title: Esterase D: evaluation of a potential derived gene marker for hereditary retinoblastoma.
abstract: The gene locus of esterase D is closely linked to that coding for retinoblastoma. When the occurrence of retinoblastoma is based on a chromosome deletion, red cell esterase D might be a potential tumor marker for diagnosing retinoblastoma. This diagnostic utility was tested by measuring total esterase D and differentiating esterase D to its different phenotypes in red cells of patients with bilateral retinoblastoma, unilateral retinoblastoma having a positive family history and unilateral sporadic retinoblastoma. These results are compared with the findings within a group of first degree relatives of these patients and of a reference group of apparently healthy controls. A poor sensitivity and a low positive predictive value were found. So, the conclusion might be drawn that screening of all retinoblastoma patients for esterase D in order to get insight in the weighting of risk of retinoblastoma is very much open to question and due to high cost efficiency ratio might not be recommended.
authors.affiliation: University Hospital for Children and Youth, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: van der Heiden
authors.forename: A F
authors.initials: AF
authors.lastname: Geurtzen
authors.forename: W
authors.initials: W
authors.lastname: Brink
authors.forename: J B
authors.initials: JB
authors.lastname: de Klerk
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
mesh_terms: D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D012175:Retinoblastoma / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human