trilateral retinoblastoma
Rare syndrome combining bilateral retinoblastoma with an intracranial primitive neuroectodermal tumor, typically pineal or suprasellar.
Full Definition
Trilateral retinoblastoma is a devastating syndrome characterized by bilateral retinoblastoma accompanied by an intracranial primitive neuroectodermal tumor (PNET), most commonly arising in the pineal gland or suprasellar region. This condition occurs almost exclusively in patients with germline RB1 mutations and represents the most severe manifestation of hereditary retinoblastoma. The intracranial component typically develops within the first few years of life and carries an extremely poor prognosis despite aggressive multimodal therapy. Regular neuroimaging surveillance is essential for early detection in patients with bilateral retinoblastoma. The term 'trilateral' refers to the three tumor sites: both eyes plus the intracranial location.
Usage
Usage note: Distinguish from 'quadrilateral' retinoblastoma which includes additional ectopic intracranial sites.
In Context
- "MRI screening detected a pineal mass in this bilateral retinoblastoma patient, confirming trilateral retinoblastoma." — Neuroimaging report
- "The diagnosis of trilateral retinoblastoma necessitated immediate neurosurgical consultation and palliative care planning." — Multidisciplinary team note