Frequency of 13q Abnormalities Among 203 Patients With Retinoblastoma

Gr, Burgio; Bs, Emanuel; At, Meadows; Jd, Buckley; Woods, WG; Gd, Hammond

doi:10.1093/jnci/81.5.370

Cited by 71 publications

(48 citation statements)

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“…The vast majority of occurrences of Down syndrome are sporadic. Three quarters of patients with genetic retinoblastoma (Bunin et al, 1989;Sanders et al, 1988) and 89% of bilateral Wilms' tumour patients (Breslow et al, 1988) occur in families with no other members affected. One-half of neurofibromatosis cases are the result of new mutations (Crowe et al, 1956) and as average family size becomes smaller, the majority of new cases of recessive disease will be isolated as well.…”

Section: Resultsmentioning

confidence: 99%

An estimate of the heritable fraction of childhood cancer

Narod

Stiller²,

Lenoir³

1991

Br J Cancer

229

146

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(20). The highest hereditary fractions at individual tumour sites were seen for: retinoblastoma (37.2%); kidney (7.2%); leukaemia (2.6%) and brain and spinal cord (2.0%). When information about family history from published reports was incorporated into the figures calculated from Registry data the total genetic fraction was estimated to be 4.2%. We conclude that there is a clear genetic basis for a small minority of the cancers of childhood, but ethnic variation and the lack of known environmental determinants suggest that the total influence of heredity may be higher.

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Section: Resultsmentioning

confidence: 99%

An estimate of the heritable fraction of childhood cancer

Narod

Stiller²,

Lenoir³

1991

Br J Cancer

229

146

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“…2 In a patient with a deletion, second mutations that lead to homo-or hemizygosity, such as mitotic recombination or non-disjunction, will result in homozygous loss of all genes within the deleted region. If a patient's deletion contains a gene essential for basic cellular functions, fewer tumor foci will develop because only those second mutations will trigger tumor formation that leave the single copy of this gene intact.…”

Section: Discussionmentioning

confidence: 99%

“…1 It has been reported that the proportion of patients with unilateral Rb in carriers of 13q deletions is higher compared with patients with intragenic loss-of-function mutations. [1][2][3] In addition to Rb, patients with a 13q deletion involving the region 13q14.2 often present with pleiotropic features. On the basis of karyotype-phenotype associations, a classification for patients with a 13q deletion with and without Rb was proposed.…”

Section: Introductionmentioning

confidence: 99%

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

et al. 2011

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Patients with an interstitial 13q deletion that contains the RB1 gene show retinoblastoma and variable clinical features. Relationship between phenotypic expression and loss of specific neighboring genes are unresolved, yet. We obtained clinical, cytogenetic and molecular data in 63 patients with an interstitial 13q deletion involving RB1. Whole-genome array analysis or customized high-resolution array analysis for 13q14.11q14.3 was performed in 38 patients, and cytogenetic analysis was performed in 54 patients. Deletion sizes ranged between 4.2 kb and more than 33.43 Mb; breakpoints were non-recurrent. Sequence analysis of deletion junctions in five patients revealed microhomology and insertion of 2-34 base pairs suggestive of non-homologous end joining. Milder phenotypic expression of retinoblastoma was observed in patients with deletions larger than 1 Mb, which contained the MED4 gene. Clinical features were compared between patients with small (within 13q14), medium (within 13q12.3q21.2) and large (within 13q12q31.2) deletions. Patients with a small deletion can show macrocephaly, tall stature, obesity, motor and/or speech delay. Patients with a medium deletion show characteristic facial features, mild to moderate psychomotor delay, short stature and microcephaly. Patients with a large deletion have characteristic craniofacial dysmorphism, short stature, microcephaly, mild to severe psychomotor delay, hypotonia, constipation and feeding problems. Additional features included deafness, seizures and brain and heart anomalies. We found no correlation between clinical features and parental origin of the deletion. Our data suggest that hemizygous loss of NUFIP1 and PCDH8 may contribute to psychomotor delay, deletion of MTLR1 to microcephaly and loss of EDNRB to feeding difficulties and deafness.

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“…There is no difference in incidence according to gender or race. All cases are caused by inactivation of a tumour suppressor gene (RB) and in all cases of bilateral retinoblastoma and 15% of unilateral retinoblastoma cases the disease is due to a germ line mutation (Bunin et al 1989;Smith & O'Brien 1996;Classon & Harlow 2002).…”

Section: Retinoblastomamentioning

confidence: 99%

Primary and secondary tumours of the optic nerve, with emphasis on invasion by uveal malignant melanoma

Lindegaard

2007

Acta Ophthalmologica Scandinavica

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Tumours of the optic nerve may originate in the optic nerve itself (i.e. primary tumours) or in structures adjacent to the optic nerve (i.e. secondary tumours). Furthermore, leukaemic infiltration and tumour metastases from distant solid tumours are also found in the optic nerve (i.e. secondary tumours). Large surveys have described primary optic nerve tumours and their treatment modalities, whereas secondary tumours have received little attention. Most reported work-ups have been based on material from referral centres and specialized departments.The correlation between invasion of the optic nerve in uveal melanoma and the risk of death from the disease has not been fully elucidated. The impact on prognosis may be correlated with tumour cells left in the proximal nerve after enucleation. In addition, melanoma with secondary invasion of the optic nerve may represent a highly malignant invasive subcategory of uveal melanoma. Clinical factors that make the ophthalmologist aware of optic nerve invasion when investigating a uveal melanoma are most important.Melanomas that invade the optic nerve may histopathologically display different invasive patterns and represent different types of uveal melanoma. A subtype of uveal melanoma with a preponderance for neural invasion may exist. Such a subtype has been identified for cutaneous melanoma (desmoplastic ⁄ neurotropic).In order to investigate tumours of the optic nerve in a known population, we studied all optic nerve tumours that had been surgically removed in Denmark over a period of 25 years. Furthermore, in order to resolve questions about secondary invasion of the optic nerve in uveal melanoma, we investigated all eyes with uveal melanoma and optic nerve invasion enucleated in Denmark between 1942 and 2001 (n ¼ 157).Tumours of the optic nerve in children were dominated by optic glioma and invasion from retinoblastoma, whereas tumours in adults mainly comprised optic nerve sheath meningioma and invasion from uveal melanoma.Optic nerve invasion of uveal melanoma was found in one in 20 patients. Increased IOP and juxtapapillary location were associated with both pre-laminar ⁄ laminar and post-laminar invasion of the optic nerve. Furthermore, ageReuse of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation. Acta Ophthalmologica Scandinavica 20071 over 70 years, vision reduced to light perception, non-visible fundus and large tumour size were associated with post-laminar invasion. Only patients with optic nerve invasion had metastases to the CNS, kidney and heart. Histopathological features associated with optic nerve invasion were focal retinal invasion, neovascularization of the chamber angle and scleral invasion. Furthermore, non-spindle cell type and rupture of the ILM were all associated with post-laminar invasion.The optic nerve was invaded in four different ways:(1) by tumour extension from the neuroretina through the lamina cribrosa; (2) by direct extension into the optic ...

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Frequency of 13q Abnormalities Among 203 Patients With Retinoblastoma

Cited by 71 publications

References 0 publications

An estimate of the heritable fraction of childhood cancer

An estimate of the heritable fraction of childhood cancer

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

Primary and secondary tumours of the optic nerve, with emphasis on invasion by uveal malignant melanoma

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