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    GENE:

    TSC2 (TSC complex subunit 2)

    i
    Other names: TSC2, TSC Complex Subunit 2, Protein Phosphatase 1, Regulatory Subunit 160, Tuberous Sclerosis 2 Protein, Tuberin, TSC4, Tuberous Sclerosis 2, PPP1R160
    2d
    Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family. (PubMed, Mol Genet Genomic Med)
    Our clinical report is of significance as it illustrates a possible genotype-phenotype correlation between a specific TSC2 pathogenic variant and a severe renal phenotype. Our case series highlights the importance of establishing genotype-phenotype interactions to provide anticipatory guidance using prognostic data and clinical management.
    Journal
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    TSC2 (TSC complex subunit 2)
    7d
    Case Report: mTOR inhibitor treatment for epithelioid angiomyolipoma harboring biallelic TSC2 mutations. (PubMed, Front Oncol)
    He underwent nephrectomy, followed by hepatic recurrence treated with pazopanib and subsequent axitinib. Based on these findings, everolimus, a mammalian/mechanistic target of rapamycin (mTOR) inhibitor, was recommended, which markedly reduced the size of the metastatic lesions and was continued for 24 months until disease progression without severe adverse events. This case suggests that CGP can help identify actionable alterations in eAML, such as TSC2 mutations, to guide personalized therapy with mTOR inhibitors.
    Journal
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    TSC2 (TSC complex subunit 2)
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    everolimus • pazopanib • axitinib • sirolimus
    10d
    Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency). (PubMed, Mayo Clin Proc)
    Next-generation sequencing-based molecular profiling had clinical utility in two-thirds of patients, and the greatest benefit was within the broad category of ccRCN. Our results suggest that GPNMB expression was helpful in separating ELOC-RCCfms from M/TSC-RCCfms. Other benefits of NGS include subtyping high-grade RCC/RCC type not otherwise specified and identification of rare phenotypes.
    Journal • Next-generation sequencing • Mismatch repair
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    mTOR (Mechanistic target of rapamycin kinase) • TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1) • CA9 (Carbonic anhydrase 9) • GPNMB (Glycoprotein Nmb) • MITF (Melanocyte Inducing Transcription Factor)
    17d
    Clinicopathological and molecular features of acquired cystic disease-associated renal cell carcinoma (PubMed, Zhonghua Bing Li Xue Za Zhi)
    ACD-RCC is a rare renal cell carcinoma that occurs in patients with end-stage renal disease and has unique morphological features. It is often associated with favorable prognosis and alterations in genes related to the MTOR/TSC pathway or chromatin modification.
    Journal
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    ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • KMT2C (Lysine Methyltransferase 2C) • TSC2 (TSC complex subunit 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • MME (Membrane Metalloendopeptidase) • KMT2B (Lysine Methyltransferase 2B) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8) • TFEB (Transcription Factor EB 2)
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    TP53 mutation
    26d
    Malignant Melanoma: Landscape of Molecular Markers. (PubMed, Biomedicines)
    This study is limited due to a small cohort and limited available clinical data. Larger cohort studies and prospective clinical trials are necessary to validate and explore the interplay between molecular and immune biomarkers as well as general biological mechanism in paving therapeutic way in melanoma.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • PMS2 (PMS1 protein homolog 2) • TSC2 (TSC complex subunit 2) • NOTCH3 (Notch Receptor 3)
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    BRAF mutation • NRAS mutation • KIT mutation
    27d
    Malignant progression of SEGA-imitating fibrous meningioma in a child carrying a germline CHEK2 mutation. (PubMed, Pathobiology)
    Constitutional CHEK2 mutations combined with somatic NF1 defect may have promoted the malignant progression of SEGA-imitating fibrous meningioma and its favorable initial response to mTOR inhibitors.
    Journal
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    TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • TSC2 (TSC complex subunit 2) • CHEK2 (Checkpoint kinase 2) • TSC1 (TSC complex subunit 1)
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    CHEK2 mutation
    27d
    Integrated mutational landscape analysis of endometrial stromal sarcoma. (PubMed, Proc Natl Acad Sci U S A)
    Finally, in an activating NRAS-mutant (p.Q61R) HG-ESS xenograft, the combination of MEK and FAK inhibition dramatically suppressed tumor growth and prolonged survival, highlighting a promising targeted treatment strategy. Overall, our comprehensive analysis defines the molecular basis of ESS and provides a strong preclinical rationale for precision therapies in this aggressive cancer.
    Journal • Tumor mutational burden • IO biomarker
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • TSC2 (TSC complex subunit 2) • JAZF1 (JAZF Zinc Finger 1) • RAD54B (RAD54 Homolog B) • SUZ12 (SUZ12 Polycomb Repressive Complex 2 Subunit)
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    TP53 mutation • NRAS mutation • STK11 mutation • NRAS Q61
    27d
    A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified. (PubMed, Oxf Med Case Reports)
    This case highlights the importance of considering TSC as a potential diagnosis in cases of early-onset renal cystic disease, even in the absence of detectable TSC gene mutations. Additionally, the case emphasizes the risk of severe renal involvement in TSC, necessitating early recognition and management.
    Journal
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    TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1)
    27d
    A Phase I Trial of Combination Gemcitabine and Nab-Sirolimus in Advanced Leiomyosarcomas or Advanced Soft-Tissue Sarcomas With TSC2 or TSC1 Loss-of-function Mutations or Deletions (clinicaltrials.gov)
    P1, N=18, Active, not recruiting, M.D. Anderson Cancer Center | N=12 --> 18
    Enrollment change
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    TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1)
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    gemcitabine • Fyarro (nanoparticle albumin-bound rapamycin)
    28d
    Sequential anlotinib and camrelizumab combination therapy achieves exceptional survival in multi-driver mutated, TMB-low/PD-L1-low/MSS pulmonary sarcomatoid carcinoma: case report and literature review. (PubMed, Front Immunol)
    This approach resulted in unprecedented survival outcomes: the 72-month overall survival dramatically exceeds the median OS of less than 12 months reported for advanced PSC, and the patient maintained a progression-free survival of over 37 months on combination therapy, surpassing historical PFS benchmarks. This case provides a clinically actionable framework for managing multi-driver mutated, immunoresistant PSC.
    Review • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • STK11 (Serine/threonine kinase 11) • TSC2 (TSC complex subunit 2)
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    PD-L1 expression • PD-L1 underexpression • PTEN mutation • STK11 mutation • TMB-L • RET mutation
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    Focus V (anlotinib) • AiRuiKa (camrelizumab)
    28d
    Genomic Characterization of Oncocytic Carcinoma of the Thyroid Using a Large Multi-Institutional Database. (PubMed, Otolaryngol Head Neck Surg)
    The genomic landscape of OCA is marked by frequent TERT promoter mutations and distinct mutational patterns associated with patient gender and tumor metastatic status. These findings highlight potential molecular subtypes, reveal pathways potentially driving metastasis (eg, involving MEN1/TSC2), and identify novel sex-specific alterations (MST1R, PRKDC), offering avenues for improved development of targeted therapeutic strategies for OCA.
    Journal
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    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D) • TSC2 (TSC complex subunit 2) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • DAXX (Death-domain associated protein) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • PCLO (Piccolo Presynaptic Cytomatrix Protein) • MST1R (Macrophage Stimulating 1 Receptor)
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    TP53 mutation • PTEN mutation
    1m
    Divergent evolution of hepatocellular carcinoma genomes in chimpanzees and humans. (PubMed, Evol Med Public Health)
    Divergent evolutionary patterns highlight species-specific oncogenic routes while underscoring conserved pathways. Comparative primate cancer genomics offers novel insights into cancer evolution, biomarkers, and therapeutic targets.
    Journal • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • TSC2 (TSC complex subunit 2) • FAT1 (FAT atypical cadherin 1) • VIM (Vimentin) • FAT4 (FAT Atypical Cadherin 4) • TGFB1 (Transforming Growth Factor Beta 1)
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    TP53 mutation • TMB-H • ARID1A mutation