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PubMed2005

Prognostic significance of del(20q) in patients with hematological malignancies.

Deletions of the long arm of chromosome 20 represent a common chromosomal abnormality associated with myeloid malignancies, in particular with myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML). Using G-banding cytogenetic techniques, we found clones with del(20q) in 36 patients with hematological malignancies examined in our laboratory during the years 2001-2003: in 23 patients as a sole cytogenetic aberration and in 13 patients together with other chromosomal changes. Fluorescence in situ hybridization (FISH) with a probe specific for the 20q12 region was used in all cases to confirm the presence of the clone with deletion. For patients with additional or complex chromosomal rearrangements, multicolor FISH (M-FISH) analysis was performed. Statistical evaluation of the prognostic impact of sex, age, diagnosis, and karyotype was performed. The survival time correlated with the type of chromosomal aberration; no significant differences in survival were found for sex, age, and diagnosis.

Acute Disease↗
PubMed2006

Molecular cytogenetic analysis of leukemic mantle cell lymphoma with a cryptic t(11;14).

We report a case of leukemic mantle cell lymphoma of the blastoid variant with complex chromosomal rearrangements leading to the recombination of BCL1 from 11q13 and IGH from 14q32. G-banding analysis showed, in addition to multiple other chromosome abnormalities, a del(11)(q13) and addition of unknown material to chromosome arms 13p and 21p. The two latter rearrangements were revealed, by use of multicolor in situ hybridization (M-FISH) analysis, to be a der(13)(qter-->p11::14q32::11q13-->11q22::14q32-->14q11::11q22-->11qter) and a similar der(21)(qter-->p11::14q32::11q13-->11q23::14q32-->14q11::11q22-->11qter). FISH with locus-specific probes for BCL1 and IGH showed a fusion signal on both derivative chromosomes.

Chromosome Banding↗
PubMed2006

Cutaneous aneurysmal fibrous histiocytoma with a t(12;19)(p12;q13) as the sole cytogenetic anomaly.

We report a case of a 39-year-old woman with a recurrent aneurysmal fibrous histiocytoma of the right lower leg. Cytogenetic analysis of the tumor specimen disclosed a 46,XX,t(12;19)(p12;q13) karyotype. Multicolor fluorescence in situ hybridization (M-FISH), followed by conventional FISH analysis, confirmed the reciprocal translocation as the sole cytogenetic anomaly, and allowed for the positioning of chromosomes 12 and 19 breakpoints proximal to the BCL3 gene and between ETV6 and PIK3C2G gene loci, respectively. Our case highlights the importance of distinguishing this recurrent but benign lesion from similarly appearing malignant skin tumors. Cytogenetic analysis may contribute to the diagnosis of this uncommon but distinctive clinicopathological entity.

Adult↗
PubMed2006

Complex chromosomal rearrangements in patients with chronic myeloid leukemia.

During progression of chronic myeloid leukemia (CML) from the chronic to the accelerated phase and/or blast crisis, clonal evolution with nonrandom secondary aberrations such as +8, +Ph, i(17q), +19, -Y, +21, +17, and -7 is frequently observed. Complex chromosomal rearrangements (CCR) are rather rare, and the significance and frequency of different anomalies are poorly understood. The aim of this study was to determine the chromosomes and chromosomal regions which are involved in CCR during progression of the disease and the frequency of nonrandom changes. Conventional cytogenetics, FISH, and multicolor FISH (mFISH) were used to study karyotypes of 18 CML patients with CCR ascertained by G-banding. Most often involved in CCR were chromosomes 2 (x6); 3, 7, and 17 (x5); 1 and 4 (x4); and 5, 6, 11, and 12 (x3); regions 1q, 2q, 5q, 7p, and 17p; and breakpoints 17p11.2 (x3) and 7p15 (x2). There were no recurrent complex translocations. The present findings demonstrate the very high instability of the genome of malignant cells at the chromosomal level. Precise determination of breakpoints involved in CCR can give new dimension to the understanding of genetic mechanisms which play role in progression of malignant disease.

Adult↗
PubMed2006

A subtle t(3;8) results in plausible juxtaposition of MYC and BCL6 in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia.

Translocations involving 3q27 that affect the BCL6 gene are common and specific chromosomal abnormalities in B-cell precursor non-Hodgkin lymphoma (mainly diffuse large-cell and follicular lymphoma), but they have not been reported in Burkitt lymphoma. Here, we describe a case in which a BCL6 rearrangement and additional complex cytogenetic abnormalities occurred in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia. Although cytogenetic analysis of the bone marrow revealed clonal abnormalities of chromosome arms 8q and 14p and other subclonal abnormalities, the t(8;14) or its variants typically associated with Burkitt lymphoma were not observed. Fluorescence in situ hybridization with locus-specific probes and multicolor spectral karyotyping demonstrated a complex pattern of chromosomal rearrangements leading to a subtle t(3;8)(q27;q24.1) that rearranged BCL6 and placed it adjacent to MYC. We speculate that this genetic lesion occurred as a result of chromosomal instability due to the underlying disease.

Ataxia Telangiectasia↗
PubMed2006

Molecular cytogenetic characterization of human papillomavirus16-transformed foreskin keratinocyte cell line 16-MT.

Anogenital cancers are closely associated with human papillomavirus (HPV), and HPV-infected individuals, particularly those with high-grade dysplasias, are at increased risk for cervical and anal cancers. Although genomic instability has been documented in HPV-infected keratinocytes, the full spectrum of genetic changes in HPV-associated lesions has not been fully defined. To address this, we examined an HPV16-transformed foreskin keratinocyte cell line, 16-MT, by GTG-banding, spectral karyotyping (SKY), and array comparative genomic hybridization (array CGH); these analyses revealed multiple numerical, complex, and cryptic chromosome rearrangements. Based on GTG-banding, the 16-MT karyotype was interpreted as 78-83,XXY,+add(1)(p36.3),+3,+4,+5,+5,+7,+8,+i(8)(q10)x2,+10,?der(12),der(13;14)(q10;q10),+15,+16,add(19)(q13.3),+21,+21,-22[cp20]. Multicolor analysis by SKY confirmed and further characterized the anomalies identified by GTG banding. The add(1) was identified as a der(1)(1qter-->1q25::1p36.1-->1qter), the add(19) as a dup(19), and the der(12) interpreted as a der(11) involving a duplication of chromosome 11 material and rearrangement with chromosome 19. In addition, previously unidentified der(9)t(9;22), der(3)t(3;19), and der(4)t(4;9) were noted. The 16-MT cell line showed losses and gains of DNA due to unbalanced translocations and complex rearrangements of regions containing known tumor suppressor genes. Chromosomal changes in these regions might explain the increased risk of cancer associated with HPV. Also, array CGH detected copy-number gains or amplifications of chromosomes 2, 8, 10, and 11 and deletions of chromosomes 3, 4, 11, and 15. These results provide the basis for the identification of candidate oncogenes responsible for cervical and anal cancer in amplified regions, and for putative tumor suppressor genes in commonly deleted regions like 11q22-23. Furthermore, these data represent the first full characterization of the HPV-positive cell line 16-MT.

Aneuploidy↗
PubMed2006

Molecular cytogenetic characterization of a metastatic lung sarcomatoid carcinoma: 9p23 neocentromere and 9p23-p24 amplification including JAK2 and JMJD2C.

Sarcomatoid carcinoma of the lung (LSC) is a rare lung cancer characterized by an admixture of carcinoma and sarcoma components. Data concerning the genomic alterations of LSC are almost nonexistent. Here, we report on the first molecular cytogenetic characterization of a metastatic LSC. Cytogenetic and multicolor fluorescence in situ hybridization (M-FISH) analyses showed a near-triploid karyotype with numerous structural aberrations and four to six small supernumerary marker chromosomes containing chromosome 9 sequences. Comparative genomic hybridization on arrays (array CGH) detected an amplification of 9p23 approximately p24.3 and gains of 1q11 approximately q23.3, 3q26.2 approximately q29, and 17q23.2 approximately q24.1. The 9p amplification was also detected in the primary tumor and another metastasis of the same patient, indicating it was a significant element in the pathogenesis of this LSC case. Complementary FISH analysis showed that the small supernumerary chromosomes were isochromosomes for 9p23 approximately p24.3. These isochromosomes were lacking alpha-satellite sequences although they were still stable after 55 passages in culture. As demonstrated by immunostaining with anti-centromere antibodies, they contained a functional centromere. So-called analphoid "neocentromeres" are rare and have been mainly described in constitutional abnormal karyotypes. This case is the third description of the identification of neocentromeres in cancer, (i.e. well-differentiated liposarcoma and acute myeloid leukemia), and is the first one in a carcinoma. Our results suggest that the 9p23 neocentromere of this case of LSC might be similar to a 9p23 neocentromere previously identified in two constitutional cases. The frequency of neocentromere formation in solid tumors may indeed be underestimated and may have a significant implication in chromosomal instability in tumor cells.

Aneuploidy↗
PubMed2006

Primary mediastinal (thymic) large B-cell lymphoma with a der(14)t(8;14)(q24;q32) and a translocation of MYC to the derivative chromosome 14 with a deleted IgH locus.

We report a case of primary mediastinal (thymic) large B-cell lymphoma (PMBL) with an initial karyotype containing numerical chromosomal aberrations: +X, +9, +12, +21, and a novel translocation t(2;11)(q?31; q23 approximately 24) with a duplication of the derivative chromosome 11. Subsequent multicolor fluorescence in situ hybridization (M-FISH) analysis revealed a der(14)t(8;14)(q24;q32). Further analysis using fluorescence in situ hybridization (FISH) with locus-specific probes revealed loss of the entire IgH locus from the der(14)t(8;14) and relocation of MYC to this derivative chromosome 14. Our data show definitively the existence of the t(8;14) in PMBL, previously only suspected. This finding supplies additional evidence that a translocation-mediated MYC activation may be an important event in the pathogenesis of this unique lymphoma.

Adolescent↗
PubMed2007

Cytogenetic characterization and gene expression profiling of the trastuzumab-resistant breast cancer cell line JIMT-1.

Resistance to the HER-2 targeting drug trastuzumab can be observed clinically, but the lack of suitable experimental models hampers studies of resistance mechanisms. We characterized a HER-2-positive carcinoma cell line (JIMT-1) derived from a 62-year-old breast cancer patient which was clinically resistant to trastuzumab. Multicolor fluorescence in situ hybridization revealed a complex hyperdiploid karyotype with numerous marker chromosomes and unbalanced translocations. Comparative genomic hybridization (CGH) revealed numerous regions of copy number aberration (CNA). Further analysis by array CGH identified 27 regions of CNA (16 amplified, 11 deleted). Thirty-eight percent of the genes in the amplified regions were overexpressed, compared to only 9% in regions of normal copy number ratios (CNR). Accordingly, 26% of the genes in the deleted regions were underexpressed, compared to 10% in regions of normal CNR. Most amplified and overexpressed genes were located on chromosome 1 as well as on 8q, 12q14.1, 17q11 approximately q21, and 20q13. In 17q11 approximately q21, we identified two separate amplicons, the HER-2 amplicon and a previously unreported amplicon at 17q21.31. Several aberrant genes are implicated in cancer development (e.g., JUN, CDK4, and SLUG protooncogenes, as well as the drug/hormone-metabolizing genes GSTM1 and CYP24). We conclude that cytogenetic and expression profiling of JIMT-1 revealed several new features that need further characterization and may shed light on trastuzumab resistance.

Animals↗
PubMed2005

Rapid Ca2+-dependent increase in oxygen consumption by mitochondria in single mammalian central neurons.

Oxygen consumption increases within a fraction of a second after the onset of neuronal activity, a phenomenon referred to as the "initial dip" in functional imaging studies of the living brain. The cellular mechanism that underlies this rapid increase in oxygen consumption has remained unclear, however. We have now used two-photon excitation imaging to characterize rapid activity-dependent mitochondrial responses in single neurons. This approach allowed simultaneous multicolor imaging of individual mitochondria in single mouse Purkinje neurons in culture. Mitochondrial depolarization was induced immediately when the cytosolic free Ca(2+) concentration ([Ca(2+)](i)) exceeded 15 microM and was associated with oxidation of mitochondrial NAD(P)H, suggesting that Ca(2+)-induced mitochondrial depolarization mediated by the Ca(2+) uniporter directly facilitated oxidation of NAD(P)H. With the use of a miniature oxygen electrode, we detected a burst of oxygen consumption within 0.2s after the onset of cell depolarization in single Purkinje neurons, and this rapid increase in oxygen consumption was dependent on the increase in [Ca(2+)](i). We have thus demonstrated a rapid Ca(2+)-dependent consumption of oxygen that is mediated by mitochondrial depolarization in mammalian central neurons. This process might function as a rapid feed-forward mechanism in homeostatic control of the cytosolic ATP concentration.

Animals↗
PubMedDate not supplied

Narrowing the deleted region associated with the 15q21 syndrome.

Interstitial deletions of chromosome 15q, not involving the PWS/AS region, are uncommon and poorly characterized. Few cases defined at the cytogenetic level have been reported with 15q21 deletions and characteristic facial dysmorphisms are present in all them. We report on the molecular characterization by array-CGH of a new patient with a 15q21 deletion and on the redefinition of a second patient previously studied with multicolor banding. The two deletions resulted to be similar and involve about 12 and 8 Mb, respectively. Our study might promote to delineate a better genotype-phenotype correlation associated with 15q21 deletions.

Abnormalities, Multiple↗
PubMed2004

Anti-NK cell treatment induces stable mixed chimerism in MHC-mismatched, T cell-depleted, nonmyeloablative bone marrow transplantation.

OBJECTIVE: To clarify natural killer (NK) cell-mediated resistance under cytoreductive conditioning and T cell-depleted bone marrow transplantation, we investigated the effects of host NK cell depletion on engraftment and induction of stable mixed chimerism. METHODS: BALB/c mice (H-2kd) were injected intraperitoneally with anti-asialoGM1 antibody (anti-NK Ab) on day -1. On day 0, they received total body irradiation (TBI) at a dose of 500 cGy, followed by intravenous infusion of 2 x 10(7) T cell-depleted (TCD) bone marrow cells from C57BL/6 mice (H-2kb). Early engraftment and chimerism were determined by the relative ratio of peripheral blood (PB) lymphocytes expressing either H-2kd or H-2kb on day +21. Long-term engraftment and chimerism were evaluated on PB and spleen by multicolor flow cytometry. RESULTS: Although no recipients treated with TBI alone showed engraftment, all the recipients conditioned with anti-NK Ab and TBI showed successful engraftment as well as a donor-dominant pattern of mixed chimerism in both PB and spleen. Spleen cells from recipients with mixed chimerism showed specific tolerance to both host and donor strains, but not to a third party (C3H/He). None of the reconstituted mice showed signs of graft vs host disease, and all survived up to day +330. CONCLUSION: These observations indicate that host NK cell depletion may be used to reduce the intensity of conditioning regimens for engraftment of TCD grafts, and can contribute to establishment of stable mixed chimerism in major histocompatibility complex-mismatched nonmyeloablative transplantation.

Animals↗
PubMed2004

Meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers.

OBJECTIVE: To determine the meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers. DESIGN: Analysis of sperm nuclei by fluorescence in situ hybridization (FISH). SETTING: Franche-Comté University Fertility Center in Besançon, France. PATIENT(S): Two oligospermic brothers with a (7;8) translocation. INTERVENTION(S): Dual FISH for chromosomes 7 and 8, and multicolor FISH for chromosomes X, Y, 15, and 18 were performed. MAIN OUTCOME MEASURE(S): Meiotic segregation differences between both brothers and controls. RESULT(S): In dual FISH 7-8, a total of 34527 (older brother) and 10023 (younger brother) spermatozoa were analyzed. The frequencies of alternate, adjacent 1, adjacent 2, and 3:1 segregations and diploidies were 56.7%, 25.1%, 11.1%, 7.06%, and 0.04%, respectively, in the older brother and 62.84%, 17.61%, 12.8%, 6.47%, and 0.28% in the younger. Also, the disomy rates of some chromosomes not implicated in the translocation would suggest a possible interchromosomal effect. CONCLUSION(S): The similar segregation profiles for the same translocation, compared with those very divergent profiles of the other cases of studied translocations that were published in the literature, confirm that the risks of meiotic imbalances vary primarily according to the characteristics of the chromosomes involved in the rearrangement and the breakpoint position.

Adult↗
PubMed2006

Aneuploidy screening in a coelomic sample from a missed abortion using sequential fluorescence in situ hybridization.

OBJECTIVE: To investigate the incidence of aneuploidy by using sequential interphase fluorescence in situ hybridization (FISH) in an uncultured coelomic fluid sample from a missed abortion. DESIGN: Case report. SETTING: Fetal medicine and gynecology departments of two university hospitals. PATIENT(S): A 33-year-old woman with a missed abortion. INTERVENTION(S): Molecular cytogenetic analysis was performed on coelomic fluid cells and placental tissue by applying a multicolor probe for chromosomes 13, 16, 18, 21, and 22 in a first layer of hybridization, followed by a triple-color probe for chromosomes X, Y, and 18. MAIN OUTCOME MEASURE(S): Analysis of limited number of coelomic cells by using sequential FISH. RESULT(S): The results showed trisomy 13 in 92% of nuclei. Diploid cells were observed at low levels (4%), but these were caused by maternal cell contamination, as revealed after reprobing with the X,Y,18 triple-color probe set. The result also was confirmed in the placental tissue. CONCLUSION(S): We conclude that sequential FISH analysis can overcome problems associated with limited cell numbers, accurately detect aneuploidy, and distinguish between maternal cell contamination and genuine mosaicism in coelomic cells and placental tissue from missed abortions. It also has the potential to be applied for rapid aneuploidy screening in clinical cases after coelocentesis and to be used for follow-up analysis of pregnancies established after preimplantation genetic screening.

Abortion, Missed↗
PubMed2003

Susceptibility of a native and an exotic lady beetle (Coleoptera: Coccinellidae) to Beauveria bassiana.

The exotic multicolored Asian lady beetle, Harmonia axyridis, became established and recently spread across much of North America and southern Canada. In a habitat now used by both the invading H. axyridis and a native lady beetle, Olla v-nigrum, we discovered that the native lady beetle was commonly infected by Beauveria bassiana; whereas, the exotic H. axyridis, was not. Laboratory assays revealed that B. bassiana isolates collected from naturally infected O. v-nigrum were pathogenic to adult O. v-nigrum but not to adult H. axyridis. In contrast, the GHA strain of B. bassiana was not significantly pathogenic to O. v-nigrum nor H. axyridis. Late-season field collections revealed significantly higher B. bassiana infection of O. v-nigrum than H. axyridis. Our results lead us to hypothesize that low susceptibility of H. axyridis to B. bassiana (found to infect O. v-nigrum) may provide an intraguild advantage to H. axyridis over O. v-nigrum; this may also occur with other species of native lady beetles and other endemic entomopathogens in different habitats and regions.

Animals↗
PubMed2004

Crystal structure of the 270 kDa homotetrameric lignin-degrading enzyme pyranose 2-oxidase.

Pyranose 2-oxidase (P2Ox) is a 270 kDa homotetramer localized preferentially in the hyphal periplasmic space of lignocellulolytic fungi and has a proposed role in lignocellulose degradation to produce the essential co-substrate, hydrogen peroxide, for lignin peroxidases. P2Ox oxidizes D-glucose and other aldopyranoses regioselectively at C2 to the corresponding 2-keto sugars; however, for some substrates, the enzyme also displays specificity for oxidation at C3. The crystal structure of P2Ox from Trametes multicolor has been determined using single anomalous dispersion with mercury as anomalous scatterer. The model was refined at 1.8A resolution to R and Rfree values of 0.134 and 0.171, respectively. The overall fold of the P2Ox subunit resembles that of members of the glucose-methanol-choline family of long-chain oxidoreductases, featuring a flavin-binding Rossmann domain of class alpha/beta and a substrate-binding subdomain with a six-stranded central beta sheet and three alpha helices. The homotetramer buries a large internal cavity of roughly 15,000 A3, from which the four active sites are accessible. Four solvent channels lead from the surface into the cavity through which substrate must enter before accessing the active site. The present structure shows an acetate molecule bound in the active site with the carboxylate group positioned immediately below the flavin N5 atom, and with one carboxylate oxygen atom interacting with the catalytic residues His548 and Asn593. The entrance to the active site is blocked by a loop (residues 452 to 461) with excellent electron density but elevated temperature factors. We predict that this loop is dynamic and opens to allow substrate entry and exit. In silico docking of D-glucose in the P2Ox active site shows that with the active-site loop in the closed conformation, monosaccharides cannot be accommodated; however, after removing the loop from the model, a tentative set of protein-substrate interactions for beta-D-glucose have been outlined.

Amino Acid Motifs↗
PubMed2004

Phenotypic changes associated with advancing gestation in maternal and fetal baboon lymphocytes.

Baboons are very similar to humans in ontogeny, reproductive physiology, and placentation, and thus serve as an excellent nonhuman primate model for use in both normative and perturbation studies of pregnancy that cannot be performed on pregnant women. However, little is known about the changes induced by normal pregnancy in the maternal and fetal baboon in lymphocyte subset composition, and lymphocyte activation and proliferation. We performed multicolor flow cytometry analysis of peripheral venous blood samples obtained from pregnant baboons at mid-gestation (0.5 G), and from matched fetal heart (FH) and umbilical cord (UC) blood at the end of gestation (0.95 G). Compared with their mothers at 0.95 G, fetal lymphocytes had higher percentages of B and CD4+ T cells, and lower numbers of NK and CD8+ T cells. When comparing pregnant baboons at 0.5 and 0.95 G, we also found that pregnancy induces immune stimulation, measured as higher activation without proliferation of CD8+ T and NK cells in the maternal circulation. Our study adds new data to support the notion of pregnancy-induced immune activation and strengthens the value of the baboon as a nonhuman primate model for studies pertinent to human reproductive physiology, pathology, and vaccination.

Animals↗
PubMed2006

Distribution of simian immunodeficiency virus target cells in vaginal tissues of normal rhesus macaques: implications for virus transmission.

Most new cases of HIV-1 infection occur as the result of vaginal transmission. Identifying the phenotype and distribution of potential viral target cells in the vagina is important for understanding events in viral transmission and for developing effective prevention strategies. For example, compounds that prevent CD4 or CCR5 binding have been demonstrated recently to prevent vaginal transmission in rhesus macaques, but the expression and distribution of CCR5 has not been examined in the macaque vagina. The objective of this study was to examine the distribution and phenotype of cells and molecules in the vagina of rhesus macaques that may be involved in HIV transmission, including CCR5, CD3, CD4, CD8, CD1a, CD28, CD95, CD123 and HLA-DR. Normal juvenile and adult female rhesus macaques were examined by multicolor immunohistochemistry and flow cytometry. Although both CD4 and CCR5 were observed in the lamina propria, essentially no CD4 or CCR5 expression was detected within the squamous or keratinized layers of the vaginal epithelium. CCR5 expression was higher in the vaginal lamina propria of mature macaques compared to 1-3-year-old juveniles. The vast majority of CD4(+)CCR5(+) lymphocytes in the vagina had a central memory (CD95(+)CD28(+)) phenotype. Numerous CCR5-expressing dendritic cells (CD123(+)) or macrophages (CD68(+)) were observed in the lamina propria, but no CCR5, CD4 or DC-SIGN expression was detectable in the epithelium. Thus, the multiple layers of squamous epithelium normally covering the vaginal mucosa may provide an effective barrier against vaginal HIV-1 transmission. Microbicides that block CD4 or CCR5 expression may act within the deeper layers of the vaginal epithelium rather than on the epithelial surface.

Animals↗