title: Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma.
abstract: Hepatosplenic T-cell lymphoma is rare, and most cases that have been reported with cytogenetic abnormalities have an isochromosome 7q with or without trisomy 8. A 7-year-old boy who had hepatomegaly and splenomegaly was diagnosed with hepatosplenic T-cell lymphoma on the basis of a bone marrow biopsy. The karyotype of the lymphoma cells at diagnosis included a ring chromosome 7 and trisomy 8. Fluorescence in situ hybridization analysis with chromosome 7 probes demonstrated amplification of a 7q31 sequence in the ring chromosome. While isochromosome 7q is a common abnormality in hepatosplenic T-cell lymphoma, and other structurally abnormal chromosomes 7 have been reported in a small number of cases, this is the first reported case of ring chromosome in hepatosplenic T-cell lymphoma.
authors.affiliation: Department of Medical Genetics, Alberta Children's Hospital, 2888 Shaganappi Trail NW, Calgary, AB Canada T3B 6A8.
authors.forename: Shashirekha
authors.initials: S
authors.lastname: Shetty
authors.forename: Adnan
authors.initials: A
authors.lastname: Mansoor
authors.forename: Birgitte
authors.initials: B
authors.lastname: Roland
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure; D002898:Chromosomes, Human, Pair 8; D006529:Hepatomegaly; D006801:Humans; D008113:Liver Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016399:Lymphoma, T-Cell / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D012303:Ring Chromosomes; D013160:Splenic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013163:Splenomegaly; D014314:Trisomy