bluuebunny/crossref_metadata_2025_split huggingface dataset:
Implication of prior treatment with drug combinations including inhibitors of topoisomerase II in therapy‐related monocytic leukemia with a 9;11 translocation
Authors: Albain Kathy S. , Le Beau Michelle M. , Ullirsch Rudolf , Schumacher Harold 
Published: February 2007

AbstractThe present case, together with other reports reviewed herein, defines a new subtype of therapy‐related acute myeloid leukemia (t‐AML). This variant of t‐AML is characterized by a short interval from initial drug therapy to bone marrow dysfunction and monocytic morphology without trilineage dysplasia. Unlike classic t‐AML, which frequently has abnormalities of chromosomes 5 and/or 7, this new subtype is characterized by rearrangements involving band q23 of chromosome 11, most commonly a 9;11 translocation. The majority of patients with this subtype of t‐AML had prior cytotoxic therapy with topoisomerase II‐reactive drugs including anthracyclines, epipodophyllotoxins, or actinomycin D, combined with either an alkylating agent or cisplatin. This association of prior therapy which includes topoisomerase II‐reactive agents and a rapidly appearing t‐AML involving the monocytic line and chromosome 11 requires additional study.
Cytogenetics and DNA amplification in colorectal cancers
Authors: Brüderlein Silke , Van Der Bosch Kai , Schlag Peter , Schwab Manfred 
Published: February 2007

AbstractIn vitro cultivated cells of 28 colorectal cancers were analyzed for chromosomal abnormalities that might signal amplification of DNA, either as double minutes (DMs) or homogeneously staining chromosomal regions (HSRs). Cells derived from 18 tumors showed DMs in 10 to 100% of all metaphases examined. Surveys that employed a panel of available oncogene probes foiled to detect amplification of a known cellular oncogene with the exception of three cases where the ERBB2 gene was amplified. In one of these three cases neither DMs nor HSRs were detectable. Our studies show that from 28 lines established in culture, 19 (68%) show amplification of DNA, and indicate that DNA amplification is a frequent genetic alteration in colorectal cancers in addition to other genetic changes. Amplification is correlated with high Dukes stage, but not with histological grade. The identity of the amplified DNA remains to be established for most cases.
Cloning and characterization of the T(15;17) translocation breakpoint region in acute promyelocytic leukemia
Authors: Lemons Richard S. , Eilender David , Waldmann Richard A. , Rebentisch Matt , Frej Ann‐Kristin , Ledbetter David H. , Willman Cheryl , McConnell Thomas , O'Connell Peter 
Published: February 2007

AbstractA reciprocal chromosomal translocation, t(15;17)(q22;q11.2‐12), is characteristic of acute promyelocytic leukemia (APL) of French‐American‐British (FAB) subtype M3, and is not associated with any other human malignancy. The non‐random pattern of the APL translocations suggests that specific genes on chromosomes 15 and 17 are somehow altered or deregulated as a consequence of the rearrangement. Translocation breakpoints in APL patients provide physical landmarks that suggest an approach to isolating the APL gene(s). Genetic and physical maps constructed for the APL breakpoint region on chromosome 17 have indicated that two fully‐linked DNA markers, defining loci for THRA1 and D17S80, map to opposite sides of an APL breakpoint yet reside on a common 350‐kb Cla1 fragment. Cosmid‐walking experiments to clone this APL breakpoint have revealed a 38‐kilobase deletion on chromosome 17. Studies in additional APL patients have shown that the breakpoint region on chromosome 17 spans at least 80 kilobases.
Karyotypic instability and viral integration in polyoma virus‐induced mouse salivary gland tumors
Authors: Sandros Jens , Stenman Göran 
Published: February 2007

AbstractStable integration of polyoma viral DNA into the host‐cell genome is a prerequisite for continuous expression of the transformed phenotype. In this study we have mapped the chromosomal location of integrated viral DNA sequences in a polyoma‐induced mouse salivary gland adenocarcinoma. By in situ hybridization, a major integration site was assigned to chromosome 14, band B. The combined results from in situ hybridizations to metaphase chromosomes, primary tumors, and cultured tumor cells indicate the presence of both integrated and free polyoma viral DNA in the tumors. Cytogenetically, the tumors were characterized by a pronounced karyotypic instability. No abnormal cells with the same karyotype were observed in any of the tumors. Nevertheless, it was possible to recognize a preferential pattern of chromosome variation with certain common recurrent and sporadic deviations. Clonal gains and/or losses of single chromosomes were seen in all tumors. It is concluded from these results that karyotypic instability may play an important role in the genesis and progression of polyoma virus‐induced salivary gland tumors.
Cytogenetics of non‐small cell lung cancer: Analysis of consistent non‐random abnormalities
Authors: Lukeis Robyn , Irving Louis , Garson Margaret , Hasthorpe Suzanne 
Published: February 2007

AbstractCytogenetic analysis of ten primary non‐small cell lung carcinomas (NSCLC), including five adenocarcinomas (ADC), three squamous cell (SQC), and two large cell (LCC) carcinomas has been carried out in an attempt to determine karyotype changes involved in the early stage of disease. The tumors were all aneuploid and exhibited complex karyotypes with multiple structural and numerical abnormalities. Clonal structural rearrangements were identified and in particular loss of material from the short arm of chromosome 9 had a 90% incidence. This loss was due to non‐reciprocal translocation, deletion, or chromosome loss. Breakpoints were in the region 9q13 to p22. Other chromosome regions that were non‐randomly involved are as follows: 1 cen to p13, 3p, 5q11 to q13, 6p, 6q15 to q27, 7p, 8p, 11q12 to q23, 13p, 14p, 15p, 17p, and 19p. While a primary cytogenetic change in NSCLC has not been identified conclusively, our findings implicate loss of material from 9p as a potentially important event.
A gene that encodes for a leukemia‐associated phosphoprotein (p18) maps to chromosome bands 1p35–36.1
Authors: Ferrari Anna C. , Seuanez Hector N. , Hanash Samir M. , Atweh George F. 
Published: February 2007

AbstractThe cytosolic protein p18 which is expressed in increased amounts in acute leukemia cells is variably phosphorylated as a function of growth and differentiation. Proteins with identical amino acid sequence were independently found to be highly expressed in normal brain tissue and neuroendocrine tumor cells. Here we describe the mapping of the recently cloned p18 gene to chromosome 1, band p35–36.1 by Southern blot analysis of human–rodent somatic cell hybrid DNA and by chromosome in situ hybridization using a p18 genomic probe. This region of the distal short arm of chromosome 1 is a frequent site of deletions or loss of heterozygosity in tumors derived from neural crest cells, particularly neuroblastomas and melanomas. The high levels of expression of p18 in brain and neuroendocrine tumor cells, its possible role in growth regulation, and its chromosomal location in a region frequently deleted in neuroectodermal tumors suggest that this gene may be involved in common genetic events occurring in these tumors.
Localization of DNA adducts induced by N‐acetoxy‐N‐2‐acetylaminofluorene in chinese hamster ovary cells using electron microscopy and colloidal gold
Authors: Olivero Ofelia A. , Semino Cristina , Poirier Miriam C. 
Published: February 2007

AbstractDNA adduct induction by N‐acetoxy‐N‐2‐acetylaminofluorene (N‐Ac‐AAF) has been investigated in Chinese hamster ovary (CHO) cells using immunoelectron microscopy. The major RNA and DNA adducts, N‐(guanosin‐8‐yl)‐2‐aminofluorene (G‐C8‐AF) and N‐(deoxyguanosin‐8‐yl)‐2‐aminofluorene (dG‐C8‐AF), were localized with a rabbit anti‐G‐C8‐AF antiserum and colloidal gold cytochemistry. Appropriate controls, including incubation of untreated cells with normal rabbit serum and immunogen‐absorbed serum, demonstrated that colloidal gold deposits were indicative of the presence of adducts. The localization of gold particles in close association with nuclear chromatin revealed high concentrations of adducts in DNA and RNA of nuclei. Morphometric evaluation of adduct formation in organelles of cells from different carcinogen exposures showed that 85–88% of total adducts were concentrated in nuclei. DNA adducts remaining in nuclei after RNAse treatment appeared to concentrate in heterochromatic areas, and these areas contained 59% of bound gold particles by morphometry. A total of 137–178 particles were found in nuclei of treated cells vs. 15–26 in the surrounding cytoplasm. Treated cells incubated with normal rabbit serum or specific adduct‐absorbed serum showed 19–34 particles for all cellular compartments.
Clinical, morphologic, and cytogenetic characteristics of patients with lymphoid malignancies characterized by both t(14;18)(q32;q21) and t(8;14)(q24;q32) or t(8;22)(q24;q11)
Authors: Thangavelu Maya , Olopade Olufunmilayo , Beckman Enrique , Vardiman James W. , Larson Richard A. , McKeithan Timothy W. , Le Beau Michelle M. , Rowley Janet D. 
Published: February 2007

AbstractSix patients with an aggressive leukemia/lymphoma disorder had a t(14;18) as well as either a t(8;14) (three patients) or a t(8;22) (three patients). Leukemia cells from all three patients with the t(8;22) had a mature B cell phenotype (Smlg+ and TdT−), whereas two of three patients with the t(8;14) had a pre‐B phenotype and were Smlg−. None of the patients with the t(8;22) had a prior history of follicular lymphoma, whereas two of the three patients with the t(8;14) had had a follicular lymphoma. The clinical, cytogenetic, and morphologic characteristics of these six patients along with eight previously reported cases with both the t(14;18), and the t(8;14), the t(8;22) or the t(2;8) are discussed.
Chromosomal localization of the human myeloperoxidase gene by in situ hybridization using oligonucleotide probes
Authors: Zaki Sharif R. , Austin Garth E. , Chan Wing C. , Conaty Ann L. , Trusler Suzanne , Trappier Sam , Lindsey Rusha B. , Swan David C. 
Published: February 2007

AbstractOligonucleotide probes have been used to map the myeloperoxidase (MPO) gene locus to chromosome bands 17q21–22. This is in agreement with results reported using conventional cDNA probes. No evidence for the existence of a second MPO gene locus was obtained. Six synthetic 72‐base oligonucleotides, corresponding to different exon regions of the MPO gene, were tritium‐labeled and used as in situ hybridization probes. Synthetic oligonucleotide probes offer a useful alternative to conventional DNA probes for gene mapping.
A chromosome jump crosses a translocation breakpoint in the von recklinghausen neurofibromatosis region
Authors: Wallace Margaret R. , Andersen Lone B. , Fountain Jane W. , Odeh Hana M. , Viskochil David , Marchuk Douglas A. , O'Connell Peter , White Ray , Collins Francis S. 
Published: February 2007

AbstractThe von Recklinghausen neurofibromatosis (NF1) gene has been previously localized to the region 17q11.2 by genetic analysis. Consistent with this, two NF1 patients have been described with autosomal translocations with breakpoints in 17q11.2, and these represent presumed markers for the location of the NF1 gene. Recent work has defined the two breakpoints on a physical map, and they lie less than 100 kb apart. To characterize further the distance between these breakpoints and clone additional DNA, a chromosome jump was made from a DNA fragment that maps between the breakpoints. The end of the jump crosses one of the NF1 translocation breakpoints and detects that breakpoint on Southern analysis, placing the probe less than 15 kb telomeric to this breakpoint. Pulsed field analysis with the jump clone allows revision of the previous NF1 region map and indicates that the two breakpoints lie no more than 60 kb apart. This jump clone will be useful for further mapping, breakpoint cloning, analysis of patient DNA, and the search for transcripts in the NF1 region.
Malignant fibrous histiocytomas with a 19p+ marker chromosome have increased relapse rate
Authors: Rydholm Anders , Mandahl Nils , Heim Sverre , Kreicbergs Andris , Willén Helena , Mitelman Felix 
Published: February 2007

AbstractMalignant fibrous histiocytomas (MFH) often have complex karyotypic abnormalities. Recently, we described a 19p+ marker chromosome in 9 of 22 MFH. Other recurrent karyotypic features have been telomeric associations, ring chromosomes, and structural rearrangements of chromosomal bands 1q11, 3p12, and 11p11. After a median follow‐up time of 18 months, distant metastases and/or local recurrence have occurred in 8 of the 9 patients with 19p+ markers but in only 4 of the 13 patients without. The only other cytogenetic parameter that seemed to affect relapse tendency was the presence of ring markers: relapse has occurred in 2 of 8 patients with unidentifiable supernumerary ring marker chromosomes compared to 10 of 14 patients without. No differences in relapse frequency were apparent for tumors belonging to the other cytogenetic subgroups. It thus appears that 19p+ marker chromosomes in MFH signal an increased relapse risk whereas the finding of ring markers indicates a reduced relapse risk.
Parallel karyotypic evolution and tumor progression in uterine leiomyoma
Authors: Pandis Nikos , Heim Sverre , Bardi Georgia , Flodérus Ulla‐Maria , Willén Helena , Mandahl Nils , Mitelman Felix 
Published: February 2007

AbstractCytogenetic evidence of clonal evolution was detected in five uterine leiomyomas. In two tumors, two clones were found, the third tumor had four, the fourth had nine, and the fifth had 12 clones. The first tumor had trisomy 12 as the primary anomaly and a sideline that also contained a del(7)(q21q31). Both clones of the second tumor had three structural changes in common but differed by the presence in the more advanced clone of an inv(7)(q31q34). Two cytogenetically unrelated pairs of clones were seen in the third tumor: One clone had a stemline of 46 and an r(1); a sideline had developed through duplication of this clone. The other pair had a del(7)(q21q31) in common. The last two tumors both had t(12;14)(q14–15;q23–24) as the primary abnormality. They also had a high frequency of telomeric associations that involved certain chromosome arms only. One of the secondary changes in the fourth tumor was a del(7)(q21q31); the principal secondary change in the fifth case was a ring chromosome 1 of variable size in the different clones. The analysis of these five uterine leiomyomas and the collation of the results with previously obtained data lead us to conclude that del(7)(q21q31) is secondary to t(12;14) and +12 in this tumor type, and that ring formation involving chromosome 1 material, often with duplication of segments, is a common phenomenon during clonal evolution. The fact that the tumors were classified as cellular and had an increased mitotic rate indicates a parallel development between histologically detectable tumor progression and cytogenetically recognizable clonal evolution in uterine leiomyomas.
CD3G is within 200 kb of the leukemic t(4;II) translocation breakpoint
Authors: Das Soma , Cotter Finbarr E. , Gibbons Barbara , Dhut Susheela , Young Bryan D. 
Published: February 2007

AbstractThe t(4; II )(q21;q23) has been associated with acute lymphocytic leukemia (ALL) especially in infants. The t(4; II) breakpoint on chromosome II is cytogenetically indistinguishable from breakpoints for other leukemia‐associated translations affecting 11q23. The molecular basis of the t(4;lI) is unknown although a number of genes have been mapped to IIq23. The CD3D, G, and E genes have been positioned proximal to the IIq23 breakpoint of the 4; II translocation while the THY I and ETSI genes have been mapped distal to this breakpoint. We report evidence that CD3G is within 200 kb of the 4; II breakpoint as observed by pulsed field gel analysis. A rearrangement of the CD3G gene has been observed in a cell line derived from a patient with the t(4;II) translocation and in a hybrid cell line containing the derivative IIq chromosome derived from this cell line, using the restriction enzymes Sacll and Clal. Similar rearrangements using Sacll were observed in 2 further patients with ALL and the t(4; II) translocation. No rearrangements in the same DNA were observed using ETSI, THY I, and Dl IS29 and a range of rare cutter restriction enzymes. CD3G thus provides a tool for the cloning and analysis of the 4; II trasnslocation, and poses a question of its possible involvement at long range with this translocation.
Immunoglobulin gene rearrangements in acute lymphoblastic leukemia with the 9;II translocation
Authors: Lorenzana Adonis N. , Rubin Charles M. , Le Beau Michelle M. , Nachman James , Connolly Patrick , Subramanian Uma , Johnson F. Leonard , McKeithan Timothy W. 
Published: February 2007

AbstractThe recurring chromosomal 9;II translocation [t(9; II) (p22;q23)] typically is associated with acute monoblastic leukemia, but a number of patients with acute lymphoblastic leukemia also have been reported to have the t(9; II). To investigate the cell lineage in the latter cases, we analyzed DNA from the leukemic cells of an 8‐year‐old girl with acute lymphoblastic leukemia and a t(9;I I) for rearrangements of the immunoglobulin and T‐cell receptor genes. Rearrangements of both immunoglobulin heavy‐chain loci and of one lambda light‐chain gene were detected, as well as deletions affecting both alleles of the kappa light‐chain genes; T‐cell receptor genes were in germline configuration. These results provide further evidence that the 9; I I translocation is not limited to myeloid lineage leukemia and may be observed in acute lymphoblastic leukemia.
Cytogenetic analysis of 434 consecutively ascertained specimens of non‐Hodgkin's lymphoma: Correlations between recurrent aberrations, histology, and exposure to cytotoxic treatment
Authors: Offit Kenneth , Jhanwar Suresh C. , Ladanyi Marc , Filippa Daniel A. , Chaganti R. S. K. 
Published: February 2007

AbstractCytogenetic abnormalities in non‐Hodgkin's Lymphoma (NHL) provide a model system for the analysis of the role of multiple genomic aberrations in human malignancy. In order to define correlations with histology, tumor evolution, and the effects of genotoxic exposure, Cytogenetic analysis was performed on 434 specimens of NHL derived from 423 patients consecutively ascertained over a 5‐year period (1984–1989). Six recurring translocations (RT) were observed: t(14;18)(q32;q21), t(8;14)(q24;q32), t(11;14)(q13;q32), t(3;22)(q27;11), t(2;5)(p23;q35), and t(1;6)(q21;q25). No translocation was specific to a single histologic subtype. Other structural chromosome abnormalities were analyzed according to break site; groups of related breaks were considered together for statistical analysis. Recurring other structural and numerical aberrations (ROA) encountered in >10% of specimens included rearrangements with breaks at bands 1p32–36, 1q21–23, 6q21–25, and trisomies of chromosomes 7 and 12. ROA with one of these breaks or numerical abnormalities were the sole abnormalities in at least two cases. Correlations were observed among ROA and between ROA and histologic subtypes. Trisomy 7, breaks at 1q21–23, 1p32‐36, 6q21–25, and 7q32 were associated with t(14;18); trisomy 18 was associated with trisomy 3; and structural abnormalities of chromosome 17 were associated with breaks at 1p32‐36 and 6q21–25. Trisomy 7 and trisomy 12 were more frequent in t( 14;18)‐bearing intermediate to high grade tumors compared to low grade tumors. Trisomy 12 and breaks at band 1p22 were associated with large cell diffuse lymphomas. Incidence rates of reciprocal translocations, ROA, and measures of karyotypic complexity, including number of breakpoints and marker chromosomes were compared in pretreatment and posttreatment samples. Karyotypic complexity was greater in the posttreatment samples, reflecting an increased frequency of nonrecurring and low incidence aberrations. These results better define the association of genomic aberrations and tumori‐genesis, histologic transformation, and tumor progression.
Chromosome abnormalities in breast fibroadenomas
Authors: Calabrese Giuseppe , Virgilio Clemente Di , Cianchetti Ettore , Franchi Paolo Guanciali , Stuppia Liborio , Parruti Giustino , Bianchi Patrizia Grace , Palka Giandomenico 
Published: February 2007

AbstractA cytogenetic study on 25 breast fibroadenomas from 17 women is reported. Seven tumors in five patients showed clonal structural chromosome changes. In three patients the breaks involved chromosome 12, occurring in two tumors in band 12p 12 and in band 12q 15 in all three tumors of one patient. The finding of an identical aberration, t(11;12)(q21;q15), in three adenomas from the same patient strongly suggests a clonal origin of multiple fibroadenomas of the breast.
Deletion mapping of chromosomes 8, 10, and 16 in human prostatic carcinoma
Authors: Bergerheim Ulf S. R. , Kunimi Kazuto , Collins V. Peter , Ekman Peter 
Published: February 2007

AbstractIn an allelotyping study of prostatic carcinoma, we found the highest frequency of allelic deletions on chromosomes 8, 10, 16, and 18. In all cases with allelic deletions, at least one of the chromosomes 8, 10, and 16 were involved. A detailed deletion mapping of these chromosomes in 18 cases was carried out with probes that detect restriction fragment length polymorphisms (RFLP) on chromosomes 8 (6 probes), 10(11 probes), and 16 (9 probes). The highest frequency of allelic deletions were found on 8p (65%), where the minimally deleted region was between the PLA T locus and pter. The long arm of chromosome 16 had allelic deletions in 56% of informative cases, with three different break points, the most distal being located between D16S4 and D16S7. Chromosome 10 exhibited a complex deletion pattern with terminal deletions of the p or the q arm (2 cases each), a deletion pattern that could be interpreted as nonreciprocal translocations of the q arm (2 cases), or allelic losses on all informative loci, suggesting monosomy (2 cases). Our data suggest that tumor suppressor genes involved in the oncogenesis of prostatic carcinoma may be localized between 8 pter and the PLAT locus and that additional/alternative tumor suppressor genes may be localized on chromosome 10 and on the long arm of chromosome 16 distal to the D16S4 locus.
Improved interpretation of complex chromosomal rearrangements by combined GTG banding and in situ suppression hybridization using chromosome‐specific libraries and cosmid probes
Authors: Smit V. T. H. B. M. , Wessels J. W. , Mollevanger P. , Dauwerse J. G. , Van Vliet M. , Beverstock G. C. , Breuning M. H. , Devilee P. , Raap A. K. , Cornelisse C. J. 
Published: February 2007

AbstractChromosome aberrations of a hypodiploid ovarian carcinoma cell line (modal chromosome number 38) having a complex karyotype were analyzed using biotinylated DNA library probes that specifically hybridize to chromosomes 3, 6, 7, 8, 11, 13, and 16 from telomere (pter) to telomere (qter). A series of cosmid probes localized to the short arm of chromosome 16 were used to further investigate one of the two aberrant chromosomes 16 present in this cell line. The competitive in situ suppression (CISS) hybridization of DNA‐libraries was mostly performed subsequent to GTG‐banding of the same metaphase cell in order to interpret the hybridization signals optimally. This combined approach made it possible to detect the origin of chromosomal material that could not be identified using GTG‐banding. Furthermore, the in situ hybridization techniques appeared to be helpful in the characterization of complex translocations and for accurate breakpoint determination.