Trilateral Retinoblastoma with an RB1 Deletion Inherited from a Carrier Mother
| Autor: | Jessy Jose, Suresh H. Advani, Pratibha Amare, Purna Kurkure, Prakash Chitalkar, Suresh K. Pai, Chandrika N. Nair |
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| Rok vydání: | 1999 |
| Předmět: |
Genetics
Cancer Research medicine.medical_specialty medicine.diagnostic_test Trilateral retinoblastoma Retinoblastoma Magnetic resonance imaging Intracranial Neoplasm Biology medicine.disease Asymptomatic eye diseases medicine Optic chiasma Radiology Stage (cooking) medicine.symptom Molecular Biology Unilateral Retinoblastoma |
| Zdroj: | Cancer Genetics and Cytogenetics. 111:28-31 |
| ISSN: | 0165-4608 |
| DOI: | 10.1016/s0165-4608(98)00220-9 |
| Popis: | A presentation of intracranial tumor in bilateral and unilateral retinoblastoma with or without family history is termed as trilateral retinoblastoma (TRB). It always occurs either as a pineal tumor or supra/parasellar tumor, which differ in presentation and prognosis. We report here the first case of TRB with transmission of retinoblastoma gene (RB1) deletion from an unaffected mother (a carrier), presenting as concurrent intracranial neoplasm with bilateral retinoblastoma. The presence of RB1 mutation in both child and mother could be responsible for development of intracranial neoplasm which occurred simultaneously with bilateral RB in our patient. Our patient, who had a suprasellar mass, received radiation and intrathecal chemotherapy, and died 6 months after diagnosis. The occurrence of intracranial tumor in an asymptomatic stage can be avoided by routine computed tomography (CT) and magnetic resonance imaging (MRI) scan, and improved survival can be achieved by aggressive multimodality therapy. |
| Databáze: | OpenAIRE |
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