Cytogenetic forms of retinoblastoma: Their incidence in a survey of 66 patients

Turleau, C; Grouchy, J. de; Chavin-Colin, F; Junien, Claudine; Seger, J; Schlienger, P; Leblanc, Antoine; Haye, C

doi:10.1016/0165-4608(85)90240-7

Cited by 64 publications

(28 citation statements)

References 28 publications

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“…Tetrasomy 6p rearrangement presenting as i6p is considered to be almost exclusive to retinoblastoma (Murphree and Benedict, 1985) and additional copies of chromosome 6p have been found in 25-60% of retinoblastomas (Squire et al, 1984;Turleau et al, 1995;Oliveros and Yunis, 1995). The presence of i6p may represent an important genetic change in the development or progression of retinoblastoma (Kusnetsova et al, 1982;Squire et al, 1984).…”

Section: Other Genetic Alterations In Retinoblastomamentioning

confidence: 99%

pRb2/p130: a new candidate for retinoblastoma tumor formation

Falco

Giordano

2006

Oncogene

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Retinoblastoma is the most common primary intraocular tumor in childhood. Mutations in both the alleles of the RB1 gene represent the causative agent for the tumor to occur. It is becoming evident that, although these alterations represent key events in the genesis of retinoblastoma, they are not sufficient per se for the tumor to develop, and other additional genetic or epigenetic alterations must occur. A supportive role in the genesis of retinoblastoma has recently been proposed for the RB1-related gene RB2/ p130. Additionally, several other genetic alterations involving different chromosomes have been described as relevant in the tumorigenic process. In this review we will analyse current knowledge about the molecular mechanisms involved in retinoblastoma, paying particular attention to the mechanisms of inactivation of the biological function of the retinoblastoma family of proteins.

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Section: Other Genetic Alterations In Retinoblastomamentioning

confidence: 99%

pRb2/p130: a new candidate for retinoblastoma tumor formation

Falco

Giordano

2006

Oncogene

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“…However the late mean age might be misleading because of several factors (Cowell and Hogg 1992). The incidence of the detectable chromosomal forms in blood lymphocytes of Rb lie between 5% to 10% in cytogenetic surveys and this has increased with improved banding procedures (Turleau et al 1985, Turleau andde Grouchy 1987). The proportions with deletions ranged from 4% to 33% in the earlier reports (Greta et al 1989).…”

Section: Discussionmentioning

confidence: 97%

“…However to identify constitutional mutation carriers, the cytogenetic screening has its place and a routine chromosomal analysis of Rb patients is needed especially in Indian population. The chromosomal surveys of Rb patients in various populations have given information about geographical, racial and influence on disease manifestation and relevance of chromosomal anomalies (Motegi 1981, Salamanca-Gomez et al 1984, Turleau et al 1985, Greta et al 1989). The present study confirms that incidence of Rb with deletion showed no variations among populations.…”

Section: Discussionmentioning

confidence: 99%

Incidence of 13q Deletion among 50 Patients with Retinoblastoma in Indian Population.

Manjunath

Thomas²

1997

CYTOLOGIA

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“…[14][15][16][17] Variable constitutional chromosomal abnormalities have been reported with a possible to definite association with hematologic malignancies, including trisomy 8, trisomy 21. [10][11][12] In addition to these aneuploidy or large defects in chromosomes, constitutional structural rearrangements also have been reported, suggesting the association with hematologic malignancies.…”

Section: Discussionmentioning

confidence: 99%

A Case of Acute Promyelocytic Leukemia with PML/RARA Translocation Showing Familial t(9;15)(q34;q22)

et al. 2007

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We report the unusual case of an APL patient with a familial t(9;15)(q34;q22) and acquired t(15;17) (q22;q21). This is unique in that the patient had a constitutional abnormality with the same breakpoints as those observed in the tumor clone from the APL. It is unclear if the breakpoint, 15q22, in the constitutional aberration influenced the induction of the PML/RARA translocation in the APL. If a specific translocation in a patient with leukemia does not go away with clinical improvement, a congenital or familial chromosomal abnormality should be considered. Additional patients with similar findings are needed to understand the pathogenesis of these events.

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Cytogenetic forms of retinoblastoma: Their incidence in a survey of 66 patients

Cited by 64 publications

References 28 publications

pRb2/p130: a new candidate for retinoblastoma tumor formation

pRb2/p130: a new candidate for retinoblastoma tumor formation

Incidence of 13q Deletion among 50 Patients with Retinoblastoma in Indian Population.

A Case of Acute Promyelocytic Leukemia with PML/RARA Translocation Showing Familial t(9;15)(q34;q22)

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