bluuebunny/crossref_metadata_2025_split huggingface dataset:
Recurrent abnormalities of chromosome bands 10q23–25 in non‐Hodgkin's lymphoma
Authors: Speaks Susan L. , Sanger Warren G. , Masih Aneal S. , Harrington Douglas S. , Hess Michelle , Armitage James O. 
Published: February 2007

AbstractMany nonrandom chromosome abnormalities have been associated with non‐Hodgkin's lymphomas (NHL). Some of these are nonspecific changes seen in many different histologic subtypes. We describe a series of abnormalities of chromosome bands 10q23–25 seen in 159 consecutive NHL patients with abnormal cytogenetic findings. The proportion of karyotypes with abnormalities of 10q varied from 3% among the immunoblastic lymphomas to 67% in the diffuse large cleaved cell lymphomas. Seventeen (10.7%) had abnormalities of 10q23–25. All but one of these were B‐cell tumors. The abnormalities consisted of six deletions and 11 translocations. Sixteen of the 17 patients had the 10q abnormality when cells were first karyotyped. The remaining patient acquired the 10q abnormality in the third of a series of biopsies. In the follicular histologic subtypes [follicular small cleaved cell (FSC), follicular mixed small cleaved and large cell (FM), and follicular large cell noncleaved (FL‐NC)], abnormalities of 10q were found in nine patients, all in association with abnormalities of 14q32. Seven of these were associated with the t(14;18)(q32;q21). Overall, 10q23–25 abnormalities were observed in 11.9% (8/67) of low‐grade [small lymphocytic (SL), FSC, and FM] lymphoma cases. DNA was available from five patients with abnormalities of 10q and was probed for rearrangements with the HOX11 (TCL3) oncogene probe. As expected, we did not find such rearrangements in these five patients with B‐cell tumors. Abnormalities of 10q23–25 have been reported previously in NHL but not at this frequency.
Molecular cloning and analysis of chromosome band 11q23 involved in leukaemia‐associated translocations
Authors: Das Soma , Kearney Lyndal , Bower Mark , Chaplin Tracy , Riley John H. , Anand Rakesh , Young Bryan D. 
Published: February 2007

AbstractThree overlapping yeast artificial chromosomes (YACs) spanning a 780 kb region of DNA around the CD3 locus on chromosome 11 have been isolated and characterised. The individual cloned regions have been mapped by in situ hybridisation to chromosome band 11 q23, and a restriction enzyme map of this region has been constructed. The positions of these clones in relation to a series of leukaemia‐associated chromosomal translocations has also been determined. It was concluded that, although two clones lay entirely proximal to the breakpoints examined, the third clone (13HH4) encompassed the breakpoints for the translocations t(4;11), t(6;11), and t(9;11). The t(9;11) was observed in an acute myeloid leukaemia in a patient previously treated for an unrelated malignancy. It would thus appear that the breakpoints at chromosome band 11q23 occurring in therapy‐related leukaemias are in the same region as those found in adult and childhood acute leukaemias and may result from a common underlying mechanism.
Clonal 6p21 rearrangement is restricted to the mesenchymal component of an endometrial polyp
Authors: Fletcher Jonathan A. , Pinkus Jack L. , Lage Janice M. , Morton Cynthia C. , Pinkus Geraldine S. 
Published: February 2007

AbstractPrevious cytogenetic analyses revealed t(6;20)(p21;q 13) in two endometrial polyps. We karyotyped a large endometrial polyp in which 19 of 25 metaphase cells contained a t(1;6;4)(q21;p21;q 13). Subsequent combined immunohistochernical/cytogenetic analysis showed all aberrant metaphase cells to be of mesenchymal derivation, whereas epithelial cells from the polyp were diploid. These studies indicate that rearrangement of chromosome band 6p21 is a characteristic cytogenetic aberration in the stromal component of endometrial polyps.
Molecular analysis of a new translocation, t(X;I4)(q28;qII), in premalignancy and in leukaemia associated with ataxia telangiectasia
Authors: Thick J. , Sherrington P. D. , Fisch P. , Taylor A. M. R. , Rabbitts T. H. 
Published: February 2007

AbstractThe disease ataxia telangiectasia (A‐T) is a multifaceted disorder in which patients have an increased chance of developing a T‐cell leukaemia, often with abnormalities of chromosome 14, but sometimes with rare translocations, like t(X; 14)(q28;q11). We describe the cloning of the breakpoint of one such novel t(X;14) from an A‐T patient. The translocation breaks within the T cell receptor α chain gene on chromosome 14 at band q11 and in a region of the X chromosome, within about 1 Mb of the telomere of the long arm. The patient subsequently developed T‐cell prolymphocytic leukaemia (T‐PLL), and molecular examination showed that the tumour cells carried the same t(X; 14) breakpoint as that cloned from the premalignant cells. The same breakpoint could be detected in blood samples taken as much as 5 years prior to diagnosis of T‐PLL. This suggests a role for the abnormality in the tumour development in this patient but implies that other mutational events were necessary for overt disease to become manifest. © 1992 Wiley‐Liss, Inc.
Recurring chromosome abnormalities in Hodgkin's disease
Authors: Döhner Hartmut , Bloomfield Clara D. , Frizzera Glauco , Frestedt Joy , Arthur Diane C. 
Published: February 2007

AbstractCytogenetic analysis was performed on lymph nodes or other tumor masses from 33 patients with Hodgkin's disease. Metaphase cells were obtained in 25 of the 33 cases. Analyzable abnormal clones were found in nine cases. Characteristic abnormalities included polyploidy and complex structural rearrangements nonrandomly involving certain chromosomal regions. Chromosomes most commonly gained were 2, 9, 11, 19, and 20, and those most often lost were 10, 13, 15, 16, 21, and Y. Translocation breakpoints clustered in bands 1p11–1p13, 1p36, 4q35, 14q11, and 15p11. In five patients, breakpoints were in bands to which T‐cell receptor genes have been mapped. No specific, recurring translocation was identified. There was, however, recurring loss of chromosomal material from 1q, 4q, 6q, and 17p. Loss or deletions of chromosomes 4 and 6 were found in five and six patients, respectively. Deletions overlapped; the smallest overlapping segments included bands 4q25–4q27 and 6q21 ‐6q23. The data suggest that loss of specific chromosomal regions may be important in the pathogenesis of Hodgkin's disease. With respect to tumor specificity, deletions of 4q are of particular interest because these have not been previously reported to occur nonrandomly in other human malignancies. © 1992 Wiley‐Liss, Inc.
Loss of heterozygosity on the long arm of chromosome 22 in pheochromocytoma
Authors: Tanaka Norifumi , Nishisho Isamu , Yamamoto Masayuki , Miya Akihiro , Shin Eisei , Karakawa Katsu , Fujita Shoichi , Kobayashi Tetsuro , Rouleau Guy A. , Mori Takesada , Takai Shin‐Ichiro 
Published: February 2007

AbstractTo identify the putative common deleted region on the long arm of chromosome 22 in pheochromocytoma, restriction fragment length polymorphism analysis was performed in 17 pheochromocytomas. All cases were heterozygous for at least one of the eight marker loci on 22q. Loss of heterozygosity (LOH) was observed in nine pheochromocytomas, of which eight were hereditary and one nonhereditary. Three pheochromocytomas had interstitial deletions that enabled us to localize the commonly deleted region as distal to D22S10 and proximal to D22S22. Hereditary pheochromocytoma frequently occurs in association with medullary thyroid carcinoma (MTC). Therefore, we also studied allelic loss on 22q in 23 hereditary MTCs. Only one of the MTCs showed LOH on 22q. Recent studies have mapped tumor suppressor loci associated with meningioma and neurofibromatosis type 2 (NF2) to 22q. The commonly deleted region in pheochromocytoma found by us encompasses the regions to which tumor suppressor genes associated with NF2 and meningioma have been mapped. The exact role of the pheochromocytoma tumor suppressor gene on 22q and its relationship to the suppressor genes involved in NF2 and meningioma remain unknown. © 1992 Wiley‐Liss, Inc.
Detection of 1p36 deletions in paraffin sections of neuroblastoma tissues
Authors: Stock Cornelia , Ambros Inge M. , Mann Georg , Gadner Helmut , Amann Gabriele , Ambros Peter F. 
Published: February 2007

AbstractNonradioactive in situ hybridization (NISH) on sections of paraffin‐embedded neuroblastoma tissue was performed to evaluate numerical and structural aberrations of chromosome 1. Two biotinylated probes specific for the heterochromatic (D1Z1) and subtelomeric regions of chromosome 1 (D1S32) were used to study normal tissue and 4 neuroblastoma samples with and without 1p36 deletions. The NISH findings in 3 of the 4 neuroblastomas correlated well with the results obtained by cytogenetic banding analysis. In 1 tumor sample, however, a deletion at 1p36 was observed by NISH, both on metaphase spreads and interphase nuclei, but not by cytogenetics. The NISH method is therefore advantageous when only paraffin‐embedded material is available and can be even more sensitive than conventional cytogenetic analyses under certain conditions. Moreover, the technique provides morphological information that cannot be obtained by methods relying on tissue extracts or cell suspensions. © 1993 Wiley‐Liss, Inc.
Molecular analysis of a variant 18;22 translocation in a case of lymphocytic lymphoma
Authors: Seité Paule , Leroux Dominique , Hillion Josette , Monteil Michèle , Berger Roland , Mathieu‐Mahul Danièle , Larsen Christian‐Jacques 
Published: February 2007

AbstractWe previously reported a 5′ rearrangement of the BCL2 locus in a t(18;22) variant translocation found in a lymphocytic lymphoma. Primary structure analysis of both rearranged chromosomes confirmed the localization of the breakpoint in the so‐called vcr region (for variant cluster region) that encompasses Z‐DNA stretches 5′ of the BCL2 locus, and in between Jλ1 and Cλ1 segments on the IGL locus. A 1,027 nucleotide segment from chromosome 22 was repeated on both derivative chromosomes 18q + and 22q ‐. This segment contained an octanucleotide that was also present in the normal chromosome 18 close to the breakpoint. As a consequence of the translocation, a normal‐sized BCL2 transcript was overexpressed in tumor cells. © 1993 Wiley‐Liss, Inc.
Deletion 9p22‐pter and loss of Y as primary chromosome abnormalities in a squamous cell carcinoma of the vocal cord
Authors: Worsham Maria J. , Benninger Michael J. , Zarbo Richard J. , Carey Thomas E. , Van Dyke Daniel L. 
Published: February 2007

AbstractLoss of distal 9p is a common genetic alteration in squamous cell carcinoma of the head and neck. A vocal cord lesion incorporating a carcinoma‐in‐situ and a focus of invasive carcinoma revealed loss of the Y chromosome and a 9p22 rearrangement with loss of 9p22‐pter. Loss of 9p22‐pter appears to be a primary autosomal abnormality in this squamous cell carcinoma. © 1993 Wiley‐Liss, Inc.
Rearrangement of band q13 on both chromosomes 12 in a periosteal chondroma
Authors: Mandahl Nils , Willén Helena , Rydholm Anders , Heim Sverre , Mitelman Felix 
Published: February 2007

AbstractCytogenetic analysis of a recurrent periosteal chondroma revealed nonreciprocal translocations of both chromosomal segments 12q13→qter, from one chromosome 12 to 7q32 and from the homologous chromosome 12 to 16q22. The remaining parts of the two chromosomes 12 formed a dicentric chromosome. This is the second reported chondroma with a 12q13‐15 rearrangement, and changes of this chromosome region consequently seem to be nonrandom occurrences in chondromas. © 1993 Wiley‐Liss, Inc.
Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2
Authors: Mulligan Lois M. , Gardner Emily , Smith Barbara A. , Mathew Chris G. P. , Ponder Bruce A. J. 
Published: February 2007

AbstractMultiple endocrine neoplasia type 2 (MEN 2) is a familial cancer syndrome arising from mutation at a locus or loci in chromosome region 10p11.2‐q11.2. The disease is characterized by medullary thyroid carcinoma (MTC) and pheochromocytoma (Pheo). To assess the genetic events in tumour initiation and progression in this disease, we have compiled an allelotype for MTC and Pheo tumours using polymorphic marker loci from each chromosome arm. Using a panel of 58 tumours, we found frequent allele losses on chromosome arms 1p (42%), 3p (30%), 3q (38%), 11p (11%), 13q (10%), 17p (8%), and 22q (29%). Loss of heterozygosity (LOH) for loci on chromosome 10 was detected in a single tumour where one whole chromosome copy was lost. We used a panel of polymorphic markers for each of chromosomes 1, 3, 11, and 17 to define a shortest region of overlap for these regions. The most frequent allele losses were on chromosome 1, spanning the entire short arm of the chromosome but not loci on 1q. LOH on chromosome 3 encompassed a minimal common region of 3q12‐qter. The regions of allelic deletion on chromosome 11(11pter‐p13), 17(17pter‐p11.2), and 13 (13q) encompass known tumour suppressor loci (WTI, TP53, RBI) which must therefore be candidates for genes contributing to MTC and Pheo development. Our data suggest allele loss on chromosome 11, 13, or 17 occurs predominantly in tumours with losses on chromosome 3, potentially reflecting the accumulation of genetic change in tumour progression. These events may be associated with more advanced disease in MTC. We suggest that at least 7 genes contribute to tumour development in MEN 2, including an initiating locus on chromosome 10 and loci on chromosomes 1, 3, 11, 13, 17, and 22 which have a progressional role in these tumours. © 1993 Wiley‐Liss, Inc.
Chromosome aberrations in tenosynovial giant cell tumors and nontumorous synovial tissue
Authors: Mertens Fredrik , Örndal Charlotte , Mandahl Nils , Heim Sverre , Bauer Henrik F. C. , Rydholm Anders , Tufvesson Arne , Willén Helena , Mitelman Felix 
Published: February 2007

AbstractFive tenosynovial giant cell tumors—4 pigmented villonodular synovitis (PVNS) and 1 nodular tenosynovitis (NTS)—were investigated cytogenetically. Clonal chromosome aberrations were detected in 3 of them. One PVNS had t(7;16)(q22;q24) as the sole anomaly, whereas 1 PVNS and the NTS displayed aberrations suggesting clonal evolution: t(1;19)(p11;p12)/t(1;19), + 12 and ins(5;1)(q31;p13p34)/ins(5;1),t(2;4)(p23;q21), respectively. Including our 3 cases, a total of 6 tenosynovial giant cell tumors with karyotypic changes have been reported. Apart from 2 PVNS with trisomies 5 and 7, and 2 NTS with rearrangement of chromosome band 1p13, no recurrent chromosome change has been detected. Although the detection of clonal, acquired chromosome abnormalities has formerly generally been accepted as sufficient to conclude that a lesion is neoplastic, the interpretation of the pathogenetic significance of the karyotypic aberrations in synovial tumors is obscured by the fact that we have also detected comparable aberrations in obviously nonneoplastic synovial tissue. One of 2 lesions from patients with hemorrhagic synovitis carried a clonal del(13)(q12q21), and 2 of 4 synovectomy samples from patients with rheumatoid arthritis displayed –Y and –Y together with +7. The available cytogenetic data therefore cannot be used to resolve the controversy as to whether tenosynovial giant cell tumors are truly neoplastic or only reactive, inflammatory proliferations. © 1993 Wiley‐Liss, Inc.
Chromosome 12‐containing markers, including two dicentrics, in three i(12p)‐negative testicular germ cell tumors
Authors: Atkin Niels B. , Fox Margaret F. , Baker Marion C. , Jackson Zoè 
Published: February 2007

AbstractA chromosome 12‐derived marker was seen in each of 3 testicular germ cell tumors that lacked the i(12p). An interesting feature of 2 of the markers was that the major part, including the centromere, of an acrocentric (a #13 and #14, respectively) was translocated onto 12p, resulting in a dicentric. In the third tumor, 13q (translocated onto 12q) was again probably involved in the rearrangement. The findings support the view that the amplification of genes on 12p represents a significant step in the development of germ cell tumors. © 1993 Wiley‐Liss, Inc.
Epithelial‐mesenchymal transitions during cell culture of primary thyroid tumors?
Authors: Herrmann Marille E. , Trevor Katrina T. 
Published: February 2007

AbstractFibroblast contamination of epithelial tumor cell cultures is of great concern when examining tumor cells in vitro for specific biochemical and cytogenetic changes. The observations of normal karyotypes in thyroid tumor cell cultures have raised the concern of whether residual tissue fibroblasts might obscure the cytogenetic analysis of transformed epithelial cells. We have characterized early passaged thyroid tumor cells to examine the proportions of epithelial and fibroblastic cell types. Cells were analyzed by immunocytology using antibodies recognizing the thyroid prohormone thyroglobulin, epithelial cytokeratins, and vimentin, a mesenchyme marker. Tumors consisted of one follicular adenoma and five papillary carcinomas. When examined by day 15 in culture, all cells contained filaments composed of vimentin, which most likely represents an adaptation to culture conditions. Double immunofluorescence staining for thyroglobulin and cytokeratin revealed the presence of not only epithelial but also spindle‐like fibroblastoid cells possessing thyroid epithelial cell markers. The results suggest that in thyroid tumor cultures there is a unique cell type intermediate between epithelial and mesenchyme phenotypes that must be considered when performing cytogenetic analysis. © 1993 Wiley‐Liss, Inc.
Clusters of chromosome 9 aberrations are associated with clinico‐pathologic subsets of non‐Hodgkin's lymphoma
Authors: Offit Kenneth , Parsa Nasser Z. , Jhanwar Suresh C. , Filippa Daniel , Wachtel Mitchell , Chaganti R. S. K. 
Published: February 2007

AbstractIn this study we analyzed nonrandom aberrations affecting chromosome 9 in a series of 426 consecutively ascertained, karyotypically abnormal non‐Hodgkin's lymphoma (NHL) tumors derived from 407 patients. Cytogenetic abnormalities were correlated with clinical, histologic, and immunologic features. Structural abnormalities of chromosome 9 were identified in 60 specimens derived from 59 patients. The recurring abnormalities among these were associated with 4 clinico‐pathologic subsets. The first comprised 7 cases of t(9;14)(p13;q32), 6 of which had small lymphocytic lymphoma, plasmacytoid subtype, and an indolent clinical course. The second group included 12 cases with breaks at 9q11–13 and diffuse lymphomas with a large‐cell component and a typical response to combination chemotherapy. The third group was comprised of 7 cases with 9q deletions, with a common deleted region encompassing 9q31–32. These cases were characterized by diffuse B‐cell histology, young age, and poor clinical outcome. The fourth subset included 5 intermediate‐ to high‐grade T‐cell tumors with breaks at 9q34. This analysis of chromosome 9 aberrations in NHL comprises the first such effort based on a large series of tumors. We identify and report here new clinico‐pathologic subsets with shared abnormalities of chromosome 9, which should facilitate new approaches to the analysis of the etiology and clinical behavior of NHL. © 1993 Wiley‐Liss, Inc.
Two‐color FISH characterization of i(1q) and der(1;16) in human breast cancer cells
Authors: Kokalj‐Vokac Nadja , Alemeida Anna , Gerbault‐Seureau Michèle , Malfoy Bernard , Dutrillaux Bernard 
Published: February 2007

AbstractTwo‐color fluorescent in situ hybridizations using probes for alphoid (α) and classical satellite (CS) DNAs from chromosomes 1 and 16 were performed to characterize i(1q), der(1;16), and complex rearrangements observed in breast cancer cells from fresh tumors and established cell lines. Six of seven i(1q) occurred after breakage in the α1 containing region and one of seven was dicentric, with breakage in 1p11.2. The five der(1;16)(q10;p10) studied appeared to result from a variety of breakpoints involving α1, α16, CS1, and CS16 DNAs. All had conserved α16 DNA, suggesting a segregation of the der(1;16) leading to a loss of 16q and a gain of 1q in most cases. One complex rearrangement of chromosome 1 also appeared to involve chromosome 16, suggesting that a der(1;16) occurred first, followed by another rearrangement. Both the apparent preferential involvement of constitutive heterochromatin harboring α and CS DNAs and the variety of breakpoints spanning along heterochromatin suggest that the important consequence of the rearrangement is not the breakage per se but the resulting imbalance. © 1993 Wiley‐Liss, Inc.
Molecular deletion of 9p sequences in non‐small cell lung cancer and malignant mesothelioma
Authors: Center Rob , Lukeis Robyn , Dietzsch Erin , Gillespie Matthew , Garson O. Margaret 
Published: February 2007

AbstractPreviously we have reported non‐random cytogenetic abnormalities involving the short arm of chromosome 9 (9p) in the majority of primary non‐small cell lung cancer (NSCLC) patient samples, which indicated loss of DNA sequences. In another lung tumor, pleural malignant mesothelioma (MM), cytogenetic changes also include apparent deletions of 9p. To define the location and extent of deletions of 9p in NSCLC and MM, Southern blot analyses on six NSCLC and five MM cell lines using molecular probes to 9p loci (IFNA, IFNBI, D9S3, and D9S19) were performed, and DNA dosage was determined by densitometry. Our data demonstrated reduced dosage of 9p sequences in three of six NSCLC and four of five MM lines. A homozygous deletion of D9S3 was found in one NSCLC and one MM cell line. The region of common loss overlapped the D9S3 locus and was flanked by the IFNBI and D9S19 loci. IFNBI has previously been localized to 9p22, and the D9S3 and D9S19 loci have been mapped in this study by in situ hybridization to 9p21 and 9p13, respectively. We hypothesize the existence of one or more tumor suppressor genes on 9p with a role in the development or progression of NSCLC and MM. © 1993 Wiley‐Liss, Inc.
Amplification of the 11q13 region in human carcinoma cell lines: A mechanistic view
Authors: Roelofs Helene , Schuuring Ed , Wiegant Joop , Michalides Rob , Giphart‐Gassler Micheline 
Published: February 2007

AbstractWe previously proposed that a local duplication, not the loss of the subsequently amplified marker from its original site, might be the first step in gene amplification in human cells. It is important to investigate this issue in naturally occurring amplification and when copy numbers are relatively low. We have examined the location of single‐copy and amplified 11q13 sequences in cell lines from human breast cancers and squamous cell carcinomas using fluorescence in situ hybridization both with a probe specific for the 11q13 amplifying region and with a chromosome 11‐specific library. We show that in most cell lines the 11q13 amplicons are physically linked to chromosome 11 or to a chromosome derived from chromosome 11 by various rearrangements near the 11q13 region. In none of the cell lines were interstitial deletions of 11q13 detected. These results indicate that 11q13 amplification in human tumor cells generally does not involve deletion as the initial step. One cell line with chromosomally located amplified 11q13 sequences contained double minutes that harbored the MYC gene but no 11q13 sequences. This suggests that the genetic outcome and the mechanism of gene amplification are probably dependent on specific DNA sequences rather than on the origin of the cells. © 1993 Wiley‐Liss, Inc.