bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor
Authors: Biegel Jaclyn A. , Burk Carol D. , Parmiter Annette H. , Emanuel Beverly S. 
Published: February 2007

AbstractWe previously reported the non‐random occurrence of monosomy 22 in rhabdoid or atypical teratoid tumors of the brain in three young children. We now present cytogenetic and molecular studies of an additional rhabdoid tumor with the karyotype 46.XX, ‐ 9,‐22, + i( 1q), + der(22)t(9;22)(p 13;q11)/45,XX, ‐ 9,‐10,‐22, + i(1q), + der(22)t(9;22)(p 13;q11). These studies further demonstrate the involvement of chromosome 22, and they begin to define the critical region containing a gene or genes involved in the development or progression of rhabdoid tumors of the brain.
Detection of RAS mutations in archival testicular germ cell tumors by polymerase chain reaction and oligonucleotide hybridization
Authors: Moul Judd W. , Theune Sheila M. , Chang Esther H. 
Published: February 2007

AbstractPreliminary studies of RAS mutational activation in human testicular germ cell neoplasms have yielded conflicting results. Whereas two studies of clinical material revealed a significant incidence of N‐ and KRAS mutations, two studies of a variety of germ cell lines failed to document RAS mutations. To clarify the incidence of RAS mutations in these tumors, we studied archival paraffin‐embedded, formalin‐fixed orchiectomy specimens from 25 nonseminomas (NSGCT), 18 seminomas (SEM), and one Leydig cell tumor. For 14 of the 44 neoplasms, DNA was also available from nonmalignant testis adjacent to the tumor. Six age‐matched patients had testes removed because of nonmalignant disease and were studied as controls. Polymerase chain reaction (PCR) amplified the K‐, N‐, and HRAS 12, 13, and 61 codons of these specimens, and mutations were detected with mutation‐specific oligonucleotide probe hybridization of Southern and slot blots. Four mutations were found in KRAS 12 (4/44,[9.1 %]). One seminoma [1/18(5.6%)] contained the mutation GGT(GLY) → CGT(ARG), and three NSGCT [3/25(12%)] were found to have GGT(GLY) → GAT(ASP) mutations. One of the NSGCT mutations was detected in adjacent nonmalignant tissue, but the corresponding tumor did not contain any detectable mutation. No mutations were detected at KRAS 13 or 61, in NRAS or HRAS 12, 13, or 61, or in the control normal testes. PCR, slot blots, and hybridizations were performed twice by two separate investigators for confirmation of results. PCR‐generated mutation‐specific positive controls were created for all possible RAS mutations, and these along with wild‐type DNA controls were integral to interpretation of the oligonucleotide mismatch hybridization assay. By using positive and negative controls, we have detected a relatively low incidence of RAS mutations in archival human testicular germ cell tumors.
Identification of a whole‐arm translocation by in situ hybridization with directly fluorochrome‐labeled probes in a myelodysplastic syndrome
Authors: Bajalica Svetlana , Brøindum‐Nielsen Karen , Sørensen Anne‐Grethe , Pedersen Niels Tinggaård , Heim Sverre 
Published: February 2007

AbstractA case of myelodysplasia was found to have a complex bone marrow karyotype, involving an apparent whole‐arm translocation between 17q and 18q. The application of a simplified fluorescence in situ hybridization technique, using directly fluorochrome‐labeled centromere‐specific alpha‐satellite DNA probes, demonstrated the presence of sequences from both chromosomes 17 and 18 in the centromere of the derivative chromosome. This proves that a true whole‐arm translocation had occurred. The case exemplifies how in situ hybridization analysis can be used to resolve interpretation problems in cancer cytogenetics.
Clinical impact of chromosome I aberrations in neuroblastoma: A metaphase and interphase cytogenetic study
Authors: Christiansen Holger , Schestag Joachim , Christiansen Nina M. , Grzeschik Karl‐Heinz , Lampert Fritz 
Published: February 2007

AbstractNeuroblastoma tumors are characterized by aberrations of chromosome I. Rapid detection of these chromosomal aberrations at diagnosis could give important clues to outcome and therapy. We attempted to detect numerical and structural aberrations of chromosome I not only by classical metaphase cytogenetics but also by interphase cytogenetics in order to overcome difficulties of karyotyping due to diminished metaphase quality and quantity in primary neuroblastoma samples. Karyotypic changes of chromosome I in 53 primary neuroblastomas were evaluated. In addition, we successfully performed interphase cytogenetics using single and double in situ hybridization procedures with chromosome I ‐specific repetitive DNA probes on nuclei preparations obtained from 46 and 20 tumors, respectively. Polysomies of structurally normal chromosomes I were predominantly seen in tumors with good prognosis, whereas deletions of 1p material were nearly exclusively confined to progressive tumors. Numerical and structural chromosome I aberrations as studied by metaphase and interphase cytogenetics are thus valuable prognostic markers in neuroblastoma.
Isochromosome 1q in acute monocytic leukemia: A new nonrandom association
Authors: Hawkins Jacqueline M. , Wood Marion , Wright Faith , Seeker‐Walker Lorna M. 
Published: February 2007

AbstractWe report a case of de novo acute monocytic leukemia in a 25‐year‐old man in whom the sole clonal cytogenetic abnormality was an additional isochromosome Iq. Cytogenetic polymorphisms indicate that, in addition to the formation of the isochromosome, a duplication of the remaining normal chromosome I had taken place. Other reported cases suggest an association between acute monocytic leukemia and i(lq).
Cytogenetic studies on 19 papillary thyroid carcinomas
Authors: Antonini Patrick , Venuat Anne‐Marie , Caillou Bernard , Berger Roland , Schlumberger Martin , Bernheim Alain , Parmentier Claude 
Published: February 2007

AbstractShort‐term cultures from 19 papillary thyroid adenocarcinomas revealed clonal numerical and/or structural chromosomal changes in 13 tumors, nonclonal abnormalities in one tumor, and only normal karyotypes in five tumors. Clonal abnormalities of chromosome 10 were present in three tumors, two of which had the translocation t(7; 10)(q35;q21). Numerical abnormalities of chromosome 17 were detected in two tumors.
Variant translocations in two Burkitt's lymphoma cell lines are located in the MLV14 locus
Authors: Galiego Marta I. , Lazo Pedro A. 
Published: February 2007

AbstractThe human MLV14 locus, located 20 kilobases 3′ of MYC, is rearranged in two Burkitt's lymphoma cell lines with either a t(2;8)(p 12;q24) or t(8;22)(q24;q 11). Alterations of MLV14 may have prognostic significance in some types of B‐cell malignancies.
Cytogenetic studies in subgroups of rhabdomyosarcoma
Authors: Whang‐Peng J. , Knutsen T. , Theil K. , Horowitz M. E. , Triche T. 
Published: February 2007

AbstractRhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood and accounts for 10% of all solid tumors in children. There are three different histologic forms of this tumor: embryonal (RMS‐E), alveolar (RMS‐A), and primitive (RMS‐P). Among these, the embryonal form has responded well to chemotherapy. Identification of the correct subtype is important for both the management and treatment of this malignancy. However, the histopathologic classification of RMS is sometimes difficult and distinguishing between the embryonic and primitive forms can present a diagnostic dilemma. Chromosomal abnormalities have been observed in all subtypes. We present the cytogenetic findings in six cases of RMS or related sarcoma. All four cases with RMS‐A had both numerical and structural abnormalities in the tumor and involved bone marrow specimens. Three patients had a common marker, t(2;13)(q37;q14), and one patient had a variant marker involving 13q14, t(1;13) (p36;q14), and double minutes (dmin). The single embryonal RMS patient had modal chromosome numbers in the hypertriploid range and extensive structural abnormalities; the t(2; 13) was not present, but translocation of 13q to both I q and 2p was observed, der(l)t(l;l3)(q21;q14) and der(2)t(2;13)(p25;q14). The patient with primitive type RMS had a hypodipl‐oid line with several markers, including a complex translocation involving chromosomes 5 and 13 with a breakpoint at 13q14, and t( 11;22)(q24;q 12), a chromosome marker heretofore found only in Ewing's sarcoma and related tumors. This patient had atypical RMS with mixed neural and myogenic elements. The significance of these chromosomal markers and their importance in the characterization of childhood tumors are discussed, along with a review of the literature. Published 1992 by Wiley‐Liss, Inc.
Characterization of a complex chromosomal rearrangement maps the locus for In vitro complementation of xeroderma pigmentosum group D to human chromosome band 19q 13
Authors: Flejter Wendy L. , McDaniel Lisa D. , Askari Minoo , Friedberg Errol C. , Schultz Roger A. 
Published: February 2007

AbstractMicrocell‐mediated chromosome transfer (MMCT) is a powerful genetic technique that permits the transfer of a single chromosome from one mammalian cell to another. The utility of MMCT for gene mapping strategies is critically dependent on the careful characterization of the chromosomes being transferred. We have recently reported the identification of a single rearranged human chromosome, designated Tneo, which corrects the UV sensitivity and excision repair defect of cells of xeroderma pigmentosum genetic complementation group D (XP‐D) in culture (Flejter WL et al., Proc Natl Acad Sci USA 89:261–265, 1992). Additionally, those studies demonstrated a role for the excision repair cross‐complementing 2 (ERCC2) gene in the observed phenotypic correction. We now report the results of detailed conventional and molecular cytogenetic characterization of the complementing Tneo chromosome. This analysis revealed a complex rearrangement involving material from human chromosomes 16, 17, and 19. Characterization of deletions of Tneo which retained or lost XP‐D complementing ability mapped the gene responsible for phenotypic correction to a small region of the terminal q‐arm of this chromosome. This region includes the previously described human DNA repair gene cluster located in the region 19q13.2‐q13.3, a result consistent with the notion that the in vitro correction of XP‐D cells by the Tneo chromosome is rendered by die ERCC2 locus. The data illustrate the potential value of detailed cytogenetic characterization of a human chromosome present in a somatic cell hybrid, even when that material involves complex rearrangements.
Two diverged human homeobox genes involved in the differentiation of human hematopoietic progenitors map to chromosome I, bands q41–42.I
Authors: Najfeld Vesna , Menninger Joan , Ballard Stephen Gwyn , Deguchi Yasuhiro , Ward David C. , Kehrl John Howard 
Published: February 2007

AbstractProteins encoded by homeobox containing genes are sequence‐specific DNA binding proteins implicated in the control of gene expression in both developing and adult tissues. Two recently characterized human homeobox genes, HB9 and HB24, are highly expressed in CD34‐positive marrow cells but not in CD34‐depleted marrow cells, Their expression is readily down‐regulated during the differentiation of hematopoietic progenitors to specific cell lineages. In this study, genomic DNA fragments isolated with HB9 (3 kb) and HB24 (6 kb) cDNAs were used to map their chromosomal location by fluorescence in situ hybridization. Both HB9 and HB24 DNA probes gave specific hybridization signals on chromosome 1. The hybridization loci were identified by combining fluorescence images of the probe signals with fluorescence banding patterns generated by cohybridization in situ with an Alu probe (R‐like banding) and by DAPI staining (G‐like). The results demonstrate that the loci of the HB24 and HB9 genes are within bands 1q41–q42.1. A cohybridization experiment utilizing both probes with two‐color fluorescence imaging could not resolve separate loci for the two genes. © 1992 Wiley‐Liss, Inc.
Cytogenetic and loss of heterozygosity studies in ependymomas, pilocytic astrocytomas, and oligodendrogliomas
Authors: Ransom David T. , Ritland Steve R. , Kimmel David W. , Moertel Cheryl A. , Dahl Richard J. , Scheithauer Bernd W. , Kelly Patrick J. , Jenkins Robert B. 
Published: February 2007

AbstractCytogenetic and/or loss of heterozygosity studies were performed on 13 ependymomas, 11 pilocytic astrocytomas, and 18 oligodendrogliomas. Loss of chromosome 22 was the most frequent genetic abnormality among the ependymomas. We found no consistent genetic abnormality in pilocytic astrocytomas. The most common genetic abnormality in oligodendrogliomas was loss of a portion of chromosome 19. Each informative oligodendroglioma had loss of alleles mapped to the long arm (q) of chromosome 19. One oligodendroglioma had an apparent homozygous deletion of the D19S8 locus. Our results, when combined with those in the literature, indicate that chromosomes 9, 11, and 22 may harbor genes important for the pathogenesis of ependymomas and that 19q probably harbors a gene important for the pathogenesis of oligodendrogliomas. © 1992 Wiley‐Liss, Inc.
Clonal cytogenetic abnormalities and telomeric associations in a fibroxanthoma of the stomach
Authors: Seruca Raquel , Carneiro Fátima , Soares Paula , Fonseca Elsa , Castedo Sérgio 
Published: February 2007

AbstractA cytogenetic study of a fibroxanthoma (fibrous histiocytoma) of the stomach revealed a clonal structural abnormality involving chromosome 12 and frequent telomeric associations between the short arm of chromosome 12 and different chromosomes. A marker chromosome possibly derived from chromosome 11 was also present. This is the second reported case of gastric fibroxanthoma and the first studied cytogenetically. © 1992 Wiley‐Liss, Inc.
Identification of a tumor marker chromosome by flow sorting, DNA amplification in vitro, and in situ hybridization of the amplified product
Authors: Boschman Gert A. , Buys Charles H. C. M. , Van Der Veen Anneke Y. , Rens Wim , Osinga Jan , Slater Rosalyn M. , Aten Jacob A. 
Published: February 2007

AbstractA method combining flow sorting and molecular cytogenetic techniques for the identification of unknown marker chromosomes is described. In this study, the bladder tumor cell line J82 was used, which was known to carry a marker chromosome of the size of chromosome 7 in every cell. From the cytogenetic analysis of Q‐banded metaphase cells, it was shown to be composed of ∼40% presumably the greater part of chromosome 20 and for the rest microscopically unidentifiable material. This marker chromosome was found using flow cytometric analysis to form an independent peak and hence was suitable for isolation using dual‐parameter sorting after staining with Hoechst 33258 and chromomycin A3. Subsequently, the marker was isolated by dual‐parameter sorting. DNA amplification of 300 isolated chromosomes by polymerase chain reaction (PCR) using the Alu‐primer Bk33 and the LINES‐primer LH5 was carried out. After purification of the amplified product, a yield of 5 μm of DNA was obtained. The DNA was labelled using Bio‐11‐dUTP and applied to human lymphocyte metaphase cells in a suppressive in situ hybridization procedure. Fluorescence was visible over chromosome 20 and over the distal one‐half of 6p. Together the fluorescent regions accounted for only ∼60% of the marker length, indicating a possible duplication of chromosome 20 material. This was confirmed by applying bicolor in situ hybridization using chromosome 6‐ and 20‐specific DNA libraries to metaphase cells of the J82 cells. © 1993 Wiley‐Liss, Inc.
Cytogenetic demonstration of gene amplification in a primary intracranial germ cell tumor
Authors: Albrecht Steffen , Armstrong Dawna L. , Mahoney Donald H. , Cheek William R. , Cooley Linda D. 
Published: February 2007

AbstractWe report the cytogenetic analysis of a primary pineal germinoma. The modal chromosome number was 81. Multiple numerical and structural chromosome abnormalities were noted along with a large homogeneously staining region (HSR). No isochromosome 12p was identified. © 1993 Wiley‐Liss, Inc.
Comprehensive screening of the human KRAS2 gene for sequence variants
Authors: Abrams Ezra S. , Murdaugh Susan E. , Lerman Leonard S. 
Published: February 2007

AbstractTo search for mutations in the human KRAS2 oncogene, we have analyzed polymerase chain reaction (PCR) fragments by denaturing gradient gel electrophoresis. We used six different PCR fragments to screen the five coding exons of this gene as well as the splice sites. GC clamps were added to each fragment by means of heteroduplex extension. We infer, from a theoretical analysis in which we employed the computer programs MELT and SQHTX, that virtually any mutation affecting one or a few base pairs in the coding exons or splice sites will be detectable. Thus the system that we describe should allow comprehensive detection of mutations throughout the coding exons and splice sites of the KRAS2 gene. As an example, we show that missense mutations at codons 12, 13, and 61 can be detected; mutant KRAS2 genes isolated from human tumors have been found to contain mutations only at these codons. We also report the discovery of three new polymorphic loci in the KRAS2 gene. We show that PCR reactions containing two or three fragments can be screened in a single lane of a denaturing gradient gel; this dramatically increases the number of base pairs that can be screened per gel. © 1993 Wiley‐Liss, Inc.
Murine radiation myeloid leukaemogenesis: Relationship between interstitial telomere‐like sequences and chromosome 2 fragile sites
Authors: Bouffler Simon , Silver Andy , Papworth David , Coates Julia , Cox Roger 
Published: February 2007

AbstractWhile the specific nature of chromosomal fragile sites and their relationship to human leukaemogenesis remain obscure, there is evidence that chromosomal fragility may, in some circumstances, be associated with telomere‐like repeat sequences and that chromosome 2 fragility in the mouse is involved in the initiation of myeloid leukaemia by ionising radiation. Here we describe the molecular cloning and characterisation of two murine telomere‐like sequences, one having an inverted repeat structure and the other a simple tandem repeat organisation. The inverted telomere repeat clone generates an in situ chromosome 2 hybridisation pattern very similar to the distribution of the radiation‐sensitive fragile sites previously found to be associated with leukaemogenic initiation. Furthermore, statistical comparison of the distributions of radiation induced breakpoints and sites of inverted telomere repeat hybridization indicates concordance at all chromosome 2 sites excluding the terminal regions. These data are discussed with respect to mechanisms of radiation‐induced, site‐specific chromosome 2 rearrangement and their implications for leukaemogenic initiation. © 1993 Wiley‐Liss, Inc.
Chromosome painting in acute monocytic leukemia
Authors: Cherif Dorra , Romana Serge , Der‐Sarkissian Hera , Jones Carol , Berger Roland 
Published: February 2007

AbstractAn Alu polymerase chain reaction (PCR) probe specific for chromosome II prepared from the somatic cell hybrid JI was used to analyze karyotypes of eight patients with acute monocytic leukemia (AML‐M5). Chromosome painting confirmed the t(9;II) in one patient and a der(I)t(I;6)t(6;II) in another and allowed the identification of a complex rearrangement involving chromosomes 9, 11, and 17, previously classified as del(II)(q23), in a third patient. An analysis of five patients with AML‐M5 and a normal karyotype did not detect abnormalities of chromosome II. The usefulness of chromosome painting combined with in situ hybridization with probes previously located on particular chromosomes is emphasized. © 1993 Wiley‐Liss, Inc.
Rearrangements of the RARA and PML genes in a cytogenetic variant of acute promyelocytic leukemia
Authors: Baranger L. , Gardembas M. , Hillion J. , Foussard C. , Ifrah N. , Boasson M. , Berger R. 
Published: February 2007

AbstractAcute promyelocytic leukemia (APL) is usually associated with the translocation t(15;17)(q22;q12‐21), which disrupts the retinoic acid receptor alpha (RARA) gene on chromosome 17 and the PML gene on chromosome 15. We report a patient with typical APL without the common t(15;17). Cytogenetic studies demonstrated a normal appearance of chromosomes 15, while a small marker seemed to be an i(17q—). Molecular analysis showed RARA and PML rearrangements, suggesting that the chromosome abnormality corresponded to a variant translocation. © 1993 Wiley‐Liss, Inc.
Regulation of transcription by the retinoblastoma protein
Authors: Horowitz Jonathan M. 
Published: February 2007

AbstractThe product of the retinoblastoma gene (RB1) is believed to function as a negative regulator of cell growth. Recent experimental results suggest that RB1 may exert its growth‐suppressing activity by regulating the transcription of a variety of growth‐related genes, including FOS, MYC, and TGFB1. A series of biochemical and molecular analyses suggest that RB1 indirectly affects gene expression via cell‐cycle‐regulated interactions with transcription factors, such as E2F and SP1. Determination of the mechanisms regulating such protein‐protein interactions and the identification of additional targets of RB1 function will provide vital insights into the role of this tumor‐suppressor gene in mammalian cell proliferation. © 1993 Wiley‐Liss, Inc.
Breakpoint clusters of the PML gene in acute promyelocytic leukemia: Primary structure of the reciprocal products of the PML‐RARA gene in a patient with t(15;17)
Authors: Dong Shuo , Geng Jie‐Ping , Tong Jia‐Hua , Wu Yu , Cai Jin‐Ren , Sun Guan‐Lin , Chen Shu‐Rong , Wang Zhen‐Yi , Larsen Christian‐Jacques , Berger Roland , Chen Sai‐Juan , Chen Zhu 
Published: February 2007

AbstractDNA studies of the translocation t(15;17) in acute promyelocytic leukemia (APL) have shown that the retinoic acid receptor alpha (RARA) gene on chromosome 17 is juxtaposed to the promyelocytic leukemia (PML) gene on chromosome 15. The PML breakpoints have been mapped to 3 clusters: bcr1, bcr2, and bcr3. We have examined the PML breakpoint distribution in a series of 33 Chinese patients with APL Twenty‐two patients fell within bcr1, 2 within bcr2, and 9 within bcr3. The primary structure of the reciprocal chromosome translocation joints of one patient and that of their normal counterparts have been determined and compared to those of 2 previously reported cases. These studies revealed possible topoisomerase II cleavage sites close to the breakpoints and suggested implications of DNA attachment sites to nuclear matrix. We propose that these features are relevant to the process of illegitimate recombination generating the translocation. © 1993 Wiley‐Liss, Inc.