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Biomedical subjects

C Mecucci

Publications and source records attributed to C Mecucci.

At least 181 records · Page 10Linked to original sources

Acute nonlymphoblastic leukemia with bone marrow eosinophilia and structural anomaly of chromosome 16.

A patient with acute myelocytic leukemia in relapse presented with t(16;21) (p12;q22). Hematologic studies revealed a large number of abnormal eosinophils in the bone marrow. The complexity of chromosome #16 rearrangements associated with acute nonlymphocytic leukemia and the possible significance of chromosomes #16 and #21 in relation to the concomitant eosinophilia are briefly discussed.

Adult↗

Translocation t(8;10)(q12;p14) in lymphoproliferative disorders.

Cytogenetic studies were performed in two patients with a B-cell lymphoproliferative disease in progressive phase characterized by leukocytosis and important splenomegaly. In both patients an identical chromosome marker derived from a t(8;10)(q12;p14) translocation was found. This chromosome anomaly was associated with other abnormalities characteristic for lymphoid malignancies, i.e. a structural rearrangement of the long arm of chromosome 11 and a 14q+ in both patients. This new t(8;10) translocation may be a marker of accelerated phase in lymphoid disorders.

Aged↗

High incidence of chromosome abnormalities in IgG3 myeloma.

Chromosomes were studied in 33 untreated myeloma patients, and results were correlated with the class of Ig secreted by the myeloma cells. A high incidence of clonal karyotypic anomalies seemed to be present in IgG3 myeloma patients, in whom the disease was advanced at diagnosis and rapidly progressing. Among the chromosome anomalies, the t(11;14)(q14;q32) was particularly prominent, and this chromosome anomaly, in analogy with the Ph1 chromosome, may characterize a family of lymphoproliferative disorders.

Adult↗

Interstitial 9q- deletions in hematologic malignancies.

Sixteen patients with interstitial deletions of the long arm of chromosome #9 (9q-). were studied. From our observations and the findings of ten other cases in the literature, it can be deduced that the anomaly is almost exclusively found in myeloproliferative disorders and that it rarely occurs as the sole anomaly; however, in more than one-third of the cases, it was associated with a t(8;21) and occurred as a secondary event. The deletion appears to be interstitial, the breakpoints are somewhat variable, and the region carrying the abl oncogene was never involved.

Acute Disease↗

Translocation t(11;14) and trisomy 11q13----qter in multiple myeloma.

A 14q+ marker with extra material derived from chromosome 11 long arm, i.e. segment q13----qter, has been found in cells from a pleural effusion in a patient with highly malignant multiple myeloma. The segment 11q13----qter was trisomic because of the presence of both apparently normal homologous chromosomes 11.

Aged↗

Acute myeloblastic leukemia after adjuvant chemotherapy with melphalan in breast cancer. Case report with cytogenetic analysis.

Therapy of solid and hematologic tumors with alkylating agents appears to increase the frequency of acute non-lymphocytic leukemia (ANLL), as indicated by the cases reported in the literature. The carcinogenetic mechanism of alkylating agents seems related to their ability to damage DNA, and this is supported by the findings of multiple cytogenetic abnormalities in these patients. We report a case of ANLL secondary to therapy with melphalan, which was utilized on an adjuvant basis for breast cancer. ANLL developed 24 months after chemotherapy was discontinued. Results of the cytogenetic analysis in our patient showed multiple rearrangements and marker chromosomes. Among these was a large metacentric chromosome, identified in 6 of 8 karyotypes, in the size range of group A, which probably resulted from a translocation t(7;14) (7qter leads to 7p11::14p11 leads to 14qter). The natural history of the underlying disease and of the ANLL in our patient and data from chromosomal analysis seem to confirm the hypothesis that alkylating agents are potentially leukemogenic in man, probably through genetic damage. This possibility should be considered when such cytotoxic drugs are used in an adjuvant setting.

Breast Neoplasms↗

3q-, 3q+ anomaly in malignant proliferations in humans.

Anomalies of both No. 3 chromosomes, of the t(3q-; 3q+) type can be observed in human malignancy as reported previously. It is our experience that this anomaly is found predominantly in myeloproliferative disorders, as a rather rare event, though occurring more frequently than similar exchanges between other homologous chromosomes. Previous claims about a relationship between this anomaly and thrombocytosis could not be confirmed, but the features found in a few patients indicate that further research should be undertaken to clarify this point.

Adult↗

Cytogenetics of myelodysplastic syndromes.

This review focuses on karyotypic and molecular findings of myelodysplastic syndromes (MDS). Genetic entities are distinct on the basis of structural (deletions, translocations, inversions) or numerical chromosomal abnormalities (trisomies, monosomies). New information about the amount and nature of malignant cells in MDS, as well as of genes rearranging in specific translocations, recently provided by molecular cytogenetics, are analysed. Integration of clinical-haematological classifications with cytogenetic and molecular findings is discussed

Adult↗