bluuebunny/crossref_metadata_2025_split huggingface dataset:
The 12q13‐q15 translocation breakpoints in pleomorphic adenoma and clear‐cell sarcoma of tendons and aponeuroses are different from that in myxoid liposarcoma
Authors: Stenman Göran , Sahlin Pelle , Mark Joachim , Chaganti R. S. K. , Kindblom Lars‐Gunnar , Åman Pierre 
Published: February 2007

AbstractThe transcription factor gene CHOP was recently shown to be rearranged in myxoid liposarcoma with t(12;16)(q13;p11). We have analyzed whether the CHOP gene is the target of rearrangements in pleomorphic adenoma and clear‐cell sarcoma of tendons and aponeuroses with chromosome abnormalities of 12q13‐q15. Restriction fragment analysis showed that the CHOP gene and its flanking sequences were not rearranged in any of these tumor types, indicating that the 12q translocation breakpoints in pleomorphic adenoma and clear‐cell sarcoma are different from that in myxoid liposarcoma. © 1993 Wiley‐Liss, Inc.
Analysis of deletions of the long arm of chromosome 11 in hematologic malignancies with fluorescence in situ hybridization
Authors: Kobayashi Hirofumi , Espinosa Rafael , Fernald Anthony A. , Begy Catherine , Diaz Manuel O. , Beau Michelle M. Le , Rowley Janet D. 
Published: February 2007

AbstractWe studied samples containing deletions of the long arm of chromosome 11 (11 q) from patients with hematologic malignancies by using cytogenetic and fluorescence in situ hybridization (FISH) techniques. Cytogenetic analysis of 28 patients and of a cell line showed that all deletions included band 11q23. FISH analysis demonstrated that the proximal part of 11q23, including NCAM, was deleted in 13 of 15 patients and the cell line. Recurring chromosomal losses in human tumors have been regarded as evidence that the affected regions contain tumor‐suppressor genes. These results suggest that the putative tumor‐suppressor gene is proximal to the MLL gene which is also located in 11q23. © 1993 Wiley‐Liss, Inc.
Testicular germ cell tumors of adults show deletions of chromosomal bands 11 p13 and 11p15.5, but no abnormalities within the zinc‐finger regions and exons 2 and 6 of the wilms' Tumor 1 Gene
Authors: Looijenga Leendert H. J. , Gillis Ad J. M. , Oosterhuis J. Wolter , Abraham Mary , Sunders Grady F. 
Published: February 2007

AbstractWe have studied the involvement of chromosomal bands 11 p13 and 11p15.5 in 15 testicular seminomas (SE) and 18 testicular nonseminomatous germ cell tumors (NS). NO allelic imbalances were found in 40% of the SE and 44% of the NS. LOSS of heterozygosity (LOH) at 11 p 15.5 was seen in 21 % of the SE and 47% of the NS; the corresponding frequencies for 11 p 13 were 47% and 44%. Both regions were deleted in 13% of the SE and 44% of the NS, indicating that all NS with a complete LOH of 11 p 13 also lost the 11 p 15.5 region. In one (out of two) SE and in five (out of eight) NS, this was due to at least two separate deletions. Loss of the whole p‐arm was likely in one SE and two NS. No gross genomic changes of the Wilms' tumor 1 (WT1) tumor suppressor gene were found using a cDNA probe (WT33). Nor were aberrations found in the zinc‐finger regions and exons 2 and 6 of this gene, using polymerase chain reaction amplification, single stranded DNA polymorphism analysis, and sequencing. We suggest that loss of genetic information from the short arm of chromosome 11, without affecting the WT1 gene in the regions studied, is relatively frequent but not crucial in the pathogenesis of testicular germ cell tumors of adults. Genes Chrom Cancer 9:153‐160 (1994). © 1994 Wiley‐Liss, Inc.
Polysomy of chromosome 12 in 60 patients with non‐hodgkin's lymphoma assessed by fluorescence in situ hybridization: Differences between follicular and diffuse large cell lymphoma
Authors: Younes Anas , Goodacre Angela , Andreeff Michael , Pugh William , Katz Ruth , Rodriguez Maria A. , Hill Debbie , Cabanillas Fernando 
Published: February 2007

AbstractSixty consecutive evaluable specimens from patients with non‐Hodgkin's lymphoma (NHL) were studied for the incidence of polysomy of chromosome 12 by fluorescence in situ hybridization (FISH) with probes for the repetitive DNA sequence in the centromeric region of chromosome 12. Thirty‐six samples were from follicular lymphomas (FLs), and twenty‐four were from diffuse large cell lymphomas (DLCLs). Fifty‐two specimens (86%) were obtained by fine‐needle aspiration of a diseased node, seven (11.6%) were from involved bone marrows, and one specimen was from a pleural effusion. Twelve of the thirty‐six (33%) cases with FL had trisomy 12 in 3‐41% of the cells (median, 10%) (normal controls had three signals in 1.4 +M 0.7% of cells). Trisomy 12 was found in 62% of the patients who had had FL for more than 5 years. Nine of the twenty‐four cases (37%) with DLCL had more than two copies of chromosome 12 in 4‐92% of the cells (median, 78%), and all nine cases were of B‐cell phenotype. Unlike FL cells, some DLCL cells had 4‐6 copies of chromosome 12. In previously untreated patients, 54% of DLCLs and 26% of FLs had subpopulations of cells containing more than two copies of chromosome 12 (P = 0.04). Only 2/7 cases of DLCL with polysomy 12 had rearrangement of the BCL2 gene, indicating that the majority of DLCL cases with polysomy 12 did not result from histologic transformation of low grade follicular lymphomas. These data demonstrate that FISH of interphase cells is a sensitive method for detecting numerical abnormalities of chromosome 12 in NHL. The differences between FL and DLCL in the number of chromosomes 12 and the number of involved cells may be related to differences in the biology of these tumors. Genes Chrom Cancer 9:161‐167 (1994). © 1994 Wiley‐Liss, Inc.
Numerical chromosomal aberrations in thyroid tumors detected by double fluorescence in situ hybridization
Authors: Taruscio Domenica , Ried Thomas , Ward David C. , Carcangiu Maria Luisa 
Published: February 2007

AbstractDouble fluorescence in situ hybridization with DNA probes specific for the (peri)centromeric regions of chromosomes 3, 7, 9, 11, 12, 18, and X was performed on fresh isolated nuclei and frozen tissue sections prepared from 2 nodular hyperplasias, 2 adenomas, and 7 papillary carcinomas of the thyroid in order to detect numerical chromosomal changes. Numerical chromosomal aberrations were found in all malignant specimens examined. A consistent presence of at least two trisomies was detected in most cases, especially in the follicular variant specimens; the highest degree of trisomy was observed for chromosome 12. Isolated monosomies of moderate degree for different chromosomes were found in 1 adenoma and 2 papillary carcinomas. Severe monosomy of chromosome 9 was the only significant feature observed in the single metastatic papillary carcinoma. Genes Chrom Cancer 9:180‐185 (1994). © 1994 Wiley‐Liss, Inc.
Cytogenetic aberrations in 188 benign and borderline adipose tissue tumors
Authors: Mandahl Nils , Höglund Mattias , Mertens Fredrik , Mitelman Felix , Rydholm Anders , Willén Helena , Brosjö Otte 
Published: February 2007

AbstractChromosome studies of lipomas have revealed an extensive cytogenetic heterogeneity. To investigate the frequencies of previously recognized cytogenetic subgroups and to find out if more recurrent rearrangements can be identified, we have analyzed cytogenetically short‐term tissue cultures of 237 samples from 188 adipose tissue tumors obtained from 142 patients. Only one of 58 tumors from 18 patients with multiple lipomas (more than two tumors) had karyotypic changes. Among the sporadic lipomas, 20 tumors had supernumerary ring chromosomes of unknown origin, 55 had different aberrations involving chromosome segment 12q13‐15, 11 had changes of 6p or chromosome 13, but no rings or 12q13‐15 changes, and 14 had various other aberrations. Ring chromosomes were found in all cytogenetically abnormal lipomas histologically classified as atypical and in nine tumors classified as typical lipoma or spindle cell lipoma. Recombinations between 12q 13‐15 and a few other bands or segments were seen more than once: 3q27‐28 (15 tumors), 2p22‐24 and 2q35 (four tumors), 1 p32‐34 and 13q 12‐14 (three tumors), and 5q33 (two tumors). Recombinations of 12q 13‐15 with 2q35 and 13q 12‐14 have not been described before. Of eight tumors with chromosome 13 aberrations, five had loss of 13q material. Aberrations of 12q 13‐15, 6p, and/or chromosome 13 were found simultaneously in nine tumors. Two to four samples from the same tumor were investigated in 29 tumors with clonal aberrations. Thirteen of these tumors displayed clonal evolution, also noted in another 17 tumors in which only one sample had been investigated. Thus clonal evolution occurred in 30% of the tumors and was particularly frequent in atypical lipomas. Genes Chrom Cancer 9:207‐215 (1994). © 1994 Wiley‐Liss, Inc.
Deletion of chromosome arm 1p in a merkel cell carcinoma (MCC)
Authors: Gibas Zenon , Weil Susan , Chen Sing‐Tsung , McCue Peter A. 
Published: February 2007

AbstractA case of neuroendocrine skin carcinoma (Merkel cell carcinoma) with a deletion of the short arm of chromosome 1 (1p) as the sole chromosomal abnormality was examined. The tumor originated in the skin of the left knee of a 67‐year‐old man. Histopathologic study showed an undifferentiated small cell tumor which expressed neuron‐specific enolase, chromogranin, and cytokeratin (CAM 5.2). Cytogenetic analysis of a lymph node metastasis from the groin showed a pseudodiploid cell population with a deletion of the short arm of chromosome 1 as the only abnormality: 46,XY,del( 1 )(p36.1). In situ hybridization with the DI22 probe specific for the terminal band of 1 p confirmed the terminal deletion. This is the first case of Merkel cell carcinoma in which only one chromosomal abnormality has been observed. Loss of the terminal portion of 1p suggests that a tumor supressor gene on 1p plays a role in the pathogenesis of Merkel cell carcinoma. Genes Chrom Cancer 9:216‐220 (1994). © 1994 Wiley‐Liss, Inc.
MDM2 gene amplification correlates with ring chromosomes in soft tissue tumors
Authors: Nilbert Mef , Mitelman Felix , Mandahl Nils , Rydholm Anders , Willén Helena 
Published: February 2007

AbstractThe human homolog of the murine double minute type 2 gene (MDM2) has been cloned and mapped to 12q 13‐14. The gene presumably functions as a cellular regulator and mediator of TP53 function. Amplification of the MDM2 gene has recently been observed in soft tissue sarcoma and in osteosarcoma. We studied MDM2 amplification in a series of 94 mesenchymal tumors and found 3‐20‐fold amplification in 20 tumors: in 10 of 49 malignant fibrous histiocytomas (MFH), in 1 of 2 pleomorphic liposarcomas, in 6 of 7 atypical lipomas, and in 3 of 12 typical lipomas. Normal hybridization patterns were detected in all 16 myxoid liposarcomas, in all 3 leiomyosarcomas, and in all 5 leiomyomas studied. The MDM2 amplification correlated with the presence of marker ring chromosomes; of the 10 MFH with MDM2 amplification, 5 had ring chromosomes, compared to 4 of 39 without MDM2 amplification, and all 9 lipomas with MDM2 amplification had ring chromosomes, in 5 of the tumors as the sole karyotypic anomaly. The correlation between ring chromosomes and MDM2 gene amplification indicates that the marker rings of MFH and of atypical lipoma often harbor genetic material derived from chromosome 12. Genes Chrom Cancer 9:26 1‐265 (1994). © 1994 Wiley‐Liss, Inc.
Evidence that wild‐type TP53, and not genes on either chromosome 1 or 11, controls the tumorigenic phenotype of the human fibrosarcoma HT1080
Authors: Anderson Michael J. , Fasching Clare L. , Stanbridge Eric J. , Casey Graham 
Published: February 2007

AbstractThe specific transfer of normal chromosomes via microcell fusion has been instrumental in identifying putative tumor suppressor gene loci in a variety of human cancers. Using this same technique it has been proposed that the tumorigenicity of the human fibrosarcoma cell line HT1080 is controlled by functionally distinct tumor suppressor genes on human chromosomes 1 and 11. To address these results and perhaps further localize the suppressive effect to particular regions on these two chromosomes, we transferred into HTI080 seven different fibroblast‐derived human chromosomes containing either intact or discrete portions of chromosome I or II. Interestingly, we found no evidence of genes on these chromosomes that could alter the growth of HT1080 either in vitro or in vivo. Based on these results we were left with the possibility that a gene, or genes, residing on an entirely different chromosome(s) was involved in the tumorigenesis of HTI080. Since TP53 mutation has been documented in a variety of human tumor types, and we found both copies of TP53 to be mutated in HTI080, we were prompted to examine its role by both cDNA transfection and chromosome transfer. Although by cDNA transfection we found that expression of exogenous wild‐type TP53 was incompatible with continued proliferation of HTI080 cells in vitro, chromosome 17 transfer studies revealed that a more physiologic expression of exogenous wild‐type TP53 could be tolerated in vitro while being completely incompatible with growth in vivo. These studies demonstrate a differential effect of TP53 growth inhibition and clearly show that TP53 tumor suppressing function can be independent from its potent growth suppressing effect in vitro. Genes Chrom Cancer 9:266‐281 (1994). © 1994 Wiley‐Liss, Inc.
Malignant rhabdoid tumor of the kidney: Involvement of chromosome 22
Authors: Shashi Vandana , Lovell Mark A. , Von Kap‐Herr Christopher , Waldron Peter , Golden Wendy L. 
Published: February 2007

AbstractCytogenetic and molecular studies have demonstrated that involvement of 22q is a non‐random finding in malignant rhabdoid tumors (MRTs) of the brain. We present an MRT of the kidney with the karyotype 47,XY, +i(I)(q 10), der(8)t(8;22)(q12;q11.2),der(22)t(8;22)(q23 or q24.l;q11.2). This unbalanced reciprocal translocation was confirmed by fluorescence in situ hybridization (FISH) with chromosome‐specific paints for chromosomes 8 and 22. Molecular analysis demonstrated a partial deletion of 22q in the BCR region at q 11.2, strengthening the suspicion that this is a critical region for the initiation or progression of these highly malignant neoplasms. Establishing non‐random cytogenetic changes in MRTs arising from the kidney may be of value in distinguishing these rare, but often fatal tumors from other renal neoplasms that mimick them histologically. The similarity in cytogenetic and molecular abnormalities between renal and extra‐renal MRTs argues against the concept that extra‐renal MRTs are only representative of a rhabdoid phenotype, rather than being true rhabdoid tumors. Genes Chrom Cancer 10:49–54 (1994). © 1994 Wiley‐Liss, Inc.
Detailed deletion mapping of chromosome segment 17q12‐21 in sporadic breast tumours
Authors: Nagai Maria A. , Yamamoto Lidia , Salaorni Sibeli , Pacheco Mércia M. , Brentani M. Mitzi , Barbosa Edson M. , Brentani Ricardo R. , Mazoyer Sylvie , Smith Simon A. , Ponder Bruce A. J. , Mulligan Lois M. 
Published: February 2007

AbstractLinkage studies have indicated that a gene on chromosome arm 17q, designated BRCAI, confers susceptibility to familial breast and ovarian cancer. To investigate the possible involvement of the BRCAI gene in sporadic breast cancer we have analysed loss of heterozygosity (LOH) in a panel of 100 sporadic primary breast tumours using 10 PCR‐based polymorphic markers from 17q12–21. Allele losses were detected in 40 of 100 tumours informative for at least one of the markers analysed. Of these 40 deleted tumours, 27 showed partial or interstitial loss on 17q. The pattern of LOH in the tumours with partial or interstitial LOH revealed three putative distinct deleted regions on 17q12–21. The first lies on the proximal long arm between D17S250 and THRAI; the second one lies between D17S776 and D17S579, the region containing the BRCAI gene; and the third is telomeric to D17S733. The most frequently deleted region overlaps with the minimal region containing the BRCAI gene, suggesting that this gene might also be associated with the development or progression of a proportion of sporadic breast tumours.
AMLI fusion transcripts in t(3;21) positive leukemia: Evidence of molecular heterogeneity and usage of splicing sites frequently involved in the generation of normal AMLI transcripts
Authors: Sacchi Nicoletta , Nisson Paul E. , Watkins Paul C. , Faustinella Fabrizia , Wijsman Jacqueline , Hagemeijer Anne 
Published: February 2007

AbstractThe t(3;21)(q26;q22) is associated with chronic myelogenous leukemia in blast crisis (CML‐BC), leukemia evolving from (therapy‐related) myelodysplasia, and with leukemia following other hematopoietic proliferate diseases. Molecular cytogenetic analysis and cloning of a few t(3;21) cases indicate that the breakpoints are quite heterogeneous even within a specific clinical phenotype. Interestingly some of the (3;21) breakpoints involve the AMLI gene previously found rearranged in the t(8;21) associated with acute myelogenous leukemia. AMLI is related to the Drosophila gene runt and is the human counterpart of the gene for the α subunit of the nuclear polyoma enhancer binding protein (PEBP2) also known as the core binding factor (CBF). In the t(3;21) AMLI was found rearranged with EAP, a gene on chromosome 3 encoding a small ribosomal protein, as well as with EVII, another gene on chromosome 3. Here we report our study of six cases of t(3;21). By using fluorescence in situ hybridization (FISH) analysis and AMLI probes we could conclude that at least in two CML‐BC cases the breakpoint occurred in the AMLI intron that is disrupted by the t(8;21). An AMLI/EAP fusion transcript, different from the one described in a therapy‐related myelodysplasia, was detected in both CML‐BC cases. This transcript is expected to result in a predicted protein containing the AMLI nuclear binding domain with an attached stretch of 17 amino acids unrelated to the EAP small ribosomal protein. In the other t(3;21) patients we could not detect an AMLI/EAP transcript or an AMLI/EVII transcript. This result suggests heterogeneity of the t(3;21) at the molecular level. The AMLI chimeric transcripts identified so far, both in the t(3;21) and in the t(8;21), diverge from the normal transcripts either after exon 5 or exon 6. Here we show that in normal AMLI transcripts different splicing events are seen to occur after AMLI exon 5 as well as exon 6.
A constitutional bws‐related t(11;16) chromosome translocation occurring in the same region of chromosome 16 implicated in wilms' tumors
Authors: Newsham Irene , Kindler‐Röhrborn Andrea , Daub Douglas , Cavenee Webster 
Published: February 2007

AbstractBeckwith‐Wiedemann syndrome (BWS) is a congenital overgrowth disorder with a varying spectrum of clinical manifestations including macroglossia, omphalocele, hemihypertrophy, and a predisposition to a subset of embryonal tumors, most frequently Wilms' tumor (WT). A variety of cytogenetic, genetic linkage, and molecular mapping data implicate a gene or genes on chromosome band 11p15.5 in BWS and its related tumors. However, some families with BWS do not show linkage to 11p15, and other alterations have been found in Wilms' tumors as well. One such alteration is loss of heterozygosity (LOH) for chromosome arm 16q. Here we have analyzed a balanced t(11;16)(p15;q13) chromosomal translocation associated with the BWS phenotype and mapped the breakpoint positions for both chromosomes 11 and 16 by using somatic cell hybrids and polymorphic markers. The chromosome 11 breakpoint was found to lie distal to the D11S12 locus, but proximal to TH on 11p15.5, a region shown previously to contain other BWS‐related chromosomal events. The chromosome 16 breakpoint was distal to D16S290 in 16q13, but proximal to loci D16S265, D16S267, and D16S164 in band 16q21. This area encompasses the region of LOH occurring through mitotic recombination in sporadic WT. This raises interesting possibilities for the genetic and epigenetic involvement of both chromosomal regions (11p15 and 16q13) in the pathogenesis of BWS and Wilms' tumor.
Allelic imbalance on chromosome I in human breast cancer. II. Microsatellite repeat analysis
Authors: Hoggard Nigel , Brintnell Bill , Varley Jennifer , Howell Anthony , Weissenbach Jean 
Published: February 2007

AbstractWe have determined regions of allelic imbalance in human breast cancer cells using highly polymorphic microsatellite markers, which can be rapidly typed by the polymerase chain reaction (PCR) using very small amounts of DNA. It appears that there are several regions of chromosome I which may be the targets of allelic imbalance, including some regions which have been identified previously by different groups. The detail with which we have mapped these regions of imbalance is, however, much greater than has been previously reported, and we have been able to localise these regions to small intervals of the genome. In addition we have identified previously uncharacterised regions of allelic imbalance on chromosome arm 1p, one of which (at 1p22–31) is lost in a high proportion of malignant lesions. We are currently attempting to analyse this latter region in detail in order to identify and characterise the sequence(s) involved. Study of such regions should help us understand some of the mechanisms underlying the development and progression of breast cancer.
Analysis of the joining sequences of the t(15;17) translocation in human acute promyelocytic leukemia: Sequence non‐specific recombination between the pml and rara genes within identical short stretches
Authors: Yoshida Hitoshi , Naoe Tomoki , Fukutani Hisashi , Kiyoi Hitoshi , Kubo Kazuaki , Ohno Ryuzo 
Published: February 2007

AbstractMolecular analysis of the t(15;17) translocation in 70 patients with acute promyelocytic leukemia (APL) confirmed that the breakpoints of chromosome 15 were located in two regions of the promyelocytic leukemia (PML) gene, mainly introns 3 and 6, whereas the breakpoints of chromosome 17 were consistently in intron 2 of the retinoic acid receptor alpha (RARA) gene. To study the reason for the clustering of the breakpoints and the underlying mechanism of the chromosomal translocation, we characterized the joining sequences of der(15) and der(17) by polymerase chain reaction in samples from eight patients with APL. There was no cluster of the breakpoints within the introns, and no consensus sequence‐motif was found around them. One or nine extra nucleotides were inserted into two joining sites. There were identical stretches of one to seven nucleotides between the PML and RARA genes in the majority of the joining sequences. These data provide a potential model of the t(15;17) translocation: random DNA double strand cleavage, modification of DNA ends by enzymes including terminal deoxynucleotidyl transferase, and single strand base‐pairing within identical short stretches. Furthermore, APL develops only when the PML and RARA genes are rearranged within restricted genomic regions and a functional PML‐RARA chimeric product is produced, and this might lead to a clustering of the breakpoints.