Clinical use of the bcr/abl probe test in the evaluation of chronic myeloid leukemia patients.

CML is characterized by a reciprocal translocation between the abl and bcr genes on chromosomes 9 and 22 and is usually diagnosed by the presence of the Philadelphia (Ph1) chromosome.However, the translocation may also occur without the appearance of the Ph1 chromosome. In this study the diagnostic efficiency of the molecular hybridization assay was investigated in 227 patients using a probe specific for the bcr region of the gene. Gene rearrangements were observed in 96% of Ph1-positive cases and in 92% of the patients in whom no Ph1 chromosome could be detected by karyotype analysis. By using peripheral blood the assay is easy to perform and superior in sensitivity. Thus, it is recommended that this assay should be routinely used as anadjunct to classical cytogenetics.

Clinical and cytogenetic studies of two cases of Klinefelter syndrome with hereditary retinoblastoma and rhabdomyosarcoma.

Two children with Klinefelter syndrome (KS), one associated with bilateral hereditary retinoblastoma (RB) and the other with rhabdomyosarcoma (RMS) are reported. Both were boys and chromosomally mosaic for KS. The hereditary retinoblastoma case yielded 46,XY,del(13)(q12q14.2)/47, XXY(c),del(13)(q12q14.2) in PHA-stimulated lymphocytes. The rhabdomyosarcoma case yielded 46,XY/ 47,XXY(c) in peripheral blood cells whereas tumor revealed trisomy 8, trisomy 7, and t(7;13)(q33;q32) in addition to 46,XY/47,XXyc mosaicism.

Monosomy 7 myeloproliferative disease associated with neurofibromatosis type I: a case report.

A 7-year-old girl with neurofibromatosis type I (NF1) was diagnosed to have monosomy 7 myeloproliferative disease (Mo 7-MPD). Of the benign and malignant tumors that are encountered with increased incidence in NF1, those originating from the neural crest are frequent. However, tumors that do not originate from the neural crest may also be seen and among these, myeloid leukemias are prominent. Studies on NF1 patients with Mo 7-MPD and juvenile chronic myeloid leukemia (JCML) have suggested the role of the NF1 gene in the leukemogenesis. The relationship between monosomy 7 and hematological malignancies is already known. These findings are in agreement with the multi-step development theory of cancer. In addition, our case is one of the very rare NF1 cases having father to daughter inheritance with a myeloid malignancy. We believe that cytogenetic and molecular genetic studies will contribute to further understanding of leukemogenesis.

The effects of selenium supplementation on antioxidative enzyme activities and plasma and erythrocyte selenium levels.

Plasma and erythrocyte selenium levels in rabbits supplemented with therapeutic doses of selenium were studied by Zeeman graphite furnace atomic absorption spectrometry using a new palladium-ascorbic acid chemical modifier in order to achieve a higher precision. An improved coupled test procedure was used to determine the glutathione peroxidase (GSH-Px) activities. Superoxide dismutase activities were measured employing a method for the clinical assay of the enzyme. The selenium levels and GSH-Px activities both in the plasma and erythrocytes were higher in the supplemented group when compared to the controls. The SOD activities were increased in the erythrocytes but remained unchanged in the plasma. Or the other hand, a higher copper/zinc ratio was found both in the plasma and erythrocytes of the supplemented group. These findings support the importance of the dietary selenium intake in terms of the principal role of selenium in the cellular antioxidative mechanisms and imply that measurements of plasma selenium levels may be a notable sensitive indicator of the short-term selenium status.

Serum values of CA72.4 in patients with gastrointestinal system tumors comparison with CEA and CA 19.9.

Serum CA 72.4 levels of patients with malignant gastrointestinal disorders (n = 77) were determined in parallel with the CEA and CA 19.9 levels. The values related to healthy individuals were 1.7 U/ml, with a median of 1.7 U/ml, whereas an average of 12.1 U/l (median 2 U/ml) was measured in malignancy. Among all three markers CEA showed the highest positive rate while the values for CA 19.9 and CA 72.4 were lower. Although positive rates among the healthy group were observed with CEA and CA 19.9, no false positives were found with CA 72.4. Elevated CA 72.4 levels were found in 17.6% of patients with gastric carcinoma and 56.3% with colorectal carcinoma. All markers showed significant sensitivity for the malignant state when used alone. However, the regression analysis revealed that only the combination of CA 72.4 and CEA may contribute significantly to the diagnostic potential. Our results indicate that complementation of CEA with CA 72.4 can significantly increase the sensitivity in the serodiagnosis of gastrointestinal system cancers. Combination of positive information from these two sources is likely to lead to a more accurate diagnosis and may therefore improve the efficiency of the follow-up and therapeutic response.

Osteocalcin: a valuable bone metastasis marker.

Osteocalcin (BCG) in an osteoblast product which reflects the bone formation rate. It could be a valuable bone metastasis marker. To investigate this, we measured serum osteocalcin levels by using radioimmunoassay method in 11 healthy subjects and in 79 cancer patients. The cancer patients consisted of 36 non-metastatic, 29 with only bone metastasis and 14 with extraosseous metastases. Significance was found only between bone metastatic patients and non-metastatic patients in both sexes (p. 0.05). There was no significance between non-metastatic patients and patients with other than bone metastases. This study shows that osteocalcin measurements reflect bone formation rates in bone metastasis and could be used as a bone metastasis marker in suspicious cases.