1/25. Translocation (15;17)(q22;q21) as a secondary chromosomal abnormality in a case of acute monoblastic leukemia with tetrasomy 8.We describe a case of acute monoblastic leukemia (AML M5a), originally presenting as granulocytic sarcoma of the testis, showing unusual cytogenetic abnormalities. tetrasomy 8 (primary) and t(15;17)(q22;q21) (secondary) were detected in bone marrow cells 6 months post-diagnosis, both by routine karyotype analysis and by fluorescence in situ hybridization (FISH) studies on metaphases and interphase nuclei. Retrospectively, the same abnormalities were identified in the primary testicular lesion using interphase FISH. However, reverse transcriptase polymerase chain reaction (RT-PCR) did not reveal the presence of a classic PML/RAR alpha fusion transcript. To the best of our knowledge, this is the first case to be reported in the literature of AML showing tetrasomy 8 in combination with secondary t(15;17).- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/25. Follicular dendritic cell sarcoma of the colon mimicking stromal tumour.AIMS: Follicular dendritic cell tumours are very rare neoplasms that often occur in lymph nodes. We report here a case in the colon, a hitherto unreported site, in a 37-year-old female. The differentiation from gastrointestinal stromal tumour is emphasized. methods and RESULTS: The tumour was tan, elastic and solid with surface ulceration. Microscopically, it was composed of oval to spindle tumour cells with syncytial cytoplasm arranged in fascicular and whorled patterns. There were many infiltrating lymphocytes. The histological appearance resembled gastrointestinal stromal tumour, thymoma or meningioma. Distinct from the stromal tumour, the lymph node was also involved by the tumour. Immunohistochemically, the tumour cells were positive for CD21, CD35 and CD68, but negative for cytokeratin, CD34, smooth muscle actin, desmin, S100 protein, epithelial membrane antigen, leukocyte common antigen, HMB-45 and c-kit. In-situ hybridization study was negative for Epstein-Barr virus rna sequences. Ultrastructurally, the tumour cells possessed cytoplasmic processes joined by desmosomes. CONCLUSIONS: This entity should be considered in the list of differential diagnoses for gastrointestinal stromal tumour. The lymph node metastasis and immunohistochemical features are of value for identification of this rare neoplasm.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/25. Development of follicular dendritic cell sarcoma in hyaline-vascular Castleman's disease of the nasopharynx: tracing its evolution by sequential biopsies.AIMS: Hyaline-vascular Castleman's disease (HVCD) and follicular dendritic cell (FDC) sarcoma occurring in the nasopharynx are both extremely rare. We report the first case of transformation of the former into the latter as documented by sequential biopsies. The steps involved in the transformation were described in detail and the possible role of p53 studied. methods AND RESULTS: The patient presented at the age of 23 years with nasopharyngeal HVCD. Hyaline- vascular Castleman's disease with FDC overgrowth was diagnosed in a recurrence 8 years later, and a frank FDC sarcoma developed at the same site 11 years after initial presentation. The patient remained disease-free 3 years after excision and adjuvant chemotherapy. The FDC sarcoma comprised swirling fascicles of spindly cells with indistinct cell borders. The tumour cells expressed the FDC markers CD21, CD35 and CNA.42 and in-situ hybridization for Epstein-Barr virus-encoded RNAs was negative. Over-expression of p53 protein was observed in the FDC sarcoma and an increased number of weakly p53-positive spindly cells could also be demonstrated in the HVCD specimen. This finding suggested a possible role of p53 in the evolution from HVCD to FDC sarcoma. Critical analysis of the literature shows that, among the 13 reported cases of FDC sarcoma associated with Castleman's disease, possible progression from the latter to the former is documented in only two cases. CONCLUSIONS: The sequential changes observed in the current case provide further evidence to strengthen the role of HVCD as a possible precursor of FDC sarcoma. There is a possible role of p53 in the transformation process but confirmation by future studies is needed.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/25. Follicular dendritic cell tumor presenting in the lung: a case report.An example of extranodal follicular dendritic cell sarcoma (FDCS) presenting in the lung, a heretofore unreported site, is described. Macroscopically, a 9.5-cm, tan-white, dominant mass and multiple smaller parenchymal and pleural nodules were identified. Microscopically, the tumor was composed of spindled cells with uniform cytologic features arranged in short, intersecting fascicles and intermixed small lymphocytes and plasma cells. One of 4 peribronchial and hilar lymph nodes evaluated microscopically was focally involved by the process. Immunohistochemically, the neoplastic spindled cells expressed complement receptors CD21 and CD35 and low-affinity nerve growth factor receptor but did not express keratin (AE1/AE3 and CAM5.2), CD45 (leukocyte common antigen), CD20 (L26), S-100 protein, muscle-specific actin, or gp100 protein (HMB45). Ultrastructurally, the tumor cells have complex interdigitating cell surface processes and desmosomes. Epstein-Barr virus (EBV) was not detected in the tumor cells by in situ hybridization for EBV-encoded rna or by polymerase chain reaction for viral dna. FDCS should be considered in the differential diagnosis of any spindled-cell tumor with interspersed chronic inflammatory cells occurring in the lung. An immunohistochemical panel, including anti-CD21 and -CD35, can assist in its diagnosis, especially with small bronchial biopsy specimens. 2001 by W.B. Saunders Company.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/25. Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation.We report a primary uterine sarcoma with classic histologic, immunohistochemical, and ultrastructural features of a malignant extrarenal rhabdoid tumor (MERT). It arose in a 71-year-old woman who presented with postmenopausal bleeding, ascites, and a right pelvic mass. Malignant cells with rhabdoid morphology were identified by cytologic examination of the peritoneal fluid. Exploratory laparotomy revealed a 10-cm right adnexal mass and disseminated peritoneal tumor. Pathologic study showed diffuse expansion of the endometrial stroma by rhabdoid-like cells with transmural infiltration of the myometrium and extensive involvement of uterine serosa and right ovary by tumor. Neoplastic cells were immunoreactive for vimentin, cytokeratin, and epithelial membrane antigen, and cytoplasmic whorls of intermediate filaments were observed by electron microscopy. fluorescence in situ hybridization (FISH) studies with chromosome 22-specific probes showed no loss of the INI1 gene, and no coding sequence mutation was identified.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/25. Metanephric adenosarcoma in a young adult: morphologic, immunophenotypic, ultrastructural, and fluorescence in situ hybridization analyses: a case report and review of the literature.Metanephric neoplasms are uncommon renal tumors that arise in both children and adults. They may be composed of small epithelial cells or benign stroma, or both, and are termed metanephric adenoma, metanephric stromal tumor, or metanephric adenofibroma, respectively. Thus far, these tumors have been known for their benign behavior. We present the case of a 21-year-old woman who developed a neoplasm composed of a renal epithelial component identical to metanephric adenoma combined with a malignant spindle cell sarcoma. The epithelial component was positive for pankeratin AE1/3, whereas the sarcomatous component was negative for epithelial markers and positive for vimentin, CD34, and CD117. No smooth muscle differentiation was apparent in the sarcoma by immunohistochemistry or ultrastructural analysis. By fluorescent in situ hybridization analysis of the sarcomatous component there was monosomy of the x chromosome, but no apparent variation from the normal diploid pattern for chromosomes 3, 7, 12, and 17. We conclude that the spectrum of metanephric neoplasia should be expanded to include malignant stromal variants, and we propose the term "metanephric adenosarcoma" for the present case.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
7/25. Extranodal follicular dendritic cell sarcoma of the head and neck region: three new cases, with a review of the literature.Extranodal follicular dendritic cell (FDC) sarcoma of the head and neck region is uncommon, with 16 well-documented cases previously reported (four in the tonsil, four in the pharynx, two in the palate, five in the soft tissue, and one in the thyroid). We here report an additional three cases of extranodal FDC sarcoma in the tonsil (two cases) and pharynx (one case). In these new cases, the neoplastic cells were arranged in diffuse, fascicular, and vaguely whorled growth patterns. A background lymphocytic infiltrate was sprinkled throughout the neoplasms, with focal prominent perivascular cuffing. Scattered multinucleated giant cells were present. Immunohistochemically, tumor cells were strongly and diffusely positive for follicular dendritic cell markers CD21 and CD35. Tumor cells were diffusely positive for fascin and negative for leukocyte common antigen, S-100 protein, cytokeratin, and Epstein-Barr virus (EBV) latent membrane protein-1 (EBV-LMP). EBV was also not detected in the tumor cells by in situ hybridization for EBV-encoded RNAs. FDC sarcomas are probably an underrecognized neoplasm, especially when they occur in extranodal sites in the head and neck region. Two of the three new cases we report were initially misdiagnosed, and five cases of extranodal FDC sarcoma in the head and neck region reported in the recent literature were initially misdiagnosed. Our aim is to complement the current understanding of this neoplasm and alert pathologists to this rare entity in this region to avoid misdiagnosis. Recognition of extranodal FDC sarcoma requires a high index of suspicion, but this tumor has numerous distinctive histological features that should bring the neoplasm into the differential diagnosis. Confirmatory immunohistochemical staining with follicular dendritic cell markers such as CD21 and/or CD35 is essential for the diagnosis. Correct characterization of this neoplasm is imperative given its potential for recurrence and metastasis.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/25. Spindle-cell ameloblastic carcinoma: A case report with immunohistochemical, ultrastructural, and comparative genomic hybridization analyses.Spindle-cell ameloblastic carcinoma is a classification proposed for a group of rare odontogenic carcinomas with sarcomatoid components and is distinguished from odontogenic carcinosarcoma. We report a case of spindle-cell ameloblastic carcinoma of the right mandible that occurred in a 67-year-old Japanese man. Growth of the tumor was destructive, there was extensive lung metastasis, and the outcome was unfavorable. Ultrastructural and immunohistochemical examination showed the spindle-cell component of the tumor to be epithelial in character. A gain of 5q with amplification of 5q13 was detected in the tumor by comparative genomic hybridization.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
9/25. Coamplification of 12p11 and 12q13 approximately q22 in multiple ring chromosomes in a spindle cell sarcoma resolved by novel multicolor fluorescence in situ hybridization analysis.An 80-year-old male presented with a lobulated mass in the lower abdominal wall. A diagnosis of an intermediate grade myofibroblastic spindle cell sarcoma was made. cytogenetic analysis demonstrated a complex karyotype with a der(6), a small marker and five, different in size, ring chromosomes. fluorescence in situ hybridization (FISH), multiplex FISH, and multicolor banding analysis was used to further delineate this complex karyotype. The der(6) was shown to be a der(18)t(6;18;9;12;18), the marker chromosome was identified as del(17), and the ring chromosomes as r(9) and r(12;18)x4. Amplification of 18 and coamplification of 12p and 12q was detected in the ring and marker chromosomes. No intercellular heterogeneity was observed although a few micronuclei containing chromosome 18 and anaphase bridges, containing chromosome 12 material, the result of bridge-fusion-bridge (BFB) cycles, were observed. Our findings combined with results from others indicate that amplification of chromosomes 12 and 18 as well as BFB phenomena characterize this type of sarcoma.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
10/25. Cytogenetic findings in a breast stromal sarcoma. Application of fluorescence in situ hybridization to characterize the breakpoint regions in an 11;19 translocation.cytogenetic analysis of a stromal breast sarcoma revealed a complex karyotype that included a reciprocal 11;19 translocation, along with multiple numerical changes, deletions, and other unbalanced structural rearrangements. Karyotypic abnormalities have not been reported previously in this rare neoplasm that arises from mesenchymal breast tissue, and the t(11;19) is of interest because various types of sarcoma are characterized by specific reciprocal translocations. Because of the pericentric nature of the breakpoints on chromosomes 11 and 19 in the t(11;19), classical cytogenetic banding could not reveal the centromeric origin of the translocation derivatives. Using nonisotopic in situ hybridization with chromosome 11 and 19 alpha-satellite probes, the centromere of each derivative chromosome was determined, and the rearrangement was interpreted as a balanced translocation, t(11;19)(q12 or q13.1;p12 or p13.1). This abnormality has not been described previously in any breast tumor.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
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