bluuebunny/crossref_metadata_2025_split huggingface dataset:
Patterns of dna amplification at band q13 of chromosome 11 in human breast cancer
Authors: Karlseder Jan , Zeillinger Robert , Schneeberger Christian , Czerwenka Klaus , Speiser Paul , Kubista Ernst , Birnbaum Daniel , Gaudray Patrick , Theillet Charles 
Published: February 2007

AbstractIn an attempt to verify the nature of amplification events at band q13 on chromosome 11 we surveyed the amplification status of ten molecular markers specific for this region (GSTP, SEA, D11S97, D11S146, BCLI, PRAD1/CCND1, HST/FGF4, INT2/FGF3, EMS1, and D11S833E) in a panel of 389 primary breast carcinoma DNA samples. Eighty‐eight tumors (23%) showed at least one of these markers amplified, but in a majority of the cases amplification encompassed more than one of the tested loci. Our data confirm that amplicons at 11q13 can cover large portions of DNA and are consistent with the existence of several cores of amplification. One important core seems to be, as previously described, centered around PRAD1/CCND1; 57 tumors (14.7%) showed amplification at PRAD1/CCND1 either alone (one tumor) or along with amplification of BCL1 or INT2/FGF3. The level of amplification of PRAD1/CCND1 sometimes exceeded that of surrounding markers. Three additional amplification events occurring independently of amplification of PRAD1/CCND1 were also detected. Centromeric to BCL1, probes to D11S97, and D11S146 detected amplification in 60 tumors (15.4%) and were often the only amplified markers. Telomeric to INT2/FGF3, D11S833E was found amplified alone in ten tumors, and it was the most amplified marker in another six cases. At a shorter distance of INT2/FGF3, EMS1 was the only amplified marker in two tumors, with a level of amplification that could exceed that of PRAD1/CCND1 and D11S833E. Our data thus suggest the existence of four independent amplified regions within band 11q13 in breast cancer. Genes Chrom Cancer 9:42‐48 (1994). © 1994 Wiley‐Liss, Inc.
RARA and PML gene rearrangements in acute promyelocytic leukemia with complex translocations and atypical features
Authors: McKinney Christopher D. , Williams Michael E. , Golden Wendy L. , Gemma Nicholas W. , Swerdlow Steven H. 
Published: February 2007

AbstractThe translocation t(15;17) associated with acute promyelocytic leukemia (APL) results in fusion of the retinoic acid receptor alpha (RARA) gene on chromosome 17 with the putative transcription factor gene, PML, on chromosome 15. We report three cases of APL with complex cytogenetic translocations and five cases with atypical phenotypic features with rearrangements within or adjacent to the second intron of the RARA gene. Two patients demonstrated three‐way translocations involving chromosomes 3, 15, and 17, but with differing breakpoints on the short arm of chromosome 3. A third patient developed a complex karyotype at the time of third relapse, but with no change in RARA and PML gene rearrangement pattern. Three patients had normal karyotypes; however, only small numbers of cells could be analyzed. One patient's leukemic cells expressed the T‐cell‐associated antigen CD2 and revealed T‐cell receptor β and γ gene rearrangements. The localization of breakpoints to the second intron of the RARA gene in cytogenetically and phenotypically atypical cases provides additional support for a requisite role of the PML/RARA fusion gene in the pathogenesis of APL. Genes Chrom Cancer 9:49‐56 (1994). © 1994 Wiley‐Liss, Inc.
Localization of amplified MYC gene sequences to double minute chromosomes in acute myelogenous leukemia
Authors: Slovak Marilyn L. , Ho Jennifer Pelkey , Pettenati Mark J. , Khan Aziz , Douer Daniel , Lal Shail , Thomas Traweek S. 
Published: February 2007

AbstractCytogenetic and molecular studies were performed on two dmin‐bearing acute myelogenous leukemia (FAB‐M2) samples. Both cases were characterized by complex karyotypes containing interstitial deletions of the long arm of chromosome 8 altering band 8q24.1, aberrations affecting the short arm of chromosome 17, and multiple double minute chromosomes (dmin). Using a 1.4 kb cDNA probe coding for the third exon of the MYC oncogene, DNA slot blots indicated MYC gene sequences were amplified in both samples. Fluorescence in situ hybridization using a 9.0 kb genomic probe for MYC was performed in one we and localized the amplified MYC gene sequences to the dmin. Neither patient achieved a complete remission using traditional induction chemotherapy. The complex karyology with amplification of MYC gene sequences appears to represent a poor prognostic subgroup of acute myelogenous leukemia. Genes Chrom Cancer 9:62‐67 (1994). © 1994 Wiley‐Liss, Inc.
Cardiac myxoma characterized by clonal telomeric association
Authors: Richkind Kathleen E. , Wason Debra , Vidaillet Humberto J. 
Published: February 2007

AbstractWe report on the cytogenetic analysis of a case of cardiac myxoma of the “syndrome myxoma” type, in which clonal telomeric associations between chromosomes 13 and 15, as well as nonclonal telomeric associations between chromosomes 12 and 17 and between chromosome 2 and an unidentified chromosome were observed. Nonclonal structural abnormalities were also present. This is the second reported case of cytogenetic abnormalities of syndrome cardiac myxoma, and the fourth case in which telomeric associations have been described. Genes Chrom Cancer 9:68‐71 (1994). © 1994 Wiley‐Liss, Inc.
Deletion mapping of the short arm of chromosome 3 in human malignant mesothelioma
Authors: Lu You Yong , Cheng Jin Quan , Testa Joseph R. , Jhanwar Suresh C. 
Published: February 2007

AbstractPrevious cytogenetic investigations have revealed frequent deletions and ocher unbalanced structural rearrangements of 3p in human malignant mesothelioma. We have performed a restriction fragment length polymorphism analysis by using the polymerase chain reaction and primer sets for seven DNA markers to examine loss of heterozygosity (LOH) from 3p in 25 malignant mesotheliomas. Among 24 cases informative at one or more 3p loci, 15 (62.5%) exhibited LOH with at least one marker. Deletion mapping in these tumors indicates that the common region of chromosomal loss resides within band 3p21, in the vicinity of the D3F15S2 locus. These results suggest that allelic loss from 3p21 is a frequent Occurrence in malignant mesothelioma and that one or more putative tumor suppressor genes at this site contribute to the pathogenesis of this malignancy.Genes Chrom Cancer 9:76‐80 (1994). © 1994 Wiley‐Liss, Inc.
The spectrum of TP53 mutations in bladder carcinoma
Authors: Williamson Magali P. , Elder Patricia A. , Knowles Margaret A. 
Published: February 2007

AbstractThe mutational spectrum for the TP53 gene was investigated in a large series of bladder tumors and bladder tumor cell lines. Tumors and cell lines were screened for the presence of TP53 point mutations by single‐strand conformational polymorphism analysis followed by direct sequencing. Mutations were detected in 16 of 88 (18%) tumors and 4 of 14 cell lines (28%). In total, twelve missense mutations, one nonsense mutation, three deletions, and two insertions were identified by direct sequencing. Of the thirteen point mutations sequenced, only one was a transition at a CpG site, whereas five G:C → T:A transversions were found, suggesting a major role for exogenous mutagens in bladder tumorigenesis. Tumors were also examined for loss of heterozygosity (LOH) on chromosome arm 17p. LOH of one or more markers on 17p was detected in 31 % of tumors. All eight tumors with a TP53 mutation from patients informative at TP53 had LOH, whereas nine tumors with LOH at TP53 did not have an identified mutation. Three tumors had LOH on 17p at sites distal to the TP53 locus but retained both TP53 alleles, suggesting the involvement of another tumor suppressor gene on 17p in bladder tumorigenesis in some tumors. Genes Chrom Cancer 9:108‐118 (1994).© 1994 Wiley‐Liss, Inc.
Dedifferentiated chondrosarcoma with t(9;22)(q34;q 11‐12)
Authors: Tarkkanen Maija , Knuutila Sakari , Wiklund Tom , Virolainen Martti , Elomaa Inkeri 
Published: February 2007

AbstractTranslocation t(9;22)(q22‐31;q 1 1‐12) is associated with the myxoid variant of chondrosarcorma We present here a report of a patient with a dedifferentiated grade IV chondrosarcorna, which originated from the iliac bone and contained areas of grade I chondrosarcoma There was no evidence of myxoid differentiation. The tumor had the karyotype 46,X,‐X,t(9;22)(q34;q 1 1 ‐12). + mar[5]/52‐61,x?,2‐3dmin,inc[9]/46,XX[2]. It is possible that the different breakpoints in the t(9;22) may reflect different histopathologic subgroups of chondrosarcoma. Genes Chrom Cancer 9:136‐140 (1994). © 1994 Wiley‐Liss, Inc.
Deletion mapping reveals two regions of chromosome 8 allele loss in colorectal carcinomas
Authors: Yaremko M. Lisa , Wasylyshyn Marina L. , Paulus Kristen L. , Michelassi Fabrizio , Westbrook Carol A. 
Published: February 2007

AbstractColorectal carcinogenesis is associated with the accumulation of genetic changes involving both dominant oncogenes and tumor suppressor genes. Although at least four different genes have been implicated in the process, the detection of allele loss from other regions of the genome suggests the involvement of additional genes. The short arm of chromosome 8 is one of these regions; loss of heterozygosity occurs at rates ranging from 30 to 50%. To define the region of common deletion containing the putative tumor suppressor gene, we analyzed a series of 87 carcinomas for allele loss in different regions of the short arm of chromosome 8 by using Southern blot analysis and a panel of polymorphic probes. We found allele loss in 33% of our cases, which involves two separate regions, one in the p‐terminal region of the chromosome, 8p23.1 ‐pter, where 45% of informative cases demonstrated loss, and the other in the mid‐p region, at 8p21, where 31% of cases showed allele loss. No tumors showed loss of heterozygosity for both regions. These findings suggest the presence of two discrete genes related to colorectal carcinogenesis on the short arm of chromosome 8. Genes Chrom Cancer 10:1–6 (1994). © 1994 Wiley‐Liss, Inc.
Myelodysplastic syndrome transforming to acute promyelocytic‐like leukemia with trisomy and rearrangement of chromosome II
Authors: Najfeld Vesna , Chen Alex , Scalise Angela , Ambinder Edward P. , Fernandez Gloria , Waxman Samuel 
Published: February 2007

AbstractVariants of the t(15;17)(q22;q12‐q21) chromosomal rearrangement associated with acute promyelocytic leukemia (APL) have been previously described and they frequently involve either chromosome 15 and/or 17. Previously we reported a rare variant t(11;17). We now describe two patients with myelodysplastic syndrome (MDS) that transformed to APL‐like leukemia. Both had trisomy 11 at the diagnosis of APL‐like leukemia. Following treatment for APL, patient I reverted to MDS and showed a normal karyotype. When leukemia recurred, his bone marrow karyotype was 47,XY,t(4;11), +11,der(22)t(1;22). Both patients were treated with all‐trans retinoic acid (ATRA) for APL for 5 weeks, but failed to respond. The karyotype of patient I after ATRA treatment was 46,XY,t(4;11); the trisomy 11 had been lost and the bone marrow was replaced with immature myeloblasts without promyelocytes. In patient 2, the karyotype remained the same as at diagnosis, i.e., 47,X,‐Y,dir ins(4;7),del(5), +6,del(7), +8, +11,‐18. Molecular analysis by reverse transcriptase PCR analysis showed the presence of wild type retinoic acid receptor alpha (RARA) and the absence of the PML‐RARA chimeric gene associated with t(15;17). Additional analysis of PLZF, a new zinc finger gene associated with t(11;17), also showed the absence of this hybrid gene. These data support the concept that APL is a heterogeneous disorder and that variants with chromosome 11 rearrangement exist that do not respond to ATRA. Genes Chrom Cancer 10:15–25 (1994). © 1994 Wiley‐Liss, Inc.
Deletion of a common region on the long arm of chromosome 6 in acute lymphoblastic leukaemia
Authors: Menasce Lia P. , Orphanos Vassilis , Santibanez‐Koref Mauro , Boyle John M. , Harrison Christine J. 
Published: February 2007

AbstractWe have characterised a region of deletion on the long arm of chromosome 6 (6q) in six cases of acute lymphoblastic leukaemia, by fluorescence in situ hybridisation, using a series of YAC clones which map to 6q. Conventional cytogenetic analysis of four of these cases had been interpreted as showing terminal deletions of 6q. We demonstrated by FISH that in all cases the deletions were interstitial. D6S246 (6q16.3) was the only marker which was missing in all six cases, indicating a common region of deletion between the markers M6PI at 6q14–15 and FYN at 6q21. Our results suggest the presence of a tumour suppressor gene within this interval. Genes Chrom Cancer 10:26–29 (1994). © 1994 Wiley‐Liss, Inc.
Deletions on chromosome 22 in sporadic meningioma
Authors: Ruttledge Martin H. , Xie Ya‐Gang , Han Fei‐Yu , Peyrard Myriam , Collins V. Peter , Nordenskjöld Magnus , Dumanski Jan P. 
Published: February 2007

AbstractMeningiomas are the second most common group of primary central nervous system tumors in humans. Cytogenetic and molecular studies imply that genes involved in the primary development of meningioma reside on chromosome 22. The recently characterized neurofibromatosis type 2 gene (NF2) has been shown to be mutated in two cases of sporadic meningioma, suggesting that this is the chromosome 22 gene which is involved in tumorigenesis. We have investigated a series of 170 meningiomas by deletion mapping analysis with 43 markers from chromosome 22 to ascertain if NF2 is the only gene on this autosome that is inactivated. Half of the tumors showed results consistent with monosomy for chromosome 22, whereas 13 cases showed terminal deletions of 22q, including the NF2 region. Homozygous (complete) deletions were detected in tumors from two patients. In one of them complete loss was found at the NF2 locus and cosmid contigs from the region were used to determine the extent of the deletions. The second tumor showed homozygous loss of two large genomic regions outside the NF2 region. These aberrations were confined to only one part of this large tumor, suggesting that they may be involved in the later stages of meningioma development An additional four tumors had interstitial deletions on chromosome 22, in three of them without overlap with NF2. Our results show that NF2 is completely inactivated in sporadic meningioma but do not rule out the possibility that additional chromosome 22 loci are important in tumorigenesis. Genes Chromosom Cancer 10:122–130 (1994). © 1994 Wiley‐Liss, Inc.
Identification of a subclass of double minute chromosomes containing centromere‐associated DNA
Authors: Hammond David W. , Hancock Barry W. , Goyns Malcolm H. 
Published: February 2007

AbstractIn a study of abnormal chromosomes in non‐Hodgkin's lymphoma (NHL) cells we have identified one case which contained extrachromosomal chromatin bodies that, on the basis of their morphology and negative C‐banding, appeared to be double minute chromosomes (dmin). However, fluorescence in‐situ hybridization (FISH) analysis using an X‐specific centromeric alphoid repeat probe and a pan‐centromere probe, clearly demonstrated the presence of centromere‐associated DNA in these dmin. FISH analysis with the pan‐centromere probe of the dmin in neuroblastoma and sarcoma cells failed to reveal the presence of centromere‐associated DNA, but analysis of two cases of acute myeloid leukaemia cells revealed centromere‐associated DNA in 25% of their dmin. These data indicate the existence of dmin that contain centromere‐associated DNA and suggest that such dmin might represent a new class of extrachromosomal chromatin bodies. Genes Chromosom Cancer 10:139–142 (1994). © 1994 Wiley‐Liss, Inc.
Clonal karyotypic abnormalities in colorectal adenomas: Clues to the early genetic events in the adenoma‐carcinoma sequence
Authors: Bomme Lilian , Bardi Georgia , Pandis Nikos , Fenger Claus , Kronborg Ole , Heim Sverre 
Published: February 2007

AbstractCytogenetic analysis of short‐term cultures from colorectal adenomas revealed acquired clonal chromosome aberrations in 14 of 17 tumors. In 4 adenomas, only numerical changes were found, whereas 10 had structural rearrangements. Trisomy 7 was found as the sole change in one of the tumors and together with other numerical changes in another. A + 7 was also present in one case with structural aberrations. Other recurrent numerical aberrations were −14 and −18, both found in 2 adenomas with structural karyotypic changes; in addition, one chromosome 14 was lost in one of the tumors with only numerical changes. The chromosome most often involved in structural aberrations was chromosome I. In 6 cases, the rearrangements led to changes in l p, always with loss of material. The breakpoints were at l p32–36. One adenoma had deletion of l p as the only change. Other chromosomes that were involved in changes in more than 2 cases were chromosomes 8, 13, and 17. These rearrangements typically led to gain of 8q and 13q and loss of 17p. The adenomas with structural abnormalities were generally larger and had a higher degree of dysplasia than did the adenomas with numerical changes only or those with a normal karyotype. All adenomas with a tubulovillous or villous architecture had structural rearrangements. Our findings confirm that a subset of colorectal adenomas exists that have only numerical chromosome aberrations. They also support our previous conclusion that loss of material from distal l p is an early event in colorectal tumorigenesis, but that other cytogenetic aberrations follow and typically are present already at the adenomatous stage. The accumulation of chromosome‐level mutational events in adenomas correlates with the pathologic features: the more malignancy‐like the phenotype, the more complex the karyotype. There seems to be no single aberration that distinguishes colorectal adenomas from carcinomas, however. Genes Chromosom Cancer 10:190–196 (1994). © 1994 Wiley‐Liss, Inc.
Numerical chromosome changes in a nasal polyp
Authors: Vanni Roberta , Medda Celestino , Marras Susanna , Gaudio Rosa M. , Faa Gavino 
Published: February 2007

AbstractThe etiology of nasal polyposis is not fully understood. We found numerical chromosome changes in one out of five cytogenetically investigated nasal polyps. The histological picture of this case was characterized by the presence of histiocyte‐like cells, which were absent in the remaining cytogenetically normal polyps. Genes Chromosom Cancer 10:203–206 (1994). © 1994 Wiley‐Liss, Inc.
Complex karyotypic abnormalities in a primary carcinoma of the fallopian tube
Authors: Bardi Georgia , Sukhikh Tatjana , Pandis Nikos , Hølund Berit , Heim Sverre 
Published: February 2007

AbstractShort‐term cultures from a primary carcinoma of the Fallopian tube, a tumor type not characterized before by chromosome banding, were examined cytogenetically. Comlex ahocmosome aberratinss were found in all mitoses, yielding the karyotype 41,XX,del(1)(p34),del(2)(q31),i(8)(q10),‐9, + dic(9;19)(p13;p13), der(12)t(9;12)(p11;q22),‐13,‐16,‐17,‐18,‐19,‐22, +r [61]/84–86,idemx2[15]. Several of the aberrations in the present case are similar to changes found in adenocarcinomas of other organs, including carcinomas of the ovaries and uterus, indicating pathogenetic similarities between Fallopian tube malignancies and the more common gynecologic cancers. Genes Chromosom Cancer 10:207–209 (1994). © 1994 Wiley‐Liss, Inc.
Two distinct deleted regions on the short arm of chromosome I in neuroblastoma
Authors: Schleiermacher Gudrun , Peter Martine , Michon Jean , Hugot Jean‐Pierre , Vielh Philippe , Zucker Jean‐Michel , Magdelénat Henri , Thomas Gilles , Delattre Olivier 
Published: February 2007

AbstractThe short arm of chromosome Ip is the most frequently altered chromosome segment in neuroblastoma. The alterations, mainly deletions, are thought to be indicative of the presence of a tumor suppressor gene. To further refine the chromosome localization of this gene, we have studied paired constitutional and tumor DNA from a series of 60 patients with neuroblastoma at 2 minisatellite and 23 microsatellite loci dispersed along the short arm of chromosome I. Twenty‐two cases (37%) demonstrated loss of heterozygosity (LOH) at one or more loci on 1p. Surprisingly, the pattern of LOH enabled the identification of two distinct consensus regions of deletions. In agreement with previous reports, one region mapped to the distal short arm of chromosome 1. The other region was localized more proximally on 1p. Deletions observed in tumors involve either one or both of these regions. We show that the correlation between NMYC amplification and 1p deletion is limited to the deletions which involve the proximal region either alone or together with the distal region. These results suggest that two tumor suppressor genes on lp might be involved in the development of neuroblastoma. Finally, we show that somatic mutations at microsatellite loci, frequently observed in other types of cancer, are rare events in neuroblastoma. Genes Chromosom Cancer 10:275–281 (1994). © 1994 Wiley‐Liss, Inc.
Common region of deletion on the long arm of chromosome 6 in non‐Hodgkin's lymphoma and acute lymphoblastic leukaemia
Authors: Menasce Lia P. , Orphanos Vassilis , Santibanez‐Koref Mauro , Boyle John M. , Harrison Christine J. 
Published: February 2007

AbstractWe have used fluorescence in situ hybridisation (FISH) with a series of yeast artificial chromosome (YAC) clones that map to the long arm of chromosome 6 (6q) to define the region(s) of deletion in seven cases of non‐Hodgkin's lymphoma (NHL), in which a deletion of 6q had been detected by conventional cytogenetics. The FISH analysis detected two regions of deletion: (i) A proximal region flanked by M6PI (6q 14–15) and FYN (6q21), containing D6S246, which was missing in all seven cases. This locus was also found to be deleted in all six cases of acute lymphoblastic leukaemia (ALL) studied previously, (ii) A second region of 6q, which was distal to 6q23.1 (D6S238) and included ESR (6q25.l) and D6S281 (6q27), which was shown to be present in all our cases of ALL, was found to be deleted in 4 of the 7 cases of NHL. Our results support the suggestion that tumour suppressor genes, involved in the pathogenesis of lymphoid malignancies, may be present within these regions. Genes Chromosom Cancer 10:286–288 (1994). © 1994 Wiley‐Liss, Inc.
Allelotype of head and neck paragangliomas: Allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL
Authors: Devilee Peter , Van Schothorst Evert M. , Bardoel Alfons F. J. , Bonsing Bert , Kulpers‐Dijkshoorn Nel , James Michael R. , Fleuren Gertjan , Van Mey Andel G. L. Der , Cornelisse Cees J. 
Published: February 2007

AbstractParangliomas of the head and neck region are usually slow growing, benign tumors. A considerable fraction has a positive family history, and the predisposing locus, PGL, has recently been assigned to 11q22‐q23. The inheritance pattern of the disease suggests that PGL undergoes maternal genomic imprinting. We have investigated 26 tumor samples from 22 patients with head and neck paragangliomas for the occurrence of loss of heterozygosity (LOH) on all non‐acrocentric autosome arms. LOH was found only on chromosome 11, with a marked clustering on the distal half of the q‐arm. However, in many cases the resulting allelic imbalance relative to normal DNA was weak, suggesting that only part of the tumor showed this abnormality. In all eight cases where we were able to determine the parental origin, the allele undergoing loss was maternally derived. Clonality analysis with a polymorphic marker for the X‐chromosome indicated that two of three informative female cases were polyclonal, although a number of tumors carry aneuploid stemlines in DNA flow cytometry. We conclude that either tumor heterogeneity or polyclonality may explain the partial allele loss events seen in certain cases.