bluuebunny/crossref_metadata_2025_split huggingface dataset:
Visualization of INT2 and HST1 Amplification in oral squamous cell carcinomas
Authors: Lese Christa M. , Rossie Karen M. , Appel Billy N. , Reddy Jaya K. , Johnson Jonas T. , Myers Eugene N. , Gollin Susanne M. 
Published: February 2007

AbstractOral squamous cell carcinoma (OSCC) develops along a multistep genetic pathway including loss of tumor suppressor genes and alteration of oncogenes. We characterized seven OSCC cell lines by classical and molecular cytogenetic analysis and fresh tumor and adjacent oral mucosa corresponding to three of the cell lines by molecular cytogenetics. We observed homogeneously staining regions (hsrs) in four of the seven cell lines, at 11q13 in three and at 11q23 and in an unidentified marker chromosome in the fourth. Amplification of band 11q13 occurs in 30–60% of head and neck squamous cell carcinomas. To determine whether INT2 and HST1, both located in band 11q13, are amplified in the tissues and cell lines and to confirm the chromosomal location(s) of the amplification, we used dual‐color fluorescence in situ hybridization (FISH) with DNA probes for these genes and the chromosome 11 centromere. We report chromosomal localization of INT2/HST1 amplification in OSCC. Coamplification of INT2 and HST1 was detected in the hsrs in cultured tumor cells from the four hsr‐containing tumors and in directly harvested tumor cells, which were available from only two of these tumors. Amplification was not present in tumors lacking hsrs or adjacent oral mucosa corresponding to any of the seven tumors. The observation of amplification in fresh tumor cells suggests that the amplification was present in the patients, may play a key role in the development and/or progression of OSCC, and is not due to karyotypic evolution in vitro. The absence of amplification in the adjacent mucosa suggests that 11q13 amplification is a relatively late event in OSCC tumorigenesis.
Molecular characterization of mar, a multiple aberration region on human chromosome segment 12q13‐q15 implicated in various solid tumors
Authors: van de Ven Dr.Wim J. M. , Schoenmakers Eric F. P. M. , Wanschura Sylke , Kazmierczak Bernd , Kools Patrick F. J. , Geurts Jan M. W. , Bartnitzke Sabine , Berghe Herman Van Den , Bullerdiek Jörn 
Published: February 2007

AbstractChromosome arm 12q breakpoints in seven cell lines derived from primary pleomorphic salivary gland adenomas were mapped by FISH analysis relative to nine DNA probes. These probes all reside in a 2.8 Mb genomic DNA region of chromosome segment 12q13‐q15 and correspond to previously published sequence‐tagged sites (STS). Their relative positions were established on the basis of YAC cloning and long range physical and STS content mapping. The 12q breakpoints of five of the cell lines were found to be mapping within three different subregions of the 445 kb DNA interval that was recently defined as the uterine leiomyoma cluster region of chromosome 12 breakpoints (ULCR12) between STS RM33 and RM98. All seven breakpoints appeared to map within the 1.7 Mb DNA region between STS RM36 and RM103. Furthermore, the chromosome 12 breakpoints of three primary pleomorphic salivary gland adenomas were also found to be mapping between RM36 and RM103. Finally, FISH analysis of two lipoma cell lines with 12q13‐q15 aberrations pinpointed the breakpoints of these to relatively small and adjacent DNA segments which, as well as those of two primary lipomas, appeared to be located also between RM36 and RM103. We conclude from the observed clustering of the 12q breakpoints of the three distinct solid tumor types that the 1.7 Mb DNA region of the long arm of chromosome 12 between RM36 and RM103 is a multiple aberration region which we designate MAR.
Loss of heterozygosity on 7q31 occurs early during breast tumorigenesis
Authors: Champème Marie‐Hélène , Bièche Ivan , Beuzelin Michèle , Lidereau Rosette 
Published: February 2007

AbstractAlthough human breast tumorigenesis is associated with the accumulation of mutations both in oncogenes and in tumor suppressor genes, the identity of the genetic alterations that are critical in the early stages of the breast tumorigenic process remains obscure. A high frequency (27–41%) of loss of heterozygosity (LOH) occurrence has been shown at the MET locus on chromosome band 7q31 and this specific alteration is associated with poorer survival. Here, we report that restriction fragment length polymorphism (RFLP) analysis on 221 informative (heterozygous) primary breast tumors and 57 informative relapses (13 local recurrences and 44 distant metastases) revealed a similar frequency of 7q31 LOH as tumors progress from primary cancer to relapse, in marked contrast to other changes such as 11p15.5 LOH. This finding suggests that inactivation of a putative tumor suppressor gene located in 7q31 is a very early event in breast tumorigenesis. Our results also show that metastatic potential is an induced phenomenon that occurs at a relatively early stage, rather than a marker of tumor progression.
Fusion of the EWS Gene to a DNA segment from 9q22‐31 in a human myxoid chondrosarcoma
Authors: Gill Sandra , McManus Aidan P. , Crew A. Jayne , Benjamin Harry , Sheer Denise , Gusterson Barry A. , Pinkerton C. Ross , Patel Ketan , Cooper Dr.Colin S. , Shipley Janet M. 
Published: February 2007

AbstractSouthern blot analyses revealed a rearrangement of the EWS gene in a skeletal human myxoid chondrosarcoma. Interphase fluorescence in situ hybridization (FISH) studies, using cosmid clones F7 and G9 that flank the EWS locus on 22q12, confirmed the presence of this EWS gene abnormality. Cloning the rearranged EWS DNA fragment and mapping by FISH demonstrated that the EWS gene is joined to DNA sequences localised in 9q22‐31. These findings are consistent with previous cytogenetic reports of a recurrent t(9;22)(q22‐31;q11‐12) in the myxoid variant of chondrosarcoma and reveal involvement of the EWS gene in a fourth type of human sarcoma.
Deletion mapping of chromosome II in carcinoma of the bladder
Authors: Shaw Margaret E. , Knowles Margaret A. 
Published: February 2007

AbstractDeletions of the short arm of chromosome II have been identified by both cytogenetic and molecular criteria in bladder and other types of solid tumor, indicating the presence of one or more suppressor loci in this region. To localize the II p deletion target(s) more precisely and to screen for loss of heterozygosity (LOH) on the long arm of the chromosome, I00 bladder tumors were analyzed for LOH on chromosome II using restriction fragment length polymorphism (RFLPs) and microsatellite markers mapped to both II p and II q. Thirty‐four tumors were found to have LOH at I or more loci. Of these, I7 had LOH restricted to II p, I3 had LOH of both II p and II q, and 4 had LOH of II q only. Eight tumors showed LOH at all informative loci indicating probable loss of an entire copy of chromosome II. A common region of deletion was defined on II p between DIIS922(IIpI5.5) and DlIS569 (IIpI5.I‐I5.2). This region does not include the HRAS or WTI loci (at IIpI5.5and IIp13, respectively). Seventeen tumors had LOH on II q, 4 of which had LOH on II q only. The common region of deletion on II q was between FGF3 and DI IS490 (IIq I3‐q23.2). Two tumors showed LOH on both II p and II q with a clear region of retention of heterozygosity between, indicatinn the existence of two deletion targets on chromosome II. © 1995 Wiley‐Liss, Inc.
Frequent loss of chromosome arm Ip DNA in parathyroid adenomas
Authors: Cryns Vincent L. , Yi Su Min , Tahara Hideki , Gaz Randall D. , Arnold Andrew 
Published: February 2007

AbstractTwo molecular defects have been described in parathyroid adenomas: rearrangement and overexpression of the PRADI/cyclin DI oncogene and allelic loss of chromosome II DNA, often including the multiple endocrine neoplasia type I (MENI) putative tumor suppressor gene region. In an effort to identify additional parathyroid tumor suppressor genes, we examined 25 parathyroid adenomas for tumor‐specific allelic loss of polymorphic DNA loci located near known or candidate tumor suppressor genes. Control leukocyte DNA from all 25 patients was heterozygous for I or more of the 9 chromosome I markers examined. Allelic loss at I or more of these informative loci on chromosome I was observed in 10 of 25 (40%) adenomas. Although many tumors lost extensive regions on chromosome I, all but one of these tumors had allelic loss of distal I p (I p32‐pter); four tumors also lost loci on Iq. Allelic loss at IIqI3, the site of the MEN I gene, was detected in 5 of 2I (24%) informative cases, including 3 with Ip loss. In contrast, allelic loss was rarely observed at loci on 99 and Iop and was not observed at loci on 3p, 3q. 4p, 5q, I2q, I4q, I8q, 22q, or Xp. In summary, clonal allelic loss of loci on chromosome arm Ip is a frequent feature of parathyroid adenomas, implying that inactivation of a tumor suppressor gene(s) on Ip commonly contributes to their pathogenesis. © 1995 Wiley‐Liss, Inc.
Identification of two transcripts of AMLI/ETO‐fused gene in t(8;21) leukemic cells and expression of wild‐type ETO gene in hematopoietic cells
Authors: Era Takumi , Asou Norio , Kunisada Takahiro , Yamasaki Hiroshi , Asou Hiroya , Kamada Nanao , Nishikawa Shin‐Ichi , Yamaguchi Kazunari , Takatsuki Kiyoshi 
Published: February 2007

AbstractThe t(8; 21) is a common chromosomal abnormality, preferentially associated with acute leukemia showing features of myeloid differentiation. Recently, two genes–AMLI which has a unique runt domain, and ETO (MTG8)–have been isolated from the chromosomal breakpoint. In this study, we isolated and identified two fused transcripts from a leukemic cell line carrying t(8; 21). AMLI and ETO were fused at the same position in these transcripts. One of the transcripts codes a unique domain, including two zinc finger domains and three proline‐ and one leucine‐rich region. The other transcript codes only for one proline‐ and leucine‐rich region but lacks zinc finger domains. We demonstrated by polymerase chain reaction (PCR) analysis that I) these two transcripts are consistently expressed in leukemic cells with t(8; 21) obtained from patients and 2) expression of AMLI was not restricted to the particular stage of hematopoietic differentiation but was present in all hematopoietic cells investigated. We also provide evidence that two wild types of ETO transcripts containing the region of the ETO gene in fused transcripts are expressed in hematopoietic cells from different lineages. The widespread expression of AMLI and ETO in hematopoietic cells suggests a fundamental role of these proteins in hematopoiesis. Furthermore, the differences in the carboxy termini of ETO may modulate the activity of fused proteins resulting from the chromosomal translocation t(8; 21). © 1995 Wiley‐Liss, Inc.
Characterization of add(I)(p36) in non‐hodgkin lymphomas by fluorescence in situ hybridization
Authors: Bajalica Svetlana , Brøndum‐Nielsen Karen , Sørensen Anne‐Grethe , Pedersen Niels Tinggaard , Kristoffersson Ulf , Åkerman Måns , Anderson Margareta , Pisa Pavel , Nordenskjöld Magnus 
Published: February 2007

AbstractChromosome rearrangements involving chromosome I, band p36, are among the most common aberrations in non‐Hodgkin lymphomas (NHL). We have studied nine cases of NHL with add(I)(p36) using fluorescence in situ hybridization (FISH) from a series of 205 cases. Five were follicular low‐grade NHL and four were follicular or diffuse high‐grade NHL. Three of the five cases with follicular low‐grade NHL did not contain the 14; 18 translocation. The extra material on the add(l)(p36) in these three cases was derived from chromosome segment 2q31‐qter; in one it was observed as a sole clonal rearrangement. In the two remaining cases, with t(14; 18), the add(l)(p36) consisted of material from chromosome arms 3q and 17q, respectively. In the four cases of high‐grade NHL, the material added on to I p36 was derived from chromosomes 6, 9, 17, and 19, respectively. Using a I p36‐specific probe, DIS94, we showed a deletion on the add(I) in one of the cases with low‐grade NHL, whereas no loss was observed in one of the cases with high‐grade NHL. Our study indicates that cytogenetically similar add(l)(p36) are found in both high‐ and low‐grade NHL, and the breakpoint on Ip36 as well as the origin of translocated material may vary. © 1995 Wiley‐Liss, Inc.
Human chromosome II inhibits tumorigenicity of a murine squamous cell carcinoma cell line
Authors: Zenklusen Jean C. , Oshimura Mibuo , Barrett J. Carl , Conti Claudio J. 
Published: February 2007

AbstractLoss of heterozygosity (LOH) of mouse chromosome 7 has been consistently demonstrated in chemically induced murine squamous cell carcinomas (SCCs). The region of this chromosome presenting LOH in the mouse tumors is syntenic to human chromosome segments II p I5 and II q. To determine whether the introduction of human chromosome (Hchr) II can suppress the growth of murine SCC, we injected four clones of a chemically induced murine SCC cell line bearing an Hchr II into athymic BALB/c nude mice. All microcell hybrid clones with Hchr II (CH721Hchr II) had latency periods twice as long as those of the parental CH72 cells and control hybrids containing a Hchr 12. Tumor‐derived cells from CH721Hchr II hybrids had lost centromeric and telomeric sequences from Hchr II. All repressed cell lines grew significantly m e slowly in vitro than did the controls. These results suggest that Hchr II contains a tumor‐suppressor gene capable of inhibiting tumorigenicity in chemically induced SCC, confirming common pathways in the development of human neoplasias and the murine model. © 1995 Wiley‐Liss, Inc.
Loss of neurofibromatosis type I (NFI) gene expression in pheochromocytomas from patients without NFI
Authors: Gutmann David H. , Geist Robert T. , Rose Kamala , Wallin Goran , Moley Jeffrey F. 
Published: February 2007

AbstractThe neurofibromatosis type 1 (NFI) gene encodes a tumor‐suppressor protein termed neurofibromin, which, in adults, is expressed predominantly in neurons, Schwann cells, and the adrenal medulla. Loss of NFI gene expression has been reported in Schwann cell tumors (neurofibrosarcomas) from patients with NF1 as well as in malignant melanomas and neuroblastomas from patients without NF1. Previously, we demonstrated the lack of neurofibromin expression in six pheochromocytomas from patients with NF1, supporting the idea that neurofibromin might be an essential regulator of cell growth in these cells. To determine whether NFI gene expression is similarly altered in pheochromocytomas from patients without NF1, we examined 20 pheochromocytomas for the presence of NFI RNA and neurofibromin by reverse‐transcribed polymerase chain reaction (RT‐PCR) and immunohistochemistry, respectively. Reduced or absent NFI gene expression was documented in 7 of these 20 tumors (35%) including 1 of 4 sporadic tumors, 3 of 10 tumors from patients with multiple endocrine neoplasia (MEN) 2A, 2 of 4 tumors from patients with MEN2B, and 1 of 2 tumors from patients with von Hippel‐Lindau syndrome. In addition, most of these tumors expressed predominantly the type 1 NFI isoform (75% type 1 NFI isoform expression) as opposed to other neural crest‐derived tissues such as adrenal gland and Schwann cells, which express predominantly type 2 NFI. This type 1 isoform predominance was also observed in the rat pheochromocytoma PC 12 cell line, suggesting that this change in isoform expression may be associated with the genesis of these tumors. These results collectively demonstrate that loss of NFI gene expression is associated with progression to neoplasia in tumors originating from neural crest‐derived cells in patients without clinical manifestations of neurofibromatosis, and they support the notion that neurofibromin is a tumor‐suppressor gene product involved in the pathogenesis of a wide variety of tumor types. © 1995 Wiley‐Liss, Inc.
Characterization of a t(I0; II) (pI3‐I4; qI4‐2I) in the monoblastic cell line U937
Authors: Shipley Janet , Williams Sarah , O'Byrne Anne , Kearney Lyndal , Jones Tania , Young Bryan , Dyer Martin , Catovsky Daniel , Sheer Denise , Gusterson Barry 
Published: February 2007

AbstractPrevious analysis of the monoblastic cell line U937 has shown that several sublines contain a rearranged chromosome arm I I q. In order to determine the true nature of the rearrangement, fluorescence in situ hybridization (FISH) was carried out with various combinations of single copy anonymous markers, clones containing genes, a chromosome 10 paint, and an I I centromere specific sequence. The rearrangement was deduced to be a reciprocal translocation between chromosomes 10 and 11 described as t( 10; 11 )(p 13‐ 14;q 14‐21 ). The breakpoint on chromosome 11 is telomeric to the /NT2 gene and the pHS11 probe at 11 q 13, and centromeric to the marker D 11536 localized to 11q 14.3‐q22. 1 and the MLL gene at 11 q23. Similar translocations have been reported in various acute leukemias, principally of the monocytic lineage, and also in T‐cell precursor acute lymphocytic leukemias. Further characterization of the genetic rearrangements in U937 may lead to the isolation of genes important in leukemogenesis and provide an in vitro system for their study. © 1995 Wiley‐Liss, Inc.
Loss of heterozygosity on the short arm of chromosome 3 in sporadic, von hippel‐lindau disease‐associated, and familial pheochromocytoma
Authors: Zeiger Martha A. , Zbar Berton , Keiser Harry , Linehan W. Marston , Gnarra James R. 
Published: February 2007

AbstractPheochromocytomas occur sporadically and are associated with several dominantly inherited cancer syndromes, including von Hippel‐Lindau (VHL) disease. We examined 14 pheochromocytomas (four from VHL patients, nine from sporadic patients, and one from a patient with familial pheochromocytoma) for loss of heterozygosity on chromosome arm 3p by using the polymerase chain reaction and restriction fragment length polymorphisms at eight loci. Loss of heterozygosity was detected in 8 of 14 pheochromocytomas examined: in three of the four VHL‐associated tumors, in four of the nine sporadic tumors, and in the familial pheochromocytoma‐associated tumor. Deletion of the inherited wild‐type VHL allele was demonstrated in both informative VHL‐associated pheochromocytomas, demonstrating involvement of VHL in pheochromocytoma development. However, because VHL mutations have not been detected in sporadic pheochromocytomas, VHL and/or another chromosome arm 3p gene may be involved in the etiology of these tumors. © 1995 Wiley‐Liss, Inc.
Accumulation of genetic changes during development and progression of hepatocellular carcinoma: Loss of heterozygosity on chromosome arm Ip occurs at an early stage of hepatocarcinogenesis
Authors: Kuroki Tamobu , Fujiwara Yoshiyuki , Tsuchiya Eiju , Nakamori Shouji , Imaoka Shingi , Kanematw Takashi , Nakamura Yusuke 
Published: February 2007

AbstractTo investigate cumulative genetic changes during development and progression of hepatocellular carcinoma (HCC), we examined DNAs isolated from I04 tumors for loss of heterozygosity (LOH) at I 3 loci on six chromosomal arms and for an increase of copy number (“multiplication”) of alleles on 8q, using polymorphic microsatellite markers. A comparison of genetic features with clinicopathological stages of these tumors revealed that LOH on I p had occurred in tumors at an early stage or with a well‐differentiated histological phenotype (8/26 31 %) as well as in tumors at more advanced stages. Genetic alterations on chromosome arms 4q. 8p, 8q, I 3q, I6q, and I7p were more often observed in tumors of more advanced stages and poorer differentiation grades. When size was the criterion for comparison, LOH on I p was observed frequently even in tumors smaller than 2 cm (6/16; 38%), whereas allelic losses on 16q were detected frequently only in larger tumors. These results suggest that the putative tumor suppressor gene(s) assumed to be located on I p may be involved in an early step of carcinogenesis in liver tissue and that the other genetic alterations examined here may play important roles in progression of HCC. © 1995 Wiley‐Liss, Inc.
Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree
Authors: Van Der Luijt Rob B. , Tops Carli M. J. , Khan P. Meera , Van Der Klift Heleen M. , Breukel Cor , Van Leeuwen‐Cornelisse Inge S. J. , Dauwerse Hans G. , Beverstock Geoffrey C. , Van Noort Ellen , Snel Pleun , Slors Frederik J. M. , Vasen Hans F. A. , Fodde Riccardo 
Published: February 2007

AbstractFamilial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer caused by germline mutations in the adenomatous polyposis coli (APC) gene located on chromosome segment 5q21‐q22. We detected a germline rearrangement of the APC gene in a Dutch FAP family by screening genomic DNA samples with APC cDNA probes. Subsequent molecular and cytogenetic studies revealed a constitutional reciprocal translocation t(5; 10) (q22; q25) that resulted in the disruption of the APC gene. Southern blot and polymorphic marker analysis indicated that part of the APC gene had been deleted. Analysis of the APC protein product indicated that the translocation breakpoint did not lead t o the formation of a detectable truncated APC protein but apparently resulted in a null allele. Evaluation of the clinical phenotypes in the patients suggested that they exhibited features of an unusual form of FAP characterized by a slightly delayed age of onset of colorectal cancer and a reduced number of colorectal polyps. The latter were mainly sessile and were located predominantly in the proximal colon. To our knowledge, this is the first description of FAP caused by a reciprocal translocation disrupting the APC gene. © 1995 Wiley‐Liss, Inc.
A new cytogenetic subgroup in uterine leiomyoma is characterized by a deletion of the long arm of chromosome 3
Authors: Cin Paola Dal , Moerman Philippe , Deprest Jan , Brosens Ivo , Berghe Herman Van Den 
Published: February 2007

AbstractOur cytogenetic findings in 175 uterine leiomyomas revealed 52 tumors with clonal chromosome abnormalities, eight of which did not belong to any well‐delineated cytogenetic abnormal subgroup. However, an interstitial deletion of the long arm of chromosome 3 was found, as the sole chromosome abnormality, in three cases. We believe that this involvement of 3q is significant enough to consider it as a new cytogenetic subgroup of uterine leiomyoma. © 1995 Wiley‐Liss, Inc.
Loss of heterozygosity on the X chromosome in human breast cancer
Authors: Loupart Marie‐Louise , Adams Susan , Armour John A. L. , Walker Rosemary , Brammar William , Varley Jennifer 
Published: February 2007

AbstractThe analysis of loss of heterozygosity (LOH) in tumours can be a powerful tool for mapping the sites of tumour suppressor genes in the human genome. A panel of breast cancer patients was assembled as pairs of tumour and lymphocyte DNA samples and LOH studies carried out by Southern hybridisation with polymorphic loci mapping to the X chromosome with appropriate controls. Deletion mapping revealed a high frequency of small regionalised deletions, defining at least three independent regions, one of which is particularly well mapped to a 500 kb stretch of DNA in the distal portion of the pseudoautosomal region of Xp. A second region has been identified within the pseudoautosomal region close to the pseudoautosomal boundary, and there is a third discrete site of loss on distal Xq. Perturbations of sequences at these regions represent independent events in a number of patients. This study represents the first detailed analysis of LOH on the X chromosome in human breast tumours, the results of which indicate that at least three regions of this chromosome are involved in the disease. © 1995 Wiley‐Liss, Inc.