bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chromosomal in situ suppression hybridization of immunologically classified mitotic cells in hematologic malignancies
Authors: Tiainen Marianne , Knuutila Sakari , Popp Susanne , Emmerich Patricia , Cremer Thomas , Parlier Valerie , Bellomo Martine Jotterand , Ruutu Tapani 
Published: February 2007

AbstractChromosomal in situ suppression (CISS) hybridization was performed with library DNA from sorted human chromosomes 8, 9, 15, 17, 21, and 22 on immunologically stained bone marrow cells of four patients with a hematologic neoplasm, including two patients with myelodysplastic syndrome and trisomy 8, one patient with promyelocytic leukemia bearing the translocation t(15;17)(q22;q11–12), and one patient with chronic myeloid leukemia and the translocation t(9;22)(q34;q11). In all patients, the results of conventional karyotype analysis could be confirmed by one‐ or two‐color CISS hybridization using the appropriate chromosome‐specific libraries. Our results show that CISS hybridization can detect both numerical and structural chromosome changes in immunologically classified cells with high specificity and reliability. The fact that chromosome spreads of very poor quality can now be included in such analyses is a decisive advantage of this approach. In addition, the suitability of this approach for interphase cytogenetics is discussed.
t(11;18)(q21;q21) is a recurrent chromosome abnormality in small lymphocytic lymphoma
Authors: Griffin Constance A. , Zehnbauer Barbara A. , Ambinder Richard , Beschorner William E. , Mann Risa 
Published: February 2007

AbstractWe have identified two cases of previously untreated, small lymphocytic lymphoma with extranodal involvement, which had a reciprocal translocation, t(11;18)(q21;q21), as the sole cytogenetic abnormality. These two cases are remarkably similar to two previously reported cases carrying this translocation with regard to clinical features, cytogenetic abnormality, histologic subtype, and immunophenotype. Molecular genetic analysis of these two cases revealed clonal gene rearrangement of the IGH locus but only germline configuration of the BCL2 oncogene at 18q21 when probes and conditions that usually identify BCL2 rearrangement in lymphomas were used. Lymphomas bearing an (11;18) rearrangement appear to make up a phenotypically identifiable subgroup. Identification of the genes at the translocation breakpoints will be important.
A synovial sarcoma with t(x;18)(p11;q11) in a patient with turner's syndrome
Authors: Miozzo Monica , Sozzi Gabriella , Cariani Claudia T. , Pierotti Marco A. , Porta Gluseppe Della , Palma Silvana Di , Luksch Roberto , Azzarelli Alberto 
Published: February 2007

AbstractThe first case of synovial sarcoma in a patient with Turner's syndrome (45,X) is reported. Cytogenetic analysis of the tumor cells showed that the only X chromosome was involved in the t(X;18)(p11;q11) characteristic of synovial sarcoma.
The translocation (1;14)(p34;q11) in human t‐cell leukemia: Chromosome breakage 25 kilobase pairs downstream of the tal1 protooncogene
Authors: Xia Ying , Brown Lamorna , Tsan Julia Tsou , Chuan‐Yang Cary Ying , Baer Richard , Siciliano Michael J. , Crist William M. , Carroll Andrew J. 
Published: February 2007

AbstractNearly 30 percent of patients with T‐cell acute lymphoblastic leukemia (T‐ALL) exhibit a tumor‐specific rearrangement of the TAL1 gene (also called TCL5 or SCL). These rearrangements are generated by either local DNA deletion or a (1;14)(p34;q11) chromosome translocation, and they typically result in structural alterations of the TAL1 transcription unit. In this report we present a molecular characterization of the t(1;14)(p34;q11) from a T‐ALL patient. As a consequence of the translocation, TAL1 is transposed from its normal position on chromosome 1 into the T‐cell receptor α/δ chain locus on chromosome 14. Unlike previous cases, the chromosome 1 breakpoint in this patient did not disrupt the continuity of the TAL1 transcription unit, but instead occurred approximately 25 kilobase pairs (kb) downstream of TAL1. This observation suggests that malignant alteration of TAL1 can be mediated by long‐range cis‐activating mechanisms that are triggered by DNA rearrangement at a distant site.
Characterization and molecular analysis of nondisjunction in 18 cases of trisomy 21 and leukemia
Authors: Lorber Briana J. , Freeman Sallie B. , Hassold Terry , Ragab Abdel H. , Vega Roger A. , Cockwell Annette E. , Jacobs Patricia A. , Radford Martin , Doyle John , Dubé Ian D. , Zipursky Alvin 
Published: February 2007

AbstractWe recently began a cytogenetic and molecular study of nondisjunction in leukemic Down syndrome individuals to determine whether the mechanism by which the extra chromosome 21 originates predisposes the individual to leukemia. In the present report, we summarize our observations on 18 patients with trisomy 21 and acute or transient leukemia, including 11 patients with acute lymphocytic leukemia, three with acute myeloid leukemia, one with B‐cell lymphoma, one with acute megakaryoblastic leukemia, and two with transient leukemia. Results of DNA marker studies of the parental origin of the extra chromosome 21 indicated that 16 of the 18 cases (89%) were maternally derived, a percentage similar to that seen among nonleukemic Down syndrome patients. We noted that most leukemic Down syndrome patients had one locus or more in which parental heterozygosity was maintained in the trisomic individual, indicating a meiotic rather than a mitotic origin for the trisomy.
Clonal structural chromosome aberrations in nonneoplastic cells of the skin and upper aerodigestive tract
Authors: Mertens Fredrik , Jin Yuesheng , Heim Sverre , Mandahl Nils , Mitelman Felix , Jonsson Nils , Persson Bertil , Wennerberg Johan , Mertens Ove , Salemark Lars 
Published: February 2007

AbstractCytogenetic analyses of tumors of the skin and upper aerodigestive tract have repeatedly revealed small, pseudodiploid clones characterized by balanced structural rearrangements and a high frequency of cells with nonclonal structural aberrations. However, the lack of common cytogenetic denominators within the different histologic subtypes, the discrepancy between cytogenetic findings and data obtained from flow cytometric DNA content studies, and the occasional identification of tumors with massively rearranged karyotypes indicate that the chromosome rearrangements present in pseudodiploid cells have little to do with the tumorigenesis or progression. Further support for this conclusion, and indirect evidence that the pseudodiploid clones probably do not represent the tumor cell populations, derives from the present study in which clonal and nonclonal structural rearrangements were also found in short‐term cultures from nonneoplastic skin and pharyngeal mucosa. It is possible that the aberrations are present in subepithelial fibroblasts that have accumulated DNA damage due to extensive exposure to potentially carcinogenic agents.
Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma
Authors: Shapiro David N. , Valentine Marc B. , Sublett Jack E. , Sinclair Anne E. , Thomas Look A. , Tereba Alan M. , Scheffer Hans , Buys Charles H. C. M. 
Published: February 2007

AbstractA characteristic balanced reciprocal chromosomal translocation [t(2;13)(q35;q14)] has been identified in more than 50% of alveolar rhabdomyosarcomas. As the first step in characterization of the genes involved in this translocation, we constructed somatic cell hybrids that retained either the derivative chromosome 2 or the derivative chromosome 13 without a normal chromosome 13 homologue. Ten linked DNA probes known to be located within bands 13q13‐q14 were mapped relative to the breakpoint on chromosome 13, allowing localization of the breakpoint region between two loci separated by 5.5 cM. A long‐range restriction map extending approximately 2,300 kb around these loci failed to provide evidence of rearrangement. Additionally, we confirmed that the FMS‐like tyrosine kinase gene (FLT), previously localized to 13q12 by in situ hybridization, is located proximal to the breakpoint, and we demonstrated that FLT is not a target for disruption by this tumor‐specific translocation.
Frequent clonal abnormalities of chromosome band 13q 14 in b‐cell chronic lymphocytic leukemia: Multiple clones, subclones, and nonclonal alterations in 82 midwestern patients
Authors: Peterson Loann C. , Lindquist Leanna L. , Church Stephanie , Kay Neil E. 
Published: February 2007

AbstractWe performed cytogenetic analyses of peripheral blood lymphocytes from 82 Midwestern B‐cell chronic lymphocytic leukemia (B‐CLL) patients. The cells were cultured with mitogens for 3‐4 days. At least 15 metaphase cells were analyzed in 79 (96%) cases. Fifty (63%) of the 79 patients had clonal chromosomal alterations. Structural modifications of the long arm of chromosome 13 at or near band 13q14 were the most frequent abnormalities, identified in 23 (46%) of the patients with clonal abnormalities. In several patients, the abnormality involving band 13q14 was the sole chromosomal alteration. There was a high incidence of complex karyotypes. Nine patients had multiple subclones that appeared to result from clonal evolution; seven patients had cytogenetically unrelated clones; three patients had both subclones and cytogenetically unrelated clones. Nonclonal abnormalities were also prominent. Our study confirms the high incidence of clonal abnormalities involving chromosome arm 13q and documents the clustering of abnormalities at band 13q14 in B‐CLL. The evidence for clonal evolution and the presence of multiple unrelated clones in these patients suggest that B‐CLL may not be a karyotypically stable disease.
Karyotypic evolution of a murine mammary adenocarcinoma in vitro and during progression from primary to metastatic growth in vivo
Authors: Elliott Bruce E. , Xu Wei , Mudrik Kevin , Marshall John , Holden Jeanette J. A. , Vekemans M. 
Published: February 2007

AbstractWe have previously described a murine mammary tumor cell line (SP1) that metastasizes when transplanted into the mammary gland, but not when injected into the subcutaneous site. We used cytogenetic markers to assess genetic heterogeneity, and to monitor the selection and evolution of karyotypically distinct cell types during primary tumor growth and in metastases. The SPI tumor cells are hypotetraploid (mean chromosome number = 72), and have at least four karyotypically distinct cell types. We found no consistent pattern of selection of tumor cell types in primary tumors. However, metastases were derived from a cell type that was present in the corresponding primary tumor. In addition, novel, karyotypically distinct cell types also appeared in the metastatic nodules. Markers that appeared in metastases included two translocations, t(10; 18) and t(1;19). By injecting a mixture of cells from a metastatic nodule with a non‐metastatic clone into mice, we showed that the new cell types in metastases displayed a stable increased growth and metastatic potential when compared to the non‐metastatic clone, or when compared to the initial cell type from which the metastases derived. These results indicate that metastases are derived from a distinct cell type in the primary tumor, but that additional chromosome and cell evolution occurs, resulting in new cell types that are selected in metastases.
dup(12)(q13→qter) in two t(14;18)‐negative follicular b‐non‐hodgkin's lymphomas
Authors: Wlodarska Iwona , Mecucci Cristina , Vandenberghe Elisabeth , Hilliker Carl , Schoenmakers Eric , Stul Michel , Marynen Peter , Cassiman Jean‐Jacques , Berghe Herman Van Den , De Wolf‐Peeters Chris , Thomas José 
Published: February 2007

AbstractTwo t(14;18)‐negative follicular B‐non‐Hodgkin's lymphomas with the same chromosomal abnormality, dup(12)(q13→qter), are presented. The absence of a BCL2 gene rearrangement was confirmed by molecular studies in both cases. Instead, duplication of a 12q segment was found. Further evidence for the presence of the dup(12)(q13→qter) was found using fluorescence in situ hybridization. dup(12q) may be equivalent to the trisomy 12 originally described in B‐chronic lymphocytic leukemia. This chromosome anomaly has also been reported in B‐non‐Hodgkin's lymphomas, usually in association with other chromosome anomalies and a more aggressive tumor phenotype. Occurrence of dup(12q) in two histologically similar cases of follicular small cleaved‐cell lymphoma without a typical t(14;18), suggests that this karyotypic change may play a critical role in some cases of follicle center‐cell lymphomas.
Hyperdiploidy arising from near‐haploidy in childhood acute lymphoblastic leukemia
Authors: Onodera Norio , McCab Norah R. , Nachman James B. , Leonard Johnson F. , Le Beau Michelle M. , Rowley Janet D. , Rubin Charles M. 
Published: February 2007

AbstractAcute lymphoblastic leukemia (ALL) of childhood is frequently characterized by a hyperdiploid karyotype. Typically, most of the affected chromosomes in the abnormal clone are present in three copies. We have studied two patients with hyperdiploid ALL whose leukemic cells were atypical in that all or most of the chromosomes were present in either two or four copies, raising a suspicion that the observed karyotype arose through duplication of chromosomes in a precursor cell with a near‐haploid chromosome number. Analysis of restriction fragment length polymorphisms confirmed that both cases arose from a near‐haploid cell; all informative disomic chromosomes tested had loss of heterozygosity. Furthermore, the hyperdiploid karyotypes did not arise via a perfect haploid cell with exactly 23 chromosomes, because tetrasomic chromosomes remained heterozygous. These two patients probably are classified best as near‐haploid cases, which often are observed to have a co‐existing hyperdiploid clone with a duplicated chromosome set. The distinction between typical hyperdiploidy and hyperdiploidy arising via a near‐haploid cell may be clinically important, because the prognosis for patients with a hyperdiploid karyotype is favorable in comparison to that of patients with a near‐haploid karyotype.
Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis
Authors: Xu W. , Mulligan L. M. , Ponder M. A. , Liu L. , Ponder B. A. J. , Smith B. A. , Mathew C. G. P. 
Published: February 2007

AbstractType 1 neurofibromatosis (NF1) is a common autosomal dominant disorder that affects tissues derived from the neural crest. The manifestations are varied, comprising generalised disorders of growth and development as well as an increased risk of benign and malignant tumours including phaeochromocytomas and neurofibrosarcomas. The NF1 locus has been mapped to chromosome bands 17q11–12, and recently the NF1 gene has been cloned. Deletions identified in the constitutional genotype of some patients have suggested that the NF1 phenotype may arise from loss of function mutations of the NF1 gene, consistent with the hypothesis that it is a tumour suppressor gene. To date, however, analysis of NF1 tumours has not revealed the frequent allele losses encompassing the NF1 locus, implying loss of the wild‐type NF1 allele, which would support this hypothesis. We report allele losses with markers flanking the NF1 region in each of 7 NF1 phaeochromocytomas. In each of the 3 tumours for which this could be determined, the loss involved the wild‐type chromosome. These results provide strong evidence that, in cells of the adrenal medulla at least, the NF1 gene may act as a tumour suppressor.
Analysis of chromosome 12 aneuploidy in interphase cells from human male germ cell tumors by fluorescence in situ hybridization
Authors: Rodriguez Eduardo , Mathew Susan , Mukherjee Asit B. , Reuter Victor E. , Bosl George J. , Chaganti R. S. K. 
Published: February 2007

AbstractThe i(12p) marker chromosome has been found to be a highly nonrandom chromosome abnormality associated with germ cell tumors (GCTs). We have previously shown that a chromosome 12 centromere specific α‐satellite DNA probe detects the i(12p) by virtue of differences in the size of the signal originating from the i(12p) and normal chromosome 12 centromeres after fluorescence in situ hybridization (FISH) in metaphase and interphase cells of cultured GCT cell lines. We have now extended this analysis to 72 fresh GCT tumor biopsy specimens. Banded cytogenetic analysis was attempted on each of these tumors, 45 of which were found to be clonally abnormal. Data on i(12p) and chromosome 12 copy number obtained by FISH agreed well with those obtained by cytogenetic analysis. In addition, the FISH method made possible the detection and determination of i(12p) and the chromosome 12 copy number in cases in which conventional cytogenetic analysis was unsuccessful. We found the incidence of i(12p) in seminomas to be low (7%) compared to that in nonseminomas (75%) when tumor biopsy specimens were studied by FISH. Our results show that the FISH technique can be used reliably for detection of the diagnostically and prognostically useful i(12p) marker in GCT tumor biopsy specimens.
Pleomorphic adenoma cells vary in their susceptibility to SV40 transformation depending on the initial karyotype
Authors: Kazmierczak Bernd , Thode Brita , Bartnitzke Sabine , Bullerdiek Jörn , Schloot Werner 
Published: February 2007

AbstractChromosomal aberrations involving 8q12 or 12q13–15 characterize two cytogenetic subgroups of salivary gland pleomorphic adenomas. As the tumors of the two groups differ in their clinical and histologic characteristics, we decided to determine their susceptibility to SV40 transformation. We transfected cell cultures from 13 adenomas with aberrations involving 8q12 and from seven adenomas with involvement of 12q13–15 using an SV40 plasmid coding for the early region of the viral genome. Whereas all cultures with aberrations of 12q13–15 showed transformed foci, only 4 of the 13 cultures with 8q12 abnormalities showed foci of transformed cells. We also observed a much higher immortalization rate in the first group (3/7 vs. 1/13). All successfully transformed tumor cell cultures showed a relatively stable karyotype in the pre‐crisis stage and a high mitotic index, were T‐antigen positive, and had an extended life span in vitro.
Distinct breakpoints in band 11q23 of the t(4;11) and t(11;14) associated with leukocyte malignancy
Authors: Radice Paolo , Tunnacliffe Alan 
Published: February 2007

AbstractSeveral non‐random translocation breakpoints associated with leukemia or lymphoma have been shown to occur in chromosome band 11q23 between the genes CD3G and PBGD, a distance of approximately 750 kb. A combination of yeast artificial chromosome (YAC) cloning, in situ hybridization, and pulsed field gel electrophoresis (PFGE) experiments has further refined the interval containing one of these breakpoints, lies in a region of approximately 100 kb, situated 100 kb distal to CD3G. Furthermore, we show that a second 11q23 breakpoint, t(11;14)(q23;q32), which was also previously mapped between CD3G and PBGD, is distinct from that of the t(4;11) chromosome. The 11q23 sequences that are involved at the t(11;14) breakpoint are not present in a YAC containing the t(4;11) breakpoint. The t(11;14) breakpoint has been localized on the PFGE map of the CD3G‐PBGD interval and is at least 110 kb distal to the t(4;11) breakpoint, thus demonstrating heterogeneity among 11q23 breakpoints.
Quantitative acute leukemia cytogenetics
Authors: Mitelman Felix , Heim Sverre 
Published: February 2007

AbstractUsing literature data on cytogenetic abnormalities in 3,612 cases of acute myeloid leukemia (AML) and 1,551 cases of acute lymphocytic leukemia (ALL), we have attempted to quantify the information value of finding the typical ALL‐ and AML‐associated chromosome aberrations. Sensitivity, specificity, and predictive value of finding or not finding a given aberration were calculated for several diagnostic scenarios: for the differential diagnosis between ALL and AML when the patient is known to have acute leukemia, for the differential diagnosis among AML FAB subtypes in a patient with known AML, and for the differential diagnosis between ALL FAB subtypes in a patient with known ALL. The specificities were generally high, close to I. The highest sensitivities in AML were found for +8, t(15;17)(q22;q11), t(8;21)(q22;q22), and‐7 (all > 0.1), and in ALL for t(9;22)(q34;q11), t(4;11)(q21;q23), and +21 (again all >0.1). In the AML subtypes, the highest sensitivities were 0.89 for t(15;17)(q22;q11) in M3, followed by 0.40 for t(8;21)(q22;q22) in M2, 0.30 for inv(16)(p13q22)/del(16)(q22)/t(16;16)(p13;q22) in M4, and 0.16 for t(9;11)(p21;q23) in M5. In the ALL subtypes, the highest sensitivities were 0.71 and 0.11 for t(8;14)(q24;q32) and t(8;22)(q24;q11), respectively, in L3, 0.23 for t(9;22)(q34;q11) in L2, and 0.18 and 0.13 for +21 and t(4;11)(q21;q23), respectively, in LI. The highest (1.0) positive predictive values in the AML versus ALL comparison were found for t(1;3)(p36;q21), inv(3)(q21q26), t(6;9)(p23;q34), t(7;11)(p15;p15), t(8;16)(p11;p13), t(8;21)(q22;q22), t(15;17)(q22;q11), and, as sole anomalies, for +4, +9, and + 11. In the reverse comparison, ALL versus AML, positive predictive values of 1.0 were found for t(1;14)(p32–34;q11), dup(1)(q12–21q31–32), t(2;8)(p12;q24), t(8;14)(q24;q32), t/dic(9;12)(p11–12;p11–13), t(10;14)(q24;q11), and t(11;14)(p13;q11). Among the AML subgroups, the highest predictive values were: 1.0 for M3 if t(15;17), 0.91 for M2 if t(8;21), 0.86 for M4 if inv/del(16)/t(16;16), and 0.82 for M5 if t(9;11). Among the ALL subtypes, positive predictive values of >0.8 were reached only for the L3‐associated aberrations t(2;8) (1.0), t(8;14)(0.95), t(8;22)(0.87), and dup(1) (0.80). The highest negative predictive values were in AML 0.98 that the disease is not M3 if t(15;17) is not found, and in ALL 0.96 that the patient does not have L3 if a t(8;14) is not detected.
Detection of loss of heterozygosity at the human TP53 locus using a dinucleotide repeat polymorphism
Authors: Jones Michael H. , Nakamura Yusuke 
Published: February 2007

AbstractLoss of heterozygosity at the TP53 locus occurs frequently in many types of cancer and requires polymorphic markers for detection. Several polymorphisms at the TP53 locus have been described previously, and polymerase chain reaction (PCR)‐based assays have been developed to detect these polymorphisms. However, these polymorphisms have relatively low levels of heterozygosity and are often uninformative. We report here the detection of loss of heterozygosity at the TP53 locus in various human cancers by using a highly informative dinucleotide repeat polymorphism.
No alterations in exon 21 of the RBI gene in sarcomas and carcinomas of the breast, colon, and lung
Authors: Hovig Eivind , Smith‐Sørensen Birgitte , Gebhardt Mark C. , Ryberg David , Lothe Ragnhild , Børresen Anne‐Lise 
Published: February 2007

AbstractStudies of mutant genotypes of the retinoblastoma susceptibility gene (RBI) in different solid tumors have mainly been concentrated on the demonstration of loss of heterozygosity (LOH) at both internal and external polymorphic sites. One reason for this is the complex organization of the gene. The p105RB protein has been shown to interact with both DNA and regulatory cellular proteins and oncoproteins. The amino acids encoded by exon 21 are implicated in several of these interactions. Both point mutations and intragenic deletions involving exon 21 have previously been reported in human tumors. We have examined RBI exon 21 from a number of human tumor types where significant LOH in or around the RBI gene has been reported. DNA from 78 primary tumors was amplified using the polymerase chain reaction (PCR) with primers covering exon 21, followed by constant denaturant gel electrophoresis (CDGE). The 78 tumors included 11 breast carcinomas, 30 nonsmall cell lung carcinomas, 6 colon carcinomas, and 31 sarcomas. The small cell lung cancer cell line NCI‐H209, previously shown to harbour a point mutation in codon 706: TGT‐ > TTT (Cys‐ > Phe), was detected using CDGE. Apart from this control mutant cell line, we did not detect any mutations in the examined region in any of the tumors.