Biomedical subjects
Publications and source records attributed to A Meloni.
We report four renal cell carcinomas, grade II, with trisomy 10 (+10) as the only karyotypic change. We propose that this cytogenetic anomaly may be associated with low-grade renal carcinoma, although more cases will have to be studied to support the hypothesis.
We have identified three patients with acute nonlymphocytic leukemia (ANLL), subtypes M2, M4, and M7, who had a t(16;21)(p11.2;q22) in the affected cells. There are six previously reported cases of ANLL with the same t(16;21). The t(6;21) should therefore be included as another primary rearrangement in ANLL. Follow-up of these cases, though still limited, suggests a poor prognosis, as most patients have achieved a clinical remission but only for a short duration.
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We carried out alpha-globin gene analysis by restriction endonuclease mapping in 91 Sardinians with homozygous transfusion-dependent beta 0-thalassemia and correlated the clinical findings with the alpha-globin genotype. In patients (n = 6) with deletion of two alpha-globin structural genes, disease onset and transfusion dependence occur later than in those (n = 50) with a full complement of alpha-globin genes. There was no statistically significant difference in the group of patients (n = 35) with deletion of only one alpha-globin gene. Patients with deletion of two alpha-globin genes had significantly higher Hb A2 levels than those with a full complement of alpha-structural genes and those with deletion of a single alpha-globin gene. From this and other studies, it seems that the deletion of two alpha-globin structural genes may convert the common severe clinical picture associated with homozygous beta 0-thalassemia to milder forms, ranging from a later occurring but still transfusion-dependent type to a non-transfusion-dependent form.
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