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    BIOMARKER:

    PTPN11 mutation

    i
    Other names: PTPN11, Protein Tyrosine Phosphatase Non-Receptor Type 11, Tyrosine-Protein Phosphatase Non-Receptor Type 11, Protein-Tyrosine Phosphatase 1D, Protein-Tyrosine Phosphatase 2C, SH-PTP2, SH-PTP3, PTP-1D, PTP2C, Protein Tyrosine Phosphatase Non-Receptor Type 11, Noonan Syndrome 1, METCDS, PTP-2C, SHPTP2, BPTP3, SHP-2, JMML, SHP2, Shp2, CFC, NS1
    Entrez ID:
    5781
    Related biomarkers:
    Expression
    Mutation
    Others
    11ms
    A novel prognostic risk model for patients with refractory/relapsed acute myeloid leukemia receiving venetoclax plus hypomethylating agents. (PubMed, Leukemia)
    The model was validated in 189 AML patients treated with HMA/VEN in first line. This clinical-molecular, 3-tiered venetoclax prognostic risk score (VEN-PRS) for HMA/VEN treatment outcomes in R/R AML patients will support the selection of appropriate treatment options in this high-risk population.
    Clinical • Journal
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NF1 (Neurofibromin 1) • SF3B1 (Splicing Factor 3b Subunit 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    TP53 mutation • NF1 mutation • SF3B1 mutation • PTPN11 mutation
    |
    Venclexta (venetoclax)
    11ms
    Clinical Characteristics and Prognostic Significance of PTPN11 Gene Mutations in Myelodysplastic Syndromes (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
    PTPN11 mutation had a modest incidence in MDS patients, which was often coexists with RUNX1 mutation. Patients with PTPN11 mutations were more likely to progress to AML than the wild-type group.
    Retrospective data • Journal
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    TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
    |
    TP53 mutation • RUNX1 mutation • PTPN11 mutation • U2AF1 mutation
    1year
    Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up. (PubMed, Children (Basel))
    The patient demonstrated significant improvement in chylothorax and left ventricular hypertrophy, though pulmonary stenosis persisted. This case further confirms trametinib's potential as a therapeutic option for severe Noonan syndrome complications, emphasizing the need for further clinical trials to optimize treatment protocols and evaluate long-term outcomes.
    Journal
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    PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    PTPN11 mutation
    |
    Mekinist (trametinib)
    1year
    A prospective clinical study to evaluate the efficacy of dexitabine in maintenance therapy after hematopoietic stem cell transplantation in juvenile myelomonocytic leukemia (ChiCTR2400091166)
    P=N/A, N=40, Not yet recruiting, The Seventh Affiliated Hospital, Sun Yat-sen University; The Seventh Affiliated Hospital, Sun Yat-sen University
    New trial
    |
    KRAS (KRAS proto-oncogene GTPase) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    KRAS mutation • NRAS mutation • NF1 mutation • PTPN11 mutation • CBL mutation
    1year
    ADVL1521: Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia (clinicaltrials.gov)
    P2, N=10, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Sep 2024 --> Oct 2025
    Trial completion date
    |
    NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    NF1 mutation • RAS mutation • PTPN11 mutation • CBL mutation
    |
    Mekinist (trametinib) • omipalisib (GSK2126458)
    1year
    An Unexpected Finding of a PTPN11 Germline Mutation in a Patient With a Melanocytic Lesion With a Somatic MAP2K1 Mutation. Coincidence or Not? (PubMed, J Cutan Pathol)
    As they are both part of the RAS-MAPK pathway. Furthermore, with the expansion of molecular diagnostics in melanomas, we expect to find an increase in unexpected (germline) mutations.
    Journal
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    MAP2K1 (Mitogen-activated protein kinase kinase 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    PTPN11 mutation
    1year
    PTPN11 Mutation Clonal Hierarchy in Acute Myeloid Leukemia. (PubMed, bioRxiv)
    This immune diversity was reconstituted from early precursor cells when engrafted into immunodeficient mice. Moreover, immune diversity was also observed in the blast component of patient samples with NPM1 and PTPN11 mutations, providing novel antigen targets for immune based approaches in this subset of AML that is resistant to multiple targeted therapies.
    Journal
    |
    NPM1 (Nucleophosmin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    NPM1 mutation • PTPN11 mutation • PTPN11 mutation + NPM1 mutation
    1year
    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. (PubMed, Genes (Basel))
    After an initial response to antimetabolite therapy (6-mercaptopurine), she underwent haploidentical hematopoietic stem cell transplantation (HSCT) and is currently in complete remission. The goal of this review is to gain insight into the various hematological diseases associated with NS, starting from our unique case.
    Review • Journal
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    PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    PTPN11 mutation
    |
    mercaptopurine
    over1year
    STUDY OF THE MOLECULAR GENETIC PROFILE OF HIGH-RISK AML PATIENTS USING NEXT GENERATION SEQUENCING (EHA 2024)
    Highly heterogeneous molecular genetic profile is present in patients from adverse risk group. Mutations ingenes that activate intracellular signaling pathways are most common in high-risk AML. The presence of morethan 6 mutations and ASXL1mut+ and SRSF2mut+ status negatively affect the survival of patients.
    Clinical • Next-generation sequencing
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • KMT2C (Lysine Methyltransferase 2C) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • FAT1 (FAT atypical cadherin 1) • CUX1 (cut like homeobox 1)
    |
    TP53 mutation • DNMT3A mutation • ASXL1 mutation • PTPN11 mutation • SRSF2 mutation
    |
    TruSight Myeloid Sequencing Panel
    over1year
    The elevation of red blood cell distribution width is an independent prognostic factor for juvenile myelomonocytic leukemia. (PubMed, Blood Sci)
    RDW is an independent prognostic variable in JMML subjects. RDW may be regarded as an inexpensive biomarker to predict the clinical outcome in patients with JMML.
    Journal
    |
    PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    PTPN11 mutation
    over1year
    Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor. (PubMed, Mol Med)
    This work proves the usefulness of FRET imaging protocols on both live and fixed Teen ERK reporter fish to readily monitor and quantify pharmacologically- and genetically-induced ERK activity modulations in early embryos, representing a useful tool in pre-clinical applications targeting RAS-MAPK signaling.
    Journal
    |
    PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    PTPN11 mutation