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12 Possible Causes for Diplopia, Mutation in the CDK6 Gene

  • Glioblastoma Multiforme

    Case 2: Meningeal involvement A 31-year-old man presented with seizures and subsequent diplopia.[sajr.org.za] The inherited predisposition factors in pediatric HGG are as follows: germline mutations in tumor suppressor genes TP53 and neurofibromin 1 (NF1); oncogenic NTRK fusions [[doi.org] […] o Headache, especially retroorbital; sometimes worse upon awakening, improves during the day o Vomiting (with or without nausea) o Visual changes (blurring, blind spots, diplopia[physio-pedia.com]

  • Medulloblastoma

    Nausea or vomiting in the morning; • Problems with motor skills, such as clumsiness or poor handwriting; • Tiredness/Fatigue; • Tilting the head to one side; • Double vision (diplopia[secure.ssa.gov] Poor prognosis: Group 3, MYC amplification, photoreceptor/GABAergic gene expression Intermediate prognosis: Group 4, gene expression of neuronal/glutamatergic, CDK6 amplification[en.wikipedia.org] As an example, elevated intracranial pressure can induce dysfunction of the abducens nerves, causing diplopia especially with lateral gaze.[pedclerk.bsd.uchicago.edu]

  • Rhabdomyosarcoma

    Clinical Presentation Symptoms may include worsening headache over weeks with or without progressive diplopia.[ajnr.org] The discovery that p16 gene is mutated or deleted in a striking proportion of human tumors raised the possibility that abnormalities in p16 might predispose to cancer development[ncbi.nlm.nih.gov] In other cases, the tumor may be discovered from symptoms produced by compression of structures at the primary site, such as diplopia (double vision) caused by RMS in the[atlasgeneticsoncology.org]

  • Gallbladder Carcinoma

    One month later she came to our observation after having developed diplopia and ophthalmic pain due to an orbital metastasis.[ncbi.nlm.nih.gov] This tendency is the same as that for K-ras mutations and the pancreaticobiliary maljunction may override the effect of p53 gene mutations.[atlasgeneticsoncology.org] Gene Name CDKN2A (cyclin dependent kinase 2a / p16) Location 9p21.3 Dna / Rna 3 exons Protein Regulatory protein in the cell cycle and cyclin-dependent kinase ( cdk4 / cdk6[atlasgeneticsoncology.org]

  • Burkitt Lymphoma

    CASE CHARACTERISTICS: An 11-year-old boy who initially presented with headache, left ptosis, diplopia and weakness.[ncbi.nlm.nih.gov] , PTEN, NOTCH1, and ATM ; amplifications of RAF1, MDM4, MDM2, KRAS, IKBKE, and CDK6 ; deletion of CDKN2A ; overexpression of MIR17HG ; activating mutations of TCF3 and/or[atlasgeneticsoncology.org] BFM-90 reduced the recurrence of strabismus, diplopia, and proptosis, but did not correct deficits in the best corrected visual acuity.[ncbi.nlm.nih.gov]

  • Familial Melanoma of the Eyelid

    Both dissections carry with them the risk of inducing diplopia.[eyewiki.aao.org] Thus CDKN2A acts as a tumour suppressor gene by inhibiting cellular proliferation.[ncbi.nlm.nih.gov] Germline mutation frequencies in CDKN2A among members of melanoma families show considerable variation.[ncbi.nlm.nih.gov]

  • Familial Melanoma of the Lip

    Both dissections carry with them the risk of inducing diplopia.[eyewiki.aao.org] Thus when mutations in the CDKN2A gene disrupt the function of p16(INK4), there is improper progression from the G1 to the S phase, allowing continued, uncontrolled cell proliferation[ncbi.nlm.nih.gov] Thus CDKN2A acts as a tumour suppressor gene by inhibiting cellular proliferation.[ncbi.nlm.nih.gov]

  • Meningeal Melanocytoma

    A 27-year-old man presented with headache and diplopia at our department.[ncbi.nlm.nih.gov] […] and potential future therapeutic targets, such as the CDK4/CDK6, PTEN and GNAQ/GNA11 genes.[cancerindex.org] Neurological examination documented diplopia only in the extreme left gaze.[bmccancer.biomedcentral.com]

  • Neuroectodermal Tumor

    CASE HISTORY A 21-year-old gentleman presented with numbness of right side of the face for 1 month, and diplopia for 1 week.[surgicalneurologyint.com] Poor prognosis: Group 3, MYC amplification, photoreceptor/GABAergic gene expression Intermediate prognosis: Group 4, gene expression of neuronal/glutamatergic, CDK6 amplification[en.wikipedia.org] The cells have MYC amplification and gene expression of photorecepto/GABAergic. Group 4. This is the most common sub-group. CDK6 and MYCN are amplified.[cedars-sinai.org]

  • Uveal Melanoma

    Diplopia and cosmesis could be improved with Botox injection or strabismus surgery.[ncbi.nlm.nih.gov] , PDGFRB, ERCC5, KDR, XPC, CCND1, DDB2, ERBB2, CDKN2B, ERBB4, HOXD8, EIF1AX, RICTOR, RAC1 Specificity 9 % Genes 80 % Melanoma, somatic mutation sequencing panel.[mendelian.co] Both dissections carry with them the risk of inducing diplopia.[eyewiki.aao.org]

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