
    |
    SH2B3 alteration