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Open Access

Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report

Ali H. Alassiri, Turki M. Alfayea, Tariq I. Aljared and Khaled R. Alenezi
Neurosciences Journal April 2024, 29 (2) 139-143; DOI: https://doi.org/10.17712/nsj.2024.2.20230089
Ali H. Alassiri
From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia
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  • For correspondence: [email protected]
Turki M. Alfayea
From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia
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Tariq I. Aljared
From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia
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Khaled R. Alenezi
From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia
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References

  1. 1.↵
    WHO Classification of Tumors Editorial Board. Central nervous system tumors, 5th ed. Lyon (FR): International Agency for Research on Cancer. 2021. From: https://tumourclassification.iarc.who.int/chaptercontent/45/21
  2. 2.↵
    1. Northrup H,
    2. Aronow ME,
    3. Bebin EM,
    4. Bissler J,
    5. Darling TN,
    6. de Vries PJ, et al.
    Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol 2021; 123: 50–66.
    OpenUrlCrossRefPubMed
  3. 3.↵
    1. Sasaki T,
    2. Uda T,
    3. Kuki I,
    4. Kunihiro N,
    5. Okazaki S,
    6. Niida Y, et al.
    TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma. Childs Nerv Syst 2022; 38: 77–83.
    OpenUrl
  4. 4.↵
    1. Verhoef S,
    2. Bakker L,
    3. Tempelaars AM,
    4. Hesseling-Janssen AL,
    5. Mazurczak T,
    6. Jozwiak S, et al.
    High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 1999; 64: 1632–1637.
    OpenUrlCrossRefPubMedWeb of Science
  5. 5.↵
    1. Stein JR,
    2. Reidman DA.
    Imaging Manifestations of a Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis. Case Rep Radiol 2016; 2016: 3750450.
    OpenUrl
  6. 6.↵
    1. Aguilera D,
    2. Flamini R,
    3. Mazewski C,
    4. Schniederjan M,
    5. Hayes L,
    6. Boydston W, et al.
    Response of subependymal giant cell astrocytoma with spinal cord metastasis to everolimus. J Pediatr Hematol Oncol 2014; 36: e448–e451.
    OpenUrl
  7. 7.↵
    1. Ichikawa T,
    2. Wakisaka A,
    3. Daido S,
    4. Takao S,
    5. Tamiya T,
    6. Date I, et al.
    A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. J Mol Diagn 2005; 7: 544–549.
    OpenUrlCrossRefPubMedWeb of Science
  8. 8.↵
    1. Demir S,
    2. Yalçıntepe S,
    3. Atlı E,
    4. Yalçın Y,
    5. Atlı Eİ,
    6. Eker D, et al.
    Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants. Balkan Med J 2021; 38: 341–347.
    OpenUrl
  9. 9.↵
    1. Franz DN,
    2. Agricola K,
    3. Mays M,
    4. Tudor C,
    5. Care MM,
    6. Holland-Bouley K, et al.
    Everolimus for subependymal giant cell astrocytoma: 5-year final analysis. Ann Neurol 2015; 78: 929–938.
    OpenUrl
  10. 10.↵
    1. Franz DN,
    2. Belousova E,
    3. Sparagana S,
    4. Bebin EM,
    5. Frost M,
    6. Kuperman R, et al.
    Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet 2013; 381: 125–132.
    OpenUrlCrossRefPubMedWeb of Science
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Neurosciences Journal: 29 (2)
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Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report
Ali H. Alassiri, Turki M. Alfayea, Tariq I. Aljared, Khaled R. Alenezi
Neurosciences Journal Apr 2024, 29 (2) 139-143; DOI: 10.17712/nsj.2024.2.20230089

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Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report
Ali H. Alassiri, Turki M. Alfayea, Tariq I. Aljared, Khaled R. Alenezi
Neurosciences Journal Apr 2024, 29 (2) 139-143; DOI: 10.17712/nsj.2024.2.20230089
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