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Heritable retinoblastoma and pinealoma
G T Lueder1, G F Judisch, B C Wen
1Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|December 1, 1991
Summary
Bilateral retinoblastoma (RB) and pinealoma (RB-P) is a rare, uniformly fatal diagnosis. Early surveillance in families with a history of RB may increase detection of this aggressive tumor combination.
Area of Science:
- Oncology
- Genetics
- Ophthalmology
Background:
- Heritable retinoblastoma (RB) presents a genetic predisposition to specific cancers.
- The co-occurrence of retinoblastoma and pinealoma (RB-P) is exceptionally rare.
Observation:
- A fourth case of bilateral RB associated with pinealoma was identified in 56 patients with heritable RB.
- Life-table analysis indicated a 5.6% association between RB and pinealoma within 2 years of RB diagnosis.
Findings:
- Retinoblastoma-pinealoma (RB-P) demonstrated a uniformly fatal outcome in this series and literature review.
- Ninety-five percent of RB-P patients had bilateral RB, a positive family history of RB, or both.
- Pinealoma presentation often involved increased intracranial pressure due to obstructive hydrocephalus, suggesting advanced tumor stage at diagnosis.
Implications:
- The high incidence of positive family history (62%) in pinealoma patients may reflect enhanced surveillance in at-risk families.
- Aggressive tumor staging at diagnosis contributes to the uniformly lethal nature of RB-P.
- Further research into the genetic underpinnings and early detection strategies for RB-P is warranted.