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Biomedical subjects

H J Decker

Publications and source records attributed to H J Decker.

28 records · Page 2Linked to original sources
PubMed1991

Detection of monosomy in interphase nuclei and identification of marker chromosomes using biotinylated alpha-satellite DNA probes.

Nonradioactive in situ hybridization with chromosome-specific highly repetitive DNA probes is a fast and easy method for the detection of the number of chromosome copies in nonmitotic cells. In this study, we report the use of four biotinylated probes of the human alpha-satellite family recognizing the (peri)centromeric regions of chromosomes 3, 10, 16, and 17. The reliability of the probes was tested by hybridizations to metaphase chromosomes and interphase nuclei of normal blood lymphocytes, which showed a two signal score in 85%-94% and 82%-86% of the cells, respectively. In situ hybridization experiments with nuclei and metaphase spreads derived from the LXFS-650 cell line indicated monosomy for chromosomes 10 and 16 and the presence of two derivative chromosomes 17. These results were in accordance with the cytogenetic data obtained with GTG-banding and confirmed the monoclonality of the cell line. Furthermore, with this method the origin of an unclassified marker chromosome could be identified as a derivative of chromosome 3. Our results show that fluorescence in situ hybridization can be a useful tool in cancer cytogenetics for the detection of numerical aberrations in interphase nuclei and for the classification of marker chromosomes in addition to conventional cytogenetic techniques.

Biotin↗
PubMed1990

Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease. A cytogenetic and in situ hybridization study.

We describe the cytogenetic findings in a recurrent neurofibrosarcoma in a patient with nonfamilial von Recklinghausen disease. The composite karyotype was: 40,Y,-X,+dic r(X;20)(:Xp22.2----q26::20p13----q13:), -1, +der(1)t(1;3) (p21;p24),-3,-4,-5,+der(5) t(5;?)(q31;?),-9,-9,+der(9)t(3;9)(q21 or q13;p24 or p22), -11,+der(11)t(11;?)(q22.2;?), -17,+der(17)t(17; 22;?)(q21;q13.1;?), -20, -21, -22, -22, +der(22)t(17; 22;?)(q21;q13.1;?),t(2;10)(q37;q22). The derivative chromosomes were demonstrated at the 500 band level. Chromosomes 17 and 22 were shown to be involved in an unbalanced three-way translocation: t(17;22;?)(q21;q13.1;?). This event was confirmed by in situ hybridization, using two probes mapped to chromosome 17. Hill H is a probe derived from the novel oncogene TRE and is located at 17q12-22. The second probe, derived from the granulocyte colony-stimulating factor (G-CSF), is located at 17q11-q21. The rearrangement between chromosomes 17 and 22 showed breakpoints similar or close to the gene loci for neurofibromatosis 1 (NF-1) and NF-2. Based on our observations we recommend that genetic studies on NF-1 tumors include both gene sites (NF-1 and NF-2) rather than focus on one gene locus.

Adult↗
PubMed1989

Cytogenetic studies on three pheochromocytomas derived from patients with von Hippel-Lindau syndrome.

Chromosomal analyses of three pheochromocytomas from patients with von Hippel-Lindau syndrome are reported. One pheochromocytoma revealed a normal karyotype, another tumor showed a trisomy 7 as the only chromosomal abnormality, whereas in a further sample a polyclonal chromosome constitution was detected. In addition to a normal 46,XX cell line, four distinct chromosomally abnormal cell lines could be identified. One cell line revealed partial trisomy for the long arm of chromosome 1 and additionally exhibited the phenomenon of telomeric association. Most interestingly, three further cell clones showed rearrangements of chromosome 3 including the region where the von Hippel-Lindau gene was mapped; three rearrangements resulted in a partial or total trisomy of 3p. Our findings are discussed in relation to previously reported cytogenetic and molecular results regarding von Hippel-Lindau syndrome.

Adrenal Gland Neoplasms↗
PubMed1989

inv(12)(p11.2q13) in an endometrial polyp.

A benign endometrial polyp from a 50-year-old postmenopausal woman has been cytogenetically investigated. A single clonal karyotypic anomaly, inv(12)(p11.2q13), was found in about 30% of cells analyzed after short-term culture. This finding contributes further to the hypothesis that the chromosomal segment 12q13-q14, which is also involved in chromosomal rearrangements in uterine leiomyomas, pleomorphic adenomas of the salivary glands, lipomas, and myxoid liposarcomas, contains a gene or genes that are related to cellular proliferation rather than to malignant transformation.

Chromosome Banding↗
PubMed1989

Loss of heterozygosity on 3p in a renal cell carcinoma in von Hippel-Lindau syndrome.

A renal cell carcinoma with an unbalanced t(X;3) in a patient with von Hippel-Lindau (VHL) syndrome has previously been reported. This rearrangement suggested loss of genetic material from the short arm of chromosome 3, which we are now able to confirm by restriction fragment length polymorphism analysis of tumor DNA using polymorphic probes derived from 3p. The VHL gene has recently been mapped to 3p, therefore loss of this region in this VHL-related renal cell carcinoma may have cogent significance for tumor development in this interesting cancer-predisposing syndrome.

Angiomatosis↗
PubMed1989

Translocation t(9;11)(p23;q12): a primary chromosomal change in renal oncocytoma.

We report the cytogenetic, clinical, radiological and pathological features of a renal oncocytoma, diagnosed accidentally in a 50-year-old man who originally presented with symptoms related to prostatic hyperplasia. All metaphases examined showed a structural chromosomal rearrangement t(9;11)(p23;q12) as the only change. The constitutional karyotype was established as 46XY. We believe that this karyotypic anomaly may represent a primary and possibly specific change characterizing this uncommon and generally benign type of tumor.

Adenoma↗
PubMed1988

Inversion of chromosome 5 long arm in region of cell growth gene cluster in hematologic disorders.

Inversions of the long (q) arm of chromosome #5 are reported in five cases with hematologic disorders. Inversion of 5q with breakpoints in bands 5q13 and 5q33 was found in two cases with lymphoid malignancy and in two cases of myeloid hematologic malignancy. Because an inversion of 5q with breakpoints in 5q22 and 5q33 was also found in a case with myeloproliferative syndrome, the common denominator in these five cases was band 5q33. An extraordinary cluster of genes affecting cell growth and differentiation is present on 5q and may be altered by the chromosome rearrangement of 5q in hematologic disorders.

Adult↗