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1.
Acta Haematol ; 130(1): 23-6, 2013.
Article in English | MEDLINE | ID: mdl-23363773

ABSTRACT

Acute promyelocytic leukemia (APL) is usually associated with a favorable outcome, but about 10% of patients tend to relapse. The genetic hallmark of APL is a balanced translocation involving chromosomes 15 and 17, and the PML-RARa gene fusion is found in more than 90% of these cases. Other chromosomal abnormalities are commonly found in APL, but their clinical significance has yet to be determined. Here we report a case of childhood APL that was studied by conventional cytogenetics along with molecular cytogenetic techniques. The patient showed a complex karyotype with an unusual cytogenetic rearrangement originating from two different abnormalities in a single chromosome 6. Our case is an exceptional example of a cryptic cytogenetic anomaly in APL and underscores the importance of detailed genetic characterization.


Subject(s)
Chromosomes, Human, Pair 6 , Gene Rearrangement , Leukemia, Promyelocytic, Acute/genetics , Translocation, Genetic/genetics , Child , Chromosome Banding , Chromosomes, Human, Pair 15 , Chromosomes, Human, Pair 17 , Humans , In Situ Hybridization, Fluorescence , Male
2.
Genet Mol Res ; 11(2): 1666-70, 2012 Jun 15.
Article in English | MEDLINE | ID: mdl-22782586

ABSTRACT

We describe a case of retinoblastoma with an atypical presentation and previously unreported cytogenetic aberrations. A 19-month-old girl with left intraocular retinoblastoma was treated with enucleation and chemotherapy. The disease showed aggressive evolution within a short period between diagnosis and relapse. Eight months after diagnosis, a new large tumor was present in the orbit of the right eye, with diffuse bone pain, pancytopenia and diffuse infiltration into the bone marrow and the central nervous system. The child did not respond to treatment and died. Cytogenetic studies made with G-banding, FISH and SKY analysis showed chromosomal aberrations commonly associated with retinoblastoma, including del(13q), i(6p), +1, and monosomy 16, along with others that had not been reported previously, including dup(5q), dic(15;22) and add(14q). The new chromosomal aberrations may be related to the aggressiveness of the disease in this case.


Subject(s)
Retinoblastoma/genetics , Retinoblastoma/pathology , Chromosome Aberrations , Female , Humans , Infant
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