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Esterase D: evaluation of a potential derived gene marker for hereditary retinoblastoma. 1988

C van der Heiden, and A F Geurtzen, and W Brink, and J B de Klerk, and F A Beemer
University Hospital for Children and Youth, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.

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.

UI MeSH Term Description Entries
D008297 Male Males
D002265 Carboxylic Ester Hydrolases Enzymes which catalyze the hydrolysis of carboxylic acid esters with the formation of an alcohol and a carboxylic acid anion. Carboxylesterases,Ester Hydrolases, Carboxylic,Hydrolases, Carboxylic Ester
D005134 Eye Neoplasms Tumors or cancer of the EYE. Cancer of Eye,Eye Cancer,Cancer of the Eye,Neoplasms, Eye,Cancer, Eye,Cancers, Eye,Eye Cancers,Eye Neoplasm,Neoplasm, Eye
D005260 Female Females
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012175 Retinoblastoma A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104) Glioblastoma, Retinal,Glioma, Retinal,Neuroblastoma, Retinal,Eye Cancer, Retinoblastoma,Familial Retinoblastoma,Hereditary Retinoblastoma,Sporadic Retinoblastoma,Cancer, Retinoblastoma Eye,Cancers, Retinoblastoma Eye,Eye Cancers, Retinoblastoma,Familial Retinoblastomas,Glioblastomas, Retinal,Gliomas, Retinal,Hereditary Retinoblastomas,Neuroblastomas, Retinal,Retinal Glioblastoma,Retinal Glioblastomas,Retinal Glioma,Retinal Gliomas,Retinal Neuroblastoma,Retinal Neuroblastomas,Retinoblastoma Eye Cancer,Retinoblastoma Eye Cancers,Retinoblastoma, Familial,Retinoblastoma, Hereditary,Retinoblastoma, Sporadic,Retinoblastomas,Retinoblastomas, Familial,Retinoblastomas, Hereditary,Retinoblastomas, Sporadic,Sporadic Retinoblastomas
D043182 Carboxylesterase Carboxylesterase is a serine-dependent esterase with wide substrate specificity. The enzyme is involved in the detoxification of XENOBIOTICS and the activation of ester and of amide PRODRUGS. Ali-esterase,B-esterase,CAP-hydrolyzing Enzyme,Capsaicin-Hydrolyzing Enzyme,Carboxyesterase,Carboxylate Esterase,Carboxylester Lipase,Carboxylesterase B,Carboxylic Ester Hydrolase,Esterase 10,Esterase 13,Esterase 3,Esterase 6A,Esterase 8,Esterase ES-1A,Hydrolase S,Isocarboxazid amidase,Naproxen Esterase,Non-specific Carboxylesterase,Non-specific Esterase,Nonspecific Esterase,Procaine Esterase,Ali esterase,B esterase,CAP hydrolyzing Enzyme,Capsaicin Hydrolyzing Enzyme,Carboxylesterase, Non-specific,ES-1A, Esterase,Enzyme, CAP-hydrolyzing,Enzyme, Capsaicin-Hydrolyzing,Ester Hydrolase, Carboxylic,Esterase ES 1A,Esterase, Carboxylate,Esterase, Naproxen,Esterase, Non-specific,Esterase, Nonspecific,Esterase, Procaine,Hydrolase, Carboxylic Ester,Lipase, Carboxylester,Non specific Carboxylesterase,Non specific Esterase,amidase, Isocarboxazid

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