RESUMEN
Gene amplification (amp) is one of the basic mechanisms connected with overexpression of oncogenes. The c-MYC (located in 8q24) and MLL (located in 11q23) are the most often over represented genes that lead to a rapid proliferation of the affected cell clone in patients with myeloid neoplasms. Assessment of the level of amp c-MYC or amp MLL in the cases with trisomy 8 (+8) or trisomy 11 (+11) and myeloid malignances is necessary for a more precise estimation of the disease progression. A total of 26 patients with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) were included in the study: 18 with +8, six with +11 and two with complex karyotypes suspected of the partial trisomy. Routine cytogenetic analysis and fluorescent in situ hybridization (FISH) were applied to indicate the chromosome alterations and genes amp in the bone marrow cells. Amp c-MYC was observed in 12 from 18 (66.7%) patients with +8. All the patients with +11 demonstrated a different level of amp MLL. In most of the cases with MDS (9/10), the coincidence of the +8 or +11 with amp c-MYC or amp MLL, respectively, leads to transformation to AML and/or short overall survival. Our data suggest that amp c-MYC and amp MLL develop in conformity with +8 and +11, especially in cases with progressive deviations in the karyotype as an aggressive expansion of an aberrant cell clone and appearance of additional chromosome anomalies.
RESUMEN
We report on a case of a 30-year-old male with acute B-lymphoblastic leukemia (B-ALL) with immunophenotype CD19(+), CD22(+), CD20(+), CD10(+), with aberrant expression of CD13 and CD117, and IgH gene rearrangements. Three months after treatment with GMALL-2003 and Ida/FLAG protocols bone marrow showed predominance of blasts with myeloid morphology and phenotype MPO(+), CD13(+), CD33(+), CD64(+), CD15(+), CD56(+), EVI-1 gene overexpression and lack of IgH rearrangements. The case is the first report of a very early emergence of myeloid leukemia during the induction treatment for B-ALL in an adult patient. Different pathogenetic mechanisms are discussed - clonal evolution or selection, lineage switch or development of a de novo or therapy-induced leukemia.
Asunto(s)
Leucemia de Células B/complicaciones , Leucemia Mieloide Aguda/complicaciones , Adulto , Resultado Fatal , Reordenamiento Génico de Linfocito B , Genes de Inmunoglobulinas/genética , Humanos , Leucemia de Células B/patología , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patología , MasculinoRESUMEN
Inspite of the detailed description of the iliopsoas muscle complex, interesting variations of its main parts--the psoas major and the iliacus muscles can still be encountered. These variations may clarify some aspects of the embryological development of the iliopsoas and have certain clinical importance because of the frequent co-existence with an unusual femoral nerve by its formation and course. We present in our report a case of bilateral variations of the psoas major and the iliacus muscles combined with variations of the left and the right femoral nerves, which were found during the anatomical dissection of a female human cadaver. The most remarkable finding was noted on the left side, where an undescribed variant muscle accessory iliopsoas, was observed. It was the only finding of such a muscle among 108 human cadavers examined over a period of 22 years. The accessory iliopsoas was formed by the connection of two accessory muscles--accessory psoas major and accessory iliacus. The clinical significance of the described variant muscles and their importance as an additional factor in the femoral neuropathy are also a matter of discussion in our report.