Interstitial deletion of 13q and a 13;X chromosome translocation results in partial trisomy 13 and bilateral retinoblastoma

Dries, David J.; Baca, Katrina; Truss, Lisa; Dobin, Sheila M.

doi:10.1076/opge.24.3.175.15612

Cited by 10 publications

(7 citation statements)

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“…All of these changes have been described in RB but systematic correlations with clinical data have never been carried out. (5,(19)(20)(21)(22) In accordance with previous data, we found recurrent imbalances on chromosomes 1, 2, 6, 13, and 16 ( Table 2). (9) Three previously undescribed recurrent rearrangements were identified, two on chromosome 9 and one on chromosome 11 ( Table 2).…”

Section: Discussionsupporting

confidence: 92%

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Array comparative genomic hybridization in retinoma and retinoblastoma tissues

et al. 2009

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In retinoblastoma, two RB1 mutations are necessary for tumor development. Recurrent genomic rearrangements may represent subsequent events required for retinoblastoma progression. Array-comparative genomic hybridization was carried out in 18 eye samples, 10 from bilateral and eight from unilateral retinoblastoma patients. Two unilateral cases also showed areas of retinoma. The most frequent imbalance in retinoblastomas was 6p gain (40%), followed by gains at 1q12-q25.3, 2p24.3-p24.2, 9q22.2, and 9q33.1 and losses at 11q24.3, 13q13.2-q22.3, and 16q12.1-q21. Bilateral cases showed a lower number of imbalances than unilateral cases (P = 0.002). Unilateral cases were divided into low-level (£4) and high-level (³7) chromosomal instability groups. The first group presented with younger age at diagnosis (mean 511 days) compared with the second group (mean 1606 days). In one retinoma case ophthalmoscopically diagnosed as a benign lesion no rearrangements were detected, whereas the adjacent retinoblastoma displayed seven aberrations. The other retinoma case identified by retrospective histopathological examination shared three rearrangements with the adjacent retinoblastoma. Two other gene-free rearrangements were retinoma specific. One rearrangement, dup5p, was retinoblastoma specific and included the SKP2 gene. Genomic profiling indicated that the first retinoma was a pretumoral lesion, whereas the other represents a subclone of cells bearing 'benign' rearrangements overwhelmed by another subclone presenting aberrations with higher 'oncogenic' potential. In summary, the present study shows that bilateral and unilateral retinoblastoma have different chromosomal instability that correlates with the age of tumor onset in unilateral cases. This is the first report of genomic profiling in retinoma tissue, shedding light on the different nature of lesions named 'retinoma'. (Cancer Sci 2009; 100: 465-471) R etinoblastoma (RB, OMIM#180200) is the most common primary intraocular malignancy in children, initiated by the inactivation of both alleles of the RB1 tumor-suppressor gene. (1,2) Approximately 40% of RB patients carry a predisposing germline mutation transmitted as an autosomal-dominant trait. In these patients, inactivation of the second RB1 allele occurs in the retinal cells and generally results in multiple and often bilateral tumors. In the remaining 60% of children, both mutational events occur in the same retinal cell leading to unilateral sporadic RB. Retinoma (RN), a benign retinal lesion, is considered to be the precursor of RB.(4,5) Unlike RB, which is typically opaque white, RN appears as a translucent gray retinal mass, frequently associated with calcification and retinal pigment epithelial hyperplasia. (6) The histopathology of RN includes foci of photoreceptor differentiation (fleurettes), momomorphic round nuclei, abundant fibrillar eosinophilic stroma, and absence of mitotic activity.Recently, it has been demonstrated that the two mutational events inactivating the RB1 gene are already present in RN.(4) U...

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Section: Discussionsupporting

confidence: 92%

“…All of these changes have been described in RB but systematic correlations with clinical data have never been carried out. ( 5,19–22 )…”

Section: Discussionmentioning

confidence: 99%

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

et al. 2009

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“…Colobomas have been associated with chromosomal abnormalities involving chromosomes X and 13 [4,5], both of which have been implicated in mechanisms of Rb tumorigenesis [6,7]. While no gene has been identified for AS, the syndrome is presumably inherited in an X-linked dominant fashion [2].…”

Section: Discussionmentioning

confidence: 99%

“…Due to the presentation of a wide range of phenotypes and severities, X-chromosome inactivation (XCI) has been proposed as a probable cause of AS [2]. Several cases of XCI and 13q inactivation due to X:13 translocations have been reported in cases of Rb [6,8,9,10]. Thus, it would be interesting to determine if a combination of XCI and X:13 translocation could serve as a possible link between the Rb and AS.…”

Section: Discussionmentioning

confidence: 99%

Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome

et al. 2016

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Background/Aims: Retinoblastoma (Rb) generally presents in children <8 years of age. Aicardi syndrome (AS) is a congenital, neurodevelopmental disorder that has been associated with various ophthalmic abnormalities, but no reports have related it to a delayed presentation of Rb. This report describes the late presentation of Rb in a teenage patient with AS and suggests modifications in ophthalmic screening to facilitate early detection. Methods: A chart review was conducted of a patient with AS. We examined the ophthalmic history, fundus images and B-scan ultrasonography. Histopathological analysis was conducted on globe sections. Results: The patient's ophthalmic history was consistent with normal findings of AS: fundus images and B-scan ultrasonography revealed chorioretinal lacunae and an area of retinal detachment, respectively. The patient presented with chronic irritation and mydriasis of the blind left eye. This was enucleated as treatment. Histopathology revealed a focally differentiated Rb. Immunohistochemistry demonstrated that the tumor cells were positive for synaptophysin and negative for the wild-type Rb protein, and a high Ki-67 proliferation index was shown. Conclusion: Our patient was diagnosed with Rb at age 16. AS has been associated with numerous ophthalmic findings, but this is the first report relating it to a late Rb presentation. Meticulous ophthalmic examinations should be considered through the teenage years and early adulthood of AS patients.

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“…In 2001, Bojinova et al (2001) extended the facial phenotype associated with the 13q14 deletion syndrome with the description of additional 13 patients characterized by cranial anomalies, frontal bossing, deeply grooved and long philtrum, depressed and broad nasal bridge, bulbous tip of the nose, thin upper lip, broad cheeks, and large ears and lobules. Afterward, a patient with a X:13 translocation and phenotypic features peculiar to the 13q14 deletion syndrome was described (Dries et al 2003). Finally, in 2004, a patient with retinoblastoma, pinealoma and mild multiple congenital anomalies/mental retardation syndrome (MCA/MR) and a germline 13q14 deletion were reported (Skrypnyk and Bartsch 2004).…”

Section: Introductionmentioning

confidence: 99%