1/38. Wilms' tumor in the adult--report of a case and review of the literature.Wilms' tumor is rare in adults. Its histology, grading and staging are identical to those in children. Investigators agree on a combined modality approach in the treatment of adult Wilms' tumor (AWT), but differ on how aggressive it should be. Some advocate adopting the current pediatric protocols which take into account tumor stage and grade. Others recommend using advanced disease regimens for all stages and grades. We report on an 18 year-old male with stage IV favorable histology Wilms' tumor. The patient underwent radical nephrectomy and received postoperative radiotherapy with intensive four-drug chemotherapy. He had one relapse after 12 months which was successfully treated with chemotherapy and radiotherapy. He remains in remission without relapses 36 months after the initial diagnosis. The genetics of Wilms' tumor has been well studied in children but is practically unknown in adults; karyotype and molecular genetic studies in this case were normal.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/38. Unbalanced translocation of chromosome 3p in Wilms' tumor.Genetic studies in Wilms' tumor have most commonly shown a deletion involving band 13 on the p arm of chromosome 11 in association with aniridia. Structural rearrangements of chromosome 3p have been found in carcinoma of renal cell and lung origin but have not been previously reported in Wilms' tumors. We present two phenotypically normal, unrelated patients with Wilms' tumors, one of which was bilateral, in which cytogenetic analysis of the tumors showed an unbalanced translocation of the p arm of chromosome 3. Two biopsies were done in the patient with bilateral Wilms' tumor. The first biopsy specimen showed a translocation between chromosome 3 and 13 with partial trisomy of 3p and loss of material from 13q. The second biopsy three and a half months later again showed trisomy of chromosome 3p. The unilateral Wilms' tumor showed trisomy of 3p with partial loss of 7p. Neither patient showed a constitutional chromosomal abnormality and neither tumor showed any cytogenetic abnormality involving chromosome 11p. Quantitative dna analysis was performed in the tumors of both patients. The bilateral Wilms' tumor was nearly diploid with a dna index of 1.284 (mean ploidy, 2.45; SD, 0.854) while the unilateral Wilms' tumor was aneuploid with a dna index of 1.531 (mean ploidy, 3.35; SD, 0.976). dna analysis results are discussed in relationship to the chromosome abnormality seen on the karyotype analysis. These cytogenetic findings suggest that genetic oncogenesis in Wilms' tumor is heterogenous.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/38. aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect.A two year old female child with bilateral wilms tumor (WT) along with multiple congenital anomalies like bilateral aniridia with congenital cataracts and nystagmus, microcephaly, mental retardation and ventricular septal defect has been described. The karyotype analysis revealed 46 xx, del 11p 13-14.1. association of ventricular septal defect with the classical features of 'aniridia-Wilms' tumor association' is an unusual feature in this case.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/38. Cytogenetically unrelated clones in different histologic components of a wilms tumor.wilms tumor (WT) is a triphasic malignant neoplasm comprised of variable proportions of epithelial, blastemal, and mesenchymal (stromal) elements. cytogenetic analysis of these tumors has revealed a number of recurring abnormalities, including hyperdiploidy and structural abnormalities of chromosomes 1, 7, 11, and 16. We describe a WT in which apparently unrelated cytogenetic clones were detected at diagnosis, when the predominant histologic component was blastema, and after therapy, when the tumor was composed primarily of stroma. At diagnosis, a pseudodiploid karyotype was present, characterized by an X;14 insertion with concurrent deletion of 14q. In contrast, the post-therapy specimen had a hyperdiploid karyotype with a constellation of gains typical for WT. The presence of clonal abnormalities in both the blastemal and mesenchymal components of a WT supports the hypothesis that the stromal component is neoplastic, rather than reactive. The clonal abnormalities seen in different histologic components of the same WT are typically related or identical. The finding in this case of apparently unrelated clones is unusual. Possible etiologies for this biclonality, and clinical implications, are discussed.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
5/38. Intrachromosomal triplication for the distal part of chromosome 15q.We report the case of a boy whose karyotype at birth showed additional material on one chromosome 15. He underwent treatment for unilateral nephroblastoma at 6 years old. At 23 years old, he presented with body asymmetry, facial dysmorphism, arachnodactyly, severe scoliosis, and mental retardation. Molecular cytogenetic analyses of peripheral lymphocytes demonstrated a complex mosaic with three clones. A major cell lineage (68%) showed a chromosome 15 with additional material fused to its telomere long arm that was constituted by an inverted duplicated 15q24.3-qter segment. Therefore, the resulting add(15)(q) harbored an intrachromosomal triplication with the middle segment being inverted in orientation. A minor cell lineage (7%) showed an abnormal chromosome 3 resulting from a telomeric fusion between its short arm and an inverted duplicated 15q24.3-qter segment. The third cell lineage (25%) showed a normal 46,XY constitution. Finally, this resulted in tetrasomy for the distal 15q24.3-qter region in 75% of the patient's lymphocytes. To our knowledge, distal 15q tetrasomy is rare and only eight cases have been reported in the literature, all due to a supernumerary analphoid marker consisting of an inverted duplication. We report here the first observation of distal 15q tetrasomy associated with a 46 chromosomes constitution. We compare the phenotype of our patient to previous cases of distal tetrasomy 15q and discuss the mechanisms underlying this chromosomal rearrangement.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/38. prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and wilms tumor of the kidneys.We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/38. Passive seeding in metanephric adenoma: a review of pseudometastatic lesions in perinephric lymph nodes.Lymph node involvement derived from a discrete neoplastic process fundamentally implies tumor malignancy. However, rarely, inconsequential passive transport of benign neoplastic cells to the lymph node can occur and may cause confusion as to the nature of the neoplasm (ie, malignant vs benign). We describe a 10-cm right renal metanephric adenoma incidentally discovered in a 30-year-old woman during cesarean section for a triplet pregnancy. Subsequent nephrectomy following an equivocal needle biopsy diagnosis showed histologic features classic for metanephric adenoma, including the lack of cytologic atypia and mitoses. necrosis present in this lesion appeared to be secondary to tumor physical disruption. The tumor cells were positive for wilms tumor 1 (WT1) antigen, pankeratin, and CD57, focally positive for epithelial membrane antigen, and negative for cytokeratin 7, cytokeratin 34betaE12, and CD56. Electron microscopy confirmed the tumor's epithelial nature, and cytogenetics revealed a diploid 46XX karyotype. The tumor proliferation index with Ki-67 was only 3% to 5% and the proliferating cell nuclear antigen index was 0%. A single, concurrently resected hilar lymph node contained scattered subcapsular, sinusoidal, and focally intralymphovascular psammoma bodies along with occasional adherent epithelial cells. These cells were highlighted by pankeratin but were nonreactive to WT1 antigen, similar to the nonviable cells in the primary tumor. Clinical surveillance and follow-up showed no disease recurrence 4 years after nephrectomy. We postulate that the lymph node inclusions found in this case represent passive transport of neoplastic cells to the lymph node following manipulation of the renal mass. We conclude that this phenomenon is understudied and underrecognized and can easily be mistaken for metastasis.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/38. Metanephric adenoma during pregnancy: clinical presentation, histology, and cytogenetics.Metanephric adenoma is a rare benign tumor of the kidney. It is considered to be derived from embryonic renal tissue and to be the benign counterpart of the wilms tumor. Although its imaging findings and immunohistochemistry are nonspecific, it has a typical microscopic morphology. We describe a case of a 24-year-old primigravida who presented in the 28th week of pregnancy with lower back pain, fever, malaise, and anemia. At renal ultrasonography and magnetic resonance imaging, a hemorrhagic tumor of 10 cm in diameter originating from the right kidney was seen. Based on the imaging findings, the diagnosis of a cystic renal cell carcinoma with recent hemorrhage was suggested, and a radical nephrectomy was performed. Pathologic examination concluded to a metanephric adenoma. The further pregnancy went on well. The karyotype of the tumor was 46,XX,t(1;22)(q22;q13),t(15;16)(q21;p13). To our knowledge, this is the first report on these chromosomal abnormalities in metanephric adenoma.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/38. The association of Wilms' tumor with nephrologic disease.Three cases of nephrologic disease characterized clinically by nephrotic syndrome and histologically with mesangial sclerosis associated with Wilms' tumor are documented. Two children were born with ambiguous genitalia and an XY chromosome constitution. A third patient had a 46,XY karyotype and developed a Wilms' tumor but had a normal female phonotype. The evaluation and current management of this syndrome are discussed.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/38. A cell line from Wilms' tumour with deletion in short arm of chromosome II.A cell line (T3/73) from a Wilms' tumour has been established from a 9 month-old boy with aniridia. The tumour was removed in 1973. On histological examination a diagnosis of Wilms' tumour was made which showed undifferentiated areas, marked tubule formation and abundant striped muscle fibres. The tumour cells, which are fusiform, grew rapidly in culture without the addition of growth factors, and have undergone over 100 passages. Approximately 95% and 5% were positive for desmin and cytokeratin, respectively. The cell doubling time was 28 hr. Cytogenetic studies revealed a karyotype of 46,XY,del(11) (p12::p14). Although the cells stained very intensely with a monoclonal antibody that detects oncogene ras p 21 antigen, Southern blot analysis using c-Ha-ras as a probe failed to reveal an obvious deletion or amplification of either Ha-ras allele.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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