Mladen Ćepulić

Cytogenetic analysis of hepatoblastoma

A cytogenetic investigation was performed in a case of hepatoblastoma; the analyses revealed a pseudodiploid karyotype.

Cytogenetic analysis in ataxia telangiectasia with malignant lymphoma

We present the results of cytogenetic analysis in a brother and sister with ataxia telangiectasia (AT), one of whom had malignant T-cell lymphoma. In both children, cytogenetic analysis of phytohemagglutinin (PHA)-stimulated lymphocytes showed chromosomal instability and inv(7) in 10% of the cells examined. The malignant lymphoma was analyzed cytogenetically on slides obtained from short-term culture of the lymph node cells; 64 cells were analyzed. A heterogeneous cell population was noted. Fourteen cells (21.9%) had a normal male karyotype; t(7;14)(p14;q12) and inv(7)(p14q35) were observed in 6.3% and 3.1% of metaphases. Owing to low frequency, these cells are probably a characteristic of the basic disease and have no features of malignant cells. Forty cells (62.5%) had a pseudodiploid karyotype 46,XY,dup(1)(p22p36),del(5)(q33),del(12)(p11), without cytogenetically evident aberrations of chromosomes 7 and 14. The results of these investigations suggest that the cells with rearrangements of chromosomes 1, 5, and 12 are malignant cells and did not originate by transformation of cells with inv(7) and t(7;14).

Variability of chromosomes 1, 9, and 16 in children with malignant diseases

Heterochromatic segments of chromosomes #1, #9, and #16 were analyzed in 38 children with malignant disease and 42 healthy persons. The analysis was carried out on C-banded metaphases obtained by peripheral blood culture. Using a quantitative method of analysis, an association was established between C-segment length of chromosome #9 and malignant disease in children. A disturbed quantitative relation of C-heterochromatin of chromosomes #1, #9, and #16 was also found in the group of children with malignant disease.

Cytogenetic analysis of primary neuroblastoma with del(1), del(14), hsr, and dmin chromosomes

The results of a direct cytogenetic tumor analysis in a 2 1/2-year-old girl with metastatic neuroblastoma are presented in this paper. Investigations established a modal karyotype of 46 chromosomes with several marker chromosomes. Besides del(1)(p31), hsr, and dmin chromosomes in all the cells analyzed, terminal deletion of the long arm of chromosome 14 was also identified. Malignant cells were thus monosomic for segment 14q24----qter.

Direct cytogenetic analysis of primary neuroblastoma

In this paper the results of cytogenetic analysis of a metastatic neuroblastoma from a 14-month-old boy are described. Direct cytogenetic analysis was performed on tumor pieces obtained from surgery prior to therapy. Consistent numerical and structural chromosome aberrations were identified. The modal chromosome number was 48, with 9.4% of the cell population being in the near-tetraploid range. In all karyotyped cells, the Y chromosome was missing and additions of chromosomes 7 and 14 were identified. Two rearranged #1 were observed: del(1)(p22 or p31) and t(1;18)(p22 or p31;q11-12), resulting in monosomy of the distal segment of the short arm and trisomy of the long arm. In two cells, single minutes were found; this chromosomal aberration has been previously described in a case of metastatic neuroblastoma.

Heterochromatic segment length of Y chromosome in 55 boys with malignant diseases

By investigating heterochromatic segment variability in a group of boys with malignant disease a significantly greater value of the Yc:F index in relation to the control subjects was established.

Embryonal rhabdomyosarocoma with 92,XXYY, +dmin and evidence of spontaneous cell fusion

The results of a cytogenetic analysis in an embryonal rhabdomyosarcoma are presented. A tetraploid karyotype with double minute chromosomes (dmin) was identified using a direct method of tumor tissue treatment. In 5% of the examined cells, evidence of spontaneous cell fusion was observed.

Chromosomal analysis of two neuroblastomas

We report the results of cytogenetic analysis in two children with neuroblastoma. The analysis was performed on slides obtained from a 24-hour bone marrow (BM) culture or by a direct method of the primary tumor tissue. The structural and numeric karyotype aberrations were established, including structural aberrations of chromosome 1. The finding of i(1q) and t(1;5)(p22;q13) is of interest because these chromosome aberrations are rare in this type of disease.

Cytogenetic analysis of a child with malignant histocytosis

This report presents the results of cytogenetic analysis of a child with malignant histiocytosis. The analysis was carried out on slides obtained following short-term cultures of peripheral blood cells. The malignant cells had a deletion of the long arm of chromosome #7, 46,XX,del(7)(q22).