bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular heterogeneity at the breakpoints of smaller 20q deletions
Authors: Hollings Peter E. 
Published: February 2007

AbstractDeletions of the long arm of chromosome 20 [del(20q)] are recurring abnormalities in patients with myeloid disorders. Although variable in size, these deletions are usually interstitial. With the object of defining a commonly deleted region for smaller 20q deletions, we used quantitative Southern blot analysis complemented by restriction fragment length polymorphism (RFLP) analysis to determine the copy number at 15 loci spanning 20q. The proximal breakpoints of three such deletions were found to separate HCK and the growth hormone releasing factor (GHRF) locus near the centromeric boundary of band 20q 11.2. The distal breakpoints were localized to the vicinity of the D20S22 locus in band q13.1.A candidate tumor suppressor gene, RBL2, and the SRC oncogene were both located within the commonly deleted region. Six loci in terminal region q13.2‐q13.3 were conserved on these del(20q) chromosomes, thereby confirming that the deletions were interstitial. Molecular heterogeneity at one and possibly both deletion breakpoints rules out the pathological involvement of loci at these sites. Instead, loss of a tumor suppressor locus from within the commonly deleted region may contribute to deregulated hemopoiesis.
Consistent chromosomal losses in head and neck squamous cell carcinoma cell lines
Authors: Sreekantaiah Chandrika , Rao Pulivarthi H. , Xu Li , Sacks Peter G. , Schantz Stimson P. , Chaganti R. S. K. 
Published: February 2007

AbstractClonal chromosomal abnormalities were characterized in nine cell lines established from squamous cell carcinomas of the head and neck. Aneuploidy was a common feature; one cell line was near‐diploid, three were near‐triploid, four were near‐tetraploid, and one cell line showed extensive variation in chromosome numbers. Consistent numerical abnormalities included loss of the sex chromosomes in six cell lines, losses of chromosomes 2 and 21 in six and five cell lines, respectively, and gain of chromosome 20 in five cell lines. Recurrent structural rearrangements included del(10)(q22‐q26) (seven cell lines), i(5)(p10) (six cell lines), i(8)(q10) (six cell lines), add(19)(q13) (six cell lines), del(4)(q21‐q31.3) (five cell lines), i(3)(q10) (four cell lines), del(12)(p11.1‐p12) (four cell lines), and add (18)(q21‐q23) (four cell lines). Other changes were noted in lower frequencies. Loss of specific regions on chromosomes 2, 3p, 4q, 5q, 8p, 10q, 12p, 18q, 19q, and 21 suggests that they may represent sites of putative tumor suppressor genes, loss of which may play a role in the pathogenesis of squamous cell carcinomas of the head and neck. Alternatively, gain of chromosomal region 3q, 5p, and 8q due to isochromosome formation suggests that more than one mechanism is involved in malignant transformation. Cytogenetic evidence of gene amplification was found in two cell lines; as an hsr(11)(q 13) in one and as dmins in the other. The clonal karyotypes of four cell lines were compared with those of their respective primary tumors. In all cell lines, clonal evolution had occurred, with loss of some rearrangements present in the primary tumors or the gain of additional abnormalities.
The heregulin gene can be included in the 8p12 amplification unit in human breast cancer
Authors: Adélaïe José , Penault‐Llorca Frédérique , Dib Amel , Yarden Yosef , Jacquemier Jocelyne , Birnbaum Daniel 
Published: February 2007

AbstractThe Heregulin (HGL) gene, encoding a ligand for a member of the ERBB receptor family, is located at 8p 12‐p22, in or close to a region frequently amplified in breast carcinoma. Amplification of HGL was detected in three of 83 (3.6%) cases of breast tumors. No overexpression of the gene was observed in the amplified tumors. This and the low incidence of amplification suggest that HGL is not the key gene of the 8p 12 amplification but may be used as a marker of large amplification units.
Identification, molecular cloning, and characterization of the chromosome 12 breakpoint cluster region of uterine leiomyomas
Authors: Schoenmakers Eric F. P. M. , Mols Raf , Wanschura Sylke , Kools Patrick F. J. , Geurts Jan M. W. , Bartnitzke Sabine , Bullerdiek Jörn , Berghe Herman Van Den , Van Ven Wim J. M. De 
Published: February 2007

AbstractRecent molecular cytogenetic analysis of uterine leiomyoma cell lines with chromosome 12 aberrations has indicated that their chromosome 12 breakpoints map between linkage locus D12S8 and the CHOP gene. Here, we report fluorescence in situ hybridization (FISH) and molecular cloning studies of the chromosome 12 breakpoints in a panel of seven such uterine leiomyoma cell lines; five with the frequently observed t(12; 14)(q15;q24), one with t(12;15)(q15;q24), and one with ins(12;11)(q14;q21 qter). Directional chromosome walking studies starting from D12S8 and the CHOP gene resulted in the isolation of a relatively large number of overlapping YAC clones, including Y5355 (465 kbp), Y7673 (360 kbp), and Y9899 (275 kbp). In total, the inserts of these three YAC clones span an 800 kbp long and presumably contiguous stretch of human genomic DNA. All chromosome 12 breakpoints of the uterine leiomyoma cell lines studied were found by FISH analysis to be mapping within a 445 kbp subfragment of this region and, furthermore, to be dispersed over a DNA region which is at least 150 kbp in size. The chromosome 12 breakpoint of t(12;14)(q15;q24) in uterine leiomyoma cell line LM‐30.1/SV40 was tentatively mapped within the 60 kbp region between YAC clones Y9899 and Y5355. From this 60 kbp region and close to sequencetagged site RM99, we isolated probe pRM 118‐A, which showed in Southern blot analysis that it detected a rearrangement in LM‐30.1/SV40 DNA, and generated restriction maps of the normal and rearranged genomic DNA regions detected with this probe. Finally, we molecularly cloned part of one of those rearranged DNA fragments using a vectorette‐PCR‐based technique and demonstrated that it consisted of 12q13‐q15 sequences fused to DNA sequences derived from 14q23‐24 and most likely represented the translocation junction on der(14) in LM‐30.1/SV40 cells. Our studies strongly suggest that we have identified and isolated the uterine leiomyoma cluster region of chromosome 12 breakpoints, which we designate ULCR12, and molecularly cloned and characterized the der(14) translocation junction in cells derived from a uterine leiomyoma carrying the frequently observed t(12;14)(q15;q24).
Genetic alterations in localized prostate cancer: Identification of a common region of deletion on chromosome arm 18q
Authors: Latil Alain , Baron Jean‐Christophe , Cussenot Olivier , Fournier Georges , Soussi Thierry , Boccon‐Gibod Laurent , Duc Alain Le , Rouëssé Jacques , Lidereau Rosette 
Published: February 2007

AbstractAccumulation of mutations in oncogenes and tumor suppressor genes transforms a normal cell into a malignant cell by allowing it to escape from normal control of growth. In prostate tumorigenesis, the current model envisages specific mutations of the TP53 tumor suppressor gene and loss of loci, detected by loss of heterozygosity (LOH), on chromosome arms 8p, 10q, 16q, and 18q. In order to determine if alterations frequently found in other adenocarcinomas (breast, ovarian, gastric, colorectal), including losses of genetic material from chromosome arms 1p, 3p, 7q, 8p, 11p, 17p, 17q, and 18q, are also involved in prostate cancer, we examined 20 localized early‐stage prostate tumors. We detected no mutations of the TP53 gene. Allelic losses were found from 7q (33%), 8p (50%), 10q (20%), and 18q (33%). Furthermore, as the first step toward isolating tumor suppressor genes on 18q, we used six polymorphic markers and identified a small common deleted region between the chromosome 18 centromere and the D18S19 locus.
Comparative genomic hybridization, allelic imbalance, and fluorescence in situ hybridization on chromosome 8 in prostate cancer
Authors: Cher Michael L. , Macgrogan Donal , Bookstein Robert , Brown James A. , Jenkins Robert B. , Jensen Ronald H. 
Published: February 2007

AbstractDue to problems with primary tumor cell culture, conventional cytogenetics has yielded little insightful information on chromosomal alterations in prostate cancer. The primary aim of this study was to define the ability of comparative genomic hybridization (CGH) to detect and map genetic deletions in prostate tumors. A secondary aim was to apply multiple assays to individual tumors as a means of deciphering the mechanisms of genetic alterations in prostate cancer. CGH results were compared with allelic imbalance measurements at 29 distinct loci on chromosome 8 in 18 specimens (17 malignant and 1 benign). CGH detected no changes in cases where all informative PCR/RFLP loci were retained and detected all p arm deletions consisting of at least two loci. We estimate that in this study, the smallest deletions detected by CGH were approximately 20‐30 cM. Physical mapping of subchromosomal arm deletions by CGH correlated well with allelic imbalance mapping by PCR/RFLP: The data agreed at 88% of loci on 8p and 92% of loci on 8q. Fluorescence in situ hybridization (FISH) with multiple centromere probes and DNA content flow cytometry (FCM) also was performed on selected specimens. FISH revealed two cases of chromosome 8 aneusomy. In these two cases and three others, CGH showed simultaneous p arm deletion and q arm gain, suggesting isochromosome 8q formation. Together, these data suggested that simple chromosomal aberrations were responsible for allelic losses on 8p and allelic gains on 8q in a significant number of prostate tumors. We also used CGH to examine relative DNA sequence copy number throughout the genome. Changes frequently associated with 8p loss include gains of 8q and losses of 13q, 16p, 16q, 17p, 17q, 20q, and Y. Cases with 8p loss exhibited five times the number of alterations as did cases without 8p loss.
Delineation of two distinct deleted regions on chromosome 9 in human non‐melanoma skin cancers
Authors: Quinn Anthony G. , Sikkink Stephen , Rees Jonathan L. 
Published: February 2007

AbstractThe mapping of the naevoid basal cell carcinoma syndrome (NBCCS) and the Ferguson‐Smith syndrome to the same region on chromosome arm 9q has led to speculation that the two conditions may reflect different mutations within the same gene. Loss of heterozygosity of 9q alleles in both familial and sporadic basal cell carcinomas (BCCs) suggests that the NBCCS gene on 9q is acting as a tumour suppressor gene. Although LOH of 9q markers has not been studied in squamous cell neoplasms from patients with the Ferguson‐Smith syndrome, chromosome 9 allele loss has been reported in sporadic squamous cell carcinomas (SCCs) of the skin. In order to characterise further the deleted region on chromosome 9 in BCCs and SCCs of the skin we have examined a series of non‐melanoma skin cancers using a panel of highly informative microsatellite markers. Forty‐four BCCs and 49 SCCs were studied. Loss of heterozygosity of one or more 9q markers was seen in 33 of the 44 BCCs. Only 4 of the 33 BCCs with 9q loss showed loss of 9p markers. Twenty‐two BCCs showed loss of all informative 9q markers. Partial or interstitial 9q deletions were seen in 5 BCCs, and in 3 of these 5 BCCs the breakpoint occurred within the currently defined NBCCS locus. Chromosome 9 loss was seen in 16 of 49 SCCs. In contrast to the low frequency of 9p loss in BCCs, LOH of 9p markers was a common finding in SCCs, occurring in 15 of the 16 SCCs with chromosome 9 loss. In 5 SCCs 9p loss occurred with retention of 9q alleles. The different patterns of chromosome 9 loss in BCCs and SCCs and the failure to detect loss of markers at the Ferguson‐Smith/NBCCS locus in 5 of 7 informative SCCs with partial chromosome 9 losses suggest that the targets for allelic deletion on chromosome 9 in BCCs and SCCs are different.
Molecular cloning of a t(11; 14)(q13;q32) translocation breakpoint centromeric to the BCLI‐MTC
Authors: Galiègue‐Zouitina Sylvie , Collyn‐d'Hooghe Maud , Denis Claude , Mainardi Anne , Hildebrand Marie‐Paule , Tilly Hervé , Bastard Christian , Kerckaert Jean‐Pierre 
Published: February 2007

AbstractIn B‐cell malignancies, the t(11;14)(q13;q32) at the 11q13 BCLI locus is characterized by a scattering of breakpoint sites along a 100 kb genomic region, between the BCLI major translocation cluster (MTC) and the PRADI (also termed cyclin DI or CCNDI) gene. Recently, the 11q13 breakpoint region was extended on both sides, centromeric to the MTC and telomeric to PRADI. We report here the molecular cloning of a new t(11;14) breakpoint site, 20 kb centromeric to the MTC, from a patient with prolymphocytic leukemia. We subcloned a non‐repetitive DNA fragment near the breakpoint and mapped this new 11q13 probe (pHOIIc) relative to already identified breakpoint sites, using long‐ and short‐range physical mapping within the BCLI locus. Rearrangements in the BCLI locus are associated with deregulation of the PRADI gene, which is often overexpressed, particularly in mantle‐cell malignancies. The detectable but weak PRADI expression in the case we present suggests that this breakpoint centromeric to the MTC still lies inside the BCLI locus boundaries. We think that attention should be focused on this region centromeric to the BCLI‐MTC, where the investigation of previously unidentified translocations may increase understanding of the PRADI gene deregulation in t(11;14) associated pathologies.
Fusion of the FUS gene with ERG in acute myeloid leukemia with t(16;21)(p11;q22)
Authors: Panagopoulos Ioannis , Åman Pierre , Fioretos Thoas , Höglund Mattias , Johansson Bertil , Mandahl Nils , Heim Sverre , Behrendtz Mikael , Mitelman Felix 
Published: February 2007

AbstractIt has been shown that the gene ERG in 21q22 is rearranged in the the t(16;21)(p11;q22) associated with acute myeloid leukemia (AML). ERG is a member of the ETS gene family and is fused with EWS in a subset of Ewing's sarcomas. EWS in 22q12 has a very high homology with FUS (also called TLS) in 16p11; the latter gene is rearranged in the t(12;16)(q13;p11) that characterizes myxoid liposarcoma. To investigate whether FUS is involved in the t(16;21) of AML, we used the Southern blot technique and polymerase chain reaction (PCR) to examine the bone marrow of a 3‐year‐old boy with a t(16;21)(p11;q22)‐positive AML. Hybridization of Southern blot filters containing digested DNA with probes for FUS and ERG showed both germline and aberrant fragments. Using specific primers for the 5′ part of FUS and the 3′ part of ERG, we amplified a 4.4 kb genomic FUS/ERG DNA fragment from the leukemic sample. In a second PCR experiment, in which we used primers upstream of the 5′ part of ERG and downstream of the 3′ part of FUS, a 5.6 kb fragment was amplified. Blotting and hybridization with specific probes for FUS and ERG revealed that the amplified fragments consisted of FUS/ERG and ERG/FUS hybrid DNA. Both PCR fragments, when used as probes, detected germline ERG and FUS as well as aberrant fragments on Southern blot filters. The results suggest that the t(16;21) in AML leads to rearrangement and fusion of the FUS and ERG genes. This is the first example in which two genes, each known to recombine with other genes in different solid tumor types (FUS in myxoid liposarcoma and ERG in Ewing's sarcoma), are fused in a hematologic malignancy.
Chromosome aberrations in choroid plexus papillomas
Authors: Donovan Michael J. , Yunis Eduardo J. , Degirolami Umberto , Fletcher Jonathan A. , Schofield Deborah E. 
Published: February 2007

AbstractKaryotypic data on choroid plexus papillomas are scarce and, to date, have revealed no consistent aberrations. We karyotyped a choroid plexus papilloma which was characterized by a stemline of 52,XX, + 7, + 11, + 12, + 12, + 15, + 18. Additional copies of chromosomes 16, 17, and 20 were also observed in a significant proportion of the metaphase cells analyzed. Based upon this index case, we retrospectively analyzed eight additional choroid plexus papillomas by fluorescence in situ hybridization by using pericentromeric probes to chromosomes 7, 11, 12, 15, 16, 17, 18, and 20. Extra hybridization signals were observed in five of the eight cases examined. All five cases had extra signals with the chromosome 7 probe, four cases had extra signals with the chromosome 12 probe, and three cases had extra signals with the chromosome 15, 17, and 18 probes. The overall DNA content of these same cases (as determined by image analysis) suggests that gains of additional chromosomes other than those examined may be present.
Clonal structural chromosome aberrations in fibrous dysplasia
Authors: Mertens Fredrik , Albert Auxilium , Heim Sverre , Lindholm Johan , Brosjö Otte , Mitelman Felix , Mandahl Nils 
Published: February 2007

AbstractCytogenetic analysis of short‐term cultures from a case of monostotic fibrous dysplasia in a 14‐year‐old girl revealed multiple clonal structural rearrangements with evidence of clonal evolution. The karyotype was 46,XX,del(3)(q27),add(10)(q22), add(12)(p13)/46,idem,t(3;8)(p21;q13),add(10)(q26),der(15)del(15)(q15q22)ins(15;?)(q15;?)/46,idem,‐X, + 2,t(3;8),add(10),der(15). The finding of clonal structural aberrations suggests that fibrous dysplasia is a neoplastic lesion which develops as the result of somatic mutations.
Enhancement of activity of the primary visual cortex during processing of emotional stimuli as measured with event‐related functional near‐infrared spectroscopy and event‐related potentials
Authors: Herrmann Martin J. , Huter Theresa , Plichta Michael M. , Ehlis Ann‐Christine , Alpers Georg W. , Mühlberger Andreas , Fallgatter Andreas J. 
Published: February 2007

AbstractIn this study we investigated whether event‐related near‐infrared spectroscopy (NIRS) is suitable to measure changes in brain activation of the occipital cortex modulated by the emotional content of the visual stimuli. As we found in a previous pilot study that only positive but not negative stimuli differ from neutral stimuli (with respect to oxygenated haemoglobin), we now measured the event‐related EEG potentials and NIRS simultaneously during the same session. Thereby, we could evaluate whether the subjects (n = 16) processed the positive as well as the negative emotional stimuli in a similar way. During the task, the subjects passively viewed positive, negative, and neutral emotional pictures (40 presentations were shown in each category, and pictures were taken from the International Affective Picture System, IAPS). The stimuli were presented for 3 s in a randomized order (with a mean of 3 s interstimulus interval). During the task, we measured the event‐related EEG potentials over the electrode positions O1, Oz, O2, and Pz and the changes of oxygenated and deoxygenated haemoglobin by multichannel NIRS over the occipital cortex. The EEG results clearly show an increased early posterior negativity over the occipital cortex for both positive as well as negative stimuli compared to neutral. The results for the NIRS measurement were less clear. Although positive as well as negative stimuli lead to significantly higher decrease in deoxygenated haemoglobin than neutral stimuli, this was not found for the oxygenated haemoglobin. Hum Brain Mapp 29:28–35, 2008. © 2007 Wiley‐Liss, Inc.
Ultrastructural contributions to the study of morphological differentiation in malignant mixed (pleomorphic) tumors of salivary gland
Authors: Dardick Irving , Hardie John , Thomas M. Jane , Peter Nostrand A. W. Van 
Published: February 2007

AbstractUltrastructural studies of pleomorphic adenoma have shown a coordinated differentiation of luminal epithelial and modified myoepithelial cells with the latter cells related to processes resulting in the myxochondroid stroma. Five examples of various histologic types of malignant mixed tumor of parotid origin were examined by electron microscopy to see if underlying patterns of tumor cell differentiation and organization matched those of pleomorphic adenoma. Whether they were intracapsular tumors (with or without identifiable pleomorphic adenoma), carcinomas ex pleomorphic adenoma, or a true malignant mixed tumor, all lesions had cell types and organizations either identical to those in pleomorphic adenoma or, as in less‐differentiated examples, displayed features suggesting origin from luminal cells, myoepithelial cells, or both. Even the chondroid cells in the true malignant mixed tumor expressed ultrastructural features indicating their epithelial derivation. On the basis of these findings, some alterations to the classification and terminology of the subtypes of malignant mixed tumor are suggested.
Evaluation of the frontonasal duct in frontal sinus fractures
Authors: Heller Elliot M. , Jacobs Joseph B. , Holliday Roy A. 
Published: February 2007

AbstractSuccessful management of frontal sinus fractures depends on correct identification of structural pathology, which may lead to inflammatory complications. Obstruction of the frontonasal duct is a significant factor predisposing to such complications and its evaluation is thus critical in the management of these fractures. Specific radiographic CT criteria and an intraoperative dye irrigation test are presented to determine the likelihood of frontonasal duct injury. Eighteen cases of frontal sinus fractures are reviewed, which have been treated based on these principles. A scheme is presented outlining the management of frontal sinus trauma using these methods.
Invasive histoplasmosis of the mandible
Authors: Dobleman Thomas J. , Scher Natan , Goldman Michael , Doot Shane 
Published: February 2007

AbstractWe present a case of an 82‐year‐old man with a 1‐year history of a slowly enlarging, nontender, exophytic oral mucosal lesion with focal ulceration of the right alveolar ridge of the mandible associated with cortical bone resorption. Two consecutive biopsies revealed histoplasma capsulatum. A review of the literature confirms that this is an uncommon manifestation of this fungal disease, but must be considered in the differential diagnosis of an oral ulcerative lesion.
Effects of general anesthesia on the human blink reflex
Authors: Marelli Russell A. , Hillel Allen D. 
Published: February 2007

AbstractThe blink reflex was studied in 10 patients undergoing elective procedures under general anesthesia. Anesthetic agents were isoflurane, halothane, nitrous oxide, methohexital, and thiopental in various combinations. At induction, blink reflexes were diminished by low‐dose thiopental (1‐1.5 mg/kg) and abolished by high‐dose thiopental (4‐8 mg/kg) and methohexital (1.5 mg/ kg). Blink reflexes were absent during halogenated vo/itile inhalational anesthesia and did not return until patients were in the recovery room, well after end‐tidal anesthetic levels were zero by mass spectroscopy. Recovery of consciousness and the ability to blink on command often preceded return of any blink reflex activity, indicating that the blink reflex is not useful as a postoperative test of facial nerve function in the operating room after anesthesia. In six patients, blink reflexes were still diminished 2‐3 hours after cessation of anesthesia, at a time when patients were fully oriented and corneal and eyelid reflexes were clinically normal. This finding suggests that the blink reflex might be a sensitive test of subtle CNS dysfunction after inhalational anesthesia and potentially could serve as a useful objective indicator of recovery from anesthesia for outpatient surgery.
Postanginal sepsis
Authors: Shapiro Jo , Fried Marvin P. , Strome Marshall 
Published: February 2007

AbstractPostanginal sepsis is a septicemia resulting from an antecedent pharyngitis that causes an internal jugular vein thrombophlebitis. Because of the severity of the disease and the difficulty in its diagnosis, familiarity with all aspects of the disease is essential. We present three cases and review the literature on postanginal sepsis. The clinical course of the disease is described and its evaluation and treatment are outlined.