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    GENE:

    LZTR1 (Leucine Zipper Like Transcription Regulator 1)

    i
    Other names: Leucine Zipper Like Transcription Regulator 1, Leucine-Zipper-Like Transcriptional Regulator 1, LZTR-1, BTBD29, Epididymis Secretory Sperm Binding Protein, SWNTS2, LZTR1, TCFL2, NS10, NS2
    Associations

    News

    Trials
    12d
    Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders. (PubMed, Mol Syndromol)
    Undescribed features in this group included myopathy and megacolon in a patient with Noonan syndrome-like, hypogonadotropic hypogonadism, and azoospermia in a patient with Noonan syndrome-like with loose anagen hair, and schizophrenia in a patient with Costello syndrome. One patient with Noonan syndrome had a novel variant of the A2ML1 gene (c.1829G>A), but the variant was strictly of uncertain significance, while c.2033G>A in the LZTR1 gene and c.1A>G in the NF1 gene are variants for the first time associated with features of Noonan syndrome.
    Journal
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    BRAF (B-raf proto-oncogene) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    1m
    Schwannomatosis diagnosed from an approximately 30-year history of multiple mononeuropathy accompanied by multiple cauda equina nodules: a case report (PubMed, Rinsho Shinkeigaku)
    Schwannomatosis (SWN) is a rare disease characterized by the formation of multiple peripheral schwannomas, associated with genetic abnormalities such as SMARCB1 and LZTR1. When multiple peripheral nerve tumors are detected, SWN should be considered as part of the differential diagnosis.
    Journal
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    1m
    Phosphorylation Protects Oncogenic RAS from LZTR1-Mediated Degradation. (PubMed, bioRxiv)
    The kinases PAK1 and PAK2 shield RAS from LZTR1-dependent degradation by phosphorylating T148, and targeting PAK1/2 activity improves RAS-directed therapy. Collectively, our findings reveal a novel regulatory circuit governing RAS stability that is preferentially active in blood cancers and potentially druggable.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PAK2 (P21 (RAC1) Activated Kinase 2) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
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    KRAS mutation • NRAS mutation • KRAS A146 • NRAS A146
    1m
    Genetic profiling of mammary periductal stromal tumors with histologic correlation highlights high-grade and low-grade groups and similarities to phyllodes tumors. (PubMed, Mod Pathol)
    In summary, we describe herein the genetic landscape of PDST, demonstrate correlation of genetic features with high-grade versus low-grade histology, and identify TP53 among key oncogenic drivers of HGPDST, including in Li-Fraumeni Syndrome. The genetics of HGPDST overlap with borderline or malignant PT, consistent with their classification as PT variants that arise through a MED12-independent pathway.
    Journal
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    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CD34 (CD34 molecule) • ARID2 (AT-Rich Interaction Domain 2) • HMGA2 (High mobility group AT-hook 2) • KMT2B (Lysine Methyltransferase 2B) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    1m
    Central nervous system schwannoma, VGLL-fused (EWSR1::VGLL1 fusion) with neuroblastoma-like cell dense areas in the frontal lobe of a young man with schwannomatosis due to a germline LZTR1 mutation. (PubMed, Free Neuropathol)
    The tumor histologically merged with the brain, and showed both schwannoma-like and neuroblastoma-like areas. A germline LZTR1 mutation was subsequently identified, implying the patient suffered from schwannomatosis.
    Journal
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    EWSR1 (EWS RNA Binding Protein 1) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    2ms
    Identification of BAP1 Germline Mutation in a Pediatric Patient With Skull Base Meningioma. (PubMed, J Child Neurol)
    Identifying the BAP1 mutation enabled preventive care, genetic testing for relatives, and tailored cancer screening. It underscores the need for thorough genomic assessments and multidisciplinary strategies to optimize outcomes in rare pediatric conditions.
    Journal
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    BAP1 (BRCA1 Associated Protein 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    2ms
    Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk. (PubMed, Pediatr Blood Cancer)
    CIC, IREB2, POGZ, and PCDHG cluster are associated with neurodevelopmental disorders, supporting shared developmental mechanisms. Findings warrant investigation of pathways linking congenital anomalies and childhood cancer.
    Journal
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    IREB2 (Iron Responsive Element Binding Protein 2) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    2ms
    Intrinsic resistance to RAS inhibitors is driven by dysregulation of KRAS degradation. (PubMed, Nat Commun)
    Co-inhibition of mTOR or the SLC3A2/SLC7A5 complex using dactolisib or JPH203 restores sensitivity to KRAS inhibitors in vitro and in vivo. These findings support combinatorial targeting of mTOR signaling or amino acid transport to overcome intrinsic resistance in KRAS-mutant lung cancer.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • SLC3A2 (Solute Carrier Family 3 Member 2) • SLC7A5 (Solute Carrier Family 7 Member 5) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
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    KRAS mutation • KRAS wild-type • RAS wild-type
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    dactolisib (RTB101) • nanvuranlat (JPH203)
    3ms
    Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort. (PubMed, Front Genet)
    Our findings underscore the clinical and genetic diversity of RASopathies in the Indian population and highlight the role of next-generation sequencing in early and accurate diagnosis. While exploratory drug-gene interaction analysis provides hypothesis-generating insights, clinical translation requires rigorous validation in functional studies and clinical trials.
    Journal
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    BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • MAP2K2 (Mitogen-activated protein kinase kinase 2) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • MAPK1 (Mitogen-activated protein kinase 1) • RIT1 (Ras Like Without CAAX 1) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    3ms
    Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis. (PubMed, Fam Cancer)
    In addition, genes such as CDKN2A and SMARCA4 may also contribute to schwannomatosis in the context of broader tumor predisposition syndromes. These emerging genetic associations may help explain a proportion of schwannomatosis cases that currently lack a molecular diagnosis, while there is still room for the discovery of non-coding alleles or mosaic forms of known schwannomatosis-related conditions as well as novel genes that could explain unresolved cases.
    Review • Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NF2 (Neurofibromin 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • SOX10 (SRY-Box 10) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    3ms
    Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies. (PubMed, Fam Cancer)
    Genetic diagnosis can be critical for distinguishing between the three conditions to optimise clinical management, especially in cases of mosaic disease. This review summarises the distinctions between the clinical and genetic characteristics of each form of schwannomatosis and discusses the genetic analytic tools that are typically used to detect the variants found in these conditions.
    Review • Journal
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    3ms
    Hybrid neurofibroma/schwannoma in schwannomatosis-a diagnostically challenging benign peripheral nerve sheath tumour. (PubMed, Fam Cancer)
    Initial studies in related fields have shown that such approaches can even surpass human-level accuracy. Nevertheless, an accurate histological and, if necessary, molecular evaluation remains essential-particularly for the correct classification as SWN and for ensuring appropriate genetic counseling to affected individuals.
    Review • Journal
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    HER-2 (Human epidermal growth factor receptor 2) • KMT2A (Lysine Methyltransferase 2A) • NF2 (Neurofibromin 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)