Cytogenetic information on chordomas is rudimentary and restricted to GTG-banding analysis of 26 cases worldwide. In this study, we present the chromosomal imbalances detected in a series of 16 chordomas (10 sacrococcyeal, five sphenooccipital, and one spinal) from 13 patients using comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). On average, 3.2 losses and 4.2 gains were detected per tumor. The most common DNA copy number alterations were losses on chromosomal arms 3p (50%) and 1p (44%). Losses of 3p were detected in five of seven primary chordomas. Therefore, the loss of 3p might be an early event in chordoma genesis. The most common gains involved 7q (69%), 20 (50%), 5q (38%), and 12q (38%). Additionally, we raised the first human chordoma cell line, U-CH1, from a recurrence of a sacral chordoma. U-CH1 and its parent tumor had almost the same CGH profile. According to GTG-banding and multicolor FISH, U-CH1 has the following clonal chromosomal abnormalities: der(1)t(1;22), del(4), +del(5), +del(6), +7, del(9), del(10), +der(20)t(10;20), +21. Thus, the novel permanent human chordoma cell line U-CH1 has chordoma-typical cytogenetic aberrations. Our data suggest that tumor suppressor genes or mismatch repair genes (located at 1p31 and 3p14) and oncogenes (located in 7q36) might be involved in chordoma genesis.
We screened 26 ependymomas in 22 patients (7 WHO grade I, myxopapillary, myE; 6 WHO grade II, E; 13 WHO grade III, anaplastic, aE) using comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). 25 out of 26 tumors showed chromosomal imbalances on CGH analysis. The chromosomal region most frequently affected by losses of genomic material clustered on 13q (9/26). 6/7 myE showed a loss on 13q14-q31. Other chromosomes affected by genomic losses were 6q (5/26), 4q (5/26), 10 (5/26), and 2q (4/26). The most consistent chromosomal abnormality in ependymomas so far reported, is monosomy 22 or structural abnormality 22q, identified in approximately one third of Giemsabanded cases with abnormal karyotypes. Using FISH, loss or monosomy 22q was detected in small subpopulations of tumor cells in 36% of cases. The most frequent gains involved chromosome arms 17 (8/26), 9q (7/26), 20q (7/26), and 22q (6/26). Gains on 1q were found exclusively in pediatric ependymomas (5/10). Using FISH, MYCN proto-oncogene DNA amplifications mapped to 2p23-p24 were found in 2 spinal ependymomas of adults. On average, myE demonstrated 9.14, E 5.33, and aE 1.77 gains and/or losses on different chromosomes per tumor using CGH. Thus, and quite paradoxically, in ependymomas, a high frequency of imbalanced chromosomal regions as revealed by CGH does not indicate a high WHO grade of the tumor but is more frequent in grade I tumors.
Between 1955 and 1963, millions of children and adults were exposed to SV40-contaminated poliovirus vaccines. The oncogenic potential of this polyomavirus was revealed when intracerebral inoculation of SV40 into newborn hamsters resulted in the development of ependymomas and choroid plexus papillomas. Subsequently, SV40-like sequences were repeatedly detected in human ependymomas with broadly ranging incidence rates of 7-90%. Most epidemiological studies, however, have not described an increased occurrence of ependymomas. To gain more data on this controversial issue, this study examined 62 archived ependymal tumours from 31 children and 31 adults who underwent surgery between 1990 and 1999. Only three (5%) of the tumours--including 24 classical, 20 anaplastic, and 12 myxopapillary ependymomas; one subependymoma; and five ependymoblastomas--revealed subgenomic SV40 sequences. None of the ependymomas in patients born between 1920 and 1960 demonstrated SV40-like sequences. The positive tumours represent 7% of grade II and III ependymomas (two paediatric and one adult tumour). DNA sequencing of the PCR product revealed identical sequences of SV40 in the positive ependymal tumours. Compared with the results from other countries, this incidence rate is relatively low. Therefore, it seems likely that significant differences between individual countries exist regarding the prevalence of SV40-positive ependymomas. These differences may reflect different degrees of exposure to SV40-contaminated polio vaccine.
May 2004: We present the case of a male newborn (38th week of gestation) with a 3-week history of a sonographically detected parietal mass of 5-cm diameter. The entire mass was removed at surgery. Surprisingly, microscopy revealed an intracerebral hemorrhage and nests of glycophorin-A immunoreactive blasts and nucleated erythrocytes in the surrounding parenchyma. The final diagnosis was chronic intracerebral hemorrhage of unknown etiology with reactive changes of the surrounding brain tissue and perifocal extramedullary erythropoiesis. This case is unique because, to date, intracranial extramedullary erythropoiesis has only been described in chronic subdural hemorrhage.
Using comparative genomic hybridization (CGH), we present a genome-wide screening of a mixed mesenchymalepithelial hepatoblastoma, its recurrence and 2 novel hepatoblastoma cell lines raised from the ascites, 18 (HepU1) and 23 (HepU2) months after diagnosis of a hepatoblastoma in a 35-month-old boy. Both cell lines were also characterized by GTG-banding, multicolor-fluorescence in situ hybridization (M-FISH) and multicolor banding (M-Band). On the basis of CGH, we compared the cytogenetics of histologically different tumor areas of the parental tumor and its recurrence with the hepatoblastoma cell lines. We found different CGH profiles in the parental tumor rev ish enh(1q31-q32,8p,12,17,20,X), dim(4q34 -q35,18q23)[cp] and its recurrence rev ish enh(8q24,17,Xq26 -q28), dim(7q11.2-q21,13q34) [cp]. Although both epithelial cell lines were obtained at different times and the clonal ancestor of HepU2 had been exposed to a higher cumulative dose of chemotherapy, HepU1 and HepU2 have an identical karyotype: 48-56,XY,؉Y,dup(2)(q32-q34),t(3;4)(q21;q34),؉8,؉12,؉13, ؉17,؉t(18;19) Key words: hepatoblastoma; cytogenetics; CGH; M-FISH; M-BandConventional cytogenetics 1-8 and comparative genomic hybridization (CGH) 9 -14 data exist for 172 hepatoblastomas. In 47% of hepatoblastomas, both methods detected a gain of chromosomal material on the long arm of chromosome 2. On the basis of CGH (n ϭ 120), 9 -14 gains of 2q (47%) were followed by gains on 1q (43%), 8q (15%), 17q (15%) and 20 (25%), whereas losses affected 4q (9%) most frequently. Chromosomal breakpoints were located most frequently at 1q (25%), 2q (39%) and 4q (25%). [1][2][3][4][5][6][7][8] Two CGH-based studies focused on the clinical relevance of specific cytogenetic events and demonstrated that gains of 2q, 8q and 20 were of unfavorable prognostic potential. 11,14 Cytogenetically or interphase-cytogenetically characterized human hepatoblastoma cell lines are rare (n ϭ 5). 14 -19 These cell lines were cytogenetically heterogeneous, except for gains of chromosomal material on chromosome 20 (Table I).We present a comprehensive cytogenetic study of 1 mixed mesenchymal-epithelial hepatoblastoma with the focus on genetic microheterogeneity and histologic features of the parental tumor and 2 cell lines raised out of it. All chromosomal imbalances typically seen in hepatoblastomas were detected in at least small subpopulations of embryonal or fetal differentiation of the hepatoblastoma. Both hepatoblastoma cell lines, HepU1 and HepU2, had stable clonal chromosomal imbalances emerging as typical of hepatoblastoma and, in parallel, closely resemble the fetal-embryonal differentiation in genotype, three-dimensional phenotype and growth in vitro. MATERIAL AND METHODS Tumor samples and cell linesA mixed mesenchymal-epithelial hepatoblastoma was diagnosed in a 35-month-old boy. The patient received chemotherapy according to the HB94-study protocol. 21 The follow-up period was 24 months. The clinical course is summarized in Table II. The patient's parents gave their informed con...
Based on our previous observations that neuroblastoma (NB) cells express fibroblast growth factor-2 (FGF-2; basic FGF) and respond to it [Janet T. et al. (submitted); Wewetzer K. et al. (1993) J. Neurosci. Res. 36, 209-215), we attempted to find to what extent selected cytokines [interleukin (IL)-1 beta and interferon gamma (IFN gamma)] may modulate FGF-mediated proliferative activity and differentiation. The NB cell lines IMR-32, SH-SY5Y, GIMEN and LAN-1 and colorimetric assays were used for the determination of cell numbers. IL-1 beta (and several other ILs, including IL-1 alpha, -2, -3, and 6) per se did not affect proliferation of any cell line studied. IFN gamma inhibited growth of GIMEN and LAN-1 cells, but was uneffective on IMR-32 and SH-SY5Y cells. FGF-2 was antimitogenic for GIMEN cells. IFN gamma reversed and IL-1 beta enhanced this antimitogenic effect of FGF-2. FGF-2 per se did not affect LAN-1 cells and did not modulate the growth inhibitory actions of IFN gamma on these cells. FGF-2 induced proliferation of IMR-32 and SH-SY5Y cells. This effect was not modulated by IFN gamma or IL-1 beta. These results suggest a heterogeneous response pattern of human NB cell lines towards the cytokines studied and complex interactions of FGF-2, IL-1 beta and IFN gamma.
Dendriform pulmonary ossification (DPO) represents a relatively frequent form of diffuse pulmonary and mostly clinically inapparent bone formation of unknown etiology. An association with other pulmonary diseases, particularly pulmonary interstitial fibrosis, has been suggested. Here we report a female patient with a 15-year history of DPO whereby at the age of 48 an X-ray of the thorax first revealed findings suggestive of pulmonary fibrosis. For 9 years the patient suffered from chronic progressive ventilation disorder and after a further 3 years open lung biopsy revealed DPO in conjunction with interstitial fibrosis. After a history of progressive respiratory failure the patient suddenly died of cardiac arrhythmia along with deteriorated cor pulmonale at the age of 71. Autopsy revealed an almost complete ossification of the lungs with an increasing gradient from apex to base. In contrast to previous reports, the DPO of our patient was life-limiting.
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