1/13. An infant with Turner-Down aneuploidy and massive capillary hemangioma of the orbit: a case report with review.We report on a case of double aneuploidy involving Down and Turner cell lines in a female child with a massive capillary hemangioma of the left orbit and mild clinical features of down syndrome. Cytogenetic findings with G-banding revealed mosaicism in her peripheral blood, i.e. mos45,X[48]/47,XX, 21[28]/46,XX[12/47,XXX[12]. mosaicism of such nature is rare and to our knowledge the present case is the first reported of Turner-Down double aneuploidy mosaicism associated with an orbital capillary hemangioma. An annotated bibliography of earlier reported cases with documented karyotyping is also included.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/13. SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers.A 7-month-old boy with developmental delay and congenital abnormalities and a 58-year-old man with mental retardation, impaired speech, and dysmorphic features were referred for cytogenetic studies. The peripheral blood chromosome studies of Patient 1 had a de novo mosaic karyotype with 2-6 supernumerary marker chromosomes. Patient 2 had a mosaic karyotype with 1-5 supernumerary marker chromosomes and normal cells. All markers appeared to have a centromere by C-banding and also by fluorescence in situ hybridization (FISH) using all centromere probe for Patient 1. The majority of the markers appeared like rings. Except for one marker in Patient 1 and 2-3 markers in Patient 2 with discernible >5 Mb euchromatin, the rest of the markers were minute and some appeared to have barely discernible euchromatin in C-banding or FISH. spectral karyotyping (SKY) was attempted to determine the origin of the marker chromosomes. Because some markers had barely any euchromatin, their classification was not clear cut and they were identified as derived from more than one chromosome. The SKY classification of the markers in Patient 1 was 1, 3, 5, 7, 11, 15, and 22 and in Patient 2 was 1, 5, 6, or 7. Patient 2 was lost to further follow-up studies. To confirm the recurring SKY classifications in Patient 1, centromere probes for chromosomes 1, 3, 5, 7, 11, 15, and 22 were used. The markers were negative for 1, 3, and 11 but positive for 7, 15, and 22 and probably 5. Since 5 centromere probe cross hybridizes with 1 and 19, the weak signal on the marker/s in successive hybridization did not give a definitive answer. Also, the 5 paint probe was not conclusive because of the minute size of the marker. In some metaphases, two markers were derived from 5 or 22. For clinical considerations, the marker derived from 7, although variable in size, appeared to consistently have euchromatin, followed by 15, while 22 and 5 markers were mostly centromeric heterochromatin. The elastin gene probe that maps to 7q11.23, SNRPN gene that maps to 15q11.2, and TUPLE gene that maps to 22q11.2 did not give a signal on the markers. As expected for a majority of ring chromosomes, the pan telomere probe did not hybridize to any of the markers. This highly unusual karyotype was confirmed in the buccal epithelium using a mix of centromere 7 and 15 probes and the combination 14/22 probe. The ratio of additional FISH signals in the buccal mucosal cells was comparable to the ratios observed in the peripheral blood. In this study, we have attempted to consolidate the data on >/=2 marker cases to understand the analysis constraints, the range of clinical abnormalities, and the mechanisms involved. The literature was surveyed for multiple markers cases. A majority of the reported cases had two markers, either derived from the same chromosome or from two different chromosomes or two cell lines with different markers derived from the same chromosome. Cases with three or more markers were rare. The nature and extent of euchromatin content of the multiple markers appears to determine the phenotype. Frequently, multiple marker cases had small to minute markers. The clinical presentation varied from mild to severe. While two bisatellited markers may be associated with infertility, the phenotype in other cases ranged from borderline intelligence and mild dysmorphism to developmental delay, mental retardation, and congenital abnormalities.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/13. Acinar cell carcinoma of the pancreas. Report of two cases with complex histomorphologic features causing diagnostic problems.Two pancreatic acinar cell carcinomas with distinctive morphologic features are described. Both tumors showed a variable combination of different histomorphologic patterns formed by tumor cells in different degrees of acinar differentiation. They caused diagnostic problems involving differential diagnosis from normal pancreas and from mixed acinar-endocrine tumor. The presence of mitosis, nuclear atypia, and tumor necrosis are helpful for recognizing its neoplastic nature, and the ultrastructural finding of zymogen-like but not neurosecretory granules prevented the misdiagnosis of a mixed acinar-endocrine tumor. Immunohistochemical studies revealed variable immunostaining patterns corresponding to different types of tumor cell present. Both tumors were found to be aneuploid by flow cytometric dna study. Our study confirmed previous observations that pancreatic acinar cell carcinomas are highly malignant tumors in spite of the fact that they can differentiate into highly differentiated acinar cells.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/13. Two cases of tetrasomy 9p syndrome with tissue limited mosaicism.tetrasomy of short arm of chromosome 9 constitutes a clinically recognizable chromosomal syndrome. Isochromosome 9p shows a strong propensity to tissue-limited mosaicism. It occurs predominantly in peripheral blood cultures, often at a lower frequency or even absent in skin, amniotic fluid or chorionic villous cell cultures. Tissue-limited nature of mosaicism may render prenatal detection of this condition very difficult. Herein, we report two new cases of mosaic tetrasomy 9p. Conventional cytogenetics (CC) and FISH studies demonstrated a differential expression of the mosaicism in several tissues. We review the literature and discuss the implications of these findings in cytogenetic prenatal diagnosis.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/13. Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p.Two patients with mosaicism for tetrasomy 12p are described. One was diagnosed at the age of 14 years with severe mental retardation and other dysmorphologic findings and abnormal skin pigmentation. Chromosome analysis of a blood sample showed a normal female karyotype. A skin biopsy specimen showed mosaicism for a marker chromosome. The other patient was diagnosed prenatally, from a chorionic villus sample, but only in the direct preparation. mosaicism for a marker chromosome was demonstrated. The ultrasound examination revealed no abnormalities. Multicolor and multiband fluorescence in situ hybridization analyses showed that the marker chromosome was derived from chromosome 12p, which confirmed the diagnosis of Pallister-Killian syndrome in both patients. To our knowledge, this is the first report of the use of these fluorescence in situ hybridization techniques in Pallister-Killian syndrome whereby the nature of the marker chromosome could be confirmed to be derived from chromosome 12p.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/13. cytogenetics of pineoblastoma: four new cases and a literature review.Pineoblastoma represents a class of primitive neuroectodermal tumors (PNET) with poorly differentiated neuroepithelial cells that are histologically indistinguishable from medulloblastomas. It is a rare tumor, typically arising in childhood, and to date only a few cytogenetic cases have been published. We report four new cases in which conventional cytogenetics demonstrated the presence of an abnormal clone. The tumors showed a variety of ploidy levels, from hypodiploid to hypertetraploid. Both structural and numerical aberrations were frequent, and in three out of the four cases a large degree of cell-to-cell variation was observed. The most frequently involved chromosome in structural rearrangements was chromosome 1, observed in three of the four cases. The short arm was involved in two of the three cases; in the third case, the anomaly was in the long arm. Two cases showed unbalanced gain of chromosome 17q, one of them showing i(17)(q10). Together, the four cases illustrate the complex karyotypic nature of this tumor type and represent a step toward determining whether a nonrandom cytogenetic picture exists and how this may be related to other associated tumor types.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/13. Small marker chromosomes in a series of 1,000 prenatal diagnoses by amniocentesis.We diagnosed two small marker chromosomes in a series of 1,000 prenatal cytogenetic studies of amniotic fluid cells. Each of these chromosomes was analyzed with various staining techniques in order to determine its structure and the possible mechanism of its formation. On the basis of the results thus obtained and the familial nature of these abnormalities, we predicted phenotypically normal fetuses in both cases. Postnatal follow-up confirmed this. Notwithstanding the correct diagnoses made in these two cases, we feel that a more substantial body of literature on this type of anomaly must become available before it will be possible to give firm genetic counselling in such cases.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/13. Dedifferentiated parosteal osteosarcoma of the femur with aneuploidy and lung metastases.In this report, the pathologic findings and the results of cellular dna measurements of a tumor that on first presentation seemed to be a classical parosteal osteosarcoma are described. After resection 8 months later, part of the tumor appeared to display highly malignant features. dna flow cytometry of this part of the tumor showed an aneuploid cell population. The aggressive nature of the tumor was confirmed by the development of lung metastases approximately 1 year after resection of the primary tumor.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/13. dna in Lennert's lymphoma. Report of a case with cytophotometric studies.We present the first case of Lennert's lymphoma in which cytophotometric determinations for dna contents are undertaken. dna Histograms of lymphoid cells, Immunoblasts, and epitheloid cells are evaluated for their euploid or aneuploid dna contents. The aneuploid dna stem line pattern found in the case under discussion testifies to the malignant nature of Lennert's Lyphoma.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/13. dna aberrations in the epithelial cell component of adamantinoma of long bones.adamantinoma of long bones is a rare malignant tumor composed of cells with epithelial characteristics in various differentiation patterns surrounded by fibrous cells. Evidence as to whether this neoplasm should be designated as an epithelial bone tumor or a biphasic sarcoma with both epithelial and mesenchymal features is lacking. In this study the nature of the mesenchymal and epithelial components of adamantinoma was investigated by dna flow cytometry, dna image cytometry, p53 immunohistochemistry, and polymerase chain reaction-based loss of heterozygosity detection at the p53 locus. Specimens from 6 of 15 patients (40%) analyzed by flow cytometry had an aneuploid dna index. image cytometry analysis of Feulgen-stained paraffin sections of 6 aneuploid and 2 diploid tumors revealed that aneuploid nuclei were detected in cells with an epithelial phenotype only, whereas all fibrous cells were diploid. immunohistochemistry for p53 on specimens from 25 patients revealed moderate or strong immunoreactivity in 12 tumors (48%) restricted to the epithelial cells. loss of heterozygosity at the p53 locus could be confirmed in the epithelial component of an immunohistochemically p53-positive tumor. Additionally, sections of 7 lung metastases were studied histologically. Only keratin-positive epithelial cells, predominantly in the spindle cell pattern, were present in these metastases, whereas the osteofibrous tissue present in the primary tumors was not detected. These results suggest that either adamantinoma consists of a malignant epithelial part with a reactive osteofibrous stroma or that the malignant epithelial cells develop next to a proliferating benign fibrous component. Additional analysis of common genetic abnormalities in the fibrous and epithelial cells of adamantinoma is therefore indicated.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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