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Bleeding solitary SEGA in non-tuberous sclerosis complex adolescent: a case illustration and review of literature

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Abstract

Subependymal giant cell astrocytoma (SEGA) represents a benign brain tumor occurring in 5–20% of individuals diagnosed with tuberous sclerosis complex (TSC), serving as a major diagnostic criterion. The presence of SEGA in a patient often prompts consideration of TSC as a probable diagnosis, given its unique association with this disorder. Typically, only one additional major criterion or two minor criteria are necessary to fulfill the diagnostic criteria for TSC. However, in rare instances, SEGA may manifest in patients without clinical features of TSC, termed solitary SEGA. The occurrence of solitary SEGA in patients lacking both clinical manifestations of TSC and genetic confirmation is extremely rare. Furthermore, the presentation of SEGA with intratumoral bleeding is exceedingly uncommon. Here, we presented a case of bleeding solitary SEGA in non-TSC adolescent who underwent surgery and has remained free of disease for a minimum of 3 years. Genetic analysis of peripheral blood and tumor tissue yielded negative results for TSC-related mutations. While SEGA occurrence in non-TSC patients is uncommon, it remains one of the possible diagnoses of intraventricular tumors. However, comprehensive genetic and physical evaluations are imperative to confirm the TSC status and guide further investigations and follow-up appropriately.

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Data availability

No datasets were generated or analyzed during the current study.

Abbreviations

CT:

Computed tomography

DNA:

Deoxyribonucleic acid

FFPE:

Formalin-fixed paraffin-embedded

MRI:

Magnetic resonance imaging

mTOR:

Mammalian target of rapamycin

SEGA:

Subependymal giant cell astrocytoma

TSC:

Tuberous sclerosis complex

VEP:

Variant Effect Predictor

VOUS:

Variant of uncertain significance

WHO:

World Health Organization

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Author information

Authors and Affiliations

  1. Division of Neurosurgery, Department of Surgery, Thammasat University Hospital, Faculty of Medicine, Thammasat University, Pathumthani, Thailand

    Vich Yindeedej & Pasinee Chotsakulthong

  2. Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand

    Kitiwan Rojnueangnit

  3. Center of Medical Genomics, Thammasat University Hospital, Pathumthani, Thailand

    Kitiwan Rojnueangnit

  4. Department of Anatomical Pathology, Faculty of Medicine Vajira Hospital, Navamindradhiraj University, Bangkok, Thailand

    Chatchai Thamwongskul

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  1. Vich Yindeedej
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  3. Pasinee Chotsakulthong
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  4. Chatchai Thamwongskul
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Contributions

Conceptualization and design: Yindeedej. Acquisition of data: Rojnueangnit, Chotsakulthong, Thamwongskul. Drafting of the manuscript: Yindeedej. Critical revision: Yindeedej, Rojnueangnit, Chotsakulthong, Thamwongskul. Review of the submitted version of the manuscript: All authors. Approval of the final version: Yindeedej.

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Correspondence to Vich Yindeedej.

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Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the Ethics Committee of Faculty of Medicine, Thammasat University, and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

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The patient consented to the procedure and written informed consent was obtained.

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All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript. The authors have no personal, financial, or institutional interest in any of the drugs, materials, or devices described in this article.

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Yindeedej, V., Rojnueangnit, K., Chotsakulthong, P. et al. Bleeding solitary SEGA in non-tuberous sclerosis complex adolescent: a case illustration and review of literature. Childs Nerv Syst 40, 2199–2207 (2024). https://doi.org/10.1007/s00381-024-06382-z

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