National Cancer Institute®
Last Modified: February 1, 2002
UI - 11697628
AU - Hofmann WK; Tsukasaki K; Takeuchi N; Takeuchi S; Koeffler HP
TI - Methylation analysis of cell cycle control genes in adult T-cell leukemia/lymphoma.
SO - Leuk Lymphoma 2001 Sep-Oct;42(5):1107-9
AD - Division of Hematology/Oncology, Cedars-Sinai Research Institute, UCLA School of Medicine, Los Angeles, California 90048, USA.
Central to many cancers is the aberrant expression of genes that regulate the cell cycle including the cyclin-dependent kinase inhibitors known as p15INK4b and p16INK4a, p14ARF and the retinoblastoma (RB) protein. We performed a detailed analysis of the methylation status of these genes by methylation specific polymerase chain reaction (MSP) in tumor cells of 35 adult T-cell leukemia/lymphoma (ATL) patients. We found in nine of 35 cases (26%) at least one gene methylated. The frequency of p15INK4b methylation was 7 of 35 (20%). The incidence of methylation of p14ARF and p16INK4a was two of 35 (6%) and one of 35 (3%), respectively. The RB gene was not found to be methylated in any of the ATL samples. The data indicate that inactivation of these cell cycle regulatory genes by hypermethylation is important in the development of ATL.
UI - 11812445
AU - Laquis SJ; Rodriguez-Galindo C; Wilson MW; Fleming JC; Haik BG
TI - Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome.
SO - Am J Ophthalmol 2002 Feb;133(2):285-7
AD - Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.
PURPOSE: To report a patient with an X;13 translocation and facial features of 13q-syndrome who developed retinoblastoma. DESIGN: Observational case report. METHODS: A 9-month-old girl known to have an X;13 chromosomal translocation with a break point at 13q12.1 and dysmorphic facial features characteristic of 13q-syndrome presented with leukocoria in her right eye. RESULTS: By clinical examination, retinoblastoma was diagnosed in the right eye. CONCLUSION: Chromosomal abnormalities on the long arm of chromosome 13 predispose to retinoblastoma formation and characteristic facial features.
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