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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1988), S. 69-71 
    ISSN: 1432-1076
    Keywords: Tumour cytogenetics ; Specific chromosome translocation ; Alveolar rhabdomyosarcoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Chromosome analysis of tumour cells in the bone marrow of a 13.5-year-old girl (without a primary tumour) revealed a pseudo-diploid or pseudo-tetraploid karyotype with a translocation involving the long arms of chromosomes 2 and 13: t(2;13) (q37;q14). This finding enabled the diagnosis of a disseminated alveolar rhabdomyosarcoma (RMS) to be established. The patient was treated by cytotoxic chemotherapy, went into complete remission, but died of relapse 14 months after diagnosis. As several cases with this translocation have been described recently, this additional report confirms that t(2;13) is specific for the alveolar subtype of RMS.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0584
    Keywords: Acute childhood lymphoblastic leukemia ; T-cell immunophenotype ; Chromosome 14q11 anomaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Ten patients with T-cell acute lymphoblastic leukemia (ALL) and a chromosome anomaly involving band 14q11 are described. Mitotic index of bone marrow blasts was high in all patients (average 3.0%). Lymphoid morphology of the leukemic blasts, however, varied somewhat among the patients. The leukemic cells of 5 patients showed an immunophenotypic profile corresponding to early or common thymic differentiation stages whereas 5 children showed strong expression of CD3 suggesting a more mature thymic phenotype. Leukemic karyotypes revealed a modal chromosome number of 46 in 9 cases, 92 in one case. A chromosome translocation t(11; 14) (p13; q11) was found in 5 cases, a t(1; 14) (p32; q11) in 2 cases, a t(10; 14) (q24; q11) in one case, a (hitherto undescribed) t(12; 14) (q22; q11) in one case, and an inv(14) (q11 q32) in one patient. Additional abnormalities were t(3; 10), t(7; 9), dup (7q), del (6q), del (10q), and del (1 q). Of 32 cases with T-cell ALL successfully karyotyped in our laboratory 15 (=47%) had structural aberrations involving chromosomes 1, 3, 6, 7, 9, 10, 12, 14. Ten of these 15 patients (=67%) had a chromosome 14q11 anomaly. It is concluded that chromosome band 14q11, the gene locus of the T-cell receptor α-chain, is the most common site for structural chromosome aberrations in T-cell ALL.
    Type of Medium: Electronic Resource
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