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The Retinoblastoma Gene01:20

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Establishment of Orthotopic Patient-derived Xenograft Models for Brain Tumors using a Stereotaxic Device
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Pediatric Orbital Primitive Neuroectodermal Tumors.

Tayyab Afghani, Hassan Mansoor, Syed Naeem Raza Hamdani

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    Orbital primitive neuroectodermal tumors (PNETs) in children often present with proptosis and visual loss. These PNETs require surgical excision and chemotherapy, with potential for recurrence.

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    Area of Science:

    • Ophthalmology
    • Pediatric Oncology
    • Pathology

    Background:

    • Primitive neuroectodermal tumors (PNETs) are rare, aggressive neoplasms.
    • Orbital PNETs in pediatric patients are particularly challenging due to their location and potential for rapid progression.

    Observation:

    • This study analyzed four pediatric cases of orbital PNET, noting proptosis and visual impairment as primary symptoms.
    • Radiological imaging revealed primary orbital involvement in all cases.
    • Histopathology confirmed malignant round cells with characteristic immunohistochemical markers (CD99, FLI-1).

    Findings:

    • Patients underwent surgical tumor excision followed by chemotherapy.
    • One patient experienced two recurrences, necessitating additional radiation therapy.
    • Follow-up ranged from 1 to 5 years, with one patient lost to follow-up after 5 years.

    Implications:

    • Orbital PNETs can present with a deceptively benign appearance on imaging and during surgery.
    • A short symptom duration should raise suspicion for the malignant nature of orbital PNETs.
    • Multimodal treatment including surgery, chemotherapy, and potentially radiation is crucial for managing orbital PNETs.