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    GENE:

    SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like)

    i
    Other names: SPECC1L, Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like, KIAA0376, CYTSA, Cytokinesis And Spindle Organization A, Renal Carcinoma Antigen NY-REN-22, SPECC1-Like Protein, Cytospin-A, Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1-Like, SPECC1-Like, Cytospin A, OBLFC1, GBBB2, TBHS1, TBH
    3ms
    Case Report: Dual resistance to dasatinib/olverembatinib in accelerated-phase cml: identification of a novel SPECC1L-inserted e8a2 BCR::ABL1 transcript and ABL1 V379I mutation. (PubMed, Front Oncol)
    She ultimately achieved Major Molecular Response (MMR) after haploidentical hematopoietic stem-cell transplantation (haplo-HSCT). This case highlights the importance of comprehensive molecular profiling at diagnosis and the need to develop alternative therapeutic strategies for rare BCR::ABL1 variants.
    Journal
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    ABL1 (ABL proto-oncogene 1) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like)
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    ABL1 fusion
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    dasatinib • Nailike (olverembatinib)
    7ms
    Oral Undifferentiated Pleomorphic Sarcoma: A Novel SPECC1L::TERT Gene Fusion and a Comprehensive Literature Review. (PubMed, Genes (Basel))
    This case underscores the critical importance of a thorough diagnostic workup to ensure the accurate diagnosis and appropriate management of this rare and aggressive tumor. Multidisciplinary evaluation is essential, especially in anatomically complex and diagnostically challenging presentations such as oral UPS.
    Journal
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    SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like)
    9ms
    First Report of SPECC1L::ALK Fusion in Medullary Thyroid Carcinoma with Remarkable Response to Alectinib. (PubMed, Thyroid)
    This is the first report of a SPECC1L::ALK fusion in MTC. The dramatic response to alectinib highlights the importance of molecular profiling and suggests that ALK inhibitors may benefit patients with rare ALK fusions in thyroid cancers.
    Journal
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    SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like)
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    ALK rearrangement • ALK fusion
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    FusionPlex® Dx
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    Alecensa (alectinib)
    1year
    A phase II trial of larotrectinib in tumors with NTRK fusions or extremes of NTRK mRNA overexpression identified by comprehensive genomic profiling. (PubMed, Oncologist)
    Unlike its efficacy in NTRK-fusion positive cancers, larotrectinib did not demonstrate a signal of efficacy among tumors with NTRK overexpression.
    P2 data • Journal
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    NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • TPM3 (Tropomyosin 3) • NTRK (Neurotrophic receptor tyrosine kinase) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like)
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    NTRK1 fusion • NTRK2 fusion • NTRK positive • NTRK1 overexpression • NTRK expression • NTRK fusion
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    Vitrakvi (larotrectinib)
    1year
    Orthoplastic Approach to the Treatment and Reconstruction of a Neurotrophic Receptor Tyrosine Kinase Type 3 Soft Tissue Sarcoma Arising From the Occipitalis Muscle. (PubMed, Cureus)
    There is little published literature to guide care for low-grade NTRK3 mutation STS. This case highlights the importance of multidisciplinary care for STS.
    Journal
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    NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK (Neurotrophic receptor tyrosine kinase) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like) • SPECC1 (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1)
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    NTRK3 fusion
    1year
    NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report. (PubMed, J Cancer Res Clin Oncol)
    Following 1 month of entrectinib treatment, the patient experienced considerable tumor shrinkage and symptomatic improvement. For bone-derived NTRK-rearranged spindle cell sarcomas, entrectinib shows promising therapeutic efficacy and should be considered a preferred treatment option.
    Journal
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    NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NTRK (Neurotrophic receptor tyrosine kinase) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like)
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    NTRK3 fusion
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    Rozlytrek (entrectinib)
    over1year
    Epithelioid Fibrous Histiocytoma Is on a Continuum With Superficial ALK-rearranged Myxoid Spindle Cell Neoplasm: A Clinicopathologic Series of 35 Cases Including Alternate RET and NTRK3 Fusions. (PubMed, Am J Surg Pathol)
    SAMS is on a morphologic and molecular genetic spectrum with EFH, with a similar body site distribution, frequent clinical presentation as an exophytic skin tumor, and invariably benign outcomes; we conclude that SAMS should be considered a histologic variant of EFH. Some morphologically typical examples harbor alternate RET and NTRK3 fusions, such that SAMS is not an appropriate designation for this morphologic class; instead, to highlight the clinicopathologic similarities to EFH, we propose the diagnostic term "myxoid spindle cell variant of epithelioid fibrous histiocytoma."
    Journal
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    ALK (Anaplastic lymphoma kinase) • RET (Ret Proto-Oncogene) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CD34 (CD34 molecule) • NCOA4 (Nuclear Receptor Coactivator 4) • DCTN1 (Dynactin Subunit 1) • SQSTM1 (Sequestosome 1) • MPRIP (Myosin Phosphatase Rho Interacting Protein) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like) • PLEKHH2 (Pleckstrin Homology, MyTH4 And FERM Domain Containing H2) • PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha)
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    NTRK3 fusion • RET fusion • ALK rearrangement • ALK fusion • CDKN2A deletion • NCOA4-RET fusion
    over1year
    Clinical and Molecular Traits of a Novel SPECC1L-ALK Fusion in a Patient with Advanced Non-Small Cell Lung Cancer. (PubMed, J Pers Med)
    The in silico hypothesized biological role of this newly identified fusion variant corroborates the observed clinical response to multiple ALKis. The molecular findings also reinforce the utility of AMP-based NGS technology as a valuable tool for the identification of rare chromosomal events that may be related to the variability of patient outcomes to different ALKis treatments.
    Journal • Metastases
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    ALK (Anaplastic lymphoma kinase) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like) • SPECC1 (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1)
    over1year
    NTRK-fused central nervous system tumours: clinicopathological and genetic insights and response to TRK inhibitors. (PubMed, Acta Neuropathol Commun)
    Four patients received adjuvant TRK inhibitor therapy (larotrectinib, repotrectinib, or entrectinib), among which three also received chemotherapy (n = 2) or proton therapy (n = 1). This patient had previously experienced relapse after the initial surgery and underwent autologous peripheral blood stem cell therapy with carboplatin/thiotepa and proton therapy. Conclusions Our study clarifies the distinct differences in the pathology and TRK inhibitor response between LGG and HGG with NTRK fusions.
    Journal
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    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • MDM4 (The mouse double minute 4) • TPM3 (Tropomyosin 3) • TFG (Trafficking From ER To Golgi Regulator) • FKBP15 (FKBP Prolyl Isomerase 15) • KANK1 (KN Motif And Ankyrin Repeat Domains 1) • NTRK (Neurotrophic receptor tyrosine kinase) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like) • GKAP1 (G Kinase Anchoring Protein 1) • KIF5A (Kinesin Family Member 5A)
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    carboplatin • Vitrakvi (larotrectinib) • Rozlytrek (entrectinib) • Augtyro (repotrectinib) • thiotepa
    almost2years
    Uncommon molecular alterations in follicular-derived thyroid carcinoma: A single institution study. (PubMed, Pathol Res Pract)
    As demonstrated in our case cohort, 100% of cases diagnosed as high-grade follicular-derived thyroid carcinoma had a mutation or fusion that is associated with worse prognosis, has a germline syndrome association requiring further work up, or an actionable mutation. This high yield seen in this cohort for molecular testing in patients with high-grade follicular-derived thyroid carcinoma suggests more routine molecular testing in this population would be a beneficial clinical practice.
    Journal
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    FGFR2 (Fibroblast growth factor receptor 2) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • TPM3 (Tropomyosin 3) • NSD3 (Nuclear Receptor Binding SET Domain Protein 3) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like) • G3BP2 (G3BP Stress Granule Assembly Factor 2) • NUTM1 (NUT Midline Carcinoma Family Member 1)
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    NTRK1 fusion • TPM3-NTRK1 fusion
    2years
    Efficacy of alectinib in lung adenocarcinoma patients with different anaplastic lymphoma kinase (ALK) rearrangements and co-existing alterations-a retrospective cohort study. (PubMed, Transl Lung Cancer Res)
    TP53 and TSC1 co-mutations were identified as detrimental factors affecting efficacy. This study provides references for the response to alectinib in patients with different types of ALK rearrangements and co-mutation.
    Retrospective data • Journal
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    ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • EML4 (EMAP Like 4) • MSH2 (MutS Homolog 2) • TSC1 (TSC complex subunit 1) • SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like)
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    TP53 mutation • ALK rearrangement • ALK fusion • TSC1 mutation
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    Alecensa (alectinib)
    2years
    DNA methylation of ICAM4 and NOXO1 participate in the formation of uterine fibroids via regulating immune cell infiltration. (PubMed, Cell Mol Biol (Noisy-le-grand))
    DNA methylation of ICAM4 and NOXO1 are involved in the pathogenesis of UFs via regulating immune cell infiltration. Further classification based on transcriptomic characteristics could divide UFs into sexual steroids-related and biomechanics-related subtypes, which would promote its non-invasive treatment.
    Journal • Epigenetic controller • Immune cell
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    SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like)