bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cytogenetics of papillary renal cell tumors
Authors: Kovacs Gyula , Fuzesi Laszlo , Emanuel Angela , Kung Hsiang‐Fu 
Published: February 2007

AbstractChromosome aberrations were determined in short‐term cultures of 18 papillary renal cell tumors, as well as in the cell line ACHN, and the results were evaluated together with 20 previously published cases. We found that chromosomes 7, 17, and 16 and the Y chromosome were specifically involved in the karyotype changes in this tumor type. A combination of tri‐ or tetrasomy 7 and trisomy 17, as the only autosomal karyotype changes, marks benign papillary renal cell adenomas (ten cases). Malignant papillary renal cell carcinomas (29 cases) were characterized by additional trisomies: trisomy 16 occurred in 20 tumors, and trisomy 12 and 20 in 8 tumors each. Loss of the Y chromosome was observed in 7 of 9 benign and in 23 of 25 malignant tumors that developed in males. None of the papillary renal cell adenomas or carcinomas showed a loss of 3p or gain of a 5q segment, both of which are characteristic of common non‐papillary renal cell carcinomas.
Cytogenetics of renal cell carcinomas associated with von hippel‐Lindau disease
Authors: Kovacs Gyula , Emanuel Angela , Neumann Hartmut P. M. , Kung Hsiang‐Fu 
Published: February 2007

AbstractTo establish the chromosome pattern, we have analyzed short‐term cultures of 24 renal cell carcinomas (RCC) from four patients with von Hippel‐Lindau disease (VHL). We evaluated the results together with those for 16 RCCs from two VHL patients karyotyped previously in our laboratory and those of 6 tumors published by others. In all 46 RCCs, the cells had lost the shortest overlapping region of the 3p 13‐pter chromosome segment. The rearrangement of 3p was the only karyotype change in 20 tumors. In more than 50% of the tumors, a gain of the shortest overlapping region of the 5q22‐qter segment was detected. Comparative analysis showed that the chromosome aberrations in RCCs associated with VHL are similar to those found in sporadic RCCs. These results indicate that non‐papillary sporadic and VHL‐RCCs have common genetic mechanisms that result in the loss of the 3p 13‐pter region containing one or more putative suppressor genes.
A complex chromosome rearrangement forms the BCR‐ABL fusion gene in leukemic cells with a normal karyotype
Authors: Morris Christine , Kennedy Martin , Heisterkamp Nora , Columbano‐Green Letizia , Romeril Kenneth , Groffen John , Fitzgerald Peter 
Published: February 2007

AbstractChromosome in situ hybridization studies showed that the normal karyotype of leukemic cells from a patient with Ph1‐ negative, BCR‐positive chronic myeloid leukemia (CML) concealed a complex t(9;22;20)(q34;q 11;p13). The close association of 5′‐BCR and 3′‐ABL was demonstrated by field inversion gel electrophoresis, and in situ hybridization showed that BCR‐ABL was located on the short arm of chromosome 20. Our findings further indicate that chromosome rearrangement is the cause of BCR‐ABL gene fusion in leukemic cells that show a normal karyotype. Results from in situ hybridization studies were consistent with formation of the t(9;22;20) by a two step chromosomal rearrangement, but field inversion gel electrophoresis results indicated a more complex rearrangement.
Involvement of the RAFI locus, at band 3p25, in the 3p deletion of small‐cell lung cancer
Authors: Graziano Stephen L. , Pfeifer Andrea M. , Testa Joseph R. , Mark George E. , Johnson Bruce E. , Hallinan Edward J. , Pettengill Olive S. , Sorenson George D. , Tatum Arthur H. , Brauch Hiltrud , Zbar Berton , Flejter Wendy L. , Ehrlich Garth D. , Poiesz Bernard J. 
Published: February 2007

AbstractThe ability to establish long‐term cell lines of small‐cell lung cancer (SCLC) has provided an in vitro model for the disease. We report on the characterization of 10 new human SCLC cell lines established from 34 cytopathologically positive specimens. Based on morphologic and biochemical characterization, growth properties, and expression of MYC and neuroendocrine properties, eight cell lines were categorized as “classic” and two cell lines as “variant.” Cytogenetic examination revealed loss of all or part of 3p in all nine SCLC cell lines analyzed. The smallest deletion in common was found at 3p21–3p25. Restriction fragment length polymorphism (RFLP) analyses with probes for 3p were performed for correlation with karyotypic data and supported the cytogenetic findings. In 21 SCLC specimens (cell lines and tumor tissue) with normal DNA, used for comparison, we observed loss of heterozygosity at RAFI (3p25) in ten of ten informative pairs by using two RFLPs from the RAFI locus. In addition, loss of heterozygosity was noted in nine of 10 pairs examined with DNF 15S2 (3p21) and four of four with D3S3 (3p 14). Analysis of cell lines and tumor specimens that lacked paired normal tissue showed a homozygous pattern with the RAFI probes in all 18 cases. Northern blots revealed significant expression of RAFI in all cell lines tested. The transcript size was normal. The cytogenetic and RFLP data suggest that the RAFI locus at 3p25 is involved in the chromosomal deletion of SCLC.
Cytogenetics of Synovial Sarcoma: Presentation of Ten New Cases and Review of the Literature
Authors: Limon J. , Mrozek K. , Mandant N. , Nedoszytko B. , Verhest A. , Rys J. , Niezabitowski A. , Babinska M. , Nosek H. , Ochalek T. , Kopacz A. , Willén H. , Rydholm A. , Heim S. , Mitelman F. 
Published: February 2007

AbstractCytogenetic study of five biphasic and five monophasic synovial sarcomas revealed the specific abnormality t(X; 18) (p 11;q 11 ) in eight cases and t(X;15;18) (p11;q15;q111) and t(X;7) (q11–12;q32) in one case each. Additional, secondary aberrations were present in eight of these tumors. By combining our data with information on previously published cytogenetically abnormal synovial sarcomas, we were able to evaluate 32 tumor samples from 29 patients. The modal chromosome number was pseudodiploid or near diploid in 26 of the 32 tumors. A t(X; 18) was present in 21 of 29 cases (72%). Complex translocations involving chromosomes X and 18 and another autosome were present in five cases, and one displayed a t(5; 18). There was no visible rearrangement of chromosome bands Xp 11 or 18q 11 in only 2 of the 32 synovial sarcomas. Half of the primary tumors (6 of 12) had the X; 18‐translocation as the sole abnormality. Of the remaining 20 specimens from recurrent or metastatic tumors (in three cases two tumors could be analyzed), only one had t(X;18) as the sole change. The secondary aberrations in cases exhibiting clonal evolution were also generally more extensive in the metastatic and recurrent than in the primary sarcomas (five additional aberrations per case, compared with two). Chromosomes 1 and 12 were the chromosomes most frequently (one fourth of the cases) involved in additional structural changes, but with several different breakpoints. No differences were identified between the karyotypic profiles of monophasic and biphasic synovial sarcomas.
Fine Mapping of Probes in the Adenomatous Polyposis Coli Region of Chromosome 5 by In Situ Hybridization
Authors: Williams Sarah V. , Jones Tania A. , Cottrell Sally , Zehetner Günther , Varesco Liliana , Ward Tristan , Thomas Huw , Lawson Paul A. , Solomon Ellen , Bodmer Walter F. , Frischauf Anna‐Marie , Sheer Denise 
Published: February 2007

AbstractThe gene for adenomatous polyposis coli has been localized to 5q21–22. We have mapped six probes from this region using isotopic or nonisotopic in situ hybridization. Using tritium‐labeled probes we localized 11227 (D5S37) to 5q 14–15 and ECB27 (D5S98) to 5q21. Following hybridization with biotin‐labeled probes, the positions of signals along the chromosomes were measured as fractional length relative to the length of the chromosome arm from centromere to qter (FLcen‐qter). Ninety‐five percent confidence limits, compared with standard karyotypes, provided the corresponding band localization. By this method we localized C11 p 11 (D5S71) to FLcen‐qter 0.407–0.452 (5q21.1–21.3), ECB27 to FLcen‐qter 0.426–0.473 (5q21.3), YN5.48 (D5S8I) to FLcen‐qter 0.459–0.496 (5q21.3–22.2), and ECBI34 (D5S97) to FLcen‐qter 0.509–0.533 (5q22.3–23.1). ECB220 had three sites of hybridization, a major site at FLcen‐qter 0.460–0.492 (5q21.3–22.1) and minor sites at FLcen‐qter 0.299–0.339 (5q 14.3–15) and FLcen‐qter 0.629–0.691 (5q23.3–31.2). We have shown that the chromosome 5 breakpoint in a t(5;15) translocation from a patient with Gardner's syndrome (GM03314) is between C11 p11 and ECB27. Linkage data are presented suggesting that ECB27 is located on the same side of the APC locus as 11227. These and published results including data on several constitutional deletions (M, SD, and brothers PW and ND) give a probable order of [cen] ‐ [11227, proximal SD breakpoint] ‐ [C111 p11] ‐ [proximal PW/ND, M breakpoint(s), GMO33 14 breakpoint] ‐ [ECB27] ‐ [APC] ‐ [YN5.48] ‐[distal PW/ND breakpoint] ‐ [ECB134] ‐ [distal M breakpoint] ‐ [qter]. The major site of ECB220 appears to be between ECB27 and the distal PW/ND breakpoint; the distal SD breakpoint is distal to YN5.48.
Molecular Definition of Interstitial Deletions of Chromosome 13 in Leukemic Cells
Authors: Morris Christine M. , Cochrane Jill M. , Benjes Suzanne M. , Crossen Peter E. , Fitzgerald Peter H. 
Published: February 2007

AbstractThree patients with leukemia and one with a myeloproliferative disorder carried an interstitial deletion of chromosome 13, del(13)(q12q14), in leukemic cells. Proximal and distal breakpoints of the deleted segment were characterized by using DMA restriction fragment length polymorphisms of chromosome 13 supplemented by quantitative densitometry of hybridization signals to determine the copy number of individual loci. Both proximal and distal breakpoints varied between patients, and it is unlikely that a significant hybrid gene was formed by rejoining at the breakpoint junctions. The retinoblastoma gene was encompassed by the deleted segment in all four patients.
Cytogenetic abnormalities in renal oncocytic neoplasms
Authors: Dobin Sheila M. , Harris Charles P. , Peterson Robert F. , Speights V. O. , Reynolds James A. , Scott Coffield K. , Klugo Richard C. 
Published: February 2007

AbstractWe have performed cytogenetic studies on five renal oncocytic neoplasms (three grade 2 tumors and two grade 1 tumors) identified histologically by light microscopy. One grade 1 tumor failed to produce mitotic cells. The other four tumors exhibited both normal and abnormal cell lines. Numerical abnormalities were found in both the single grade 1 and two of the grade 2 tumors whereas structural abnormalities were limited to grade 2 tumors. Aneuploidy of chromosome 12 was observed in both grade 1 and 2 tumors. Grade 2 tumors showed more extensive numerical change than the grade 1 tumors. Abnormalities of chromosome 3 characteristic of renal cell carcinoma were not found in any tumor in this series. A combination of C‐banding and HaeIII endonuclease banding was used to identify an ambiguous marker. In our four cases and in the cases previously reported, loss of a sex chromosome, abnormalities of chromosomes 1 and 22, and trisomy 12 are findings most often observed in renal oncocytoma.
Chromosome aberrations in an alpha‐fetoprotein‐producing hepatoblastoma
Authors: Annerén Göran , Nordlinder Hans , Hedborg Fredrik 
Published: February 2007

AbstractThe cytogenetic findings of an alpha‐fetoprotein (AFP)‐producing hepatoblastoma in a 14‐month‐old girl are reported. Ten of 36 tumor cells were chromosomally abnormal, yielding the composite karyotype 47,XX,2q+, t(3;5)(p25;q31),dup(4)(q12q26), + 20. Three of the chromosomal abnormalities (2q +, break at 4q12, + 20) have been reported previously and might be of pathogenetic significance.
Cytogenetic analysis of renal angiomyolipoma
Authors: Debiec‐Rychter Maria , Saryusz‐Wolska Hanna , Salagierski Marek 
Published: February 2007

AbstractChromosome analysis of a benign, unilateral, renal angiomyolipoma revealed the karyotype 44,XX, –8, –12, –14, –21, + der (8q14q), + der(12)(12pter → 12q14‐15:: 12q24 → 12q14–15::21q21 → 21 qter). This indicates that structural changes of 12q13‐15, which are so frequently observed in the common malignant and benign lipogenic tumors, may also occur in the rarer variants of these neoplasms.
The 11q23 breakpoint in acute leukemia with t(11;19)(q23;p13) is distal to those of t(4;11), t(6;11) and t(9;11)
Authors: Cherif Dorra , Der‐Sarkissian Hera , Derré Josette , Berger Roland , Tokino Takashi , Nakamura Yusuke 
Published: February 2007

AbstractThirteen cosmid probes were mapped on the long arm of chromosome 11 between 11q22 and 11q24 by nonradioactive in situ hybridization. Starting with these localizations and those of other probes mapped to 11q23, four acute leukemias with translocations involving 11q23 were studied with the same method. The translocation breakpoints of the t(4;11)(q21;q23), t(6;11)(q27;q23), t(9;11)(p21–p22;q23), and t(11;19)(q23;p13) were confirmed to be distal to CD3D. The probe cC11 1–304 was proximal to the t(11;19) breakpoint while distal to the breakpoints of the other rearrangements. In view of the diversity of chromosomal abnormalities involving band 11q23, our finding extends the molecular heterogeneity of the breakpoint localization in leukemias with rearrangements involving 11q23.
t(11;18)(q21;q21.1): A recurring translocation in lymphomas of mucosa‐associated lymphoid tissue (malt)?
Authors: Horsman Douglas , Gascoyne Randy , Coupland Robert , Klasa Richard 
Published: February 2007

AbstractA distinct subtype of extranodal malignant lymphoma derived from mucosa‐associated lymphoid tissues (MALT) has recently been defined. We have detected an acquired t(11;18)(q21;q21.1) in a patient with a MALT lymphoma of the stomach. This translocation has previously been described in two other patients with extranodal lymphoma. The BCL2 oncogene, which is located at band 18q21.3 and is activated by the t(14;18)(q32;q21) in follicular lymphoma, was not rearranged in this case. This newly identified t(11;18) may be a recurring translocation specifically associated with MALT lymphomas. Genes located at the breakpoint sites of chromosome 11 and/or chromosome 18 may be crucial to the pathogenesis of this type of malignant lymphoma.
Two malignant peripheral primitive neuroepithelial tumor cell lines established from consecutive samples of one patient: Characterization and cytogenetic analysis
Authors: Kees Ursula R. , Ford Jette , Willoughby Michael L. N. , Rudduck Christina , Margaret Garson O. , Spagnolo Dominic , Papadimitriou John 
Published: February 2007

AbstractA 6‐year‐old girl presented with a tumor of the right shoulder involving bone, adjacent soft tissue, and regional lymph nodes. The conventional histologic diagnosis was ambiguous, initially suggesting lymphoma. After relapse on lymphoma therapy, reevaluation with additional multiple diagnostic techniques performed on the biopsy tissue and on two cell lines derived from the biopsies established the diagnosis of a primitive neuroepithelial tumor of bone and soft tissue. This was strongly supported by 1) focal rosette formation by the tumor cells and positive immunostaining for neuron‐specific enolase and synaptophysin, with absent staining for leukocyte common antigen; 2) at the ultrastructural level, formation of cellular processes containing microtubules, a paucity of neurosecretory granules, absence of synaptic junctions, formation of long “intermediate” junctions between cells, and, in culture, widespread development of rosettes; 3) marked surface positivity to W 6/32 and negativity to HSAN 1.2 antibodies; and 4) elevated expression of MYC and lack of overexpression of MYCN oncogenes. Numerical and structural abnormalities were present in the karyotype, but the expected t(11;22)(q24;q12) was not present in the tumorinvolved marrow or in either of the established tumor cell lines, although there was an interstitial deletion of 11q involving breakpoints in q21 and q23.
Ordering of six polymorphic dna markers important in the delineation of 3p deletions in neoplasia
Authors: Heppell‐Parton Amanda C. , Rabbitts Pamela H. , Albertson Donna G. 
Published: February 2007

AbstractUsing fluorescence in situ hybridisation (FISH) the chromosomal location and relative order of six human chromosome 3 probes has been determined. The sensitivity of the technique has enabled the relative mapping of probes carrying inserts as small as 500 basepairs (bp), thus allowing the following proximal–distal probe order to be proposed: D3S30 (3p13–14), D3S4 (3p13–14), D3S2 (distal 3p14), D3S32 (3p21), D3S48E (3p21–23), and D3S11 (3p22–23). These data combined with the deletion mapping data of other researchers raise the possibility that the loss of more than one region of the short arm of chromosome 3 may be important in the development of small cell lung cancer.
Retinoblastoma gene deletions in b‐cell chronic lymphocytic leukemia
Authors: Liu Yie , Grandér Dan , Einhorn Stefan , Söderhäll Stefan , Juliusson Gunnar , Gahrton Gösta 
Published: February 2007

AbstractApproximately 10% of B‐cell chronic lymphocytic leukemia (B‐CLL) cases have structural chromosomal aberrations involving band 13q14. To evaluate a possible role of RB1 gene deletions in B‐CLL we investigated the malignant cells of 27 patients by molecular genetic and cytogenetic techniques. Four of the cases had chromosomal aberrations that involved 13q14 (including one case with a 13q14 deletion that was observed in a single metaphase cell), and 11 had other chromosomal abnormalities, whereas the malignant cells of 12 patients were either cytogenetically normal or failed to divide in vitro. Eight patients (30%) were found to have hemizygous deletions of the RB1 gene. These cases included all four patients with chromosomal changes at 13q14, but also three patients without chromosome abnormalities and one case with a chromosomal aberration not involving 13q. The deletions were interstitial in all cases but one, as defined by probes located centromeric and telomeric of the RB1 locus. Inactivation of RB1 may thus be a significant event in the development of some B‐CLL clones.
Trisomy 8 in philadelphia chromosome (ph1)‐negative cells in the course of ph1‐positive chronic myelocytic leukemia
Authors: Casali Monica , Truglio Fabrizio , Maserati Emanuela , Pasquali Francesco , Milone Giuseppe , Raimondo Francesco Di , Parrinello Gisella 
Published: February 2007

AbstractA female patient with chronic myelocytic leukemia (CML) in chronic phase after busulfan and interferon treatment had four different cell lines in her bone marrow. In addition to cells with a normal karyotype there were cells with the Philadelphia chromosome (Ph1), cells with trisomy 8 and a Ph1, and cells with trisomy 8 as the sole anomaly.
Molecular confirmation of BCR‐ABL fusion in a chronic myeloid leukemia with a complex translocation involving chromosomes 9, 15, and 22
Authors: Tharapel Sugandhi A. , Vnencak‐Jones Cindy L. , Whitlock James A. , Jain Rajiv 
Published: February 2007

AbstractWe performed molecular studies to resolve the status of BCR and ABL in the bone marrow cells of a CML patient with a Ph chromosome resulting from a complex translocation involving chromosomes 9, 15, and 22. DNA digestion with BamHL, Hindlll, and Bglll, followed by hybridization to a bcr‐specific 32P‐labeled probe, showed a rearranged banding pattern confirming the involvement of the bcr, locus in the translocation. Furthermore, total cellular RNA isolated from the marrow was subjected to reverse transcription into cDNA and amplified by PCR with primers specific for BCR‐ABL fusion cDNA. The amplified products obtained from this patient and from a CML patient with the standard t(9;22) were both of the expected length of approximately 317 bp.
Improved technique for short‐term culture and cytogenetic analysis of human breast cancer
Authors: Pandis Nikos , Heim Sverre , Bardi Georgia , Limon Janusz , Mandahl Nils , Mitelman Felix 
Published: February 2007

AbstractVarious growth media and procedures for tissue disaggregation and culturing were tested with regard to cell attachment, the type of cells to grow out, and the emergence of cytogenetically abnormal clones in cultures of 20 primary breast carcinomas. Clonal chromosome abnormalities were detected in 16 cases (80%). Our findings allow us to suggest a series of modifications of existing culturing and chromosome preparation techniques for breast cancer cytogenetic analysis. The improvements include: (1) combined mechanical and enzymatic disaggregation of the tumor samples, (2) initiation of short‐term cultures in plastic flasks that have a Primaria‐modified tissue culture surface or have been coated with Vitrogen 100, (3) use of serum‐free growth medium, CDM‐5, but with temporary (24 hours) enrichment with 20% FBS if rapid cell attachment is not achieved, (4) partial and sequential harvesting of the cultures, and (5) use of minimal volumes of hypotonic and fixative solutions during harvesting.
Molecular characterization of a large homozygous deletion in the small cell lung cancer cell line U2020: A strategy for cloning the putative tumor suppressor gene
Authors: Latif Farida , Tory Kalman , Modi William S. , Graziano Stephen L. , Gamble Gary , Douglas Jenny , Heppell‐Parton Amanda C. , Rabbitts Pamela H. , Zbar Berton , Lerman Michael I. 
Published: February 2007

AbstractHomozygous deletions are instrumental in the detection and cloning of tumor suppressor genes. We report the isolation and characterization of 39 new single‐copy probes saturating a submicroscopic homozygous deletion detected in the DNA of the small cell lung cancer (SCLC) cell line U2020. The probes were selected from a large collection, covering the entire length of chromosome 3 with an estimated average spacing of 100–150 kb. Based on the number of probes in the deletion and the probe density, the size of the U2020 submicroscopic deletion was estimated to be in the range of 4–7 megabases. Among the deleted loci, 17 showed conservation across species, probably representing potential coding gene sequences. By genetic and physical mapping of a large randomly chosen fraction of the deleted probes, we defined the location of the U2020 deletion within chromosome band 3p 12. Our cloning strategy is based on narrowing the region of interest by eliminating probes that retain heterozygosity in SCLC samples, thus selecting for probes in the region of common loss.
Molecular analysis of 12 patients with the t(8;2l) translocation and M2 acute myelogenous leukemia
Authors: Yaspo Marie‐Laure , Theophile Didier , Aurias Alain , Créte Nathalie , Créau‐Goldberg Nicole , Bastard Christian , Suberville Anne‐Marie , Valensi Françoise , Viguier Franck , Berger Roland , Sinet Pierre‐Marie , Delabar Jean‐Maurice 
Published: February 2007

AbstractThe t(8;21)(q22;q22) is a nonrandom cytogenetic abnormality associated with acute myelogenous leukemia of the M2 subtype (FAB classification). The 8q‐ and 21q+ derivative chromosomes have previously been isolated in somatic cell hybrids and used to map the anonymous sequences D21S65 and D21S17, which were proximal and distal, respectively, to the breakpoint on chromosome 21. DNA from a series of 12 t(8;21) patients and 7 controls was analyzed by pulsed field gel electrophoresis. Physical linkage of probes D21S65 and D21S17 on a 2100 kb Nrul fragment was established by partial digestion experiments. In all the patients, the translocation generated a rearranged D21S65 Nrul fragment of 650 to 750 kb, suggesting heterogeneity in the breakpoints. This heterogeneity was confirmed by using BssHII, Sacll, and Eagl enzymes. Our results are consistent with the presence of a 100 Kb breakpoint cluster region on chromosome 21 encompassing the AMLI gene. Interestingly, in half of the patients, demethylation of an Nrul site located 7 kb proximal to the last exon of the AMLI gene occurred on the nontranslocated chromosome 21.