RESUMEN
We report a case of acute myeloid leukemia (AML-M2) expressing myeloperoxidase (MPO) but no myeloid antigens. A few cases with this discordant phenotype have been reported and an association has been suggested between the lack of CD13 and CD33 in MPO positive AML and the presence of t(8;21). Cytogenetic and molecular analyses performed in our case showed 48,XY,+Y,+8,t(2;9)(q14;p12). We believe that combined approaches can contribute to detect particular AL cases like the present one, that confirms the heterogeneity of AML. However, further studies are needed to clarify the relationship between phenotypic aberrations and cytogenetic abnormalities.
Asunto(s)
Cromosomas Humanos Par 2 , Cromosomas Humanos Par 9 , Leucemia Mieloide Aguda/genética , Peroxidasa/metabolismo , Translocación Genética , Adulto , Anciano , Antígenos CD/análisis , Antígenos de Diferenciación Mielomonocítica/análisis , Antígenos CD13/análisis , Niño , Humanos , Leucemia Mieloide Aguda/enzimología , Leucemia Mieloide Aguda/inmunología , Persona de Mediana Edad , Lectina 3 Similar a Ig de Unión al Ácido SiálicoRESUMEN
Lipoblastoma is a rare benign adipose tumor which, in all of the cases so far described, presents an involvement of chromosome 8 in the region 8q11-13. We hereby report the results of the second case of lipoblastoma studied by fluorescence in situ hybridization (FISH), in a 13-month-old boy. An abnormal karyotype 46,XY,t(7;8)(q31;q13) was found in 90% of the metaphases examined, in agreement with the previously reported observations. We suggest the region 8q11-13 may contain a relevant locus for lipoblastoma origin.
Asunto(s)
Cromosomas Humanos Par 7 , Cromosomas Humanos Par 8 , Lipoma/genética , Translocación Genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Cariotipificación , Lipoma/patología , MasculinoRESUMEN
Twenty nine hybrids retaining fragments of human chromosome 2 were characterized by reverse-FISH and by a panel of 106 STSs. Most of the hybrids are radiation hybrids retaining fragments of chromosome 2 as the only human contribution. The hybrid panel dissected chromosome 2 in 69 distinct physical regions, allowing a fine mapping of the sequences. These hybrids are particularly useful as starting points for generation, via Alu-PCR, of specific partial chromosome paints (PCP). We also report the mapping by FISH of 60 YACs located on chromosome 2. These resources can be advantageously used in cytogenetic investigations, with particular reference to cancer cytogenetics, as illustrated with the renal carcinoma cell line KRC/Y.