bluuebunny/crossref_metadata_2025 huggingface dataset:
Resolution of the Navier–Stokes equations on block‐structured meshes
Authors: Romé C. , Glockner S. , Caltagirone J. P.
Published: February 2007

We propose a non‐iterative method to connect non‐matching block‐structured meshes applied to the resolution of the Navier–Stokes equations. The present article gives a complete description of the method based on the implicit treatment of the connecting condition. We also extend it to curvilinear meshes. The spatial convergence order of the method is shown to be two and the approach is validated on different 2D laminar flows frequently found in the literature. Copyright © 2007 John Wiley & Sons, Ltd.
Characteristic karyotypic anomalies identify subtypes of malignant fibrous histiocytoma
Authors: Mandahl Nils , Heim Sverre , Willén Helena , Rydholm Anders , Eneroth Magnus , Nilbert Mef , Kreicbergs Andris , Mitelman Felix
Published: February 2007

Cytogenetic analysis of short‐term cultures from 25 malignant fibrous histiocytomas (MFH) revealed clonal chromosome abnormalities in 17 tumors: ten storiform‐pleomorphic and seven myxoid MFH. Telomeric associations, rings, and dicentric chromosomes were present in 11 tumors and cytogenetic signs of gene amplification (homogeneously staining regions and double minute chromosomes) in four. The breakpoint distribution of the numerous structural rearrangements was nonrandom. The chromosome bands most frequently affected were 19p13 (in eight tumors; eight rearrangements gave rise to 19p+ markers, some of which looked similar, and an r(19) was found in one case), 11p11 (in seven tumors; three translocations and four deletions), 1q11 (in seven tumors; one translocation and six deletions), and 3p12 (in six tumors; all deletions). Other bands involved at least four times were 1p36, 5p15, and 20q13. Of particular clinical interest was the observation that tumors with 19p+ seemed to have a pronounced tendency to recur locally (local recurrence in five of eight tumors with 19p+ compared to one of nine in tumors without this aberration; observation period 4–16 months).
Chromosome I deletions in human neuroblastomas: Generation and fine mapping of microclones from the distal Ip region
Authors: Martinsson Tommy , Weith Andreas , Cziepluch Celina , Schwab Manfred
Published: February 2007

Human neuroblastomas show a high incidence of deletions in the distal region of the short arm of chromosome 1. In pursuit of a molecular analysis of these deletions, we have generated a microclone bank from microdissected 1p35‐pter chromosomal fragments. To allow a rapid localization of the microclones, we have also generated a panel of (human X mouse) hybrid cell lines through microcell‐mediated chromosome transfer. The hybrid cells contained different portions of the human chromosome 1 on a murine background. A total of 20 randomly chosen single or low‐copy microclones were localized by Southern analysis on DNA of the hybrid panel: All probes were derived from chromosome 1. Sixteen mapped in region 1p36.I‐pter, two in 1p22‐p36.1, and another two in 1 cen‐qter. The mapping of ten of these microclones was further refined by in situ hybridization. Cells of the neuroblastoma line GI‐ME‐N carry two types of chromosome 1, one cytogenetically normal and another with a translocation reported to be in 1p36.2, i.e., a t(1;?)(p36.2;?) marker. Using cell hybridization, we separated the two chromosome 1 types of GI‐ME‐N into different hybrid cell clones. Southern hybridization of three microclones from distal 1p to DNA of the hybrid cell clones revealed that the breakpoint in the translocated chromosome 1 was located in 1p36.1.
Complex karyotypic anomalies in a bizarre leiomyoma of the uterus
Authors: Nilbert Mef , Heim Sverre , Mandahl Nils , Flodérus Ulla‐Maria , Willén Helena , Baldetorp Bo , Mitelman Felix
Published: February 2007

Cytogenetic investigation of short‐term cultures from a bizarre leiomyoma of the uterus, a tumor type not hitherto karyotypically characterized, revealed two abnormal clones with multiple complex rearrangements. Three‐fourths of the aberrant cells were hypodiploid with the composite karyotype 38–44, XX,−6,−7,−10,−11,+20,−22, r(1), der(2) (:2p23→cen→2q13::1q21→1qter), der(2)t(2;9)(p21;q13), t(5;?)(q35;?), t(5;?),(q35;?), + der(5)t(5;15)(q11;q15), der(8)t(8;11)(q24;q13), t(15;?)(p12;?), der(16)t(12;16)(q13;p13),+r,+mar. The remaining abnormal mitoses were hypotetraploid, with chromosome numbers ranging from 74 to 86. These massively rearranged cells showed the same markers that were found in the hypodiploid clone, but in duplicate, indicating that this clone had arisen through polyploidization of hypodiploid cells. Flow cytometry revealed a DNA index of 1.03.
Recurring loss involving chromosomes 1, 3, and 22 in malignant mesothelioma: Possible sites of tumor suppressor genes
Authors: Flejter Wendy L. , Li Frederick P. , Antman Karen H. , Testa Joseph R.
Published: February 2007

Cytogenetic analysis was performed on short‐term cultures of primary tumor tissue obtained from five patients with pleural malignant mesothelioma. Clonal karyotypic abnormalities were detected in four patients, none of whom had received cytotoxic therapy prior to karyotypic evaluation. Recurring chromosomal changes included partial deletions of 1p and 3p, and monosomy of 18, 19, and 22. We also reviewed data on 24 previously reported pretreatment patients and determined that alterations of chromosomes 1, 3, and 22 are frequently associated with malignant mesothelioma. Partial loss of chromosome 1 due to deletions or other rearrangements most frequently involve bands 1p11‐pter with the shortest region of overlap (SRO) occurring at 1p21–p22 in our patients. Deletions and other structural changes of chromosome 3 usually involve the region 3p14‐p25. The SRO of 3p deletions appeared to be at band 3p21. Monosomy 22 represents the most consistent specific whole chromosome loss seen in malignant mesothelioma, being observed in 11 of 28 cases summarized. In addition, structural changes of 22q have been observed in three patients, and a breakpoint at 22q11 was reported in each case. Taken collectively, these data suggest that a cascade of events involving alterations of genes on more than one specific chromosome may play a critical role in the development of malignant mesothelioma. The pattern of recurring chromosomal loss, particularly of 1p, 3p, and 22q, indicates that these regions should be targeted for future molecular investigations into the possible involvement of suppressor genes in this malignancy.
Neuroblastoma consensus deletion maps to 1p36.1–2
Authors: Weith Andreas , Martinsson Tommy , Cziepluch Celina , Brüderlein Silke , Amler Lukas C. , Berthold Frank , Schwab Manfred
Published: February 2007

At least 70% of human neuroblastomas display cytogenetically visible aberrations in the short arm of chromosome 1. We have used a panel of probes detecting polymorphic DNA loci, most of which were derived from a library of microdissected distal 1p chromosome fragments, to compare the hybridization pattern of DNA on nine different tumors and the corresponding normal tissue. In eight of the neuroblastomas allelic loss was observed with at least two probes. The deletions were of different size. Since a consensus deletion in all eight tumors included the segment 1p36.1–2, we conclude that genetic information related to neuroblastoma tumorigenesis is located within this approximately 10 megabase segment. Previous studies have revealed the amplification of MYCN in neuroblastomas. Our study did not provide evidence for a correlation between MYCN amplification and the 1p deletion, suggesting that the two genetic alterations result from molecular mechanisms that are not directly related to each other.
Use of fluorescent in situ hybridization to confirm trisomy of chromosome region 1q32‐qter as the sole karyotypic defect in a colon cancer cell line
Authors: Griffin Darren K. , Leigh Sarah E. A. , Delhanty Joy D. A.
Published: February 2007

The sole chromosome defect in a colon cancer cell line derived from a patient with inherited nonpolyposis colorectal cancer was karyotypically designated as 46, XY,−13,+der(13)t(1;13)(q32.1;p11) on the basis of banding homology. We have obtained molecular confirmation that the additional chromosome material is derived from chromosome region 1q32‐qter by the use of a highly specific fluorescent in situ hybridisation technique on G‐banded chromosomes and also by Southern hybridisation.
Immunohistochemical, molecular, and cytogenetic analysis of a consecutive series of 20 peripheral t‐cell lymphomas and lymphomas of uncertain lineage, including 12 Ki‐I positive lymphomas
Authors: Ebrahim Salah A. D. , Ladanyi Marc , Desai Suvas B. , Offit Kenneth , Jhanwar Suresh C. , Filippa Daniel A. , Lieberman Philip H. , Chaganti R. S. K.
Published: February 2007

Although several independent series of non‐Hodgkin's lymphomas (NHLs) have been subjected to cytogenetic studies or analyses of lineages by assaying for clonal immunophenotypes and clonal rearrangements affecting immunoglobulin (IG) and T‐cell receptor (TCR) genes, no published reports exist of series of non‐B‐cell NHLs on which cytogenetic, immunohistochemical, and IG and TCR gene rearrangement studies have been undertaken together. Among 434 NHLs ascertained prospectively between January 1984 and December 1988 at the Memorial Sloan‐Kettering Cancer Center, 278 cases with clonal chromosome abnormalities were identified. Of the latter, 20 were non‐B‐cell NHLs, which in turn comprised 15 peripheral T‐cell lymphomas (PTCLs) and 5 lymphomas of uncertain lineage (LULs). The LULs either were bigenotypic, had discordant immunophenotype and immunogenotype, or showed no evidence of B‐cell, T‐cell, or histiocytic derivation. Of the 15 PTCLs, eight expressed the Ki‐1 antigen and four of these had translocations involving the band 5q35 [t(5q35)]. Of the five LULs, four expressed the Ki‐1 antigen and one of these had a translocations involving band 5q35. Previous studies have associated t(5q35) with Ki‐1 positive NHLs characterized histologically by a pleomorphic diffuse large cell morphology. In our series of 12 Ki‐positive non‐B‐cell NHLs, five (42%) had a 5q35 translocation. They were histologically indistinguishable from the subset without the translocation. The frequent lineage uncertainty exhibited by Ki‐1 positive NHLs of similar histology and cytogenetic abnormalities suggests their derivation from an early uncommitted lymphoid cells.
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

The 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

In 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

A 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

Stable 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

Cytogenetic 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

The 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

DNA 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

Six 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

Oligonucleotide 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

The 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

Malignant 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

Cytogenetic 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

The 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

The 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

Cytogenetic 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

A 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

In 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

Chromosome 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.
Cytogenetics of papillary renal cell tumors
Authors: Kovacs Gyula , Fuzesi Laszlo , Emanuel Angela , Kung Hsiang‐Fu
Published: February 2007

Chromosome aberrations were determined in short‐term cultures of 18 papillary renal cell tumors, as well as in the cell line ACHN, and the results were evaluated together with 20 previously published cases. We found that chromosomes 7, 17, and 16 and the Y chromosome were specifically involved in the karyotype changes in this tumor type. A combination of tri‐ or tetrasomy 7 and trisomy 17, as the only autosomal karyotype changes, marks benign papillary renal cell adenomas (ten cases). Malignant papillary renal cell carcinomas (29 cases) were characterized by additional trisomies: trisomy 16 occurred in 20 tumors, and trisomy 12 and 20 in 8 tumors each. Loss of the Y chromosome was observed in 7 of 9 benign and in 23 of 25 malignant tumors that developed in males. None of the papillary renal cell adenomas or carcinomas showed a loss of 3p or gain of a 5q segment, both of which are characteristic of common non‐papillary renal cell carcinomas.
Cytogenetics of renal cell carcinomas associated with von hippel‐Lindau disease
Authors: Kovacs Gyula , Emanuel Angela , Neumann Hartmut P. M. , Kung Hsiang‐Fu
Published: February 2007

To establish the chromosome pattern, we have analyzed short‐term cultures of 24 renal cell carcinomas (RCC) from four patients with von Hippel‐Lindau disease (VHL). We evaluated the results together with those for 16 RCCs from two VHL patients karyotyped previously in our laboratory and those of 6 tumors published by others. In all 46 RCCs, the cells had lost the shortest overlapping region of the 3p 13‐pter chromosome segment. The rearrangement of 3p was the only karyotype change in 20 tumors. In more than 50% of the tumors, a gain of the shortest overlapping region of the 5q22‐qter segment was detected. Comparative analysis showed that the chromosome aberrations in RCCs associated with VHL are similar to those found in sporadic RCCs. These results indicate that non‐papillary sporadic and VHL‐RCCs have common genetic mechanisms that result in the loss of the 3p 13‐pter region containing one or more putative suppressor genes.
A complex chromosome rearrangement forms the BCR‐ABL fusion gene in leukemic cells with a normal karyotype
Authors: Morris Christine , Kennedy Martin , Heisterkamp Nora , Columbano‐Green Letizia , Romeril Kenneth , Groffen John , Fitzgerald Peter
Published: February 2007

Chromosome in situ hybridization studies showed that the normal karyotype of leukemic cells from a patient with Ph1‐ negative, BCR‐positive chronic myeloid leukemia (CML) concealed a complex t(9;22;20)(q34;q 11;p13). The close association of 5′‐BCR and 3′‐ABL was demonstrated by field inversion gel electrophoresis, and in situ hybridization showed that BCR‐ABL was located on the short arm of chromosome 20. Our findings further indicate that chromosome rearrangement is the cause of BCR‐ABL gene fusion in leukemic cells that show a normal karyotype. Results from in situ hybridization studies were consistent with formation of the t(9;22;20) by a two step chromosomal rearrangement, but field inversion gel electrophoresis results indicated a more complex rearrangement.
Involvement of the RAFI locus, at band 3p25, in the 3p deletion of small‐cell lung cancer
Authors: Graziano Stephen L. , Pfeifer Andrea M. , Testa Joseph R. , Mark George E. , Johnson Bruce E. , Hallinan Edward J. , Pettengill Olive S. , Sorenson George D. , Tatum Arthur H. , Brauch Hiltrud , Zbar Berton , Flejter Wendy L. , Ehrlich Garth D. , Poiesz Bernard J.
Published: February 2007

The ability to establish long‐term cell lines of small‐cell lung cancer (SCLC) has provided an in vitro model for the disease. We report on the characterization of 10 new human SCLC cell lines established from 34 cytopathologically positive specimens. Based on morphologic and biochemical characterization, growth properties, and expression of MYC and neuroendocrine properties, eight cell lines were categorized as “classic” and two cell lines as “variant.” Cytogenetic examination revealed loss of all or part of 3p in all nine SCLC cell lines analyzed. The smallest deletion in common was found at 3p21–3p25. Restriction fragment length polymorphism (RFLP) analyses with probes for 3p were performed for correlation with karyotypic data and supported the cytogenetic findings. In 21 SCLC specimens (cell lines and tumor tissue) with normal DNA, used for comparison, we observed loss of heterozygosity at RAFI (3p25) in ten of ten informative pairs by using two RFLPs from the RAFI locus. In addition, loss of heterozygosity was noted in nine of 10 pairs examined with DNF 15S2 (3p21) and four of four with D3S3 (3p 14). Analysis of cell lines and tumor specimens that lacked paired normal tissue showed a homozygous pattern with the RAFI probes in all 18 cases. Northern blots revealed significant expression of RAFI in all cell lines tested. The transcript size was normal. The cytogenetic and RFLP data suggest that the RAFI locus at 3p25 is involved in the chromosomal deletion of SCLC.
Cytogenetics of Synovial Sarcoma: Presentation of Ten New Cases and Review of the Literature
Authors: Limon J. , Mrozek K. , Mandant N. , Nedoszytko B. , Verhest A. , Rys J. , Niezabitowski A. , Babinska M. , Nosek H. , Ochalek T. , Kopacz A. , Willén H. , Rydholm A. , Heim S. , Mitelman F.
Published: February 2007

Cytogenetic study of five biphasic and five monophasic synovial sarcomas revealed the specific abnormality t(X; 18) (p 11;q 11 ) in eight cases and t(X;15;18) (p11;q15;q111) and t(X;7) (q11–12;q32) in one case each. Additional, secondary aberrations were present in eight of these tumors. By combining our data with information on previously published cytogenetically abnormal synovial sarcomas, we were able to evaluate 32 tumor samples from 29 patients. The modal chromosome number was pseudodiploid or near diploid in 26 of the 32 tumors. A t(X; 18) was present in 21 of 29 cases (72%). Complex translocations involving chromosomes X and 18 and another autosome were present in five cases, and one displayed a t(5; 18). There was no visible rearrangement of chromosome bands Xp 11 or 18q 11 in only 2 of the 32 synovial sarcomas. Half of the primary tumors (6 of 12) had the X; 18‐translocation as the sole abnormality. Of the remaining 20 specimens from recurrent or metastatic tumors (in three cases two tumors could be analyzed), only one had t(X;18) as the sole change. The secondary aberrations in cases exhibiting clonal evolution were also generally more extensive in the metastatic and recurrent than in the primary sarcomas (five additional aberrations per case, compared with two). Chromosomes 1 and 12 were the chromosomes most frequently (one fourth of the cases) involved in additional structural changes, but with several different breakpoints. No differences were identified between the karyotypic profiles of monophasic and biphasic synovial sarcomas.
Fine Mapping of Probes in the Adenomatous Polyposis Coli Region of Chromosome 5 by In Situ Hybridization
Authors: Williams Sarah V. , Jones Tania A. , Cottrell Sally , Zehetner Günther , Varesco Liliana , Ward Tristan , Thomas Huw , Lawson Paul A. , Solomon Ellen , Bodmer Walter F. , Frischauf Anna‐Marie , Sheer Denise
Published: February 2007

The gene for adenomatous polyposis coli has been localized to 5q21–22. We have mapped six probes from this region using isotopic or nonisotopic in situ hybridization. Using tritium‐labeled probes we localized 11227 (D5S37) to 5q 14–15 and ECB27 (D5S98) to 5q21. Following hybridization with biotin‐labeled probes, the positions of signals along the chromosomes were measured as fractional length relative to the length of the chromosome arm from centromere to qter (FLcen‐qter). Ninety‐five percent confidence limits, compared with standard karyotypes, provided the corresponding band localization. By this method we localized C11 p 11 (D5S71) to FLcen‐qter 0.407–0.452 (5q21.1–21.3), ECB27 to FLcen‐qter 0.426–0.473 (5q21.3), YN5.48 (D5S8I) to FLcen‐qter 0.459–0.496 (5q21.3–22.2), and ECBI34 (D5S97) to FLcen‐qter 0.509–0.533 (5q22.3–23.1). ECB220 had three sites of hybridization, a major site at FLcen‐qter 0.460–0.492 (5q21.3–22.1) and minor sites at FLcen‐qter 0.299–0.339 (5q 14.3–15) and FLcen‐qter 0.629–0.691 (5q23.3–31.2). We have shown that the chromosome 5 breakpoint in a t(5;15) translocation from a patient with Gardner's syndrome (GM03314) is between C11 p11 and ECB27. Linkage data are presented suggesting that ECB27 is located on the same side of the APC locus as 11227. These and published results including data on several constitutional deletions (M, SD, and brothers PW and ND) give a probable order of [cen] ‐ [11227, proximal SD breakpoint] ‐ [C111 p11] ‐ [proximal PW/ND, M breakpoint(s), GMO33 14 breakpoint] ‐ [ECB27] ‐ [APC] ‐ [YN5.48] ‐[distal PW/ND breakpoint] ‐ [ECB134] ‐ [distal M breakpoint] ‐ [qter]. The major site of ECB220 appears to be between ECB27 and the distal PW/ND breakpoint; the distal SD breakpoint is distal to YN5.48.
Molecular Definition of Interstitial Deletions of Chromosome 13 in Leukemic Cells
Authors: Morris Christine M. , Cochrane Jill M. , Benjes Suzanne M. , Crossen Peter E. , Fitzgerald Peter H.
Published: February 2007

Three patients with leukemia and one with a myeloproliferative disorder carried an interstitial deletion of chromosome 13, del(13)(q12q14), in leukemic cells. Proximal and distal breakpoints of the deleted segment were characterized by using DMA restriction fragment length polymorphisms of chromosome 13 supplemented by quantitative densitometry of hybridization signals to determine the copy number of individual loci. Both proximal and distal breakpoints varied between patients, and it is unlikely that a significant hybrid gene was formed by rejoining at the breakpoint junctions. The retinoblastoma gene was encompassed by the deleted segment in all four patients.
Cytogenetic abnormalities in renal oncocytic neoplasms
Authors: Dobin Sheila M. , Harris Charles P. , Peterson Robert F. , Speights V. O. , Reynolds James A. , Scott Coffield K. , Klugo Richard C.
Published: February 2007

We have performed cytogenetic studies on five renal oncocytic neoplasms (three grade 2 tumors and two grade 1 tumors) identified histologically by light microscopy. One grade 1 tumor failed to produce mitotic cells. The other four tumors exhibited both normal and abnormal cell lines. Numerical abnormalities were found in both the single grade 1 and two of the grade 2 tumors whereas structural abnormalities were limited to grade 2 tumors. Aneuploidy of chromosome 12 was observed in both grade 1 and 2 tumors. Grade 2 tumors showed more extensive numerical change than the grade 1 tumors. Abnormalities of chromosome 3 characteristic of renal cell carcinoma were not found in any tumor in this series. A combination of C‐banding and HaeIII endonuclease banding was used to identify an ambiguous marker. In our four cases and in the cases previously reported, loss of a sex chromosome, abnormalities of chromosomes 1 and 22, and trisomy 12 are findings most often observed in renal oncocytoma.
Chromosome aberrations in an alpha‐fetoprotein‐producing hepatoblastoma
Authors: Annerén Göran , Nordlinder Hans , Hedborg Fredrik
Published: February 2007

The cytogenetic findings of an alpha‐fetoprotein (AFP)‐producing hepatoblastoma in a 14‐month‐old girl are reported. Ten of 36 tumor cells were chromosomally abnormal, yielding the composite karyotype 47,XX,2q+, t(3;5)(p25;q31),dup(4)(q12q26), + 20. Three of the chromosomal abnormalities (2q +, break at 4q12, + 20) have been reported previously and might be of pathogenetic significance.
Cytogenetic analysis of renal angiomyolipoma
Authors: Debiec‐Rychter Maria , Saryusz‐Wolska Hanna , Salagierski Marek
Published: February 2007

Chromosome analysis of a benign, unilateral, renal angiomyolipoma revealed the karyotype 44,XX, –8, –12, –14, –21, + der (8q14q), + der(12)(12pter → 12q14‐15:: 12q24 → 12q14–15::21q21 → 21 qter). This indicates that structural changes of 12q13‐15, which are so frequently observed in the common malignant and benign lipogenic tumors, may also occur in the rarer variants of these neoplasms.
The 11q23 breakpoint in acute leukemia with t(11;19)(q23;p13) is distal to those of t(4;11), t(6;11) and t(9;11)
Authors: Cherif Dorra , Der‐Sarkissian Hera , Derré Josette , Berger Roland , Tokino Takashi , Nakamura Yusuke
Published: February 2007

Thirteen cosmid probes were mapped on the long arm of chromosome 11 between 11q22 and 11q24 by nonradioactive in situ hybridization. Starting with these localizations and those of other probes mapped to 11q23, four acute leukemias with translocations involving 11q23 were studied with the same method. The translocation breakpoints of the t(4;11)(q21;q23), t(6;11)(q27;q23), t(9;11)(p21–p22;q23), and t(11;19)(q23;p13) were confirmed to be distal to CD3D. The probe cC11 1–304 was proximal to the t(11;19) breakpoint while distal to the breakpoints of the other rearrangements. In view of the diversity of chromosomal abnormalities involving band 11q23, our finding extends the molecular heterogeneity of the breakpoint localization in leukemias with rearrangements involving 11q23.
t(11;18)(q21;q21.1): A recurring translocation in lymphomas of mucosa‐associated lymphoid tissue (malt)?
Authors: Horsman Douglas , Gascoyne Randy , Coupland Robert , Klasa Richard
Published: February 2007

A distinct subtype of extranodal malignant lymphoma derived from mucosa‐associated lymphoid tissues (MALT) has recently been defined. We have detected an acquired t(11;18)(q21;q21.1) in a patient with a MALT lymphoma of the stomach. This translocation has previously been described in two other patients with extranodal lymphoma. The BCL2 oncogene, which is located at band 18q21.3 and is activated by the t(14;18)(q32;q21) in follicular lymphoma, was not rearranged in this case. This newly identified t(11;18) may be a recurring translocation specifically associated with MALT lymphomas. Genes located at the breakpoint sites of chromosome 11 and/or chromosome 18 may be crucial to the pathogenesis of this type of malignant lymphoma.