bluuebunny/crossref_metadata_2025_split huggingface dataset:
Abnormalities of 2q: A common genetic link between rhabdomyosarcoma and hepatoblastoma?
Authors: Rodriguez Eduardo , Reuter Victor E. , Mies Carolyn , Bosl George J. , Chaganti R. S. K. 
Published: February 2007

AbstractCytogenetic and restriction fragment length polymorphism (RFLP) analyses were performed on a mediastinal germ cell tumor comprising distinct teratoma and embryonal rhabdomyosarcoma components in a 31‐year‐old male and a hepatoblastoma in a 2 month‐old male child. Clonal relationship between the teratoma and rhabdomyosarcoma of the germ cell tumor was established by the presence in both of i(12p), the characteristic marker of germ cell tumors. Both the rhabdomyosarcoma component of the mediastinal germ cell tumor and the hepatoblastoma exhibited rearrangements of 2q. These data suggest that malignant differentiation of a teratoma is accompanied by the development of chromosome abnormalities specific for the transformed histology and further suggest that 2q abnormalities may be the common genetic link in the development of the two histologically unrelated tumor types, embryonal rhabdomyosarcoma and hepatoblastoma.
DNA discontinuities in the domain of amplified human MYC oncogenes
Authors: Bianchi Néstor O. , Bianchi Martha S. , Kere Juha 
Published: February 2007

AbstractCOLO320DM and COLO320HSR are cell lines derived from a human colon carcinoma, Both lines have an amplification of the MYC oncogene: COLO320DM in the form of double minute chromosomes, COLO320HSR as a large marker chromosome with homogeneously staining regions. We have used pulsed field gel electrophoresis (PFGE) to analyze undigested DNA from both COLO320 cell lines. Upon blotting and hybridization with a MYC probe, the autoradiograms showed the existence of discontinuities in the amplified DNA domains. Additional evidence indicating a preferential concentration of DNA breaks in the region containing the MYC amplicons was obtained with the alkaline unwinding technique. We propose that amplicons are connected by hairpin formation or Hoogsteen pairing between free DNA ends.
Transcriptional deregulation of myc inlgH/myc 6;7 translocation carrying rat immunocytomas
Authors: Axelson Håkan , Pear Warren S. , Panda Chinmay Kumar , Bazin Herve' , Klein George , Sümegi Janos 
Published: February 2007

AbstractWe have previously shown that the reciprocal translocation t(6;7) associated with the spontaneous immunocytoma of the Louvain rat (RIC) leads to the juxtaposition of myc to the lgH cluster. In 10 of 14 tumors investigated the breakpoints on the myc carrying chromosome were clustered in a 1.5 kb region 5′ of the intact gene, proximal to the myc promoters. In this paper we describe the effect of the translocation on myc transcription in the RIC system. Run‐on analysis showed transcriptional attenuation in the normal rat myc gene, similar to the situation in mice and humans. The attenuation was almost completely abrogated in the three immunocytomas studied. Sequence analysis of two tumors failed to reveal any structural changes within exon I, as found by others in Burkitt's lymphoma. We also show that the transcriptional initiation of myc mRNA is changed in the RICs. In an established line of rat fibroblasts (Rat‐2), the more distal myc promoter (P2) is the preferred site of initiation. In RIC, however, only 30% of transcripts were initiated from P2. We found that 40% of the transcripts were initiated from PI and 30% from a novel promoter, designated PI a, located between PI and P2.
Trisomy 7 in Short‐Term Cultures of Colorectal Adenocarcinomas
Authors: Bardi Georgia , Johansson Bertil , Pandis Nikos , Heim Sverre , Mandahl Nils , Andrén‐Sandberg Åke , Hägerstrand Inga , Mitelman Felix 
Published: February 2007

AbstractCytogenetic analysis of short‐term cultures from six adenocarcinomas of the colon revealed trisomy 7 as a recurrent clonal chromosomal abnormality. In three tumors, +7 was the sole change. In the fourth carcinoma, two aberrant clones with simple numerical aberrations were detected; one with +7 and one with +3. Tumors 5 and 6 both displayed two completely different abnormal clones; one had numerous numerical and structural abnormalities and thus was undoubtedly representative of the cancer parenchyma, and the other had only +7. The karyotypic differences between the coexisting clones in the latter two cases seem to argue against an evolutionary scenario in which the karyotypically more complex clones have evolved from the clones carrying trisomy 7 only. Furthermore, in tumor 6 the metaphases with trisomy 7 were found in colonies of fibroblast‐like cells whereas those with a large number of abnormalities grew in colonies of epithelial‐like cells. The combined results indicate that mitoses with trisomy 7 as the sole chromosomal change do not represent the neoplastic parenchyma of colorectal adenocarcinomas.
Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma
Authors: Barr Frederic G. , Biegel Jaclyn A. , Sellinger Beatrice , Womer Richard B. , Emanuel Beverly S. 
Published: February 2007

AbstractWe present cytogenetic and molecular genetic analyses of two cases of alveolar rhabdomyosarcoma. The characteristic translocation between chromosomes 2 and 13, t(2;13)(q35;q14), has been identified in both cases. Using cell lines derived from these tumor specimens, we have performed Southern blot analysis to investigate the possibility of rearrangement of 14 candidate genes mapping to the relevant regions of 2q and 13q. These candidate genes can be divided into 5 groups: signal transduction proteins (RBI, inhibin α, FLTI, and HOX4B), muscle‐specific products [myosin light chain, desmin, and nicotinic cholinergic receptor subunits γ and δ (CHRNG and CHRND)], extracellular matrix proteins (collagen type VI α3 chain, elastin, and fibronectin), transformation‐associated products (intestinal alkaline phosphatase and L‐plastin), and other genes (esterase D). Conventional gel electrophoresis followed by Southern blot analysis indicated no evidence of rearrangement within or near these genes except for a rearrangement in the CHRNG‐CHRND locus, which occurred only in a subpopulation of the late recurrence tumor cells of one patient. In addition, we employed pulsed‐field gel electrophoresis—Southern blot analysis to demonstrate the absence of detectable rearrangements within a larger region around each of these genes.
t(18;22)(q21;q11) with rearrangement of BCL2 as a possible secondary change in a lymphocytic lymphoma
Authors: Leroux Dominique , Hillion Josette , Monteil Michele , Marc'hadour Francois Le , Jacob Marie‐Christine , Sotto Jean Jacques , Larsen Christian Jacques 
Published: February 2007

AbstractWe report a lymphocytic lymphoma showing a combination of two characteristic neoplasia‐associated chromosomal changes: trisomy 12, commonly observed in chronic lymphocytic leukemia and lymphocytic lymphoma, and t(18;22)(q21;q11), a variant form of the t( 14; 18)(q32;q21) found in most follicular lymphomas. Southern blot analysis was performed using probes for the 5′ end of the BCL2 gene (18q21) and for the JX as well as CX immunoglobulin genes (22q11). With these two probes, a unique rearranged fragment was detected. Thus the t(18;22)(q21;q11) can be considered as a variant translocation of t( 14; 18)(q32;q21). The karyotypic analysis supports the assumption that in our case trisomy 12 occurred first, and t(18;22) appeared during tumor progression as part of the clonal evolution. This is at variance with the typical t( 14; 18), which has never been found to occur as a secondary change.
Specific chromosome change associated with acquisition in vivo of tumorigenicity in carcinogen‐induced rat urinary bladder carcinoma cells
Authors: Debiec‐Rychter Maria , Azuma Masayuki , Zukowski Kim , Oyasu Ryoichi , Wang Ching Y. 
Published: February 2007

AbstractThe correlation between chromosomal changes and tumorigenic potential of rat bladder epithelial cells was investigated. Seven cell lines were established from neoplastic urothelial cells derived from heterotopically transplanted rat bladders treated with topical application of one of two carcinogens, N‐methyl‐N‐nitrosourea (MNU) or N‐hydroxy‐N‐glucuronosyl‐2‐aminofluorene. Loss of the short arm of chromosome 3 was demonstrated in three of four lines tumorigenic in the nude mouse, but in none of three nontumorigenic lines. One of the three nontumorigenic cell lines (D44c) was treated further in vitro with MNU. All six tumorigenic, but none of the four nontumorigenic, morphologically altered cell lines derived from D44c demonstrated loss of the short arm of chromosome 3. These results suggest that chromosome 3 alterations may be associated with the tumorigenicity of carcinogen‐induced rat bladder epithelial cells.
Trisomy 2 and 20 in two hepatoblastomas
Authors: Soukup Shirley W. , Lampkin Beatrice L. 
Published: February 2007

AbstractCytogenetic analysis of two pediatric hepatoblastomas is presented, comparing results in primary tumor samples, nude mouse xenographs, and lung metastases in one case. Both tumors had trisomy 2 and 20 in the primary tumors, along with other structural abnormalities. In subsequent passages/metastases, both tumors showed structural changes in one chromosome 2, resulting in partial trisomy 2q, along with structural changes of other chromosomes. Partial trisomy 1 q was also common to both tumors in late stages. Results are compared to those of embryonal rhabdomyosarcoma, where trisomy 2 has also been noted.
Trisomy 8 as the only chromosome change in an epithelioid smooth muscle tumor
Authors: Cin Paola Dal , De Wever Ivo , Aerts Raymond , Van Damme Boudewijn , Van Den Berghe Herman 
Published: February 2007

AbstractEpithelioid smooth muscle tumor is a rare low grade malignancy that usually occurs in the gastrointestinal tract. No chromosome studies of this tumor have been reported so far. We found trisomy 8 as the sole chromosome anomaly in a large hepatic epithelioid smooth muscle tumor.
Is t(6;20)(p21;q13) a characteristic chromosome change in endometrial polyps?
Authors: Speleman Frank , Cin Paola Dal , Van Roy Nadine , Van Marck Eric , Buytaert Philip , Van Den Berghe Herman , Leroy Jules G. 
Published: February 2007

AbstractCytogenetic analysis of an endometrial polyp showed the presence of a t(6;20)(p21;q13) together with an ins(16;1)(q22;q32q42). Since a 6;20‐translocation has been previously found in another endometrial polyp, we think that t(6;20)(p21;q13) may be a characteristic chromosomal change in endometrial polyps.
Cytogenetic Studies in Acute Promyelocytic Leukemia: A Survey of Secondary Chromosomal Abnormalities
Authors: Berger Roland , Coniat Maryvonne Le , Derré Josette , Vecchione Danièle , Jonveaux Philippe 
Published: February 2007

AbstractA series of 105 patients with acute promyelocytic leukemia (APL) has been cytogenetically investigated at the Department of Hematology of the Saint‐Louis Hospital (Paris) between 1977 and 1990. Sixty‐two patients were examined at diagnosis, 32 in relapse, and 11 both at diagnosis and in relapse. The typical t( 15; 17)(q22;q 12) or variants of this translocation were observed in all but four patients. The t(15;17) was the only change in 47 cases at diagnosis and in 21 examined in relapse. The most frequent secondary change was trisomy 8 (17% at diagnosis). More or less complex chromosomal abnormalities in addition to t(15;17) were present in six patients at diagnosis, and in 17 patients in relapse. Rearrangements of 2q35‐q37 and del(11p) were observed only in relapse and may thus be nonrandom secondary changes. Cytogenetic studies performed on 19 patients treated with all‐trans retinoic acid did not indicate that this treatment induces chromosomal abnormalities.
Murine Radiation Myeloid Leukaemogenesis: A Possible Role for Radiation‐Sensitive Sites on Chromosome 2
Authors: Breckon George , Papworth David , Cox Roger 
Published: February 2007

AbstractThere is a paucity of informative data on the potentially important role of specific sites of chromosomal instability in oncogenic processes. Chromosome 2 deletions and rearrangements are known to characterise radiation‐induced acute myeloid leukae mia in the mouse. Here we statistically establish a concordance between chromosome 2 breakpoint clusters in these leukaemias and chromosome 2 rearrangements carried at a high in vivo frequency by progeny of irradiated haemopoietic cells. Mechanisms of radiation myeloid leukaemogenesis are discussed with respect to multiple radiation‐sensitive sites encoded on chromosome 2 and the possible influence of genomic imprinting on inductive processes.
Multiple DNA Rearrangements in the BCL2 Region in a Patient With Follicular Lymphoma
Authors: Lundgren Erik , Roos Göran , Nordenson Ingrid , Wahlin Anders , Lind Jack 
Published: February 2007

AbstractA 39‐year‐old male with follicular non‐Hodgkin's lymphoma was repeatedly studied with respect to DNA rearrangements with the two probes pFL‐1 and pFL‐2, representing two segments of chromosome 18. The oncogene 6CL2, detected by pFL‐1, was as expected translocated to the J region of the immunoglobulin locus. The standard BCL2 translocation was found in three samples, one obtained at diagnosis, one ten months later, and one after 5 years. Another translocation was found with the probe pFL‐2 hybridizing with a region located about 20 kb 3' from BCL2. This latter rearrangement was found only in the first biopsy, which was obtained at the time of diagnosis, but not in the two later samples, when the morphology of the lymphoma was unchanged. No cytotoxic therapy had been given in the interval from diagnosis to disappearance of the latter rearrangement. Thus, one of the observed translocations (pFL‐2) was detected only in the first biopsy, while the other (pFL‐1) was a clonal marker in all three biopsies. The finding suggests that clonal evolution does not necessarily mean clinical progression.
Clear Cell Sarcoma with t( 12;22) (q13–14;q12)
Authors: Peulve Pascal , Michot Chantal , Vannier Jean‐Pierre , Tron Philippe , Hemet Jacques 
Published: February 2007

AbstractKaryotypic analysis of a clear cell sarcoma revealed a translocation t(12;22) (q13–14;q12) as a primary chromosomal change. This case is the third clear cell sarcoma cytogenetically analyzed; the two previously reported cases had t( 12;22)(p 11;p 11), and a complex karyotype with trisomy 22, respectively.
Cytogenetic Findings in Aneurysmal Bone Cysts
Authors: Pfeifer F. Michael , Bridge Julia A. , Neff James R. , Mouron Barbara J. 
Published: February 2007

AbstractCytogenetic analysis was performed on samples from ten patients diagnosed with aneurysmal bone cyst. Six of the patients were male and four were female, with ages ranging from 7 to 24 years. Results were obtained in eight of the cases; all were karyotypically normal.
Consistent Chromosome Abnormalities in Squamous Cell Carcinoma of the Vulva
Authors: Worsham Maria J. , Van Dyke Daniel L. , Grenman Seija E. , Grenman Reidar , Hopkins Michael P. , Roberts James A. , Gasser Kathleen M. , Schwartz Donald R. , Carey Thomas E. 
Published: February 2007

AbstractSix squamous cell carcinomas of the vulva (SCV) were karyotyped in short‐term culture and in early passages as established cell lines. Each tumor was cytogenetically distinct, contained multiple chromosome rearrangements, and was karyotypically stable in culture. Heterogeneity within individual tumors was manifested by the presence of more than one clonal population, but the clones within each tumor were closely related to one another. Seven consistent chromosome abnormalities found in five of the six tumors were: losses of 3p 14‐cen, 8pter‐p 11, 22q 13.1 ‐q 13.2, and the short arm of the inactive X; chromosome gains involving 3q25‐qter and 11 q21; and rearrangement breakpoints at 5cen‐q 12. Ten additional chromosome changes were observed in four of the six SCVs, and together, 22 changes occurred in at least three of the tumors. Two specific losses, 10q23‐q25 and 18q22‐q23, were present in all four tumors that exhibited biologically aggressive behavior in vivo, but these losses were not found in the tumors of the two long‐term survivors. These findings indicate that: 1) SCVs are genetically complex, but homogeneous; 2) loss of 18q22‐q23 and loss of 10q23‐q25 may be associated with a poor prognosis; and 3) development and progression of SCV appear to result from cumulative effects of altered gene dosage at multiple, consistent loci.
Outgrowth of Stable Class I Major Histocompatibility Complex‐Expressing Subsets From Immunogenic Variants of a Murine Mammary Carcinoma: Association with a Differentially Staining Region on Chromosome 9
Authors: Elliott Bruce E. , Xu Wei , Brissette Louise , Deeley Roger G. , Mudrik Kevin , Marshall John , Vekemans Michel , Holden Jeanette J. A. 
Published: February 2007

AbstractWe have examined interactions among intratumor subpopulations during the rejection of immunogenic variants of a murine mammary carcinoma (SPI) and in the outgrowth of tumorigenic “revertant” subsets. Analysis of subclones isolated during the early phase of rejection of one immunogenic variant revealed extensive cellular heterogeneity of tumor‐forming ability and class I major histocompatibility complex (MHC) expression. Two main categories of subclones were identified. One set expressed high levels of class I MHC (MHC H) and grew poorly or not at all in normal syngeneic mice. The second set of clones expressed generally low levels of class I MHC (MHCL) and exhibited progressive growth in vivo, similar to the parent tumor. The steady‐state mRNA levels for class I MHC and β2‐microglobulin were constitutively elevated in MHCH clones compared to MHC L clones or the parent tumor. However, in vivo tumorigenic outgrowths from immunogenic variants always expressed the MHCH phenotype. A cytogenetic analysis was carried out to determine the clonal origin and lineage relationship of in vivo selected tumor outgrowths. Surprisingly, tumor outgrowths from mixtures of karyotypically distinct MHCH and MHCL subclones were derived from one lineage within the MHCH subset, despite the fact that MHCH subclones exhibited slower growth in vivo than MHCL subsets when analyzed individually. These results suggest that in polyclonal populations the various subsets sometimes interact in a way that overrides the influence of immunogenic and MHC phenotypes of individual subclones.
Variant Translocations of Chromosome 13 in Alveolar Rhabdomyosarcoma
Authors: Douglass Edwin C. , Rowe Susan T. , Valentine Marc , Parham David M. , Berkow Roger , Paul Bowman W. , Maurer Harold M. 
Published: February 2007

AbstractIn three cases of alveolar rhabdomyosarcoma with variant translocations, two tumors contained an identical translocation, t(1;13)(p36.1;q14); the third tumor contained a t(8;13)(p21;q14). All three patients were 2 years old, markedly younger than the median age for patients with t(2; 13)‐positive alveolar rhabdomyosarcoma. The alteration of genetic material on chromosome 13 may be of primary importance in the development of alveolar rhabdomyosarcoma.
Chromosomal Translocation t(1;13)(p36;q14) in a Case of Rhabdomyosarcoma
Authors: Biegel Jaclyn A. , Meek Rita S. , Parmiter Annette H. , Conard Katrina , Emanuel Beverly S. 
Published: February 2007

AbstractCytogenetic studies of a rhabdomyosarcoma of mixed embryonal and alveolar histology in an II ‐month‐old male revealed a single structural abnormality, t(1;13)(p36;q14). This abnormality may define a subset of patients with a variant of the t(2;13)(q35;q14) translocation frequently seen in alveolar rhabdomyosarcoma.
A complex genetic rearrangement in a t(10;14)(q24;q11) associated with T‐cell acute lymphoblastic leukemia
Authors: Park James K. , Le Beau Michelle M. , Rowley Janet D. , Diaz Manuel O. , Shows Thomas B. 
Published: February 2007

AbstractThe t(10;14)(q24;q11) is observed in the leukemia cells of 5–10% of cases of T‐cell acute lymphoblastic leukemia (T‐ALL). Recently, molecular analyses of a number of these translocations revealed simple reciprocal translocations between the T‐cell receptor delta chain gene (TCRD) and a region of 10q24. We have characterized, at the molecular level, a t(10;14)(q24;q11) in a patient with T‐ALL. The translocation in this case, in contrast to the previous cases, is part of a complex genetic rearrangement. In addition to a reciprocal translocation between the Dδ3 gene segment of TCRD and a region of 10q24, a local inversion occurred within TCRD, involving the Dδ2 and Vδ2 gene segments. As a consequence, the entire joining and constant regions and most of the diversity regions of TCRD are located on the derivative 14 chromosome, whereas the joining and constant regions of TCRA are positioned on the derivative 10 chromosome. The chromosome 10 breakpoint in our patient, as in other t(10;14), clusters within a 9 kb breakpoint region. The occurrence of seven breakpoints within a localized region of chromosome 10 implies the existence of a nearby gene whose activation may have conferred a selective advantage on the leukemia cells. Moreover, as in the previous cases, the translocation in the present study exhibits recombination signal sequences or signal‐like sequences adjacent to the breakpoint junction. The presence of such motifs suggests the involvement of the recombinase enzyme system in the generation of this genetic alteration.
Ring chromosomes in a retroperitoneal lipoma of childhood
Authors: Mitchell Erika L. D. , Kelsey Anna , Armstrong Gordon , Dickson Alan 
Published: February 2007

AbstractWe report here the presence of ring chromosomes in a retroperitoneal lipoma from a 12‐year‐old male. Ring chromosomes are strongly associated with the pathological subtype “atypical lipoma” in adults. In contrast, however, the tumour described here possesses no atypical features.
Ph‐positive chronic myeloid leukemia with loss of the segment distal to M‐bcr
Authors: Pedersen Bent , Bartram Claus R. , Nielsen Johan Lanng 
Published: February 2007

AbstractWe describe a patient with chronic myeloid leukemia (CML) and a 22q‐ but no 9q + chromosome. Southern blot analysis showed a BCR rearrangement. The patient soon developed profound and superficial thrombophlebitis in arms and legs and died from pulmonary embolisation 15 days after diagnosis. Five CML cases with a deletion of 22q but no known translocation of 22qll → qter have been described earlier. The present patient is the first such case, however, in whom a BCR rearrangement has been demonstrated.
Nonradioactive in situ hybridisation of the translocation t(1;7) in myeloid malignancies
Authors: Kibbelaar Robert E. , Mulder Jan‐Willem R. , Dreef Enno J. , Kluin Philip M. , Kamp Harmen Van , Haak Hans L. , Raap Anton K. , Wessels Hans W. , Beverstock Geoffrey C. 
Published: February 2007

AbstractBone marrow cells of four patients with t(1;7) and myelodysplasia or acute myeloid leukemia were analyzed using nonradioactive in situ hybridisation. As probes, centromeric alphoid DNA sequences of chromosomes 1 and 7, a satellite DNA probe for 1q12, and chromosomespecific libraries of chromosomes 1 and 7 were used. The breakpoints of the t(1;7)(p11;p11) as determined by banding analysis could be studied more accurately, and the recently proposed designation t(1;7)(cen;cen) was confirmed in all four cases. Colocalization of alphoid DNA sequences of chromosomes 1 and 7 by double target in situ hybridisation was demonstrated in metaphase cells and also in interphase nuclei. The in situ hybridisation method described is applicable for the screening of peripheral blood cells or archival material.