1/8. Cytogenetic profile of primary pituitary germinoma.We present a case of a germinoma in the sellar region of a 10-year-old female patient who presented with a history of polydipsia, polyuria and visual disturbances. The tumor was resected and histologically analyzed. interphase cytogenetics was performed using chromosome specific (peri)-centromeric dna probes for all the somatic and X chromosomes on fresh frozen tissues. Fluorescent in situ cell hybridization demonstrated accumulated cytogenetic abnormalities involving significant alterations of chromosome 1, 4, 5/19 and 15. The child was treated postoperatively by radiation and now appears well with only minor neurological deficits. At 3-year follow-up no recurrent tumor mass could be demonstrated.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/8. Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer.A thorough cytogenetic investigation and an analysis of detailed questionnaires were performed in a family with three brothers afflicted with germ-cell tumors (GCTs), in an attempt to detect a congenital factor related either to a hereditary genetic background or an environmental/lifestyle influence. One brother had an intracranial tumor in the pineal region and the two others had testicular tumors. Peripheral blood was studied by traditional karyotyping, multicolor-FISH, high-resolution comparative genomic hybridization (HR-CGH), and molecular analysis of selected loci on sex chromosomes (Yq11 region, TSPY, and the androgen receptor gene); however, no abnormalities were detected. The HR-CGH analysis of microdissected histological components of the overt tumors and the adjacent carcinoma in situ demonstrated a pattern of genomic imbalances characteristic for sporadic GCTs, including gain of 12p. The questionnaire and interview revealed a history of different cancers in the extended family, and a possible in utero and/or infantile exposure of the three brothers with GCTs to compounds suspected of endocrine-disrupting properties. Although no genetic aberration was detected in this family, we suspect the presence of a recessive hereditary factor pre-disposing to cancer, which probably was manifested as GCTs in the three brothers because of an adverse effect of an environmental factor on the early germ-cell differentiation.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/8. trisomy 14pter --> q21: a case with associated ovarian germ cell tumor and review of the literature.We report a patient with trisomy X and a supernumerary marker chromosome. The marker chromosome was characterized by comparative genomic hybridization and shown to be derived from chromosome 14, resulting in trisomy for 14pter --> q21. The karyotype was thus redefined as 48,XXX, mar.rev ish enh(14pterq21). The patient presented with facial dysmorphism and a high-pitched cry, exhibited severe developmental delay, and developed an aggressive ovarian immature teratoma. In this paper, we also review reports of 11 other patients with constitutional trisomy of the same chromosomal region. Previous studies have identified somatic gains of chromosome 14 in ovarian germ cell tumors. We propose that the constitutional gain of chromosomal 14 material may have predisposed to the development of this tumor.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/8. Intra-abdominal desmoid tumor following retroperitoneal lymph node dissection for testicular germ cell tumor.In the testicular cancer post-treatment setting a rapidly growing retroperitoneal mass leads to a differential diagnosis including recurrent germ cell tumor, residual mature teratoma, or sarcomatoid degeneration. We report the case of a 27-year-old man with a large abdominal mass occurring in the setting of a mixed germ cell tumor after radical orchiectomy with primary chemotherapy followed by retroperitoneal lymph node dissection. Surgical excision of this mass followed by pathological review revealed an intra-abdominal desmoid tumor. fluorescence in situ hybridization (FISH) for isochromosome 12p failed to demonstrate a germ cell tumor origin. This is the fourth such case of an intra-abdominal desmoid tumor after retroperitoneal lymph node dissection for testicular cancer in the urologic literature. This case highlights the need for careful consideration of a desmoid tumor when a rapidly growing spindle cell tumor is encountered in a post-treatment testis cancer patient.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/8. 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) |
6/8. Neuroectodermal tumor and monoclonal antibodies.Antibody-producing clones were obtained by hybridization of spleen cells from mice immunized with whole cultured human tumor cells and mouse myeloma cells, P3UX59AG8. The tumor cells were derived from a peripheral primitive neuroectodermal tumor. One of the antibodies produced by these clones reacts with the original cell line, SK-PN-DW, and other more differentiated neuroectodermal tumors such as neuroblastomas and melanomas. The cell line SK-PN-DW contains antigenic determinants recognized by monoclonal antibodies raised against melanoma, neuroblastoma, and human fetal brain. These data indicate that this primitive neuroectodermal tumor is derived from the neuroectoderm.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/8. Ovarian germ cell tumor evolving to myelodysplasia.We present the case of a 14-year-old girl in whom a myelodysplastic syndrome was diagnosed 9 months after surgical resection and chemotherapy for an ovarian germ cell tumor. cells from her marrow were characterized by trisomy 8 and an isochromosome 12p, a marker that appears to be unique to germ cell tumors. The presence of the same two anomalies in her original tumor was demonstrated by fluorescence in situ hybridization study of interphase cells in paraffin-embedded tissues and thus provided strong evidence that the two neoplasms had a common clonal origin.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/8. interphase chromosome painting of paraffin-embedded tissue in the differential diagnosis of possible germ cell tumors.Germ cell tumors (GCTs) are the most frequent cancer in men aged 15 to 34 years. These tumors are highly responsive to therapy with platinum-containing regimens, and 80% of cases so treated can be considered cured. Cytogenetically, 80% of GCTs have an i(12p) regardless of tumor site or histopathology, and those that are i(12p) negative have other manifestations of 12p amplification. GCTs occasionally arise extragonadally, and such cases can be especially difficult to distinguish from poorly differentiated somatic carcinomas, a situation that poses a diagnostic and treatment dilemma We developed a technique for two-color fluorescence in situ hybridization chromosome painting on nuclei released from paraffin-embedded sections. In four tumors for which GCT was a differential diagnosis, we examined the 12p and 12q chromosome arm distributions by this technique. By use of 12p and 12q painting probes developed by microdissection, 12p and 12q were distinguished and their relative distributions evaluated. In each of the four cases, 12p regions seemed to be rearranged and over-represented relative to 12q regions. In three of the cases, an apparent i(12p) could be identified. These results support a diagnosis of GCT or GCT origin in these four cases. In tumors for which specific cytogenetic abnormalities are known, chromosome painting by fluorescence in situ hybridization using paraffin-embedded tissue is a useful technique to aid in the diagnosis of tumors that are difficult to differentiate. The patients can then be placed on treatment regimens appropriate for their specific tumor type.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |