bluuebunny/crossref_metadata_2025 huggingface dataset:
Molluscum contagiosum presenting as cellulitis in an AIDS patient: Cytologic and ultrastructural features
Authors: Freeman Cathy L. , Moriarty Ann T.
Published: February 2007

This report describes the cytologic features of molluscum contagiosum presenting clinically as a left thigh abscess in a 29‐yr‐old male with AIDS. the fine‐needle aspiration findings are correlated with the histologic and ultrastructural findings. Molluscum contagiosum's clinical presentation, natural course, and induction of host immune responses in immunocompetent and immunosuppressed individuals as identified by light microscopy, immunocytochemically and ultrastructurally are reviewed. Molluscum contagiosum presenting clinically and cytologically as an abscess is unusual. in this report, we emphasize the inclusion of molluscum contagiosum in a differential diagnosis of an abscess, particularly in immunosuppressed patients, and discuss the cytologic differential diagnoses. © 1995 Willey‐ Liss, Inc.
Evaluation of papnettrade; system for rescreening of negative cervical smears
Authors: Ashfaq R. , Liang Y. , Saboorian M. H.
Published: February 2007

We rescreened 2,238 cervicovaginal smears conventionally prepared with Papanicolaou stain by PAPNETtrade; system. The slides screened manually as negative, were sent to PAPNET system. The image tapes were reviewed on a high‐resolution monitor, and categorized as negative, unsatisfactory, and atypical. All atypical cases were rescreened manually. Abnormal cases were reviewed by a cytopathologist. Two‐thousand one hundred and two (94%) cases rescreened by PAPNET were negative. Nine of 45 unsatisfactory cases by PAPNET were unsatisfactory by manual review. Ninety‐one (4.0%) cases by PAPNET were atypical. On manual rescreening, 86 of 91 were negative, 20% showing benign cellular changes; five of 91 were atypical, the atypia, however, not exceeding low‐grade category. The detection rate by PAPNET method was 0.2% (five of 2,238 cases). We conclude: 1) In a cytology laboratory with good quality control, PAPNET rescreening does not significantly increase the detection rate. 2) For cytology laboratories without in‐house rescreening. PAPNET offers an alternative at a price. 3) The PAPNET system also offers a tool by which a laboratory can occasionally monitor its performance. 4) The cost benefit analysis of the system requires further study and scrutiny. © 1995 Wiley‐Liss, Inc.
Cytomorphologic appearances of normal endometrial cells during different phases of the menstrual cycle: A cytologic approach to endometrial dating
Authors: Tao Liang‐Che
Published: February 2007

From 1988 to 1992, 156 endometrial cytologic preparations were procured by directly brushing hysterectomy specimens from premenopausal women with normal endometrium and regular menstruation. These brushing smears were obtained by using the cyto‐brush and/or the endometrial brush. The cytologic findings were correlated with histologic endometrial dating. Of these, 56 cases were classified as proliferative phase endometrium; 89, secretory phase; and 11, menstrual phase. The cytomorphologic features of endometrial glandular and stromal cells at different stages of the menstrual cycle are summarized and compared. On the basis of the different cytomorphologic features of glandular and stromal cells seen during various phases of the cycle, cytologic differentiation between proliferative phase and secretory phase endometria can be readily established. It appears possible to date the endometrium by direct endometrial brushing technique. It is also possible to determine if the glandular and/or stromal cells seen in the endocervical smears procured by the cytobrush are normal endometrial cells from cytobrush extraction, and are consistent with the date of the menstrual cycle, which should be made clear in the cytology report. © 1995 Wiley‐Liss, Inc.
Cytology, flow cytometry, image analysis, and interphase cytogenetics by fluorescence in situ hybridization in the diagnosis of transitional cell carcinoma in bladder washes: A comparative study
Authors: Cajulis Ricardo S. , Haines George K. , Frias‐Hidvegi Denise , McVary Kevin , Bacus James W.
Published: February 2007

The diagnosis of transitional cell carcinoma (TCC) in bladder washes is a diagnostic challenge to cytology. This study assessed the role of flow cytometry (FCM), image analysis (IA), and interphase cytogenetics by fluorescence in situ hybridization (FISH) as adjuncts in the cytodiagnosis of TCC in bladder washes. Forty separate samples of bladder washes were prospectively evaluated by conventional cytology (CY), FCM, IA, and FISH, and the results were compared with the subsequent surgical biopsy specimens which revealed 26 TCC (3 GR I, 6 GR II, 17 GR III) and 14 benign lesions. Using histology as the “gold standard” and following the previously published criteria for detection of TCC by CY, FCM, IA, and FISH, the concordance rates between histology and CY, FCM, IA, and FISH were 75, 74, 89, and 83%, respectively. CY, FCM, IA, FISH, and histology were concordant in 54% of the cases. The sensitivity of CY, FCM, IA, and FISH were 61, 72, 91, and 73%. respectively, while the specificity were 100, 80, 83, and 100%, respectively. The combined sensitivity of all the parameters was 96%. Interestingly, the false positive cases by FCM and IA showed cystitis. We conclude that IA has the highest sensitivity in detecting TCC in bladder washes followed by FISH, FCM, and CY, while CY and FISH have the highest specificity. This study indicates that FCM, IA, and FISH are useful adjuncts to cytology in the diagnosis of TCC in bladder washes. The finding of DNA‐aneuploidy in cystitis warrants further investigation. © 1995 Wiley‐Liss, Inc.
Fine‐needle aspiration cytology of superficial angiomyxoma (myxoid perifollicular fibroma): Report of a case
Authors: Izquierdo Francisco M. , Martin Luis , Burgos Fernando , Lacruz César
Published: February 2007

A case of superficial angiomyxoma arising in the areola of a 49‐yr‐old woman is presented, including both fine‐needle aspiration cytology (FNAC) and histological study. The aspirate yielded a rich myxoid background with isolated fusiform cells, showing oval, monomorphic nuclei with minimal atypia. Sometimes these cells were arranged in small fragments without any specific pattern. The absence of mitotic figures, atypia, or cutaneous and breast epithelium suggested a benign myxoid stromal neoplasm. The final diagnosis was established on the excised mass by histopathologic study. The report of this entity in FNAC and the differential diagnosis with other myxoid lesions are discussed, and the feasibility of its cytological diagnosis by FNAC, helped by appropriate clinical information. © 1995 Wiley‐Liss, Inc.
Biphasic intraabdominal desmoplastic small round cell tumor: Fine‐needle aspiration cytology findings
Authors: Drut Ricardo
Published: February 2007

The present report describes the case of a 9‐yr‐old boy with an abdominal desmoplastic small round cell tumor (DSRCT) which on fine‐needle aspiration cytology and histology revealed a biphasic pattern, making initial diagnosis difficult. Epithelial‐like clusters of cells and loosely‐arranged poorly‐differentiated cells with scant cytoplasm associated with cells having a larger nucleus and multinucleated larger cells represented the smears' counterpart of epithelial clusters and lobules and sarcomatous‐like tissue recognized in the histologic sections. Multinucleated cells were common in the sarcomatous‐like areas of the tumor. The biphasic pattern was highlighted by immunohistochemistry. Keratin and epithelial membrane antigen stained predominantly or only the epithelial component, while desmin diffusely decorated the sarcomatous areas and the epithelial cells as a paranuclear cytoplasmic dot. Immunosera 013 mainly stained the sarcomatous component. © 1995 Wiley‐Liss, Inc.
Metastatic liposarcoma in the adrenal gland: Report of two cases diagnosed by fine‐needle aspiration
Authors: McCutcheon J. , Irvine A. , Derias N. W.
Published: February 2007

Fine‐needle aspiration is now well established in the investigation of retroperitoneal masses. Many of these lesions are first detected in the course of radiological surveys of patients with known or suspected malignancy. It can be difficult to diagnose sarcomas on fine‐needle aspiration material as many of these tumour do not show cytological features of malignancy. We describe two cases of metastatic liposarcoma confidently diagnosed on the basis of characteristic cytological features seen in material aspirated from metastatic adrenal tumours. © 1995 Wiley‐Liss, Inc.
Prognostic factors in breast cancer: Use of cytologic preparations
Authors: Masood Shahla
Published: February 2007

There is increasing evidence that certain morphological features and biological markers found in breast tumors may provide prognostic information by predicting the risk of recurrence and metastasis in early breast cancer. This information may also be important in choosing therapeutic options in patients with advanced disease. Prognostic testing is commonly performed on surgically excised lesions. However, there are clinical conditions in which a surgical specimen may not be suitable or available for such analysis. In these circumstances, fine‐needle aspiration biopsy and imprint preparation provide an attractive sample for prognostic testings. This review summarizes the current approach to the use of cytologic preparation for assessment of established and newly recognized prognostic factors. © 1995 Wiley‐Liss, Inc.
Structural components of the nonstriated contractile apparatuses in the Caenorhabditis elegans gonadal myoepithelial sheath and their essential roles for ovulation
Authors: Ono Kanako , Yu Robinson , Ono Shoichiro
Published: February 2007

Ovulation in the nematode Caenorhabditis elegans is regulated by complex signal transduction pathways and cell–cell interactions. Myoepithelial sheath cells of the proximal ovary are smooth muscle‐like cells that provide contractile forces to push a mature oocyte into the spermatheca for fertilization. Although several genes that regulate sheath contraction have been characterized, basic components of the contractile apparatuses of the myoepithelial sheath have not been extensively studied. We identified major structural proteins of the contractile apparatuses of the myoepithelial sheath and characterized their nonstriated arrangement. Of interest, integrin and perlecan were found only at the dense bodies, whereas they localized to both dense bodies and M‐lines in the striated body wall muscle. RNA interference of most of the myofibrillar components impaired ovulation in a soma‐specific manner. Our results provide basic information that helps understanding the mechanism of sheath contraction during ovulation and establishing a new model to study morphogenesis of nonstriated muscle. Developmental Dynamics 236:1093–1105, 2007. © 2007 Wiley‐Liss, Inc.
Expression of Sox9, Mis, and Dmrt1 in the gonad of a species with temperature‐dependent sex determination
Authors: Shoemaker Christina , Ramsey Mary , Queen Joanna , Crews David
Published: February 2007

Sex determination in vertebrates, the process of forming an ovary or testis from a bipotential gonad, can be initiated by genetic or environmental factors. Elements of the downstream molecular pathways underlying these different sex‐determining mechanisms have been evolutionarily conserved. We find the first evidence that Sox9 expression is preferentially organized in the testis early in the temperature‐sensitive period in a species with temperature‐dependent sex determination (Trachemys scripta). This pattern occurs before sexually dimorphic Mis expression and in a temporal hierarchy that is similar to mammals. Furthermore, we extend previous findings that Dmrt1 expression at early stages of sex determination has a dimorphic pattern consistent with a possible upstream role in determining the fate of the bipotential gonad. Developmental Dynamics 236:1055–1063, 2007. © 2007 Wiley‐Liss, Inc.
Conditional targeted cell ablation in zebrafish: A new tool for regeneration studies
Authors: Curado Silvia , Anderson Ryan M. , Jungblut Benno , Mumm Jeff , Schroeter Eric , Stainier Didier Y.R.
Published: February 2007

Conditional targeted cell ablation in zebrafish would greatly expand the utility of this genetic model system in developmental and regeneration studies, given its extensive regenerative capabilities. Here, we show that, by combining chemical and genetic tools, one can ablate cells in a temporal‐ and spatial‐specific manner in zebrafish larvae. For this purpose, we used the bacterial Nitroreductase (NTR) enzyme to convert the prodrug Metronidazole (Mtz) into a cytotoxic DNA cross‐linking agent. To investigate the efficiency of this system, we targeted three different cell lineages in the heart, pancreas, and liver. Expression of the fusion protein Cyan Fluorescent Protein–NTR (CFP‐NTR) under control of tissue‐specific promoters allowed us to induce the death of cardiomyocytes, pancreatic β‐cells, and hepatocytes at specific times. Moreover, we have observed that Mtz can be efficiently washed away and that, upon Mtz withdrawal, the profoundly affected tissue can quickly recover. These findings show that the NTR/Mtz system is effective for temporally and spatially controlled cell ablation in zebrafish, thereby constituting a most promising genetic tool to analyze tissue interactions as well as the mechanisms underlying regeneration. Developmental Dynamics 236:1025–1035, 2007. © 2007 Wiley‐Liss, Inc.
The Magnetic Structure of Mn2GeSe4
Authors: Mikus Holger , Deiseroth Hans‐Jörg , Aleksandrov Krassimir , Ritter Clemens , Kremer Reinhard K.
Published: February 2007

The magnetic structure of the olivine type Mn2GeSe4 is investigated by powder neutron diffraction between 2 K and ambient temperature. Based on a number of “magnetic reflections” occurring below Tc = 66 K a model for the magnetic structure of the Mn2+ ions (d5) is derived by structure refinements based on the FULLPROF program system. Most important result is an antiferromagnetic arrangement of the Mn2+ moments in successive layers along [001] (“easy direction”). This ordering evolves gradually with decreasing temperature as can be seen from the temperature dependence of the resultant magnetization of the two magnetic sublattices. The magnetization direction of one of the magnetic sublattices shows a weak tendency at low temperatures to deviate from the easy direction [001] towards [100]. The magnetic structure proposed for the title compound is comparable with the ones found for other magnetic thio‐ and seleno‐olivines although a comprehensive picture for the magnetic properties of this group of solids is still lacking. The explanation for the “weak ferromagnetism” below Tc = 66 K with a saturation magnetization of about 0.5 μB per Mn2+ ion in a field of 7 T (2 K) as derived from earlier susceptibility measurements remains still speculative. It may result from local non‐zero components that do not show up in the overall magnetic structure. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2007)
Reactivity of Ruthenium(II) and Copper(I) Complexes that Possess Anionic Heteroatomic Ligands: Synthetic Exploitation of Nucleophilicity and Basicity of Amido, Hydroxo, Alkoxo, and Aryloxo Ligands for the Activation of Substrates that Possess Polar Bonds as well as Nonpolar C–H and H–H Bonds
Authors: Gunnoe T. Brent
Published: February 2007

The preparation and reactivity of late transition‐metal complexes in low oxidation states with nondative‐heteroatomic ligands (e.g., amido, hydroxo, alkoxo, and aryloxo ligands) are described. For such complexes the disruption of ligand‐to‐metal π‐donation because of a filled dπ manifold can enhance the nucleophilic and/or basic reactivity at the nondative‐heteroatomic ligand relative to transition‐metal complexes in high oxidation states. The chemistry of five‐ and six‐coordinate Ru complexes with amido, hydroxo, methoxo, and aryloxo ligands is described including Brønsted acid/base reactions, coordination, and activation of polar substrates toward N–C bond forming reactions and metal‐mediated activation of dihydrogen and C–H bonds. The impact of ancillary ligands and Ru oxidation states (RuII versus RuIII) are discussed. In addition, the preparation and reactivity of well‐defined monomeric two‐ and three‐coordinate Cu complexes with amido, alkoxo, hydroxo, and aryloxo ligands are presented including examples of reactions to probe fundamental reactivity patterns as well as catalytic addition of N–H and O–H bonds across C=C bonds of olefins. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2007)
Ruthenium Complex Fragments as Constituents of Trinuclear Photoactive Supramolecular Assemblies Based on Hydrogen Bond Association
Authors: Halbauer Kathi , Göbel Angela , Sterzik Anke , Görls Helmar , Rau Sven , Imhof Wolfgang
Published: February 2007

The reaction of the octahedral complexes cis‐ or trans‐[Ru(C≡N‐tBu)4(CN)2], (Ru(CN)2), with the photochemically active [bis(bipyridyl)bibenzimidazole‐ruthenium(II)], (RubiH2), component via hydrogen bond association results in the formation of supramolecular aggregates with modified photophysical properties. The first structural characterization of a supramolecular adduct is reported, in which the N–H functions of the ruthenium bound bibenzimidazole ligand via hydrogen bonds serve as an interface directly toward a cyanide ligand acting as a bridge to another transition metal. In addition, the maximum stoichiometry of the supramolecular associates is estimated by NMR titration experiments and association constants of the hydrogen bonded adducts are determined by the decay of the emission intensity during the titration experiments.(© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2007)
Spectroelectrochemical Sensing Based on Multimode Selectivity Simultaneously Achievable in a Single Device. 19. Preparation and Characterization of Films of Quaternized Poly(4‐vinylpyridine)‐silica
Authors: Conklin Sean D. , Heineman William R. , Seliskar Carl J.
Published: February 2007

Quaternized poly(4‐vinylpyridine) (QPVP) has been incorporated as an anion exchanger into sol‐gel derived silica films for use in a spectroelectrochemical sensor. The preparation, characteristics and performance of these films are described. The films, which are spin‐coated onto the surface of a planar optically transparent electrode, are optically transparent and uniform. Scanning electron microscopy and spectroscopic ellipsometry have been used to examine film structure, thickness and optical properties. These films have been shown both spectroscopically and electrochemically to preconcentrate ferrocyanide, a model analyte for the sensor. The films can be regenerated for multiple measurements by exposure to 1 M KNO3. The effects of polymer molecular weight and storage conditions on film performance are described. The overall response of this film is comparable to the poly(dimethyldiallylammonium chloride)‐silica films previously used for this sensor.
Detailed analysis of loss of heterozygosity on chromosome band 17p13 in breast carcinoma on the basis of a high‐resolution physical map with 29 markers
Authors: Isomura Minoru , Tanigami Akira , Saito Hiroko , Harada Yosuke , Katagiri Toyomasa , Inazawa Joji , Nakamura Yusuke , Ledbetter David H.
Published: February 2007

We have constructed a physical map of chromosome band 17p 13, using 29 markers that had been localized to 17p 13 by means of fluorescence in situ hybridization (FISH) and analysis by pulsed‐field gel electrophoresis (PFGE). The map spans nearly 8 Mb of genomic DNA, and the estimated average distance between each marker is roughly 290 kb. The p 13 band of chromosome 17 is thought to contain a putative tumor suppressor gene in addition and distal to TP53. Deletion mapping in a large number of breast carcinomas indicated that the tumor suppressor gene lies between the loci defined by cC117‐708 (D17S878) and p144D6 (D17S34), which are an estimated 7 Mb apart. Our results should contribute to construction of a contig map of chromosome band 17p 13 with cosmid and/or YAC (yeast artificial chromosome) clones, and to isolation of the putative tumor suppressor gene. Genes Chrom Cancer 9:173‐179 (1994). © 1994 Wiley‐Liss, Inc.
A t( 10; 17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma
Authors: Sozzi Gabriella , Bongarzone Ltalia , Miouo Monica , Borrello Maria Grazia , Butti Marta Giaele , Porta Giuseppe Della , Pierotti Marco A. , Pilotti Silvana
Published: February 2007

Activation of the RET protooncogene tyrosine kinase (tk) by fusion with other genes is a frequent finding in papillary thyroid carcinoma. The tk domain of proto‐RET can be fused either with the D10S170 gene generating the RET/PTCI transforming sequence or with sequences belonging to the gene encoding the regulatory subunit R/A of c‐AMP‐dependent protein kinase A, thus forming the RET/PTC2 oncogene. We have previously shown that an inversion of chromosome 10, inv(10)(q11.2q21), is responsible for the generation of the RET/PTCI. Here we report that a chromosomal translocation, t(10;17)(q11.2;q23), juxtaposes the tk domain of the RET protooncogene, which resides on chromosome 10, to a 5′ portion of the R/A gene on chromosome 17, leading to the formation of the chimeric transforming gene RET/PTC2. The finding of the transforming protein in primary tumor cell extracts supports the conclusion that RET/PTC2 activation plays a role in papillary thyroid tumorigenesis. Genes Chrom Cancer 9:244‐250 (1994). © 1994 Wiley‐Liss, Inc.
Inversion‐associated translocations in acute myelomonocytic leukemia with eosinophilia
Authors: Berger Roland , Derré Josette , Coniat Maryvonne Le , Hébert Josette , Serge Romana P. , Jonveaux Philippe
Published: February 2007

Cytogenetic studies of three acute myelomonocytic leukemias with bone marrow eosinophilia (M4EO) revealed chromosome 16 inversion associated with additional abnormalities. The inverted chromosome 16 was involved in two patients. Fluorescence in situ hybridization (FISH) experiments with a YAC probe detecting inv(16) showed that the translocation breakpoints involving chromosome 16 did not implicate the inversion breakpoints. FISH can thus distinguish between true variant translocations and translocations with other breakpoints on chromosome 16 in M4EO.
Translocation t(3;12)(q28;q14) in parosteal lipoma
Authors: Bridge Julia A. , Deboer Joanne , Walker Craig W. , Neff James R.
Published: February 2007

Parosteal lipoma is a rare primary benign bone tumor demonstrating histopathologic features similar to those seen in the commonly occurring lipoma of soft tissue. Cytogenetic studies of soft tissue lipoma have demonstrated frequent abnormalities of 12q13–15. To the best of our knowledge the cytogenetic findings in parosteal lipoma have not yet been described. Cytogenetic analysis of a parosteal lipoma of the femur of a 51‐year‐old female revealed a t(3;12)(q28;q14), indicating that bone and soft tissue lipomas are cytogenetically similar and likely share a common histopathogenesis.
Translocation t(8;13)(p11;q11‐12) in stem cell leukemia/lymphoma of t‐cell and myeloid lineages
Authors: Naeem Rizwan , Singer Samuel , Fletcher Jonathan A.
Published: February 2007

An unusual hematologic neoplasia has been described recently in which the predominant clinical features include T‐cell lymphoma, myeloid hyperplasia, and eosinophilia. The multilineage involvement in this disorder suggests transformation of a primitive stem cell. Abnormal karyotypes have been described in three such cases, including one case with t(8;13)(p11.2;q12) and a second case with t(8;13)(p23;q14). We report translocation of chromosomes 8 and 13 in lymph node karyotypes from two patients with this syndrome. Fluorescence in situ hybridization confirmed an identical translocation, t(8;13)(p11;q11‐12), in lymphoma cells from each patient. The translocation breakpoints are of particular interest because the FLT3 receptor tyrosine kinase gene has been mapped to 13q12. FLT3 is expressed highly in hematopoietic progenitor cells and in myeloid and lymphoid acute leukemias.
Loss of heterozygosity in sporadic primary cutaneous melanoma
Authors: Healy Eugene , Rehman Ishtiaq , Angus Brian , Rees Jonathan L.
Published: February 2007

Difficulties in obtaining clinical samples from primary melanomas have meant that most genetic analyses of melanoma have concentrated on cell lines and metastases. Because the Breslow thickness of the primary tumour is the single best prognostic indicator, it is important to identify genetic abnormalities in primary melanomas and relate these changes to the thickness of the lesion. We have investigated 47 sporadic melanomas, of which 41 were primary lesions, for loss of heterozygosity (LOH) on several chromosomal arms, including areas where genes involved in familial melanoma and other relevant hereditary syndromes map, and where LOH has previously been reported in cell lines or metastatic lesions. LOH was identified at 66 (18%) of 358 informative loci in primary melanomas, and there was a significant relationship between the overall frequency of LOH and Breslow thickness (P < 0.0005). Loss of chromosome arm 9p was most frequent, occurring in 15 (47%) of 32 informative primary tumours, and was observed in 3 of 11 informative lesions ≦ 1.5 mm in depth. LOH on chromosome arms 3p, 6q, 10q, 11q, and 17p was also relatively frequent, with loss of 3p and 10q heterozygosity in lesions ≦ 1.5 mm in depth, while LOH on 6q, 11q, and 17p was only detected in more invasive tumours. The results suggest that loss of these chromosome regions are important in sporadic cutaneous melanoma, and are consistent with chromosome arm 9p loss occurring before loss of other chromosome arms.
Defining the position of the breakpoint of the constitutional t(3;6) occurring in a family with renal cell carcinoma
Authors: van den Berg Anke , van der Veen Anneke Y. , Hulsbeek Miriam M. F. , Kovacs Gyula , Gemmill Robert M. , Drabkin Harry A. , Buys Charles H. C. M.
Published: February 2007

In a family with a constitutional translocation t(3;6), the oldest member carrying the translocation had developed multiple nonpapillary renal cell carcinomas (RCCs). The translocation breakpoint was positioned between 3p13 and 3p14.1. This is close to the region in which a t(3;8) breakpoint has been reported in a family with hereditary RCC. We defined the location of the t(3;6) and t(3;8) breakpoints by fluorescence in situ hybridization (FISH) analysis with yeast artificial chromosomes (YACs) from the 3p14–13 region. Both interphase nuclei and metaphase cells from translocation‐carrying members of both families have been used, allowing the definition of flanking YACs for each breakpoint. We could thereby clearly confirm that the breakpoints are different, the t(3;8) breakpoint being most distal. In addition, we have shown that both translocation breakpoints are located distal to the homozygously deleted region in the U2020 lung cancer cell line.
Region‐specific loss of heterozygosity on chromosome 19 is related to the morphologic type of human glioma
Authors: Ritland Steven R. , Ganju Vinod , Jenkins Dr.Robert B.
Published: February 2007

Allelic mutation on chromosome 19 has previously been reported as a frequent genetic event in human glial tumors. In an effort to localize specific regions of importance on this chromosome better, 13 highly polymorphic genetic markers distributed along the length of chromosome 19 were used for evaluation of loss of heterozygosity (LOH) and microsatellite instability in a total of 100 brain tumors, including 75 astrocytomas (55 grade 4; 7 grade 3; 5 grade 2; 6 grade 1; and 2 other), 17 oligodendrogliomas (1 grade 4; 5 grade 3; 10 grade 2; and 1 grade 1), and 8 mixed oligoastrocytomas (MOA) (3 grade 4; 2 grade 3; and 3 grade 2). No microsatellite expansion was observed in these glial tumors for any of the chromosome 19 loci examined. LOH for loci on chromosome 19 was detected in 23/74 informative astrocytomas (31%), 11/17 oligodendrogliomas (65%), and 3/8 MOA (38%). Partial deletion of chromosome 19 occurred more frequently (31/37 cases) than did loss of one whole copy of the chromosome, and a morphology‐specific pattern of LOH was observed. In 12/14 (86%) instances of chromosome 19 deletion in oligodendrogliomas and MOA, the 19q arm showed LOH, whereas the 19p arm showed no loss for all informative loci. Conversely, in 17/23 (74%) instances of chromosome 19 deletion in astrocytomas, the 19p arm showed LOH, whereas the 19q arm showed no loss for one or more loci. Thus, loss of 19q and retention of 19p are strongly associated with oligodendroglioma and MOA, whereas loss of 19p and retention of distal 19q is associated with astrocytoma. These data indicate that two or more tumor suppressor genes may reside on chromosome 19, one on 19p important in the development of astrocytomas, and one on 19q important in oligodendrogliomas and MOA.
Localization of the 8;13 translocation breakpoint associated with myeloproliferative disease to a 1.5 mbp region of chromosome 13
Authors: Kempski Helena , Macdonald Donald , Michalski Antony J. , Roberts Terry , Goldman John M. , Cross Nicholas C. P. , Cowell Dr.John K.
Published: February 2007

There are five reported cases of an atypical myeloproliferative disorder in which the leukemia cells have a consistent t(8;13)(p11;q12) translocation. We analyzed the breakpoint in metaphases from two of these patients by fluorescence in situ hybridization using a series of yeast artificial chromosomes (YACs) derived from the 13q12 region. We found that a YAC containing the FLT1 and FLT3 oncogenes was localized distal to the 13q12 breakpoint and was not rearranged. YAC 66, a YAC that lies immediately adjacent to the chromosome 13 centromere, was localized proximal to the 13q12 breakpoint and was not rearranged. A third YAC, which is located between FLT1 and YAC 66, was unrearranged in normal metaphase chromosomes, but showed hybridization signals on both derivative chromosomes in both cases. Thus, the breakpoints in these two cases are localized to the same 1.5 Mbp region of 13q12. This may be the site of an unidentified gene involved in the pathogenesis of some types of leukemia.
Allelic losses in human chromosome II in lung cancers
Authors: Lizuka Masayoshi , Sugiyama Yuki , Shiraishi Masahiko , Jones Carol , Sekiya Takao
Published: February 2007

The relatively frequent loss of heterozygosity at loci on the short arm of chromosome 11 in human lung cancers has suggested the presence of a putative tumor suppressor gene. For location of the gene, a fine deletion map of human chromosome 11 was constructed by analysis of DNAs from 79 lung cancers with 31 sequence‐tagged‐site markers that dotted chromosome 11 and detected polymorphic changes in nucleotide sequences. The results showed that three regions, 11p 12‐p 15, 11q12, and 11 q14‐q24, were commonly deleted in a considerable number of cancers, indicating the possible presence of more than one tumor suppressor gene. The range of deletion in the 11p15 region was estimated to be 4.5 megabases. That in the 11q24‐q24 region was divided into two portions: one was 3 cM in length, and the other was longer and could not be specified because of lack of appropriate markers. The deletion in the 11q12 region was so short that two markers flanking the region could not be identified by genetic analysis. © 1995 Wiley‐Liss, Inc.
Genetic mosaicism at the insulin locus in liver associated with childhood hepatoblastoma
Authors: Simms Lisa A. , Reeve Anthony E. , Smith Peter J.
Published: February 2007

Hepatoblastoma is commonly associated with loss of heterozygosity (LOH) involving chromosome region IIp 15.5. This region may contain an as yet unidentified tumor suppressor gene relevant to this and other tumors associated with the Beckwith Wiedemann syndrome. Using the insulin (INS) locus as a marker for this region we have identified two of three patients with hepatoblastoma whose livers demonstrated genetic mosaicism. One tumor arose from the clone demonstrating LOH in the liver while the other arose from the clone without LOH. © 1995 Wiley‐Liss, Inc.
Detection of multiple gains and losses of genetic material in ten glioma cell lines by comparative genomic hybridization
Authors: Mohapatra Gayatry , Kim Dong H. , Feuerstein Burt G.
Published: February 2007

A protocol for comparative genomic hybridization by use of nucleotides directly labeled with fluorochromes was used to map regions of deletion and amplification in ten glioma cell lines. The protocol greatly reduced experimental artifacts. We detected several genetic aberrations, including whole chromosome loss and gain, partial loss and gain, possible isochromosome, and higher level DNA amplification. The most frequent losses (in order of frequency) occurred on chromosomes 10, 18, 13, 11, 9, 14, 4, 6, 1, and X. The most common gain occurred on chromosome 7. Several sites of previously known and unknown amplifications were observed. © 1995 Wiley‐Liss, Inc.
Homozygous Deletions and Loss of Expression of the CDKN2 gene occur frequently in head and neck squamous cell carcinoma cell lines but infrequently in primary tumors
Authors: Lydiatt William M. , Murty V. V. V. S. , Davidson Bruce J. , Xu Li , Dyomina Katerina , Sacks Peter G. , Schantz Stimson P. , Chaganti R. S. K.
Published: February 2007

Deletion of 9p21–22 is a common genetic alteration in dysplastic, in situ, and invasive head and neck squamous cell carcinoma (HNSCC). However, a candidate tumor suppressor gene (TSG) at this site has thus far not been identified in HNSCC. We report homozygous deletion of the recently identified multiple tumor suppressor I (MTSI)/cyclin‐dependent kinase‐4‐inhibitor (CDKN2) gene mapped to 9p21, which encodes the p16 protein, a regulator of cyclin‐dependent kinase 4, in six of 16 HNSCC cell lines. We also show absence of the CDKN2 mRNA in all cell lines with CDKN2 deletion as well as in an additional two cell lines without deletion. Overall, we have identified 9p abnormalities in 12 of 16 (75%) cell lines, at least nine of which involved CDKN2. We further demonstrate that the CDKN2 deletion in HNSCC is located within a previously described region of allelic loss between D9S171 and IFNW, which spans a 4 cM region of 9p. However, examination of 36 primary tumors revealed genetic alterations in only seven of 36 (19%) tumors. These results suggest that genetic alterations at CDKN2 are frequent in HNSCC cell lines, but the role of this gene in primary tumors is less compelling. CDKN2 does not appear to be the only TSG on 9p21 in HNSCC, and our results suggest that another region of deletion exists proximal to the IFNW locus. © 1995 Wiley‐Liss, Inc.
Childhood acute lymphoblastic leukemia with equivocal chromosome markers of the t(I;I9) translocation
Authors: Filatov Leonid V. , Behm Frederick G. , Pui Ching‐Hon , Head David R. , Downing James R. , Raimondi Susana C.
Published: February 2007

The t(1;19)(q23;p13) or its derivative encodes an E2A‐PBX1 fusion transcript and protein that has been shown to have important prognostic and therapeutic implications in patients with acute lymphoblastic leukemia (ALL). We describe two childhood cases in which a der(22)t( 1;22)(q21‐23;p13) cytogenetically mimicked a der( 19)t( 1; 19)(q23;p 13). In one case, which was phenotyped as early pre‐B ALL with hyperdiploidy but lacked evidence of an E2A‐PBX1 gene fusion by molecular study, the poor banding quality of chromosomes led to misinterpretation of the cytogenetic findings; a correct diagnosis was established only after analysis by the fluorescence in situ hybridization (FISH) method. The second case, which was classified as pseudodiploid pre‐B ALL, had both a derivative 19 and a derivative 22 but lacked sufficient cells for evaluation of E2A‐PBX1 gene fusion. This case was included in order to compare the der(19)t(1;19) and the der(22)t(1;22) and to pinpoint the difficulty in distinguishing these markers. FISH analysis can resolve diagnostic uncertainty in cases of ALL with equivocal chromosome 19 markers. © 1995 Wiley‐Liss, Inc.
Monochromosome transfers to syrian hamster BHK cells via microcell fusion provide functional evidence for suppressor genes on human chromosome 9 both for anchorage independence and for tumorigenicity
Authors: Islam M. Quamrul , Islam Khaleda , Levan GÖRan , Horvath György
Published: February 2007

We previously identified an anchorage independence‐suppressor gene, SAII, on rat chromosome (RNO) 5. RNO5 is homologous to human chromosomes (HSA) I and 9. In order to find the human homolog of the SAII gene, we transferred HSAI and HSA9 to an anchorage‐independent and tumorigenic Syrian hamster BHK 191‐5C cell line by microcell fusion. For HSA9, we used a t(X; 9)‐derivative chromosome to force the retention of this chromosome in hybrids by hypoxanthine‐aminopterin‐thymidine (HAT) selection. To study the possible effect of the X portion of the der(9)t(X; 9), we also transferred a normal X to 191‐5C cells. For HSAI, a neo‐tagged chromosome was introduced. Following the transfer of der(9)t(X; 9) to 191 ‐5C cells, the hybrid cells became anchorage dependent and nontumorigenic, and, upon the loss of this chromosome, the cells regained their tumorigenic and anchorage‐independent phenotypes. The transfer of HSAX or HSAI, on the other hand, affected neither of these phenotypes. These results provide functional proof of suppressor genes on HSA9 involving both anchorage independence and tumorigenicity. In addition, our data suggest the presence of another gene on HSA9 that causes a negative growth effect and whose phenotypic expression, contrary to the suppressor genes, is dosage dependent. © 1995 Wiley‐Liss, Inc.
Cytogenetic findings in 31 papillary thyroid carcinomas
Authors: Roque Lúcia , Clode Ana L. , Gomes Paula , Rosa‐Santos Jorge , Soares Jorge , Castedo Sérgio
Published: February 2007

Chromosome studies performed on 3I papillary thyroid carcinomas (PTCs) revealed clonal numerical and structural abnormalities in I2 tumors. The numerical clonal aberrations found were trisomy 2, trisomy 7, and loss of the Y chromosome. A nonrandom telomeric association, tas( I5; I6)(p I3; p I3), was observed in one carcinoma. Structural alterations with a breakpoint at I0q II.2 were detected in two tumors. Other chromosomes involved in rearrangements were chromosomes I, 2, 3, 5, 7, 9, II, 12, and 14. The observation of clonal changes of chromosome 2 [i(2)(qI0) and trisomy 2] in two tumors, which were both histologically classified as tall‐cell PTC variants, suggests that gain of 2q may be important in the development of this morphological variant. © 1995 Wiley‐Liss, Inc.
Loss of heterozygosity from the short arm of chromosome 8 is an early event in breast cancers
Authors: Yarernko M. Lisa , Recant Wendy M. , Westbrook Carol A.
Published: February 2007

Loss of heterozygosity (LOH) from the short arm of chromosome 8 (8p) is common to many human carcinomas, including those of the colon and prostate. It localizes to two discrete regions, 8p21 and 8p22. This suggests the presence of at least two tumor suppressor genes (TSGs) on this chromosome arm. Human breast cancers show consistent 8p deletions in cytogenetic studies, chromosome 8 aneusomy and isochromosome 8q, indicating that the relevant gene(s) may play a role, but the results of molecular analyses of chromosome 8 in breast cancer have been variable. We present here data for 8p LOH in an unselected series of human breast cancers with the use of three CA‐repeat markers that showed high rates of LOH in other tumors. All cases were informative for at least one marker, and LOH was seen in 11 of 20 cases (55%). LOH was more frequent for the 8p22 markers D8S254 and D8S 133 than for NEFL in 8p21. Regional metastases of the tumors showed allele profiles identical to those of their primaries regardless of whether there was LOH or retention of alleles. One case of microsatellite instability (RER+) was seen. LOH did not correlate with receptor status, ploidy, percentage of cells in S phase, or tumor size: We observed LOH at equal rates in small (<2 cm) and in larger (>2 cm) tumors. The data suggest that LOH from 8p is frequent in human breast cancers and that loss of the putative 8p TSG may be an important event in early stage breast cancer. © 1995 Wiley‐Liss, Inc.
Isochromosome 17q demonstrated by interphase fluorescence in situ hybridization in primitive neuroectodermal tumors of the central nervous system
Authors: Biegel Jaclyn A. , Rorke Lucy B. , Janss Anna J. , Sutton Leslie N. , Parmiter Annette H.
Published: February 2007

We previously reported an i(17q) as a non‐random finding in childhood primitive neuroectodermal tumors (PNETs) of the central nervous system. In the present study, we describe a two‐color interphase fluorescence in situ hybridization (FISH) assay for detection of chromosome 17 abnormalities in tumors. Thirty‐four PNETs were analyzed by FISH with a series of chromosome 17‐specific probes which map to 17p13.3‐17q25. The results from the FISH assay were then compared to the karyotypes prepared from the tumors. Ten of the 34 cases demonstrated an i(17q) by FISH and standard cytogenetics. Two PNETs were shown to have an i(17q) by FISH alone, and three additional tumors had deletions of 17p. Thus, a total of 15 of 34 (44%) of the PNETs in this series had a deletion of 17p. This study confirms and extends our previous reports that an i(17q) is the most common cytogenetic abnormality in PNETs. The interphase FISH assay which we employed will have clinical utility for diagnosis of children with malignant brain tumors, and it may be used for identification of tumors with 17p deletions for molecular studies aimed at identifying disease genes.
No recurrent structural abnormalities apart from i(12p) in primary germ cell tumors of the adult testis
Authors: van Echten Jannie , Oosterhuis J. Wolter , Looijenga Leendert H. J. , van de Pol Mirjam , Wiersema Janneke , Meerman Gerard J. Te , Koops Heimen Schraffordt , Sleijfer Dirk Th. , Jong Bauke De
Published: February 2007

Malignant transformation may be caused by gene deregulation resulting from specific chromosomal rearrangements, by amplification, by mutations in proto‐oncogenes, by loss of tumor suppressor genes, or a combination of these. We investigated the role of numerical and structural chromosomal abnormalities in 102 cytogenetically abnormal cases of primary testicular germ cell tumors of adolescents and adults (TGCT) [32 seminomas (SE) and 70 nonseminomatous germ cell tumors (NS)]. We confirmed that an isochromosome for 12p, i(12p), is the only consistent structural chromosomal abnormality in TGCT, present in about 70% of our cases. Both the frequency and the number of copies of i(12p) are higher in NS than in SE. This may suggest that i(12p) is involved in tumor progression. Besides i(12p), several clonal structural chromosomal abnormalities were found, but none appeared to be specific. SE and NS had chromosome numbers in the triploid range, with significantly higher numbers in SE than in NS (average modal chromosome number of 73.4 in SE and 65.0 in NS). Both in SE and NS, some chromosomes were significantly underrepresented (e.g., 11, 13, 18, and Y) and others overrepresented (e.g., 7, 8, 12, 21, and X). In SE, a significantly higher copy number of chromosomes 7, 15, 19, and 22 was found and a significantly lower number of chromosome 17, compared with NS. These chromosomes may play an important role in the differentiation of TGCT.
Predominance of normal karyotype in colorectal tumors from hereditary non‐polyposis colorectal cancer patients
Authors: Muleris Martine , Dutrillaux Anne Marie , Olschwang Sylviane , Salmon Remy Jacques , Dutrillaux Bernard
Published: February 2007

We report the cytogenetic study of 9 colorectal tumors arising in patients with hereditary non‐polyposis colorectal cancer (HNPCC). According to the cytogenetic classification of colorectal tumors previously proposed by us, 2 cases were of the trisomic type, 2 were of the monosomic type, and 5 had a normal karyotype. This represents a significant excess of tumors with normal karyotype in HNPCC tumors (56%) compared to sporadic cases (10/184 = 5%).
Genetic alterations in breast cancer
Authors: Bièche Ivan , Lidereau Rosette
Published: February 2007

The etiology of breast cancer involves a complex interplay of various factors, including genetic alterations. Many studies have been devoted to the identification and characterization of mutations that occur frequently during breast tumorigenesis. The major types of genetic abnormalities that are frequently observed in breast tumors are amplification of protooncogenes (MYC, ERBB2) and DNA from chromosome band 11q13; mutation of TP53; and loss of heterozygosity from chromosomes and chromosome arms 1, 3p, 6q, 7q, 8p, 11, 13q, 16q, 17, 18q, and 22q. The latter may correspond to losses or inactivations of tumor suppressor genes. Recently, linkage analyses of large families with a predisposition to breast cancer have been performed in order to map breast cancer susceptibility genes (TP53, BRCA1, BRCA2). The findings have thrown light on the molecular mechanisms of breast cancer and have enabled various genetic markers to be used in clinical oncology.
Mapping of chromosomal gains and losses in prostate cancer by comparative genomic hybridization
Authors: Joos Stefan , Bergerheim Ulf S. R. , Pan Yi , Matsuyama Hideyasu , Bentz Martin , Manoir Stanislas Du , Lichter Peter
Published: February 2007

Comparative genomic hybridization (CGH) allows detection of chromosomal imbalances in whole genomes in a comprehensive manner. With this approach, ten cases of prostate cancer (seven primary tumors and three metastases) were analyzed. Frequent chromosomal gains detected by CGH involved chromosome arms 7q, 8q, 9q, and 16p, and chromosomes 20 and 22, as well as frequent losses of chromosome arms 16q and 18q, in at least three of the ten cases. Overrepresentation of chromosome arm 9q has not been described in published reports. The CGH data were compared with results of a loss of heterozygosity (LOH) study, in which complete allelotyping was performed in the same prostate tumors with 74 different polymorphic markers. In general, a high concordance between the CGH and LOH results was observed (92%). Tumors revealing discrepancies by CGH and LOH analysis were investigated further by interphase cytogenetics, and the resulting picture regarding the genomic alterations is discussed in detail.