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PubMed1996

Infant cardiac fibroma with clonal t(1;9)(q32;q22) and review of benign fibrous tissue cytogenetics.

Cardiac fibromas are rare lesions which occur more frequently in infants and children than in the adult population. These tumors are nonmalignant proliferations of connective tissue most often found in the left ventricular myocardium or septal myocardium. No cytogenetic studies of cardiac fibromas have been reported. We report a case of an infant with a subepicardial tumor in whom the cytogenetic analysis showed a clonal reciprocal translocation, 46,XY,t(1;9)(q32;q22),inv(9)(p11q12)c. We review the literature regarding cardiac fibromas and briefly discuss the cytogenetics of benign fibrous neoplasias.

Chromosomes, Human, Pair 1↗

PubMed1996

Cytogenetic and histologic correlation of peripheral nerve sheath tumors of soft tissue.

Cytogenetic analysis was performed on 11 peripheral nerve sheath tumors of soft tissue from 10 patients. They include 6 benign and 5 malignant schwannomas. Five cases which include two benign, one cellular and two malignant schwannomas had a known association with a nerve, but only one patient with malignant schwannoma has clinically documented neurofibromatosis type I. All the patients had a normal diploid constitutional karyotype. Two cases of cellular schwannoma were analyzed by routine cytogenetic analysis and fluorescence in situ hybridization (FISH). One tumor was karyotyped as 45, XX,-13,-22 +mar; and the other case had a 45,X,-Y,t(1;17) (p12;q11.2) karyotype. In the latter, the breakpoint in 17q occurred below the centromere and is at or in the region of the Neurofibromatosis Type 1 (NF1) gene. Four benign tumors had a normal diploid karyotype. One hypodiploid malignant schwannoma with myxoid features demonstrated monosomy of chromosomes 17 and 22 by FISH analysis. The rest of the malignant schwannomas showed a wide range of numerical and structural aberrations, with frequent loss of 22q and gains of chromosomes 2 and 7. Loss of a sex chromosome was observed in cellular as well as malignant schwannomas. Regional karyotypic evolution was noted in one malignant schwannoma. Cytogenetic analysis may prove to be useful in identifying tumors, such as cellular schwannomas, which, because of their histologic features may be inadvertently categorized as malignant. Simultaneous involvement of NF1 and NF2 genes, which are located on chromosomes 17q and 22q, respectively, should be investigated at a molecular level in both benign and malignant tumors of peripheral nerves.

Adolescent↗

PubMed1996

Report of a complex karyotype in recurrent metastatic fibrolamellar hepatocellular carcinoma and a review of hepatocellular carcinoma cytogenetics.

Metastatic fibrolamellar hepatocellular carcinoma (HCC) was detected in the abdominal lymph nodes of an adolescent male after resection of the primary tumor. No dividing cells were isolated from attempted cytogenetic studies of the primary tumor. However, cytogenetic analysis of lymph node metastases detected 9 and 12 months after partial hepatectomy revealed abnormal hypertriploid karyotypes, with a suggestion of clonal evolution: 62-92 < 3n >,XX, -Y, +3, +6, +6, +7, +7, +8, +10, +13, +15, +16, +20, -21, -22, +mar1 x 2, +mar[cp6]/46,XY[8] and 78 < 3n >,XX, -Y,der(1)t(1;1)(p36.1;q21), +4, +6, +6, +7, +7,i(8)(q10), +10, +15, +20, -21, -22, +mar1 x 2, +mar2[3]/46, XY[17], respectively. Karyotypes of this variant of HCC have not been reported previously. The cytogenetics of HCC are reviewed.

Adolescent↗

PubMed1996

Genotypic characterization of a primary mucoepidermoid carcinoma of the parotid gland by cytogenetic, fluorescence in situ hybridization, and DNA ploidy analysis.

We present a case of mucoepidermoid carcinoma with t(3;12)(q24;p13) and polysomy X by cytogenetic and fluorescence in situ hybridization (FISH) techniques. Flow cytometric DNA analysis of the primary tumor showed DNA aneuploidy and analysis of cultured tumor cells showed DNA diploidy indicating restricted growth of the diploid tumor cells in short-term tissue culture. Interphase cytogenetic analysis of chromosomes 1, 3, 6-12, 16-18, and X in the primary tumor showed polysomy 1, 9, 18, and X, monosomy 8 and 17, and disomy 3, 6, 7, 10-12, and 16. Except for chromosome X, other numerical chromosomal abnormalities were not detected by conventional cytogenetic analysis. Our combined approach allowed for better characterization of the genotypic features of this neoplasm.

Aged↗

PubMedDate not supplied

Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach.

Prader-Willi syndrome (PWS) is a disorder characterized by neonatal hypotonia with poor suck, mild to moderate mental retardation, obesity beginning after 3 yr of age, hypogonadism and characteristic facial features. High resolution cytogenetic studies showed a deletion of the proximal chromosome 15q(q11-q13) region in approximately 50%. Interestingly, the same deletion was described in another distinct mental disorder: the Angelman syndrome (AS). This deletion was confirmed by molecular analyses, and a new mechanism was reported: uniparental disomy (maternal in PWS and paternal in AS) strongly implicate genomic imprinting in this chromosomal region. The principal aim of our group is to apply cytogenetic and molecular biology techniques to perform diagnosis and genetic counselling. Patient studies were usually based on high resolution cytogenetic analysis, quantitative Southern blotting (with D15S9, D15S11, D15S10, D15S12 loci) and dinucleotide repeat polymorphism assay by polymerase chain reaction (PCR) (IR4 .3R and GABARB3). The combination of these different methods allowed us to propose a diagnostic strategy for PWS.

Angelman Syndrome↗

PubMedDate not supplied

Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome.

A retrospective study was carried out in 152 infertile men to determine the prevalence of sex chromosome abnormalities among non-obstructive azoospermic and severe oligospermic men (n = 51) and to evaluate the feasibility of fluorescence in situ hybridization (FISH) techniques to assess mosaicism in Klinefelter's patients in comparison with conventional cytogenetics. Cytogenetic analysis were performed for 51 infertile men and among 14 chromosomal abnormalities found, nine were compatible with Klinefelter's syndrome. FISH staining with a CEP X/CEP Y probes were performed for Klinefelter's patients and for five of them; testes were biopsied for histopathologic examination. Six Klinefelter's patients showed a non-mosaic 47,XXY and three showed a 47,XXY/46,XY mosaic by G or R banding analysis of 20 cells with a ratio of 17%, 20% and 33%, respectively. FISH analysis confirmed mosaicism in only one patient (the first) in whom a third cells population was found. There was no relationship between the ratios of mosaicism by banding and FISH analysis. Conventional histopathologic findings in five non-mosaic Klinefelter's patients confirm the diagnosis of Sertoli Only Cells syndrome. FISH is recommended in Klinefelter's syndrome to define exactly the cytogenetic statute as mosaic or non-mosaic and then discussing prognosis and decision regarding fertility counseling.

Humans↗

PubMed2004

Comprehensive conventional and molecular cytogenetic characterization of B-CPAP, a human papillary thyroid carcinoma-derived cell line.

Cell lines derived from different thyroid tumor histotypes are useful for the in vitro study of both the phenotypic and genetic features of these cancers. Although karyotypic changes are known to be associated with thyroid lesions, the chromosome patterns of only a few cell lines have been published. Herein, we report an extensive conventional and molecular cytogenetic investigation of the human papillary thyroid carcinoma derived cell line B-CPAP. Morphological studies and expression of tumor markers in this cell line have been reported previously, but no detailed characterization on the origin of the chromosome markers is available. B-CPAP cells have a rather stable hypertriploid karyotype, with chromosome polysomies and structural chromosome abnormalities featuring whole chromosome arm imbalances. Chromosome banding revealed a main clone with nine chromosome markers, and fluorescence in situ hybridization (FISH) with whole chromosome paint (wcp), partial chromosome paint (pcp), and centromeric probes clarified their origin. The use of centromeric probes provided accurate refinement of the rearrangements classified as whole-arm translocations by banding and FISH with wcp probes. Both chromosomal and array-based comparative genomic hybridization experiments confirmed the cytogenetic characterization of this cell line. Moreover, the use of fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms (FICTION) technique, which simultaneously shows nuclear ploidy and cytoplasmic immunofluorescence, detailed the oncocytic feature of the cells. Intriguingly, despite their origin, they lack most of the features expressed in papillary thyroid tumor cells and have a chromosomal pattern reminiscent of that of a subgroup of oncocytic malignant thyroid tumors.

Carcinoma, Papillary↗

PubMed2005

Trisomy 8 as the sole cytogenetic abnormality in a case of extraskeletal mesenchymal chondrosarcoma.

Mesenchymal chondrosarcoma is a rare malignant tumor that comprises about 3-10% of all sarcomas. Reports of cytogenetic studies of mesenchymal chondrosarcoma are limited and no consistent cytogenetic abnormality has surfaced. Some mesenchymal chondrosarcomas have a t(11;22) translocation suggesting a relationship with the PNET/Ewing tumor family. We report what to our knowledge is the first case of trisomy 8 as the sole cytogenetic abnormality in a mesenchymal chondrosarcoma.

Child↗

PubMed2006

Cytogenetic anomalies in hyaline vascular Castleman disease: report of two cases with reappraisal of histogenesis.

The pathogenesis of hyaline vascular Castleman disease (HVCD) is poorly understood. Although generally considered reactive in nature, a subset of cases has been shown to harbor focal proliferations of stromal cells, such as follicular dendritic cell (FDC) and angiomyoid proliferations. We report two typical cases of HVCD with cytogenetic anomalies: one was t(1;22)(qter;q13) and the other was t(7;8)(q37.3;q12) in cultured stromal cells, as demonstrated by conventional cytogenetic analysis. The cultured cells were immunoreactive for smooth muscle actin but negative for CD21, CD31, and CD34, and ultrastructurally possessed thin filaments (5-7.5 nm) with dense bodies, and pinocytotic vesicles, characteristic of smooth muscle cells. The lack of monoclonality of lymphoid cells in lesional tissues by immunohistochemical and molecular analyses also supports the origin of these anomalies from the stromal cells, most likely myoid cells. Moreover, the absence of overt stromal proliferations suggests that cytogenetic changes in stromal cells of HVCD precede histologic evidence of stromal overgrowth, which may account for the occurrence of angiomyoid proliferations arising in some cases of HVCD. Further studies with more cases are needed to decipher whether part or even most of HVCD cases bear genetic changes in the beginning of the disease without morphologically stromal overgrowth.

Adult↗

PubMed2006

Chromosome analysis and molecular cytogenetic investigations of an epithelioid hemangioendothelioma.

Epithelioid hemangioendothelioma is a rare, well-differentiated endothelial tumor with a wide spectrum of clinical behavior and for which genetic data are extremely limited. We present a case of an epithelioid hemangioendothelioma in a 22-year-old male, which was analyzed with multiple cytogenetic approaches. Conventional cytogenetic analysis detected structural abnormalities of 11q13 and 11q14, rings, and marker chromosomes. Multi-color FISH (mFISH) and high-resolution multi-color banding (mBAND) analyses demonstrated that the aberrations of chromosome 11 were deletions and that the ring and marker chromosomes consisted of 12(q14 approximately q21) material. Comparative genomic hybridization (CGH) analysis revealed gains of 11(q13 approximately q14) and 12(q11 approximately q21), loss of 11(q21 approximately qter), and 2 amplicons at 12(q12 approximately q13) and 12(q14 approximately q21). Our data indicate that a subset of epithelioid hemangioendotheliomas may be characterized by complex rearrangements involving deletions and gains of 11q and 12q amplifications. The present case also shows that, in order to describe and understand such complex chromosome aberrations, chromosome analysis must be complemented with several molecular cytogenetic techniques.

Adult↗

PubMed2006

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.

Adolescent↗

PubMed2006

Municipal landfill leachate induces cytogenetic damage in root tips of Hordeum vulgare.

With increasing use of municipal solid waste landfills for solid waste disposal, municipal landfill leachate has become a serious concern for aquatic environments. Therefore, it is important to study its toxic effects on plants, animals, and humans. In the present study, the genotoxicity of leachate was investigated with the Hordeum vulgare root-tip cytogenetic bioassay, using Chemical oxygen demand (COD(Cr)) as a measure of leachate concentration. Leachate decreased the mitotic index (MI) in a concentration-dependent and a time-dependent manner. Compared with the negative control, reductions of MI of 37%, 56%, and 70% were detected for the highest leachate concentration (COD(Cr) 800 mg/L) in root tips treated for 24, 48, and 72 h, respectively. Leachate caused significant increases of micronucleus (MCN) frequencies in a concentration-dependent and a time-dependent manner. Among the exposure groups, COD(Cr) 40 mg/L leachate induced MCN formation after 24, 48, and 72 h of exposure, and the frequencies of MCN significantly increased with increasing concentrations of leachate from COD(Cr) 40 to 640 mg/L. In addition, pycnotic cells (PNC) occurred in root tips at all leachate concentrations tested after 24, 48, and 72 h of exposure, and PNC frequencies had a positive relation with the treatment concentration and the exposure time. The results also indicate that the concentration required to produce cytogenetic damage was lower in cells that had a longer exposure time. The results confirm that components of leachate may be genotoxic in plant cells and imply that long exposure to leachate at low concentrations in the aquatic environment may pose a potential genotoxic risk to organisms. The results suggest that the H. vulgare cytogenetic bioassay is efficient, simple, and reproducible in genotoxicity studies of leachate, and that there appears to be a correlation between the genotoxicity in a plant system and the COD(Cr) of leachate.

Cell Cycle↗

PubMed2004

Cytogenetic abnormalities and the failure of development after round spermatid injections.

OBJECTIVE: To assess cytologic and cytogenetic abnormalities following round spermatid injection. DESIGN: Prospective analysis. SETTING: In vitro fertilization centers. PATIENT(S): Fourteen couples accepted to a round spermatid injection (ROSI) and preimplantation genetic diagnosis (PGD) program after appropriate counseling. INTERVENTION(S): ROSI, PGD, with fluorescence in situ hybridization for chromosome enumeration. MAIN OUTCOME MEASURE(S): Cytologic and cytogenetic abnormalities in oocytes, zygotes, and blastomeres. RESULT(S): The fertilization rate following ROSI was 36%. Only 11 of 143 (7.7%) oocytes developed to have several blastomeres. Cytologic and cytogenetic abnormalities accounted for the vast majority of blockage at oocyte, zygote, and early mitotic division stages. Four biopsied embryos were normal. These and seven others were implanted, but no pregnancy was achieved. CONCLUSION(S): A PGD diagnosis for common aneuploidies and blastocyst stage transfer is feasible for ROSI cases. Failure with ROSI is cause primarily by chromosome abnormalities, so use of ROSI in assisted reproductive technologies should be limited.

Chromosome Aberrations↗

PubMed2006

Evaluation of recurring cytogenetic abnormalities in the treatment of myelodysplastic syndromes.

Myelodysplastic syndromes (MDS) are clinically heterogeneous, but the presence of specific cytogenetic abnormalities can predict disease manifestations, provide a basis for prognosis, and direct treatment. Conventional cytogenetic analysis is instrumental in identifying chromosomal abnormalities in MDS and novel genetic methods may provide supplementary information. Treatment with lenalidomide was recently shown to be effective in MDS, particularly in those cases with del(5q), resulting in durable cytogenetic remission and hematological responses. In this paradigm, diagnosis of the del(5q) abnormality would be essential to predicting response to therapy.

Chromosome Aberrations↗

PubMed2006

Cytogenetic analysis of sinonasal carcinomas.

BACKGROUND: Sinonasal carcinomas, including nonkeratinizing (NK) squamous cell carcinoma (SCC) and sinonasal undifferentiated carcinoma (SNUC), are uncommon malignant neoplasms arising from the Schneiderian respiratory epithelium of the nasal cavity and paranasal sinuses. Due to their low frequency, the cytogenetic data on these tumors is limited. METHODS: Seventeen patients who were operated on in our institution for extirpation of paranasal carcinomas were enrolled in this study. Fourteen pathologically confirmed samples of sinonasal carcinomas were cytogenetically analyzed using G-banding techniques after short-term culture. Three samples did not grow on culture. RESULTS: Five of the 14 sinonasal carcinomas had an abnormal karyotype (36%). Of the 9 NK SCCs, 3 had abnormal karyotypes with numerical and structural chromosomal anomalies. Of the 5 patients with SNUC, 2 had an abnormal karyotype. One case of SNUC had a diploid complex karyotype. Another case of SNUC had a near triploid composite karyotype with 60-69 chromosomes. The chromosome arms that involved frequent breakpoint and rearrangements were: 1p, 6p, 7p, and 12q. We found that 3 of the 3 patients who died of disease displayed an abnormal karyotype, whereas 2 of the 11 patients who are alive displayed an abnormal karyotype (P = 0.027). CONCLUSIONS: The study revealed that more than a third of the paranasal carcinomas carry an abnormal karyotype. No specific common aberrations were found in these tumors. To our knowledge this is the first attempt to investigate sinonasal squamous and undifferentiated carcinomas on a genetic level using G-banding technique. Additional studies are required in order to determine whether cytogenetic data may serve as an adjunct to conventional pathology for the diagnosis and prognosis assessment of these rare and highly aggressive tumors.

Adolescent↗

PubMed2004

High resolution DNA flow cytometry of boar sperm cells in identification of boars carrying cytogenetic aberrations.

The cytogenetic quality of boars used for breeding determines the litter outcome and thus has large economical consequences. Traditionally, quality controls based on the examination of simple karyograms are time consuming and sometimes give uncertain results. As an alternative, the use of high-resolution DNA flow cytometry on DAPI-stained sperm cell nuclei (CV </= 1.3%) was investigated as a screening method for the cytogenetic quality of boars. By analyzing a series of 25 animals judged normal by their fertility statistics and a series of seven animals with known reciprocal translocations, a model for identifying sperm cells from cytogenetically aberrant animals was proposed. This model was applied to a series of 50 uncharacterized animals. The model successfully identified a mosaic or chimaeric carrier of an aberrant X chromosome. However, implementation of this technique for screening purposes would necessitate essential improvements in standardization and measurement precision.

Animals↗

PubMed2006

Cytogenetic and molecular studies of an unusual case of multiple primary alveolar rhabdomyosarcomas: low-level chromosomal instability and reciprocal translocation t(6;11).

Cytogenetic and molecular studies have shown that approximately 80% of cases of alveolar rhabdomyosarcoma (ARMS) have consistent chromosomal translocation of either t(2;13) or t(1;13), resulting in either PAX3-FKHR or PAX7-FKHR gene fusions. However, 20% of the cases diagnosed histologically are negative for these fusion genes. The clinical and pathological properties of the so-called fusion gene negative tumors remain to be defined. We present an unusual case of a 7-year-old boy who developed three separate primary ARMS over a 5-year period, with the first tumor diagnosed at the age of 12 months. The tumors were negative for the characteristic translocations, t(2;13) or t(1;13), but showed evidence of low-level chromosomal instability and a reciprocal chromosomal translocation t(6;11)(q27;q13). PCR amplification of the p53 gene, exons 2-11, followed by DNA sequencing did not detect any germline p53 mutation. These clinical and cytogenetic features have not been reported previously in ARMS. The findings suggest that cytogenetic abnormalities of chromosome 6 may be associated with the development of early onset multiple ARMS in a subgroup of pediatric patients as seen in this case.

Cheek↗

PubMed2001

Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injection.

OBJECTIVE: To determine the incidence of aneuploidy among fetuses and infants conceived through intracytoplasmic sperm injection (ICSI) in our clinic using umbilical cord blood samples. DESIGN: Follow-up study of the cytogenetic outcome of ICSI pregnancies. SETTING: University-based IVF clinic. PATIENT(S): Forty-six couples who underwent ICSI and conceived. INTERVENTION(S): Umbilical cord blood was taken after delivery of the infant for analysis. Samples of chorionic villi and chorion were taken for studies on the spontaneous abortuses. Amniocentesis was performed for couples that chose prenatal diagnosis. MAIN OUTCOME MEASURE(S): The cytogenetic chromosomal status of the pregnancy outcome. RESULT(S): Fifty pregnancies and 55 live births were recorded, with nine spontaneous abortions. Of 43 separate umbilical cord blood samples analyzed, 1 abnormality (2%) was found, 45, XX,+21. Nine births went through prenatal diagnosis alone, with four accepting both forms of analysis-no abnormalities were found. Origin of abnormality was established in two spontaneous abortion cases (45, XO and 45, XY,-21), and the maternal chromosome was lost in both cases. CONCLUSION(S): Using umbilical cord blood obtained after birth, we obtained karyotype results from 78% of the ICSI population in our clinic. Combined with results from five additional cases that underwent prenatal diagnosis but not umbilical cord blood sampling, a chromosomal result was obtained in 87% of our ICSI population. The use of umbilical cord blood for cytogenetic analysis substantially improves the ability to determine rates of chromosomal abnormalities in newborns produced via ICSI clinics.

Adult↗