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retinoblastoma

Epidemiology: - occurs in about 1:20,000 live births - represents about 2% of childhood malignancies Pathology: - arises from the nuclear layers of the retina - bilateral in about 30% of cases Genetics: - most cases sporadic - ~ 20% are transmitted as autosomal dominant with incomplete penetrance - implicated genes: Rb gene, DUSP26 Clinical manifestations: - diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated Laboratory: -> PCR/southern blot/northern blot/in-situ hybridization

Related

chromosome 13q14 deletion (retinoblastoma) retinoblastoma [Rb] gene (Rb1)

General

embryonal neoplasm neuroepithelial neoplasm (includes glial, pineal, choroid plexus, ganglion cell neoplasms and others)

Database Correlations

OMIM 180200

References

  1. OMIM :accession 180200
  2. UniProt :accession P06400
  3. Retinoblastoma (PDQ): Treatment http://www.nci.nih.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional http://www.nci.nih.gov/cancertopics/pdq/treatment/retinoblastoma/Patient