bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular characterization of chromosome 22 deletions in schwannomas
Authors: Bijlsma Emilia K. , Brouwer‐Mladin Roma , Bosch D. Andries , Westerveld Andries , Hulsebos Theo J. M. 
Published: February 2007

AbstractSchwannomas are tumors of the cranial, spinal, and peripheral nerve sheaths that originate from Schwann cells. Acoustic neurinomas are the most frequent cranial schwannomas. They might develop sporadically or in the context of neurofibromatosis type 2 (NF2). Loss of part or all of chromosome 22 is frequently found in acoustic schwannomas, suggesting that the NF2 gene is a tumor suppressor gene involved in the genesis of these tumors. Only a few spinal schwannomas have been molecularly characterized so far, showing that chromosome 22 loss might also occur in these tumors. Here we present the molecular analysis of chromosome 22 in 23 acoustic schwannomas and nine schwannomas of other locations (including other cranial nerves and spinal and peripheral nerves). Most of these tumors were from sporadic cases. Multiple schwannomas of various locations were analyzed in two patients with NF2. We found partial or complete monosomy for chromosome 22 in 22% of the acoustic schwannomas and 55% of the non‐acoustic schwannomas. The tumors with partial monosomy included four with terminal deletions and one with a deletion of the centromeric part of the long arm of chromosome 22. The region between the βB2‐1 crystallin locus (CRYB2A) and the myoglobin locus (MB) was commonly deleted in these tumors. Our studies suggest that a schwannoma‐related tumor suppressor gene within this region, which might be the NF2 gene, is involved in the development of schwannomas of various locations in the nervous system. Our studies indicate that the second hit in the genesis of different schwannomas within one (predisposed) NF2 patient occurs independently and via different mechanisms.
Characterization of the translocation breakpoint sequences of two DEK‐CAN fusion genes present in t(6;9) acute myeloid leukemia and a SET‐CAN fusion gene found in a case of acute undifferentiated leukemia
Authors: Von Lindern Marieke , Breems Dimitri , Van Baal Sjozèf , Adriaansen Henk , Grosveld Gerard 
Published: February 2007

AbstractThe t(6;9) associated with a subtype of acute myeloid leukemia (AML) was shown to generate a fusion between the 3′ part of the CAN gene on chromosome 9 and the 5′ part of the DEK gene on chromosome 6. The same part of the CAN gene appeared to be involved in a case of acute undifferentiated leukemia (AUL) as well, where it was fused to the SET gene. Genomic sequences around the translocation breakpoint were determined in two t(6;9) samples and in the case of the SET‐CAN fusion. Although coexpression of myeloid markers and terminal deoxynucleotidyl transferase was shown to be one of the characteristics of t(6;9) AML, no addition of random nucleotides at the translocation breakpoint could be found. In addition, the breakpoint regions did not reveal heptamer‐nonamer sequences, purine‐pyrimidine tracts, a chi‐octamer motif, or Alu repeats. The sequence in which the translocation breakpoints occurred was enriched in A/T. Notably, the specific introns in which clustering of breakpoints occurs in DEK and CAN both contain a LINE‐1 element. As LINE‐1 elements occur with a moderate frequency in the human genome, the presence of such an element in both breakpoint regions may be more than coincidental and may play a role in the translocation process.
The der(II) chromosome contains the critical breakpoint junction in the 4;11, 9;11, and 11;19 translocations in acute leukemia
Authors: Rowley Janet D. 
Published: February 2007

AbstractTranslocations involving 11q23 are recurring abnormalities in human acute leukemia cells of either lymphoid or myeloid lineage. Analysis of 13 variant translocations associated with four of these [t(4; 11), t(6; 11), t(9; 11) and t(11; 19)] reveals that the der(11) chromosome is conserved in all of them and therefore contains the critical genetic rearrangement. The MLL gene (myeloid/ lymphoid leukemia) is involved in each of these translocations. It is transcribed from centromere to telomere. The present analysis indicates that the 5′ region of MLL on the der(11) is juxtaposed to the coding sequences of genes on each of the other translocation partners.
Rearrangement of the transcription factor gene CHOP in myxoid liposarcomas with t(12;16)(q13;p11)
Authors: Åman Pierre , Ron David , Mandahl Nils , Fioretos Thoas , Heim Sverre , Arheden Kristina , Willén Helena , Rydholm Anders , Mitelman Felix 
Published: February 2007

AbstractMost myxoid liposarcomas (MLS) are characterized cytogenetically by a t(12; 16)(q13;p11). It is reasonable to assume that this translocation corresponds to the consistent rearrangement of one or two genes in 12q 13 and/or 16p11, and that the loci thus affected are important in the normal control of fat cell differentiation and proliferation. We have used Southern blot technique to test whether a gene of the CCAAT/enhancer binding protein (C/EBP) family, CHOP, which maps to 12q13 and is assumed to be involved in adipocyte differentiation, could be the 12q gene in question. Using a cDNA probe that spans the CHOP coding region, we detected one rearranged and one wild type allele in nine of nine MLS with t(l2;l6). Using PCR generated, site‐specific probes corresponding to the non‐coding exons 1 and 2 and intron 2 of CHOP, rearrangements in five of seven tumors mapped to the 2.4 and 1.6 kbp Pstl fragments that contain the first two exons and introns of the gene and the upstream promoter region. In contrast to the findings in MLS, no tumor without a t(12;16) exhibited aberrant CHOP restriction digest patterns. These tumors included one highly differentiated liposarcoma with abnormal karyotype but no involvement of 12q 13, seven lipomas with various cytogenetic aberrations of 12q 13–15, two uterine leiomyomas with t( 12; 14) (q 14–15;q23–24), and one hemangiopericytoma and one chondroma, both of which also had 12q 13 changes. These findings demonstrate that the 12q breakpoint of the t( 12;16) in MLS differs from those in the other tumors investigated, even in cases with no cytogenetically visible differences in breakpoint position, that CHOP rearrangement is specific for MLS, and that the breakpoints cluster to the 5′ region of the gene. We assume that the CHOP alteration is an important step in MLS tumorigenesis and speculate that this is achieved by interference with the normal function of the C/EBP family of transcription factors.
Tumor‐associated karyotypic lesions coselected with in vitro macrophage differentiation
Authors: Alexander Bruce , Berger Roland , Day Lesley M. , Hogarth P. Mark , Feneziani Anthony , Cook Wendy D. 
Published: February 2007

AbstractSeveral cytogenetic lesions in chromosomes 2, 5, 12, and 16 have been repeatedly coselected with in vitro macrophage differentiation in a clonal murine thymic tumor cell line. Parental‐type subclones, which show an extremely immature hemopoietic phenotype, do not carry the aberrations. The frequency of the stable differentiated variants is elevated by 5‐azacytidine and bromodeoxyuridine, consistent with chromosome breakage being responsible for the phenotype. The frequency is also raised by dexamethasone. Since variants are 300–3,000‐fold more resistant to dexamethasone than parental clones, we interpret this to be largely due to selection. Three of the lesions, on chromosome 2, match those previously described as associated specifically with in vivo‐generated murine myeloid tumors, induced by X irradiation and corticosteroid treatment. Several implications follow from these observations. (I) In vitro differentiation in clonal tumor cell lines can be used to select for tumor‐associated lesions. This should allow genetic and molecular analysis of the chromosome 2 lesions and of others that may pinpoint genes critical to macrophage differentiation and transformation. (2) Myeloid and lymphoid tumors that occur in response to X irradiation may diverge from a common initiating tumor. (3) The hemopoietic lineage switch phenomenon, previously described by several authors, may be caused by similar or identical chromosome aberrations.
Correlation of cytogenetic analysis and loss of heterozygosity studies in human diffuse astrocytomas and mixed oligo‐astrocytomas
Authors: Ransom David T. , Ritland Steven R. , Moertel Cheryl A. , Dahl Richard J. , O'Fallon Judith R. , Scheithauer Bernd W. , Kimmel David W. , Kelly Patrick J. , Olopade O. I. , Diaz Manuel O. , Jenkins Robert B. 
Published: February 2007

AbstractThe aims of this study were to correlate cytogenetic studies and molecular genetic loss of heterozygosity (LOH) analyses in human astrocytomas and mixed oligo‐astrocytomas, and to locate putative tumor suppressor genes on chromosome 10. Paired blood and tumor samples from 53 patients were analyzed. The tumors included 45 diffuse astrocytomas (39 grade 4, 4 grade 3, and 2 grade 2), 1 astroblastoma, and 7 mixed oligo‐astrocytomas (2 grade 4,4 grade 3, and 1 grade 2). By cytogenetic analyses the most common numeric chromosome abnormalities were +7, −10, −13, −14, −17, +19, −22, and −Y. The most common structural abnormalities involved chromosome arms 1p, 1q, 5p, and 9p. By LOH and dosage analysis the most common molecular genetic abnormalities were of chromosome arms 5p, 6p, 7q, 9p, 10p, 10q, 13q, 14q, 17p, and 19p. When the results of all methods were combined, the most commonly abnormal chromosomes were, in descending frequency, 10, Y, 17, 7, 13, and 9. In 80 percent of cases the cytogenetic and molecular genetic studies were concordant. LOH studies were more sensitive in detecting loss of genetic material than cytogenetic analyses and accounted for 60% of the discordant results. When there were structural abnormalities, such as translocations or inversions, cytogenetic analysis was more sensitive in detecting an abnormality than molecular genetic studies. In addition to the 24 tumors which appeared to lose an entire copy of chromosome 10, there were 10 tumors with molecular genetic or cytogenetic evidence of loss of only a portion of chromosome 10. The genetic analyses of these tumors suggest that there are 2 regions on chromosome 10 that may contain potential tumor suppressor genes. One lies distal to locus D10S22 from 10q22 to 10qter, and the other lies proximal to locus TSTI on the 10q arm near the centromere or on the 10p arm. © 1992 Wiley‐Liss, Inc.
Complementarity of interphase and metaphase chromosome analysis in human renal tumors
Authors: Wolman Sandra R. , Waldman Frederic M. , Balazs Margit 
Published: February 2007

AbstractFluorescence in situ hybridization (FISH) was used as a complement to earlier cytogenetic studies of human renal tumors. Chromosome‐specific para‐centromeric probes were applied to cells disaggregated from tissue blocks of tumors, fresh samples from which had yielded cytogenetic results after short‐term culture. Cells were dissociated from thick sections of paraffin‐embedded, formalin‐fixed tissues. Biotin‐labeled probes specific for chromosomes 1, 3, 7, 11, 12, 15, 17, and the Y chromosome were applied in individual cases and were detected by fluorescence. Probes for chromosomes 1, 7, and 17 yielded clean signals with disomic control frequencies near 90%, and 97% of controls showed a single bright spot for the Y chromosome. The 9 cases selected all provided ample numbers of dissociated cells which were hybridized successfully, although some chromosomal signals were poor in individual cases. Abnormal copy numbers of chromosomes 1 and/or 17, not identified in culture, were observed in 7 cases. Trisomy 7 observed in culture was substantiated by FISH on the original tissues, as was loss of the Y, in each of 4 cases, respectively. Our results include limited validation of culture cytogenetics, evidence of selection in culture of tumor subpopulations, and demonstration that interphase cytogenetics by FISH is applicable to archival tissue blocks after prolonged periods of storage. Conditions of culture before harvest and inherent heterogeneity within tumors permit selection for nonrepresentative subgroups within tumors and emphasize the need for multiple approaches to evaluation. © 1993 Wiley‐Liss, Inc.
Cytogenetic findings in pediatric adipose tumors: Consistent rearrangement of chromosome 8 in lipoblastoma
Authors: Fletcher Jonathan A. , Kozakewich Harry P. , Schoenberg Marlena L. , Morton Cynthia C. 
Published: February 2007

AbstractCharacteristic cytogenetic aberrations have been reported in adult lipomas and liposarcomas, but few karyotypes have been reported for pediatric adipose neoplasms. In this report we describe a consistent rearrangement, der(8)(pter→q13::q24.1→qter), in 2 of 3 lipoblastomas. A similar der(8) was present in the only other published lipoblastoma karyotype, but this der(8) has not been reported in lipomas, liposarcomas, or nonadipose solid tumors. We investigated the potential specificity of der(8)(pter→q13::q24.1→qter) by karyotyping an unselected series of nonlipoblastoma adipose tumors in children and young adults. The series included 14 lipomas, 2 atypical lipomas (“well‐differentiated liposarcomas”), and 2 angiomyolipomas; der(8) was not found in any tumor from this series. Three lipomas, however, contained rearrangements in the region of chromosome band 12q14, as has been described frequently in adult lipomas. Because clinical features in lipoblastoma can mimic those in liposarcoma, recognition of der(8)(pter→q13::q24.1→qter) is of potential diagnostic relevance. © 1993 Wiley‐Liss, Inc.
11q deletions in human colorectal carcinomas: Cytogenetics and restriction fragment length polymorphism analysis
Authors: Keldysh Peter L. , Dragani Tommaso A. , Fleischman Elena W. , Konstantinova Liliya N. , Perevoschikov Alexander G. , Pierotti Marco A. , Porta Giuseppe Della , Kopnin Boris P. 
Published: February 2007

AbstractDeletions and/or allelic losses of a portion of the long arm of chromosome 11 were discovered by cytogenetic and restriction fragment length polymorphism analyses in 23 of 39 (59%) informative cases of colorectal carcinoma. By comparing the patterns of loss of heterozygosity and chromosome rearrangements in different patients, we could map a common target region to 11q22‐23. This region may contain a tumor suppressor gene, the inactivation of which may be involved in the development of tumors of the large intestine. The subgroup of malignancies with 11q alterations seemed to be enriched by tumors that were located in the rectum, that were Dukes' stage A, and that were well differentiated and mucin producing.© 1993 Wiley‐Liss,
Chromosome analysis of 20 breast carcinomas: Cytogenetic multiclonality and karyotypic‐pathologic correlations
Authors: Pandis Nikos , Heim Sverre , Bardi Georgia , Idvall Ingrid , Mandahl Nils , Mitelman Felix 
Published: February 2007

AbstractShort‐term cultures from 20 breast carcinomas were analyzed cytogenetically. A normal female chromosome complement was found in 4 cases. Clonal chromosome aberrations were detected in 16 tumors. In 10 tumors, multiple cytogenetic clones were found; in 2 cancers the clones were related, reflecting clonal evolution, but in the remaining 8 tumors the clones were cytogenetically unrelated, indicating clonal heterogeneity in the origin of the tumor parenchyma. Correlation analysis between karyotypic and pathologic parameters indicated that cases with complex karyotypes and/or cytogenetically unrelated clones, when compared with cases with a single simple karyotypic abnormality, were generally of higher histologic malignancy grade, had more mitoses in the histologic sections, and also more often had carcinoma in situ lesions in the same breast. © 1993 Wiley‐Liss, Inc.
No germline TP53 mutations detected in familial and bilateral testicular cancer
Authors: Heimdal Ketil , Lothe Ragnhild A. , Lystad Sigrid , Holm Ruth , Fosså Sophie D. , Børresen Anne‐Lise 
Published: February 2007

AbstractMutations in the TP53 gene are considered to be among the most common genetic alterations in human cancers. Both somatic and germline mutations have been found. Using potymerase chain reaction (PCR), constant denaturant gel electrophoresis (CDGE), and denaturing gradient gel electrophoresis (DGGE), we have examined 32 patients with bilateral and familial germ cell tumors (GCT) and two patients with sporadic GCT for germline mutations within the conserved regions of the gene. In addition, 15 tumors were screened for somatic mutations and analyzed for loss of heterozygocity (LOH) at the TP53 locus. Twelve tumors were analyzed for expression of TP53 via immunohistochemistry. Neither germline nor somatic TP53 mutations were deteeted. LOH was observed in one of five informative cases. No tumors showed increased expression of TP53 protein. These results indicate that alterations in the TP53 gene are not important for the predisposition to and development of GCT. © 1993 Wiley‐Liss, Inc.
Telomeric associations and loss of telomeric DNA repeats in renal tumors
Authors: Holzmann Karlheinz , Blin Nikolaus , Welter Cornelius , Zang Klaus D. , Seitz Gerhard , Henn Wolfram 
Published: February 2007

AbstractIn a series of cytogenetically analyzed renal tumors of different histological types (chromophobe carcinoma, clear‐cell carcinoma, chromophilic carcinoma, and oncocytoma) and normal renal tissue, the length of the telomeric DNA repeats was assessed using a (TTAGGG)3 oligonucleotide probe. A strong correlation was noted between pronounced telomere shortening and the appearance of telomeric associations of chromosomes. These data suggest an etiologic role of the loss of telomeric DNA repeats in the formation of telomeric associations and a possible involvement of this mechanism in the pathogenesis of chromosome aberrations in human tumors. © 1993 Wiley‐Liss, Inc.
Recombination between separate MYC amplification structures in COLO320 cells
Authors: Vandevanter Donald R. , Yirdaw Getachew 
Published: February 2007

AbstractCytogenetically visible gene amplification structures can consist of arrays of amplicons presumably formed by secondary “rearrangements” following amplicon formation. The structural evolution of gene amplification sites in tumor cells suggests that complex secondary structures may have some selective advantage in the tumor cell environment. Although secondary amplicon rearrangements are a hallmark of the gene amplification process, little is known about the mechanics of this process. COLO320 neuroendocrine tumor cells carry two different types of amplified MYC oncogene sequences, one type with an intact MYC gene and the other with a rearranged “chimeric” MYC gene. We have studied various clonal subpopulations of COLO320 cells and identified regions within and downstream of the MYC locus that are unique to each amplicon type. Using double‐label fluorescence in situ hybridization with DNA probes unique to each amplicon type, we have observed that both chromosomal and extrachromosomal MYC amplicon arrays in COLO320 cells frequently consist of heterogeneous mixtures of each MYC amplicon type. Our results suggest that the two MYC amplicon types of COLO320 cells were formed simultaneously but independently, and that double minute chromosomes observed in COLO320 cells were formed by intermolecular homologous recombination secondary to amplicon formation. © 1993 Wiley‐Liss, Inc.
Clonal chromosome aberrations in neurinomas
Authors: Bello M. Josefa , De Campos José M. , Kusak M. Elena , Vaquero Jesús , Sarasa José L. , Pestaña Angel , Rey Juan A. 
Published: February 2007

AbstractChromosome studies were performed after short‐term in vitro culture of 39 samples from neurinomas and two samples from malignant schwannomas. Clonal abnormalities involving chromosome 22 were observed in 23 cases, as the sole chromosomal deviation in 12 of them. In 11 samples, other clonal numerical and/or structural aberrations were detected in addition to loss of chromosome 22, either in the same cells or in cells other than those having monosomy 22. Within the group of neurinomas with no involvement of chromosome 22, there were again two cytogenetically distinctive subgroups: one with an abnormal karyotype, and the second with a normal chromosome complement. Our findings confirm that monosomy 22 is a characteristic feature of this type of neoplasm, but also suggest the existence of different cytogenetic subgroups of neurinomas. © 1993 Wiley‐Liss, Inc.
Mapping the breakpoint of a constitutional translocation on chromosome 22 in a patient with NF2
Authors: Arai Eiko , Tokino Takashi , Imai Takashi , Inazawa Johji , Ikeuchi Tatsuro , Tonomura Akira , Nakamura Yusuke 
Published: February 2007

AbstractNeurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by development of bilateral acoustic neurinomas and increased incidence of meningiomas. Frequent losses of 1 allele of chromosome 22 in neurinomas and meningiomas has indicated that the gene responsible for NF2 functions as a tumor suppressor. Although the NF2 gene has been mapped within a 13 cM region between D22S1 and D22S28 by linkage analysis, its location with respect to D22S15 is uncertain. We previously reported an NF2 patient with a constitutional balanced translocation t(4;22) (q12;q12.2); the NF2 gene is probably disrupted at the breakpoint. To define the location of this breakpoint on chromosome 22, we performed fluorescence in situ hybridization (FISH) with DNA markers in the NF2 region and determined the physical order of 5 loci: D22S1‐NF2‐LIF‐D22S15‐D22S32. © 1993 Wiley‐Liss, Inc.
Translocation t(12;22)(q13;q12.2–12.3) in a clear cell sarcoma of tendons and aponeuroses
Authors: Mrózek Krzysztof , Karakousis Constantine P. , Perez‐Mesa Carlos , Bloomfield Clara D. 
Published: February 2007

AbstractCytogenetic analysis of a short‐term culture from a clear cell sarcoma revealed a complex karyotype with the mainline of 49,XY,t(7;18)(p11.2;q21.3), + der(7)t(7;18)(p11.2;q21.3), + 8, + der(8;17)(q10;q10),t(12;22)(q13;q12.2–12.3),add(13)(p13). An apparently identical translocation t(12;22) has been described recently in four clear cell sarcomas, indicating that this constitutes a primary cytogenetic change specific for this type of tumor. In our case, the breakpoint on chromosome 22 could be assigned to band 22q12.2 or 22q12.3. Together with the present case, trisomy or tetrasomy 8 has been found in six of nine clear cell sarcomas, suggesting that, as in Ewing's sarcoma and myxoid liposarcoma, trisomy/tetrasomy 8 represents a nonrandom secondary aberration. We conclude that the finding of the specific translocation t(12;22) may prove to be an important marker in the differential diagnosis of clear cell sarcoma from some other soft tissue sarcomas and malignant melanoma. © 1993 Wiley‐Liss, Inc.
t(11;18)(q21;q21) may delineate a spectrum of diffuse small B‐cell lymphoma with extranodal involvement
Authors: Leroux Dominique , Seité Paule , Hillion Josette , le Marc'hadour François , Pégourié‐Bandelier Brigitte , Jacob Marie‐Christine , Larsen Christian‐Jacques , Sotto Jean‐Jacques 
Published: February 2007

AbstractWe describe a patient with stage IV non‐Hodgkin's lymphoma (NHL) and a t(11;18)(q21;q21) translocation. He presented with a gastric small B‐cell lymphocytic lymphoma, expressing IgAL immunoglobulins without expression of CD10, CD5, and CD23 antigens. The lymphoma was the final development of a 6‐year history of a monoclonal IgAL increase complicated by severe renal failure due to membranoproliferative glomerulonephritis. The clinical, histological, immunologic, and cytogenetic features of this patient are very similar to those observed in the five other patients with t(11;18) reported to date. This translocation therefore seems to delineate a new subtype of diffuse small B‐cell lymphoma with involvement of mucosal sites. Involvement of the BCL2 oncogene on 18q21 could not be detected using molecular techniques with 5′ as well as 3′ BCL2 probes, indicating that other, so far unknown, genes relevant to lymphoid differentiation could be located in 18q21 and 11q21. © 1993 Wiley‐Liss, Inc.