Cases reported "Urinary Bladder Neoplasms"

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1/15. Inflammatory pseudotumor of the urinary bladder with aberrant expression of cytokeratin. Report of a case with cytologic, immunocytochemical and cytogenetic findings.

    BACKGROUND: Cytologic descriptions of inflammatory pseudotumor of the urinary bladder are exceedingly rare. We describe here an additional case of this disease, including its cytologic features and aberrant expression of cytokeratin. CASE: A 35-year-old male presented with gross hematuria but no history of bladder surgery. urine cytology revealed a few atypical spindle cells suspicious for sarcoma. Histologically, the lesion consisted of spindle cells of various sizes and shapes, proliferating in irregularly running bundles, but no severe nuclear atypia or pathologic mitosis was found. Immunocytochemically, these cells were unexpectedly positive for cytokeratin as well as for vimentin and muscle actin. All metaphase cells examined revealed a normal male karyotype. CONCLUSION: Inflammatory pseudotumor must be distinguished in particular from leiomyosarcoma and spindle cell carcinoma. To avoid an erroneous diagnosis, recognition of this entity is important, together with careful histologic examination and awareness of the possible aberrant expression of cytokeratin.
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2/15. Cytogenetic monoclonality in multifocal uroepithelial carcinomas: evidence of intraluminal tumour seeding.

    Twenty-one multifocal urinary tract transitional cell carcinomas, mostly bladder tumours, from a total of six patients were processed for cytogenetic analysis after short-term culturing of the tumour cells. Karyotypically related, often identical, cytogenetically complex clones were found in all informative tumours from each case, including the recurrent tumours. Rearrangement of chromosome 9, leading to loss of material from the short and/or the long arm, was seen in all cases, indicating that this is an early, pathogenetically important event in transitional cell carcinogenesis. The presence of related clones with great karyotypic similarity in anatomically distinct tumours from the same bladder indicates that multifocal uroepithelial tumours have a monoclonal origin and arise via intraluminal seeding of viable cancer cells shed from the original tumour. Later lesions may develop also from cells shed from the so called second primary tumours. The relatively complex karyotypes seen in all lesions from most cases argue that the seeding of tumour cells is a late event that succeeds the acquisition by them of multiple secondary genetic abnormalities.
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3/15. Extramedullary myeloid cell tumor of the urinary bladder in a patient with myelodysplastic syndrome.

    We report a case of extramedullary myeloid cell tumor of the urinary bladder in an elderly male with a three year history of myelodysplastic syndrome (refractory anemia with excess blasts), noninvasive papillary transitional cell carcinoma of the urinary bladder, and in situ transitional cell carcinoma of the left ureter. light microscopy demonstrated a poorly differentiated neoplasm composed of medium to large cells with eosinophilic cytoplasm. The tumor cells showed immunohistochemical expression of myeloperoxidase, lysozyme, CD15, CD68 and CD43. bone marrow examination following cystectomy demonstrated refractory anemia with excess blasts (6-10%) and a normal karyotype. cytogenetics, approximately 1 year after cystectomy, demonstrated a deletion of the short arm of chromosome number 12. Four years after presentation, the patient succumbed to pulmonary aspergillosis.
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4/15. Fifty-three month persistence of ring chromosome in noninvasive bladder carcinoma.

    In a recurrent noninvasive papillary carcinoma of the bladder cytogenetic analysis by the direct technique was carried out on cystoscopic biopsies obtained at 53 month intervals. Persistent similar karyotypic abnormalities including aneuploidy, and ring and other marker chromosomes, the hallmarks of invasive cancer, were present in both specimens. In the 1973 specimen, dna banding was identified in 35 per cent of the metaphases and in 56 per cent of the karyotypes. The continuing abnormal chromosomal silhouette of this tumor supports the stemline cell concept for malignancies, even when applied to such relatively benign neoplasms as this noninvasive carcinoma of the bladder.
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5/15. Giant botryoid fibroepithelial polyp of bladder with myofibroblastic stroma and cystitis cystica et glandularis.

    A 3-year-old boy presented with a single episode of gross hematuria and no history of previous urinary tract disorder. Imaging studies revealed a large complex polypoid filling defect in the bladder lumen. Several attempts at transurethral biopsy and cytological examination of the urine revealed clumps of benign epithelial cells, but suspicion of a malignant neoplasm such as rhabdomyosarcoma remained high and the lesion was resected. The specimen measured 15 cm, had a narrow zone of attachment to the bladder mucosa, and was grossly botryoid. Changes typical of cystitis cystica et glandularis were present at and near all surfaces. Myxoid stroma contained scattered benign fibroblasts, myofibroblasts, and smooth muscle cells. Inexplicably, one of two karyotyped stromal cells demonstrated a translocation usually associated with rhabdomyosarcoma. This child is well without evidence of bladder abnormality 1.5 years after surgery.
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6/15. ALK-ATIC fusion in urinary bladder inflammatory myofibroblastic tumor.

    In this report, we describe an inflammatory myofibroblastic tumor (IMT) of the urinary bladder in a 46-year-old man. Tumor cells presented striking cytoplasmatic ALK immunopositivity. Cytogenetic and FISH analysis, by use of a multicolor chromosome 2 banding probe, revealed a 46,XY,der(2)(2pter-->2p23:2q35-->2q37:2p11-->2q35:2p23-->2p11:2q37-->2qter) karyotype. Subsequent FISH and RT-PCR analysis confirmed the ALK-ATIC chimeric fusion in tumor cells. This is the first evidence of a variant rearrangement involving the ATIC gene in IMT and the first cytogenetic description of an IMT originating from the urinary bladder.
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7/15. Acquired cyclic haematopoiesis associated with a radiation-induced chromosomal abnormality with clonal, morphologically normal circulating leucocytes.

    A 62-year-old male with a history of vesical carcinoma treated with pelvic radiotherapy and cystectomy developed intermittent fevers associated with oral ulcers and neutropenia. Serial blood counts revealed cyclic haematopoiesis, with periodic neutropenia, lymphocytopenia, monocytopenia and thrombocytopenia. bone marrow examination revealed intermittent hypoplasia without myelodysplasia or leukaemia. Marrow karyotype revealed a clonal chromosomal abnormality which included trisomy 8 and absence of the y chromosome. We also provide evidence of spontaneous differentiation of the clonal marrow cells to mature leucocytes.
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8/15. Karyotypic characterization of a new human embryonal rhabdomyosarcoma cell line.

    Chromosomal analysis of an advanced recurrent rhabdomyosarcoma of the embryonal type was performed on cell cultures in the 9th passage of in vitro cultivation. This tumor showed a modal karyotype of 54 and was characterized by multiple numerical and structural chromosome abnormalities, all present in high frequencies. Abnormalities observed in 100% of the cells included a der(1) chromosome with a short unidentified insertion between q31 and q32; a der(1) chromosome, arising from insertion at the same breakpoint of a longer segment with a duplicated 1q31 band and translocation of 13q23   qter to 1p36, a deleted tetrasomic 13q23   qter, and a der(4) chromosome showing 1p36   pter translocated to 4p13. Other common abnormalities included trisomy of chromosomes 8, 13, and 9p, deletions of chromosomes 6, 10, 11, and 12, and presence of marker chromosomes. Characterization of the established line at the 38th passage evidenced the persistence of both the modal karyotype and all the numerical and structural abnormalities previously found. The results of this study provide further evidence of the major involvement of alterations in chromosome 1 in the progression of rhabdomyosarcoma.
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9/15. 5q deletion. The sole chromosome change in a carcinoma of the bladder.

    Direct chromosome preparations of a transitional cell carcinoma of the bladder that had invaded the mucosa but not more deeply showed a 46,XY,5q- karyotype in nearly all metaphases. This is the first description of a 5q deletion, which may have been interstitial, del(5)(q13q22), as the only change in a bladder carcinoma.
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10/15. A squamous cell bladder carcinoma with karyotypic abnormalities reminiscent of transitional cell carcinoma.

    A squamous cell carcinoma was investigated cytogenetically by means of chromosome banding. The karyotype was complex with many structural and numerical changes, including -9 and del(11p), aberrations that also have been noted in transitional cell carcinoma. Thus, cytogenetic studies may be an important complement to the histological classification of bladder tumors, and may even contribute to our understanding of the etiology and pathogenesis of the 2 main types of bladder cancer.
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