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PubMedDate not supplied

Spindle cell sarcoma of the kidney with ganglionic elements (malignant ectomesenchymoma) associated with chromosomal abnormalities and a review of the literature.

PURPOSE: Malignant ectomesenchymomas are tumors that exhibit both mesenchymal and neuroectodermal elements (1). We report a case thought to represent a malignant ectomesenchymoma arising in the kidney with cytogenetic abnormalities that may provide insight into the biologic basis for this unusual tumor. METHODS: We discuss the clinical features, histopathologic findings, cytogenetics, treatment, and outcome of a child with a malignant ectomesenchymoma arising in the kidney. RESULTS: An asymptomatic 16-month-old boy had a large abdominal mass. The resected tumor contained sheets of spindled cells that expressed mesenchymal markers and cartilaginous differentiation, interspersed with clusters of ganglion cells that expressed neural markers. No blastemal or epithelial elements were demonstrated. Cytogenetic analysis of the tumor revealed a hyperdiploid count with multiple numerical and structural abnormalities, including a translocation between chromosomes 12 and 15. In addition to the surgical resection, the patient was successfully treated with adjuvant chemotherapy and local radiation therapy. CONCLUSION: This is the first report of which we are aware of an ectomesenchymoma arising within the kidney. A subset of malignant ectomesenchymomas may be related to the Ewing's family of tumors (EFTs) (2), but this case did not exhibit cytogenetic features consistent with EFT. Thus, the malignant ectomesenchymoma phenotype probably represents a heterogeneous group of tumors with different genotypes and origins. Cytogenetic analysis may be instrumental in determining the appropriate therapeutic approach when faced with such a neoplasm. The outcomes of 12 other children with ectomesenchymoma are reviewed.

Child, Preschool↗
PubMed1992

Myelodysplastic syndrome in a patient with a unique constitutional chromosome abnormality t(2;11) (q31;p13).

We present a case of myelodysplastic syndrome (MDS), which developed into an overt leukemic phase in a 15-year-old female with a rare constitutional abnormality [46,XX,t(2;11) (q31;p13)]. The patient entered complete remission after 3 months of chemotherapy. On chromosome analysis during remission, the t(2;11) (q31;p13) abnormality was detected in all metaphases of both the bone marrow cells and PHA-stimulated peripheral blood lymphocytes. Her father also had the same karyotype. This case seems to be of value as a reference for the study of the significance of constitutional chromosome abnormalities in MDS.

Adolescent↗
PubMed1979

Chromosomal abnormalities in maintenance hemodialysis patients.

Forty bone marrow aspirates from maintenance hemodialysis patients were prepared for chromosomal analyses. Among the 1,187 metaphases studied, only 58% were diploidies. Other abnormalities included: pseudodiploidies (5.8%), acentric fragments (3.6%), translocated chromosomes (1.9%) and one dicentric chromosome. The abnormalities found may be due to abnormal DNA synthesis in chronic renal failure or uremia, or infusion of formaldehyde which can denature DNA. This chemical was used to sterilize dialysis equipment. Incomplete rinsing can introduce this substance into the circulation.

Adolescent↗
PubMed2000

Clonal chromosome abnormalities in enchondromas and chondrosarcomas.

We report cytogenetic findings in short-term cell cultures from five enchondromas and four chondrosarcomas. Clonal chromosome aberrations were found in one case of enchondroma, and in all cases of chondrosarcoma. The only enchondroma with nonrandom abnormalities had a reciprocal t(8;17)(q23;p13), and monosomies 9, 19, and/or 22. In contrast to the few karyotypic findings in one of five enchondromas, the four chondrosarcomas were commonly characterized by cytogenetic heterogeneity, with a tendency for increasing karyotypic complexity in higher grade tumors. Two cases, one grade III and one metastasizing grade II chondrosarcoma, revealed hypodiploid stem- and sidelines with loss of chromosomes 6, 10, 13, 14, and 22, as common chromosomal abnormalities, suggesting a distinct karyotypic pattern in a subset of biologically aggressive chondrosarcomas.

Adolescent↗
PubMed1983

Clonal chromosome abnormalities in patients with Waldenström's and CLL-associated macroglobulinemia: significance of trisomy 12.

We performed cytogenetic analyses by Q- and G-banding techniques of unstimulated or B-mitogen-stimulated spleen, bone marrow, and peripheral blood cells from six patients with malignant macroglobulinemia [two with Waldenström's macroglobulinemia (WM) and four with chronic lymphocytic leukemia associated macroglobulinemia (CLL-M)]. Normal karyotypes were obtained in two of the treated patients (one with WM in remission and the other with CLL-M in relapse). An extra chromosome 12 (trisomy 12) was observed in all four untreated patients. In patient no. 2 (K.R.) and no. 3 (F.G.) with CLL-M, an abnormal karyotype, with trisomy 12 as the only abnormality, was identified. In patient no. 1 (C.C.) with WM, there were two clonal chromosome changes, identified: 47, XX, -9, +12, plus marker chromosome and 48, XX, -9, +12, plus both marker and minute chromosomes. In patient no. 4 (R.M.) with CLL-M, a minute chromosome with or without loss of a G-group chromosome was seen in some metaphases without trisomy 12, in addition to metaphases with trisomy 12 alone. Each of the four untreated patients with WM or CLL-M had clonal chromosome abnormalities, suggesting that chromosome changes may be more frequently associated with WM or CLL-M than with typical CLL without macroglobulinemia. These observations also suggest that trisomy 12 may be the primary karyotypic change in malignant macroglobulinemia, whereas the appearance of the minute or marker chromosome as well as the loss of G-group chromosomes or chromosome no. 9 may be secondary karyotypic changes resulting from clonal evolution in these malignancies.

Aged↗
PubMed1997

Chromosomal abnormalities in low grade chondrosarcoma and a review of the literature.

In this study, cytogenetic analysis of two low-grade chondrosarcomas revealed relatively simple chromosomal complements with structural rearrangements involving chromosomes 1, 6, and 12 [46,XY,add(16)(q24)[3]/46,XY,t(1;20)(q21;q11),t(6;17)(q23;q23)[3]/46,XY, t(4;14)(q12;q24),t(5;6)(q12;p21) [2] and 45,XY,t(12;16)(q13;q24),-14[17]/44,idem,add(4)(p16),-17,[2] respectively]. Previously published reports of chondrosarcoma have revealed structural abnormalities of chromosomes 1, 6, 9, 12, and 15 as common. Also, a correlation between the simplicity or complexity of the abnormalities seen and histologic grade has been suggested. The findings of the current study support these earlier observations.

Chondrosarcoma↗
PubMed1992

Significance of both numerical and structural chromosomal abnormalities in clear cell sarcoma.

We analyzed cytogenetically two cases of clear cell sarcoma. The t(12;22)(q13;q13) hypothesized to be characteristic of clear cell sarcoma was detected in one of the two cases. Although this translocation was not observed in the other case; trisomy of chromosome 22 was, as were other numerical abnormalities. This latter observation has also been described in other reported studies of clear cell sarcoma. These findings confirm the nonrandomness of t(12;22)(q13;q13) in clear cell sarcoma, but also suggest that in its absence other abnormalities of chromosome 22 are significant. Trisomy 8, noted in both cases we report, as well as in previous studies, also appears to play an important role in clear cell sarcoma.

Adult↗
PubMed2006

Plasma cell leukemia presenting with diplopia due to unilateral abducens paralysis and complex chromosomal abnormalities.

Involvement of cranial nerves is rare in plasma cell leukemia (PCL). Here, we report a case of PCL presenting with unilateral abducens paralysis. Cranial magnetic resonance imaging (MRI) disclosed a mass in the sphenoid sinus. Although the patient showed an initial response to chemotherapy, he died of disease progression 5 months later. Cytogenetic analysis showed translocation of chromosomes 11 and 14, t(11;14) (q13;q32), with additional complex abnormalities. This case implies an association between clinical manifestations and chromosomal abnormalities.

Abducens Nerve Diseases↗
PubMed1997

Treatment-related chromosome abnormalities in human embryos.

Mosaicism was studied in good quality embryos from four different centres in order to assess the effects of follicular induction and exposure to laboratory conditions on chromosomal status. The donated embryos were fully biopsied and analysed by fluorescence in-situ hybridization using probes for chromosomes X, Y, 13, 18 and 21, simultaneously. The number of abnormal cells present indicated the division at which mosaicism first occurred (4/4 cells at first division, 2/4 cells at second, 2/8 at third). The rate of mosaicism in embryos from different centres varied greatly (P < 0.001). Most of the mosaic embryos were obtained before 1991. In one clinic increased mosaicism was found in embryos obtained before 1991 when compared to embryos obtained thereafter. The results suggest that certain culture conditions and/or hormonal stimulation protocols may induce chromosomal abnormalities and partly explain differences in pregnancy rates between in-vitro fertilization centres.

Biopsy↗
PubMed1986

Deficiency of myeloperoxidase and abnormal chromosome 1 occurs in variant (HL60) promyelocytes.

Maturation of normal polymorphonuclear neutrophils is characterized by successive periods of granule synthesis, a process which frequently is abnormal in leukemia. Recently, the human leukemic cell line HL60, displaying a promyelocytic phenotype, has been used to study granulocyte maturation. We describe a variant line of HL60, called HL60-A7, resulting from growth in actinomycin D, which contains atypical large azurophilic granules deficient in myeloperoxidase. The products of in-vitro translation of A7 RNA contained less than 5% of the immunoreactive MPO found in the parent line. Electrophoresis of plasma membrane polypeptides radioiodinated by the lactoperoxidase technique revealed several differences. Karyotypic analysis identified a consistent chromosome 1q+ abnormality which was not found in any of the parental cells examined. This constellation of differences between HL60 and HL60-A7, i.e. MPO deficiency, abnormal granule morphology, cell surface changes, and further cytogenetic abnormalities, may point to a common site sensitive to altered regulation in some leukemic promyelocytes.

Cells, Cultured↗
PubMed1965

CHROMOSOME ABNORMALITIES IN NEUROBLASTOMA.

The case is briefly reported of a 7-month-old boy with a disseminated neuroblastoma, whose marrow showed neuroblastoma rosettes and on direct examination on two occasions revealed a high proportion of cells with 48 chromosomes forming an abnormal cell line.

Bone Marrow↗
PubMed1999

Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.

Spectral karyotyping (SKY) is a new molecular cytogenetic technique that allows simultaneous visualization of each chromosome in a different color. We have used SKY for comprehensive analysis of 20 myelodysplastic syndromes (MDSs) (13 primary MDSs, 3 therapy-related MDSs, and 4 acute leukemias developed from MDS, including 1 cell line established from a secondary leukemia), previously analyzed by G-banding. To locate the chromosomal breakpoints, DAPI-counterstained band images from all metaphases were transformed to G-band-like patterns. By using SKY, it was possible to identify the origin and organization of all clonal marker chromosomes (mar), as well as the origin of all abnormalities defined as additional material of unknown origin (add) or homogeneously staining regions (hsr) by G-banding. In total, SKY identified the chromosomal basis of 38 mar, add, and hsr, corrected 8 abnormalities misidentified by G-banding, and revealed 6 cryptic translocations in 5 cases. Total or partial chromosomal loss (mainly of -5/5q- and -7/7q-) is the most frequent cytogenetic abnormality in MDS. In 3 of 11 cases with -5/5q- and in 4 of 8 with -7/7q-, lost material was detected by SKY in unbalanced translocations. A total of 60 chromosomal losses were identified by G-banding in 16 cases with multiple chromosome abnormalities involving at least 3 chromosomes. For 26 of these losses (43%), SKY analysis suggested that the losses were not complete, but had been translocated to a variety of partner chromosomes. Moreover, SKY analysis revealed that a ring chromosome in a case of acute leukemia developed from MDS contained three to six segments that originated from chromosome 21 material. Fluorescence in situ hybridization showed the amplification of the AML1 gene on regions derived from chromosome 21, providing the first evidence of amplification involving this gene in MDS. Genes Chromosomes Cancer 26:336-345, 1999.

Adult↗
PubMed1990

[Clinical approach to prenatal diagnosis of chromosome abnormalities].

In the case of prenatal diagnosis of chromosomal aberrations, the obstetrician has to determine the high risk situation for which a fetal karyotype examination has to be done. Before pregnancy, the karyotyping indications are defined by genetic consultation in order to analyze classical data such as the parents' age, repeated spontaneous abortions, previous child with a genetic defect, fetal malformations or intrauterine death... During pregnancy, clinical warning signs, in particular, anomalies in the amniotic fluid and fetal growth retardation should be recognized, but most abnormal karyotypes are detected by ultrasonographic examination (average: 11.3%). Down's syndrome diagnosis is presently evaluated by some more specific ultrasonographic signs such as fetal nape or femur length measurements and by new biological parameters such as hCG assay. The sampling method for karyotyping, early or late amniocentesis, first trimester but also second and third trimester placental biopsy or cordocentesis will be chosen in accordance with the importance of the chromosomal aberration expected, gestational age, procedure complication risks and the obstetrician's experience. The following examinations could be proposed: in high risk cases determined before pregnancy, a chorionic villus sampling should be done between the 9th and 11th weeks of gestation; in low risk cases such as advanced maternal age, a first trimester chorionic villus sampling or a second trimester amniocentesis could be chosen; in the case of Down's syndrome, warning signs, for example ultrasonographic or biological parameters, a second trimester placental biopsy to relieve the parents' anxiety; in high risk cases such as ultrasonographic malformations, late placental biopsy or cordocentesis.

Amniocentesis↗