Cases reported "Isochromosomes"

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1/4. fluorescence in situ hybridization study of chromosome 7 aberrations in hepatosplenic T-cell lymphoma: isochromosome 7q as a common abnormality accumulating in forms with features of cytologic progression.

    Hepatosplenic gamma delta T-cell lymphoma (HS gamma delta TCL) is a rare and aggressive subtype of peripheral T-cell lymphoma that has been associated cytogenetically with the isochromosome 7q [i(7)(q10)]. The incidence of this aberration and its relevance to pathogenesis of HS gamma delta TCL is still unknown. We investigated the status of chromosome 7 in 12 HSTCL cases, including nine with a typical gamma delta phenotype, one with a so-called T-cell receptor (TCR)-silent phenotype, and two with the variant alpha beta phenotype. We analyzed available fresh and archival material using a dual-color interphase fluorescence in situ hybridization (FISH) approach with 7p and 7q probes. A significant population of cells with predominance of 7q signals was detected in 10 cases (eight gamma delta, one alpha beta, and one TCR silent), and two lymphomas did not show clonal 7p/7q signal imbalances. In four of 10 cases with chromosome 7 aberrations, a hybridization pattern indicative of the presence of one chromosome 7 and one i(7)(q10) was found. In four other cases, the configuration of signals (2 x 7p/3 x 7q) suggested the presence of the i(7)(q10) and additional structural aberrations involving the second chromosome 7. In two cases, including one alpha beta phenotypic variant, a variety of FISH patterns equivalent to two to five copies of i(7)(q10) or numerical and structural aberrations of second chromosome 7 has been detected. These findings support cytogenetic data pointing to a characteristic association of i(7)(q10) with HSTCL, irrespective of the immunophenotype of malignant cells. An increased number of 7q signals was found in three cases with cytologic features of progression, indicating a tendency of HSTCL to multiply the i(7)(q10) chromosome during evolution.
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2/4. Transient myelodysplastic syndrome associated with isochromosome 7q abnormality.

    Myelodysplastic syndrome (MDS) in childhood is a rare hematological condition that is often associated with cytogenetic abnormalities, the most common being monosomy 7/del(7q). The clinical course of MDS can vary from stable disease to rapid progression into acute leukemia. Rarely, spontaneous remission of MDS has been observed. The authors report the first case of a transient MDS associated with a clonal marrow cytogenetic abnormality consisting of isochromosome 7q in a previously well child. Without intervention, the bone marrow cytogenetics reverted to normal and there was complete hematologic recovery. This case illustrates the importance of close follow-up in a child presenting with MDS, to detect spontaneous recovery or evolution of the disease.
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3/4. Isochromosome 7q in adult Wilms' tumor.

    We describe cytogenetic and histologic findings in a Wilms' tumor resected from a 37-year-old man. The tumor karyotype was 45,X,-Y,i(7)(q10). These findings are notable because overrepresentation of chromosome 7 long arm material, i(7)(q10) in particular, has been described recently as a nonrandom event in pediatric Wilms' tumors. The present case suggests a shared genetic pathway in the initiation or progression of some pediatric and adult Wilms' tumors.
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4/4. A case of chronic myelomonocytic leukemia with isochromosome 14q.

    A 72-year-old man with increased monocytes and eosinophils in the bone marrow was found to have an isochromosome, i(14q), as the sole abnormality on bone-marrow cytogenetics. Follow-up over 12 months with repeat cytogenetic testing of bone marrow specimens on three further occasions showed an additional abnormality consisting of an apparently balanced translocation, t(6;21)(p21.1; q22). This abnormality, together with other features, indicated disease progression. A review of seven reported cases of i(14q) revealed limited follow-up information.
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