bluuebunny/crossref_metadata_2025_split huggingface dataset:
Detection of preferential NRAS mutations in human male germ cell tumors by the polymerase chain reaction
Authors: Ganguly Sabyasachi , Murty Vundavalli V. V. S. , Samaniego Felipe , Reuter Victor E. , Bosl George J. , Chaganti R. S. K. 
Published: February 2007

AbstractWe have studied 31 male germ cell tumors (GCTs) for probable mutations in codons 12, 13, and 61 of HRAS, KRAS, and NRAS oncogenes using the polymerase chain reaction. Twenty of the thirty‐one tumors exhibited NRAS gene mutations, 14 in codon 61, and six in codon 12, whereas no mutations were detected in HRAS and KRAS genes. The NRAS mutations were equally prevalent in seminomatous and nonseminomatous GCTs. Thus 13 of 22 seminomas, six of seven embryonal carcinomas, and one of two mixed tumors exhibited mutations. Two non‐seminomatous tumors (an embryonal carcinoma and a yolk sac/teratoma) had mutations in both codons 12 and 61. The high frequency of NRAS mutations observed in the present study suggests that NRAS gene products may play an important role in growth regulatory functions of premalignant and malignant germ cells.
Characterization of the translocation breakpoint sequences in philadelphia‐positive acute lymphoblastic leukemia
Authors: Papadopoulos Panos C. , Greenstein Amy M. , Gaffney Robert A. , Westbrook Carol A. , Wiedemann Leanne M. 
Published: February 2007

AbstractWe have previously described a patient in whom the breakpoint occurred within the first intron of the BCR gene and have cloned the 9q+ and 22q− junctions. We have now determined the nucleotide sequence around the breakpoints on both translocation products from this patient as well as the corresponding regions from the normal chromosomes 9 and 22. We have compared the sequence with that of the breakpoint regions in the Ph1‐positive leukemic patients in order to check for the presence of conserved motifs. A + T‐rich sequences and ALU repeat elements are the only sequence characteristics which appear to be very common around translocation regions. The chromosome 9 ABL sequences at or adjacent to the breakpoints present in the 22q‐ product show homology to the consensus ALU sequence while the chromosome 22 sequences do not, suggesting a non‐homologous recombination mechanism. While no sequences are deleted, there is a two‐base‐pair “homology” at the junction. Therefore, staggered breaks followed by ligation and repair could be part of the mechanism involved in the process of translocation in some cases of Ph1‐positive ALL.
Sequential karyotypes in non‐Hodgkin lymphoma: Their nature and significance
Authors: Levine Ellis G. , Juneja Surender , Arthur Diane , Garson O. Margaret , Machnicki Joy L. , Frizzera Glauco , Ironside Philip , Cooper Ian , Hurd David D. , Peterson Bruce A. , Mosel Diane , Bloomfield Clara D. 
Published: February 2007

AbstractThe examination of sequential karyotypes in hematologic disorders has demonstrated that karyotypic changes are often associated with concurrent changes in clinical behavior. Acquired abnormalities that recur among different patients may also suggest genomic areas important to tumor progression. We therefore examined sequential karyotypes in 21 patients with non‐Hodgkin lymphoma (NHL). Sixteen of the 21 karyotypes demonstrated changes, including the majority of 6 small lymphocytic, 11 follicular, and 4 intermediate and high‐grade diffuse lymphomas. The t(14;18)(q32;q21) occurred in ten initial karyotypes and was retained in all cases. The band most frequently affected by newly acquired abnormalities was 14q32 (n = 5); chromosomes 1 and 2 (n = 5, each), and the 17p arm (n = 4) were also commonly affected. The acquired deletion of all or part of 17p appeared to be associated with a poor prognosis. Histologic transformation and karyotypic change did not correlate. This study of sequential karyotypes in NHL 1) confirms the primary importance of the t(14;18), 2) suggests that the 14q32 band is involved frequently in both primary and secondary cytogenetic events, and 3) suggests other genomic regions of potential significance to progression.
Molecular and cytogenetic studies of a patient with philadelphia‐negative, BCR‐positive chronic myeloid leukemia and t(12;12)(q13;p12)
Authors: Zaccaria Alfonso , Testoni Nicoletta , Tassinari Angela , Celso Bommina , Emanuel Beverly S. , Budarf Marcia , Saglio Giuseppe , Guerrasio Angelo , Barletta Cosimo , Peschle Cesare , Tura Sante 
Published: February 2007

AbstractA patient with Philadelphia (Ph1)‐negative, breakpoint cluster region (bcr)‐positive chronic myeloid leukemia (CML) is reported. Pulsed‐field gel electrophoretic analysis demostrated the comigration of both ABL and BCR sequences on the same Bss1–111 and Sac11 fragment. Moreover, in situ hybridization studies demonstrated that ABL sequences had been moved from band 9q34 to 22q11 and that the additional t(12;12)(q13;p12) was not involved in the ABL/BCR related translocation. Neverthless, a possible role of oncogenes or regulatory sequences activated or inhibited by the additional translocation cannot be excluded.
Cytogenetic and molecular analysis of human male germ cell tumors: Chromosome 12 abnormalities and gene amplification
Authors: Samaniego Felipe , Rodriguez Eduardo , Houldsworth Jane , Murty Vundavalli V. V. S. , Ladanyi Marc , Lele Kusum P. , Chen Quanguang , Dmitrovsky Ethan , Geller Nancy L. , Reuter Victor , Jhanwar Suresh C. , Bosl George J. , Chaganti R. S. K. 
Published: February 2007

AbstractWe report karyotypic analysis of 24 male germ cell tumors (GCTs) with clonally abnormal karyotypes biopsied from testicular and extragonadal lesions from 20 patients belonging to the histologic categories seminoma, teratoma, embryonal carcinoma, choriocarcinoma, and endodermal sinus tumor. Chromosomes 1, 7, 9, 12, 17, 21, 22, and the X chromosome were nonrandomly gained in these tumors. Nonrandom structural changes affected most frequently chromosomes 1 and 12, the latter as i(12p) and/or del(12)(q13→q22). The i(12p) was seen in 90% of tumors which included all histologic subtypes and gonadal as well as extragonadal presentation. Our present results, along with those from published data on fresh GCT biopsies, establish that i(12p) is a highly nonrandom chromosome marker of all histologic as well as anatomic presentations of GCTs. In contrast, we found del(12)(q13→q22) exclusively in nonseminomatous GCTs (NSGCTs) and mixed GCTs (MGCTs) occurring in 44% of such lesions. Because successful cytogenetic analysis of fresh tumor specimens is not always possible, we developed a method based on DNA analysis to detect i(12p) as increased copy number of 12p. In addition to the changes affecting chromosome 12 identified above, we have detected, for the first time, cytological evidence of gene amplification in the form of homogeneously staining regions (HSRs) and double minute chromosomes (dmins) in treated as well as untreated primary extragonadal and metastatic GCTs and confirmed the presence of amplified DNA in one of these tumors at the molecular level by the in‐gel renaturation method. Hybridization of DNA from cultured cells from an HSR‐bearing tumor with a panel of probes for genes known to be amplified or otherwise perturbed in diverse tumor systems did not identify the amplified gene, suggesting amplification of a novel gene or genes. This study comprises the largest series of GCT cytogenetics attempted so far. Notably, it includes data on a series of primary mediastinal tumors, a group which previously has not been studied in any detail.
Leukemia characterized by multiple sub‐clones with unbalanced translocations involving different telomeric segments: Case report and review of the literature
Authors: Shippey Caroline A. , Layton Mark , Secker‐Walker Lorna M. 
Published: February 2007

AbstractA 68‐year‐old man presented with t(4;11)(q21;q23). B‐lineage acute lymphoblastic leukemia (ALL) which was negative for C‐ALL antigen and TdT. Clonal evolution to five different, but related karyotypes, in which chromosomal material distal either to 1q11 or 1q21 was translocated to the terminal regions of 4q‐, 11q, 16q, and 19p resulted in partial or total trisomy of 1q. The patient, having achieved a short remission, died 14 weeks after diagnosis. Five reports of jumping translocations in hematological malignancies, four with B‐lineage malignancy, are reviewed. One (four cases) or both (one case) of the same 1q breakpoints were consistently found and 11q and 16q were repeatedly involved. Such cases, having multiple subclones with trisomy 1q, may form a distinct subgroup of ALL.
Use of a centromere‐specific DNA probe (p82H) in nonisotopic in situ hybridization for classification of micronuclei
Authors: Becker Pia , Scherthan Harry , Zankl Heinrich 
Published: February 2007

AbstractThe DNA probe p82H was used to visualize centromeric DNA in micronuclei (MN) of human cells. Slides prepared from cultures treated by the aneugen (causing aneuploidy) colcemid showed significantly more MN with centromeric signals than those treated by the clastogen (causing chromosome breakage) bleomycin. These results indicate that in situ hybridization with the alphoid p82H DNA probe is a suitable method with which to distinguish between MN containing whole chromosomes and acentric fragments, and hence allows one to discriminate between the clastogenic and aneugenic effects in MN formation.
Loss of genetic information in central nervous system tumors common to children and young adults
Authors: James C. David , He Ju , Carlbom Elisabeth , Mikkelsen Tom , Ridderheim Per‐Ake , Cavenee Webster K. , Collins V. Peter 
Published: February 2007

AbstractThe clonal loss of genetic information as revealed by the comparison of normal and tumor DNA restriction fragment length alleles has permitted the determination of the genomic positions of cancer‐recessive mutations. Here we have applied this approach to the analysis of 19 central nervous system tumors that constitute four histologic groups and occur most frequently in children and young adults. The detectable loss of genetic information from cases of medulloblastoma (11 examined) indicates that among such tumors, loss occurs most frequently from the short arm of chromosome 17. For the ependymomas examined (four cases), chromosome 22 was the preferred site for detectable loss. Analysis of pilocytic astrocytomas of the cerebellum (three cases) failed to reveal genetic alterations of any type among such tumors, a finding unique to this histologic group. The single choroid plexus papilloma examined demonstrated loss of genetic information from chromosome 3. Among the 19 tumors, multiple cases of loss were observed from chromosomes 10, 11, 13, and 22, and from the short arm of chromosome 17. Therefore, with regard to the chromosomal locations of implied tumor suppressor genes, these results are consistent with those described for intracranial tumors occurring more commonly in adults of middle to advanced age.
Molecular evaluation of abnormalities of the short arm of chromosome I in neuroblastoma
Authors: Hunt Jay D. , Tereba Allan 
Published: February 2007

AbstractCytogenetic analyses have documented the consistent deletion of part of the short arm of chromosome 1 in neuroblastoma cells suggesting the presence of a suppressor gene in this chromosomal region. To determine the smallest region of deletion overlap at the molecular level on independently derived tumors and to define the location of the breakpoints more precisely, Southern analyses were performed on a somatic cell hybrid panel containing the normal and altered chromosomes 1 from seven neuroblastoma lines. By this method we were able to analyze a panel of 20 cloned sequences and two isozymes to determine the location of the breakpoints. Our findings indicate that the proximal breakpoints of chromosome 1 deletions range over a distance of more than 50 cM with the most distal deletion breakpoint occurring between MYCL1 and DIS57. In addition, using restriction fragment length polymorphisms, it was determined that in at least three of the five cell lines in which MYCL1 was deleted from a chromosome I, the gene was translocated to another chromosome thus retaining the diploid complement. We propose that the neuroblastoma susceptibility gene is located distal to MYCL1 and that there is another gene which is linked to MYCL1 that may be involved in this neoplasm.
t(11;22) in three cases of peripheral neuroepithelioma
Authors: Miozzo Monica , Sozzi Gabriella , Calderone Carla , Pilotti Silvana , Lombardi Luciano , Pierotti Marco A. , Porta Giuseppe Della 
Published: February 2007

AbstractShort‐term cultures of three cases of peripheral neuroepitheliomas were studied using G‐banding technique. A t(11;22)(q24;q12) was recognized in all three tumors. The results strengthen the hypothesis of a common histogenesis for neuroepithelioma, Ewing's sarcoma, and the Askin tumor.
Chromosome abnormalities in multiple meningiomas of a child
Authors: Wullich Bernd , Mayfrank Lothar , Schwechheimer Karl , Finke Jürgen , Schempp Werner 
Published: February 2007

AbstractWe report the cytogenetic findings in two meningiomas from a child presenting with multiple meningiomas. In contrast to the chromosomal profile of adult meningiomas, both tumors studied revealed excess of chromosomes in addition to monosomy 22. This difference is remarkable considering several reports indicating that childhood meningiomas behave differently and have a worse prognosis than those in adults.
Monosomy 20: A nonrandom finding in childhood acute lymphoblastic leukemia
Authors: Betts David R. , Kingston Judith E. , Dorey Elaine L. , Young Bryan D. , Webb David , Katz Fay E. , Gibbons Barbara 
Published: February 2007

AbstractWe describe four cases of childhood acute lymphoblastic leukemia with monosomy 20 as the sole cytogenetic abnormality. These cases represent 3.4% of cytogenetically abnormal childhood ALL studied in our institute at diagnosis. The patients presented at similar age, ranging from 31 to 36 months. All four patients remain in first remission with survival time being at least 20 months from the time of diagnosis.
Malignant rhabdoid tumor: A highly malignant childhood tumor with minimal karyotypic changes
Authors: Douglass Edwin C. , Valentine Marc , Rowe Susan T. , Parham David M. , Wilimas Judith A. , Sanders Joann M. , Houghton Peter J. 
Published: February 2007

AbstractMalignant rhabdoid tumors (MRT) are rare; thus very few cytogenetic studies of this type of tumor have been performed. We report the results of cytogenetic studies of 10 MRTs from various anatomic primary sites. Six cases had normal diploid karyotypes with no detectable rearrangements or aneuploidy except for occasional tetraploid cells. In 4 of these cases the tumor phenotype was verified by electron microscopic studies. In a seventh case only normal cells were identified in short‐term culture, but a del(13)(q14) appeared after 4 months in culture. A soft tissue MRT contained a translocation, t(8;15)(q12;p11), and a liver MRT contained a del(3)(q21) or t(3;?)(q21;?). The single case of a primary brain MRT had monosomy 22 with deletion of part of the remaining chromosome 22. Our findings indicate that visible chromosomal rearrangements occur in fewer than half of MRTs. When combined with other reported series, our study indicates that monosomy 22 is a non‐random chromosomal abnormality in primary MRT of the brain.
A submicroscopic homozygous deletion at the D3S3 locus in a cell line isolated from a small cell lung carcinoma
Authors: Rabbitts Pamela , Bergh Jonas , Douglas Jenny , Collins Francis , Water Jonathan 
Published: February 2007

AbstractWe have used 14 DNA probes, which detect 19 different restriction enzyme length polymorphisms, to search for heterozygosity on chromosome 3 in five cell lines isolated from patients with small cell lung carcinoma. The cell lines on karyotype analysis did not show the deletion in chromosome 3 characteristic of this disease. Our objective was to determine if allelic loss had occurred by some chromosomal mechanism other than deletion. Two of the cell lines are consistent with allelic loss having occured by whole chromosome loss and reduplication. The third may have lost only the short arm due to i(3q) formation. The fourth cell line has an i(3q) chromosome, together with a translocation product involving the distal portion of the short arm of chromosome 3. Lack of evidence of heterozvgosity for this distal portion of 3p suggests that a copy of the 3p homologue is involved in the translocation and therefore does not explain allelic loss of the other homologue. The fifth, while also likely to have lost one chromosome homologue, has a submicroscopic deletion on all chromosome 3s, only detectable by RFLP analysis. Such homozygous deletions have recently proved useful in the isolation of tumour suppressor genes.
Use of fluorescent in situ hybridization to detect chromosomal rearrangements in somatic cell hybrids
Authors: Giaccia Amato J. , Evans James W. , Brown J. Martin 
Published: February 2007

AbstractIn situ hybridization of hamster/human hybrids with biotinylated human genomic DNA has revealed that human chromosomal DNA can integrate into the hamster genome and is not always cytologically detectable. This finding helps to explain why discordancy can arise in gene mapping by failing to recognize small pieces of foreign DNA in the rodent genome. Fluorescent in situ hybridization allows one to locate these fragments in rodent chromosomes visually and possibly to identify their chromosome of origin.
Chromosome alterations in 21 non‐small cell lung carcinomas
Authors: Miura Ikuo , Siegfried Jill M. , Resau James , Keller Steven M. , Zhou Jian‐Yuan , Testa Joseph R. 
Published: February 2007

AbstractCytogenetic analysis was performed on 16 primary tumors, 2 effusions, and 3 cell lines from 21 patients with non‐small cell lung cancer (NSCLC). In 20 patients specimens were obtained prior to initiating cytotoxic therapy. Extensive clonal chromosome alterations were found in all cases. The most frequent numerical changes were polysomy 7 and polysomy 20 (each seen in 12 specimens). In addition, tumor cells from another six cases exhibited partial trisomy 7, with the shortest region of overlap (SRO) at 7p11–p13. Rearrangements of chromosomes 1, 3, 6, 8, 11, 15, 17, and 19 were each observed in nine or more tumors. Breakpoints were clustered at several chromosomal sites, including 1p13, 3p13, 15p11–q11, 17p11, and 19q13. Recurrent loss involving 1p, 3p, 6q, 11p, 15p, 17p, and 19q were each seen in at least eight cases. The SRO of 3p losses was at band 3p21. Double minute chromosomes were found in three tumors. Overall, our findings indicate that even though karyotypes in newly diagnosed NSCLC are very complex, recurrent cytogenetic changes can be identified. The high incidence of loss of 17p (14 of 21 specimens) appears to be compatible with reports implicating the TP53 gene (at band 17p13) as a frequent site for genetic alteration in lung cancer. Moreover, the recurrence of loss of 3p (12 cases) and 11p (10 cases) is also consistent with recent molecular evidence. The existence of other “hot spots” for cytogenetic change, particularly those involving specific regions on chromosomes 7, 15, and 19, warrants further molecular investigation of these sites in NSCLC.
In situ hybridization ascertains the presence of a translocation t(6;11) in an acute monocytic leukemia
Authors: Derré Josette , Cherif Dorra , Le Coniat Maryvonne , Julier Cécile , Berger Roland 
Published: February 2007

AbstractIn situ hybridization was performed in a case of acute monoblastic leukemia (FAB type M5b) with a rearrangement of the long arm of chromosome 11. Cytogenetic analysis after R‐ and G‐banding showed an apparent deletion of 11q with a breakpoint at 11q23, and a translocation t(6;11) was suspected in certain metaphases. In situ hybridization with a biotinylated cosmid probe hybridizing at 11q25 confirmed the translocation t(6;11)(q27;q23). Use of nonradioactive in situ hybridization techniques for more precise characterization of chromosomal rearrangements in malignant cells is emphasized.
Geographic heterogeneity of neoplasia‐associated chromosome aberrations
Authors: Johansson Bertil , Mertens Fredrik , Mitelman Felix 
Published: February 2007

AbstractUsing a database comprising 13,266 cytogenetically abnormal neoplasms, the geographic heterogeneity of neoplasia associated chromosomal abnormalities was investigated by comparing the frequencies of characteristic aberrations in consec utive series of patients with the same diagnosis. Significant frequency differences between geographic areas were found for the aberrations +8, i(17q), +19, and an additional Ph1 chromosome in chronic myeloid leukemia (CML); ‐5, 5q‐, and +8 in acute nonlymphocytic leukemia (ANLL); t(8;21) in ANLL‐M2; t(15;17) in ANLL‐M3; 5q‐ and ‐7 in myelodysplastic syndromes (MDS); t(9;22) and +21 in acute lymphocytic leukemia (ALL); t(14;18) in follicular lymphoma; ‐8 and ‐22/22q‐ in menin gioma; and structural abnormalities of 12q in pleomorphic adenoma of the salivary glands (PAS). No geographic incidence variation was detected for ‐7 and +21 in ANLL; +8 in MDS; 6q‐ and +8 in ALL; + 12 in chronic lymphocytic leukemia; 6q‐in non‐Hodgkin's lymphoma (NHL); t(8; 14) in Burkitt's lymphoma; t( 11;22) in Swing's sarcoma; i( 12p) in germ cell tumors; I p‐in neuroblastoma; structural abnormalities of 3q, 8q, and 9p in PAS; or 3p‐ in renal cell carcinoma. Intraregional frequency similarities between cytogenetically identical abnormalities in related tumor types were also analyzed. No significant correla tions were found regarding the incidence of 5q‐ in ANLL and MDS, 6q‐ in ALL and NHL, ‐7 in ANLL and MDS, +8 in ANLL and CML, +8 in ANLL and MDS, +8 in ALL and ANLL, or +21 in ALL and ANLL. The findings indicate that some geographic heterogeneity of tumor‐associated aberrations exists both in hematologic neoplasms and in solid tumors. This could be due to genetic factors, although at present no evidence supports this explanation, or to environmental factors, which have been shown to influence the chromosome pattern in some tumor types. It is also possible that both factors are of importance but in different stages of tumorigenesis. Primary and secondary abnormalities may originate through different mechanisms; e.g., environmental factors might be mainly involved in the genesis of primary anomalies, whereas constitutional factors might be more important for the secondary.
Gene mapping by microdissection and enzymatic amplification: Heterogeneity in leukaemia associated breakpoints on chromosome II
Authors: Cotter Finbarr E. , Lillington Debra , Hampton Garret , Riddle Peter , Nasipuri Soma , Gibbons Barbara , Young Bryan D. 
Published: February 2007

AbstractA new strategy for mapping chromosome translocation breakpoints in relation to known genes has been developed. This approach is based on the amplification by the polymerase chain reaction (PCR) of specific target sequences from small numbers of microdissected chromosome fragments. This method has been applied to leukaemia‐associated translocations affecting the q23 region of chromosome I I. In two independent leukaemias, the t(6; 11) translocation was distinguished from the t(9; 11) and t(4; 11) translocations by demonstrating that the former breakpoint on chromosome 11 lay proximal to the CD3D gene while the latter breakpoints lay distal to CD3D. All three translocation breakpoints were found to lie proximal to ETSl and THYl. The data suggest that although these leukaemia‐associated breakpoints on chromosome 11 are cytogenetically identical they may involve disruption of different genes. This approach offers a rapid alternative to mapping by hybridisation of probes either in situ to chromosomes or to somatic cell hybrids containing the appropriate derivative chromosomes.