Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings.

2.50
Hdl Handle:
http://hdl.handle.net/10541/98403
Title:
Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings.
Authors:
Gibbons, B; Scott, D; Hungerford, J L; Cheung, K L; Harrison, C; Attard-Montalto, S; Evans, M; Birch, Jillian M; Kingston, J E
Abstract:
Two children presenting with sporadic unilateral retinoblastoma and exhibiting a high degree of chromosome breakage were noted to have unusual facies, microcephaly and abnormal skin pigmentation. In the first child the pattern of both spontaneous and mitomycin-C-induced chromosome breakage was characteristic of Fanconi's anaemia although the degree of breakage was extreme. She also exhibited a striking increase in X-ray-induced chromosomal damage in G0 lymphocytes as measured by dicentric formation and increase in chromatid-type aberrations. She had a number of typical clinical features, including cafe-au-lait patches and abnormalities involving the kidney; however, she demonstrated neither the hypoplasia of radius and thumb nor the typical aplastic phase of this disorder. At age 22 months the child became anaemic with trilineage myelodysplasia, which was rapidly followed by the development of acute myeloblastic leukaemia. The early onset (at age 4 months) of retinoblastoma may have been associated with the underlying genomic instability. The second child exhibited a pattern of chromosome breakage characteristic of Bloom's syndrome, in addition to a moderate increase in damage induced by mytomycin-C. She had the typical stunted growth and malar hypoplasia of Bloom's syndrome although she did not demonstrate the frequently described erythematous 'butterfly rash' Although patients with Fanconi's anaemia and Bloom's syndrome are recognised to be at an increased risk of cancer, retinoblastoma has not previously been described in patients with either condition. We suggest that underlying recessive chromosome breakage syndromes may be underdiagnosed in paediatric cancer patients, with important implications for prognosis and genetic counselling.
Affiliation:
Department of Medical Oncology, St Bartholomew's Hospital, London, UK.
Citation:
Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings. 1995, 47 (6):311-7 Clin. Genet.
Journal:
Clinical Genetics
Issue Date:
Jun-1995
URI:
http://hdl.handle.net/10541/98403
DOI:
10.1111/j.1399-0004.1995.tb03971.x
PubMed ID:
7554365
Type:
Article
Language:
en
ISSN:
0009-9163
Appears in Collections:
All Christie Publications

Full metadata record

DC FieldValue Language
dc.contributor.authorGibbons, Ben
dc.contributor.authorScott, Den
dc.contributor.authorHungerford, J Len
dc.contributor.authorCheung, K Len
dc.contributor.authorHarrison, Cen
dc.contributor.authorAttard-Montalto, Sen
dc.contributor.authorEvans, Men
dc.contributor.authorBirch, Jillian Men
dc.contributor.authorKingston, J Een
dc.date.accessioned2010-05-10T16:31:33Z-
dc.date.available2010-05-10T16:31:33Z-
dc.date.issued1995-06-
dc.identifier.citationRetinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings. 1995, 47 (6):311-7 Clin. Genet.en
dc.identifier.issn0009-9163-
dc.identifier.pmid7554365-
dc.identifier.doi10.1111/j.1399-0004.1995.tb03971.x-
dc.identifier.urihttp://hdl.handle.net/10541/98403-
dc.description.abstractTwo children presenting with sporadic unilateral retinoblastoma and exhibiting a high degree of chromosome breakage were noted to have unusual facies, microcephaly and abnormal skin pigmentation. In the first child the pattern of both spontaneous and mitomycin-C-induced chromosome breakage was characteristic of Fanconi's anaemia although the degree of breakage was extreme. She also exhibited a striking increase in X-ray-induced chromosomal damage in G0 lymphocytes as measured by dicentric formation and increase in chromatid-type aberrations. She had a number of typical clinical features, including cafe-au-lait patches and abnormalities involving the kidney; however, she demonstrated neither the hypoplasia of radius and thumb nor the typical aplastic phase of this disorder. At age 22 months the child became anaemic with trilineage myelodysplasia, which was rapidly followed by the development of acute myeloblastic leukaemia. The early onset (at age 4 months) of retinoblastoma may have been associated with the underlying genomic instability. The second child exhibited a pattern of chromosome breakage characteristic of Bloom's syndrome, in addition to a moderate increase in damage induced by mytomycin-C. She had the typical stunted growth and malar hypoplasia of Bloom's syndrome although she did not demonstrate the frequently described erythematous 'butterfly rash' Although patients with Fanconi's anaemia and Bloom's syndrome are recognised to be at an increased risk of cancer, retinoblastoma has not previously been described in patients with either condition. We suggest that underlying recessive chromosome breakage syndromes may be underdiagnosed in paediatric cancer patients, with important implications for prognosis and genetic counselling.en
dc.language.isoenen
dc.subjectEye Canceren
dc.subjectAcute Myeloid Leukaemiaen
dc.subject.meshBloom Syndrome-
dc.subject.meshChild, Preschool-
dc.subject.meshChromosome Aberrations-
dc.subject.meshChromosomes-
dc.subject.meshDNA-
dc.subject.meshEye Neoplasms-
dc.subject.meshFanconi Anemia-
dc.subject.meshFemale-
dc.subject.meshHumans-
dc.subject.meshInfant-
dc.subject.meshInfant, Newborn-
dc.subject.meshLeukemia, Myeloid, Acute-
dc.subject.meshLymphocytes-
dc.subject.meshMitomycin-
dc.subject.meshRetinoblastoma-
dc.subject.meshSister Chromatid Exchange-
dc.titleRetinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings.en
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Oncology, St Bartholomew's Hospital, London, UK.en
dc.identifier.journalClinical Geneticsen

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