1/12. Spinal atypical teratoid/rhabdoid tumor in an infant.Atypical teratoid/rhabdoid tumor of the central nervous system in infancy and childhood was established as an entity based on histological, immunohistochemical, and cytogenetic studies. We report the case of a 7-month-old girl who presented with progressive paraplegia and hypesthesia of her legs. Imaging studies revealed a spinal cord mass occupying the entire spinal canal below the T(7) level. Through a T(12)-L(3) laminectomy, the intramedullary tumor was partially debulked. Histologically, the tumor specimen had rhabdoid cells, and immunostaining showed vimentin and cytokeratin positivity. No abnormality of chromosome 22q was detected with the fluorescence in situ hybridization method.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/12. fibrosarcoma associated with a benign cystic teratoma of the ovary.OBJECTIVE: A case of ovarian fibrosarcoma associated with a benign cystic teratoma is described. methods: A 32-year-old patient with an ovarian tumor detected by routine gynecological examination was referred to our hospital. In addition to histopathological examination of the resected tumor, immunohistochemical studies as well as a cytogenetic analysis by comparative genomic hybridization were carried out. RESULTS: The 7-cm-sized tumor consisted of two different components: a fibrosarcoma and a benign cystic teratoma. The teratoma contained elements of all three germ layers and lacked any focus of immature teratoma. A fibrosarcoma was immediately connected to the teratoma. The sarcoma cells showed eight mitoses per 10 high-power fields on average and exhibited immunohistochemical reactivity for vimentin only. cytogenetic analysis of the fibrosarcoma using comparative genomic hybridization revealed imbalances of chromosomes 9, 12, and 16. After a 1-year follow-up, there were no signs of tumor recurrence or systemic disease. CONCLUSION: To the authors' knowledge, this is the second report of an association of ovarian fibrosarcoma and benign cystic teratoma, and the first including a cytogenetic analysis.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
3/12. Comprehensive cytogenetic evaluation of a mature ovarian teratoma case.Mature ovarian teratomas are benign ovarian germ cell tumors that usually present with a normal karyotype. There are very few reports describing chromosomal abnormalities in these tumors, none of which are recurrent. In this study we report on a mature teratoma case with clonal chromosomal alterations which include monosomies of chromosomes 6, 14, 16, and 21; trisomies of chromosomes 14 and 21; and deletions of Xq, 5p, 16p, and 17p. comparative genomic hybridization evaluation of the sample revealed a normal profile. These findings are discussed together with the cytogenetic reports on other cases of ovarian teratomas described in the literature.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/12. comparative genomic hybridization and pathological findings in atypical teratoid/rhabdoid tumour of the central nervous system.The atypical teratoid/rhabdoid tumour (AT/RT) is an uncommon tumour of the central nervous system in children, characterized by the presence of a rhabdoid cell component associated with variable combinations of primitive neuroectodermal tumour, mesenchymal and epithelial differentiation. immunohistochemistry reveals a complex pattern of antigen expression and cytogenetic studies have demonstrated losses from chromosome 22. We have performed comparative genomic hybridization (CGH) on paraffin-embedded material from three cases of AT/RT. Two cases showed losses from chromosome 22 associated with other chromosome imbalances including losses from 1p in both cases. The third case demonstrated a loss from 8p as the sole abnormality. While monosomy or deletion from chromosome 22 is a useful diagnostic marker for AT/RT, it is not present in all cases. The variation in cytogenetic patterns reported for this tumour type raises the possibility that different genetic pathways may underlie this tumour phenotype and warrants the further definition of the cytogenetic spectrum for this rare tumour.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
5/12. Evidence of parthenogenetic origin of ovarian teratoma: case report.This case report represents one of the few documented cases of parthenote embryo retrieval from an IVF patient with a history of ovarian teratomas. A 29-year-old woman presented at our centre with a history of primary infertility for 6 years due to male factor. She had undergone left oophorectomy 4 years before due to an ovarian teratoma. An ultrasound scan performed during basal evaluation revealed two complex images in the right ovary suggesting teratomas, measuring 2.5 x 2.4 and 1.7 x 1.3 cm. A significant extent of sonographically normal ovarian parenchyma was present, and the patient underwent the long leuprolide acetate protocol of ovarian stimulation with recombinant FSH for an IVF-ICSI cycle. She had 13 metaphase II (MII), four metaphase I (MI), two germinal vesicle (GV) oocytes and one 4-cell embryo retrieved. Eight out of nine injected oocytes were fertilized normally while one was unfertilized. embryo transfer was carried out 72 h after retrieval. The 4-cell (parthenote) embryo recovered at oocyte retrieval continued to cleave in culture, developing into a 7-cell embryo by the next day. The embryo was morphologically normal, presenting an evident nucleus in each blastomere. Fluorescent in situ hybridization (FISH) returned two signals for the x chromosome in each blastomere that was analysed. Of the eight normally fertilized embryos, three were transferred, resulting in a normal singleton pregnancy and the birth of a healthy baby.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/12. Novel karyotypic changes detected by comparative genomic hybridization in a case of congenital cervical immature teratoma.BACKGROUND: Cervical immature teratoma is a rare congenital tumor, and very few cases have been studied cytogenetically. CASE: In this article, we describe a case of this tumor type and present the findings of the karyotype of the lesion, which was performed with the bacterial artificial chromosome arrays using the comparative genomic hybridization method. The chromosomal abnormalities that we found included an amplification on 1p21.1, a 9p22 deletion, and a 1-copy gain of 17q21.33. CONCLUSIONS: None of the identified chromosomal aberrations have been previously associated with congenital extragonadal teratomas. Important genes that lie in these DNA regions may be implicated in the pathogenesis of congenital teratomas.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
7/12. Extragonadal germ cell tumors are often associated with klinefelter syndrome.klinefelter syndrome is a well documented abnormality of sex differentiation, with an incidence of 1 in 600 newborn males. It is characterized by a 47,XXY or a mosaic karyotype and clinical findings of hypergonadotrophic hypogonadism, small testes, infertility, reduced body hair, gynecomastia, and tall stature. Other conditions like venous disease, autoimmune disorders, mild neurobehavioral deficit, diabetes mellitus, sexual precocity, and osteoporosis may also affect these patients. Different malignancies such as breast cancer, testicular tumors, leukemia, and lymphomas occur in 1%-2% of the cases. klinefelter syndrome has been associated with other malignancies such as extragonadal germ cell tumors; however, some authors consider this association an unusual finding. We report the molecular cytogenetic studies performed in 4 young males with mediastinal germ cell tumors. In 2 cases, a 47,XXY karyotype was recognized in different tissues by fluorescent in situ hybridization, whereas the other 2 had a normal XY karyotype. We propose that in young patients with mediastinal teratoma, a cytogenetic analysis must always be performed.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/12. Fusion of the tumor-suppressor gene CHEK2 and the gene for the regulatory subunit B of protein phosphatase 2 PPP2R2A in childhood teratoma.We characterized the molecular genetic consequences of a balanced chromosome translocation t(8;22)(p21;q12), which occurred as the sole cytogenetic aberration in short-term cultured cells from an intrathoracic mature teratoma in a 15-year-old girl. fluorescence in situ hybridization and reverse transcription-polymerase chain reaction disclosed that t(8;22) resulted in the fusion of the genes PPP2R2A and CHEK2, with an inserted fragment belonging to class I endogenous retrovirus-related sequences at the junction. Sequencing of the two genes did not reveal any additional mutation. None of the three detected PPP2R2A/CHEK2 fusion transcripts resulted in an in-frame PPP2R2A/CHEK2 chimerical open reading frame; however, in all of them, the known open reading frame of CHEK2 was preserved. Thus, promoter swapping leading to deregulated CHEK2 expression would be the most likely oncogenic mechanism. Whereas inactivating mutations of CHEK2 previously have been described in a variety of sporadic tumors and in inherited cancer-predisposing syndromes, PPP2R2A, encoding a regulatory subunit of the multimeric enzyme phosphatase 2, has not been directly implicated in tumorigenesis. Our findings suggest that deregulation of CHEK2 and/or PPP2R2A is of pathogenetic importance in at least a subset of germ cell tumors.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/12. Kaposi's sarcoma following chemotherapy for testicular cancer in a homosexual man: demonstration of cytomegalovirus rna in sarcoma cells.A 35-year-old white Jewish homosexual man who had undergone surgery and chemotherapy for an embryonal carcinoma of the testis subsequently developed Kaposi's sarcoma. The neoplasm involved the skin as well as visceral tissues. Tissue derived from a biopsy specimen of one of the skin lesions was used in the in situ hybridization technique for the detection of genetic material. cytomegalovirus messenger rna was identified in the neoplastic Kaposi cells in the skin. The significance of this finding is discussed.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/12. Sex chromosome determination in extragonadal teratomas by interphase cytogenetics: clues to histogenesis.Teratomas are neoplasms that are composed of tissues from all three germinal layers. The exact histogenetic origin of teratomas, however, is still controversial. In order to gain more insight into histogenesis of extragonadal teratomas (EGTs), the gonosomal status in 13 congenital EGTs was studied by means of interphase cytogenetics using nonradioactive in situ hybridization (NISH) with centromere-specific dna probes. By use of this technique a direct correlation of cytogenetic results with morphology was possible. In all EGTs analyzed the gonosomal status in tissues derived from the different germinal layers was identical to that of the nontumorous fetal and placental tissue. This was true irrespective of localization, age, histological type, and classification of the EGT. Our results strongly suggest that EGTs arise from pluripotent diploid precursor cells, for example, either premeiotic germ cells that have not yet undergone the first meiotic division or pluripotent ectopic embryonal or extraembryonal cells. Our data do not support the theory of parthenogenetic EGT development, at least in males.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
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