1/23. Benign metastasizing leiomyoma: a cytogenetically balanced but clonal disease.Benign metastasizing leiomyoma (BML) is a rare condition, characterized by the occurrence of multiple smooth-muscle nodules, most often located in the lung after previous hysterectomy because of histologically benign appearing leiomyoma. Although the condition resembles a metastatic process, case studies provided evidence that it may be the result of an intravenous leiomyomatosis or an independent and multifocal smooth-muscle proliferation. comparative genomic hybridization and X-chromosome inactivation analysis were used in a case of BML to determine whether pulmonary and uterine tumors are related one to another. A balanced karyotype, previously reported in leiomyomas and an identical X-chromosome inactivation pattern found in all tumorlets, is most consistent with a monoclonal origin of both uterine and pulmonary tumors and the interpretation that pulmonary lesions are metastatic.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/23. Uterine leiomyomas with eosinophils: a clinicopathologic study of 3 cases.Although leiomyomas (LMs) of the uterus are common, hematopoietic components within these tumors are not. Lymphoid and other hematopoietic elements have been previously recognized, but eosinophilic infiltrates in LMs have received little attention in the literature. The clinical and pathologic features of 3 cases of uterine LM with eosinophilic infiltration were studied. The patients ranged in age from 35 to 62 years and presented with abdominal and/or pelvic pain and abnormal uterine bleeding. None had peripheral blood eosinophilia or clinical evidence of allergy or parasitic infection. One patient had a benign LM, and the other 2 patients had smooth muscle tumors of uncertain malignant potential. The tumors contained variable numbers of eosinophils and Giemsa stains showed variable numbers of mast cells in addition to the eosinophils. We also performed immunohistochemical and in situ hybridization studies to assess for interleukin-5 (IL-5) and eotaxin in these LMs. There was no consistent association between the presence of eosinophils and either IL-5 or eotaxin in smooth muscle cells, suggesting that mechanisms other than IL-5 or eotaxin production may account for the eosinophilia. Because eosinophils are believed to be involved in wound healing, tissue remodeling, and fibrosis, their presence within LMs may reflect a response to tissue injury produced by the neoplasm rather than intrinsic recruitment by chemotactic factors produced by the smooth muscle cells. Their presence, however, does not appear to have any clinical significance.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/23. 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) |
4/23. Gastric choriocarcinoma shows characteristics of adenocarcinoma and gestational choriocarcinoma: a comparative genomic hybridization and fluorescence in situ hybridization study.The authors report two cases of the rare primary gastric choriocarcinoma. These tumors showed an overwhelming predominance of cytotrophoblast- and syncytiotrophoblast-like tumor cells that were positive for beta-human chorionic gonadotrophin, with small foci of glandular differentiation. Beta-human chorionic gonadotrophin was also detected serologically in one patient. comparative genomic hybridization study was performed on one specimen. Copy number gains of chromosomes 12, 17, 20, 22, and X, together with losses on 18q, were the major findings. Except for the gain of chromosome 12, which is known to be uncommon in primary gastric adenocarcinoma but frequently associated with choriocarcinoma, the remaining genomic imbalances were among the most common comparative genomic hybridization findings reported in primary gastric adenocarcinoma. fluorescence in situ hybridization on paraffin sections of both specimens confirmed the presence of polysomy 17 and trisomy 12. These results suggest that primary gastric choriocarcinoma genetically possesses characteristics of both adenocarcinoma and gestational choriocarcinoma. The authors believe this is the first interphase cytogenetics study on this rare tumor, and that the results support the theory that gastric choriocarcinoma arises from alternate differentiation pathways of adenocarcinoma.- - - - - - - - - - ranking = 11keywords = hybridization (Clic here for more details about this article) |
5/23. Intravenous leiomyomatosis: molecular and cytogenetic analysis of a case.Apart from its hormone responsiveness, little about the pathobiology of intravenous leiomyomatosis (IVL), a rare smooth muscle proliferation, is known. We investigated the cytogenetics and molecular biology of IVL in a 40-year-old female who presented with an abrupt onset of dyspnea. In addition to the intracaval tumor mass composed of histologically benign smooth muscle, four distinct retroperitoneal "fibroids" were cytogenetically investigated. An identical abnormal karyotype, 45,XX,der(14)t(12; 14)(q15;q24),-22, was observed in all five specimens. fluorescence in situ hybridization revealed three copies of HMGIC (alias HMGA2), two on the normal chromosomes 12 at 12q15, as well as another on the der(14) in the breakpoint region, suggesting that the 12q breakpoint occurred 5' (centromeric) to HMGIC (HMGA2), as has been frequently observed in uterine leiomyoma. Such similarity in chromosomal rearrangements suggests that there may be a pathogenetic relationship between IVL and uterine leiomyomata with t(12;14). Skewed X inactivation was observed in each tumor sample, but not in the myometrium. In each tumor, the lower molecular weight allele of HUMARA was nonrandomly inactivated. This pattern of X inactivation is most consistent with origin from a single transformation event, and in this regard, IVL more closely resembles disseminated peritoneal leiomyomatosis than typical uterine leiomyomata.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/23. Malignant placental site trophoblastic tumor: a cytogenetic study using comparative genomic hybridization and chromosome in situ hybridization.BACKGROUND: Placental site trophoblastic tumor (PSTT) is a rare form of gestational trophoblastic neoplasm composed predominantly of intermediate trophoblast. Most showed benign behavior whereas 10-15% of PSTTs were clinically malignant with later recurrence and metastasis. Currently, there are no reliable means to predict clinical outcome, and cytogenetic information is scanty. methods: The clinicopathologic features of two cases of malignant PSTT were analyzed. cytogenetic analysis was performed by comparative genomic hybridization (CGH) and chromosome in situ hybridization (CISH) using frozen tissue and paraffin embedded sections, respectively. RESULTS: Both patients were 32 years old at time of diagnosis. One patient with PSTT presented with menorrhagia, and the other presented with symptoms of missed abortion. Elevated serum human chorionic gonadotropin (HCG) was detected in both patients. Histologic examination showed the typical features of PSTT with high mitotic count (> 5/10 high-power fields). Ovarian and lung metastasis occurred in both patients. Immunohistochemical staining revealed an equal distribution of HCG and human placental lactogen. Cytogenetic studies by CISH showed that karyotypes of these two malignant PSTTs were diploid. Analysis of the tumor tissue by CGH did not show any changes in dna copy numbers. CONCLUSIONS: The authors' study indicated that the two metastasizing PSTTs had balanced diploid karyotype. The malignant behavior of PSTTs may be not related to the dna copy number changes. Such cytogenetic study may be useful in distinguishing metastatic PSTT from choriocarcinoma.- - - - - - - - - - ranking = 10keywords = hybridization (Clic here for more details about this article) |
7/23. Acute myeloid leukemia (FAB-M2) with a masked type of t(8;21) translocation revealed by spectral karyotyping.We report a case of acute myeloid leukemia (AML), M2 subtype according to the French-American-British (FAB) classification, with extramedullary myeloblastoma of the uterus and a masked type of variant translocation of t(8;21)(q22;q22). A 45-year-old Japanese woman presented with metrorrhagia, and AML (M2) with uterine invasion was diagnosed. The patient received an allogeneic peripheral blood stem cell transplantation after remission, and her pelvis was irradiated locally. Cytogenetic study at first showed t(8;17)(q22;p13) by G-banding. spectral karyotyping (SKY) analysis modified this interpretation to a 3-way translocation involving chromosomes 8,17, and 21 and identified a masked type of variant t(8;21)(q22;q22) translocation. Results of fluorescence in situ hybridization using the AML1/ETO probe, and of detection of the AML1/ETO fusion transcript by reverse transcriptase-polymerase chain reaction were consistent with the karyotyping result. SKY analysis is useful to compensate for the limitations of cytogenetic studies.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/23. Low grade uterine stromal sarcoma and squamous cell carcinoma associated with an IUD: a report of 2 cases.BACKGROUND: Although intrauterine device (IUD) usage has not been linked to uterine cancer and has even been considered protective against neoplasia, sporadic cases of IUD-associated uterine malignancies have been reported. CASES: One cystic low grade stromal sarcoma of the uterus occurred in a 7-year IUD user, and 1 invasive endometrial squamous cell carcinoma following 25 years of IUD retention occurred in another. The latter case was notable for extensive in situ squamous cell carcinoma involving the entire uterine cavity and extending to the ectocervix and into both fallopian tubes. in situ hybridization for high-risk HPV dna was negative. These findings raise the possibility of a non-HPV-related pathway for the squamous cell carcinoma case due possibly to prolonged chronic irritation and pyometra. CONCLUSION: The association of low grade stromal sarcoma with the IUD in the first case is extremely rare and most likely coincidental. The squamous carcinoma case, however, may have arisen via a non-HPV-related pathway, possibly related to IUD-induced chronic irritation and pyometra.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/23. Complete hydatidiform mole retaining a chromosome 11 of maternal origin: molecular genetic analysis of a case.Hydatidiform moles are pregnancies characterized by abnormal development of both embryonic and extraembryonic tissues and are associated with the misexpression of imprinted genes. The vast majority of complete hydatidiform moles are diploid and androgenetic, whereas partial hydatidiform moles are triploid, with an extra set of chromosomes of paternal origin. Here, we present an unusual complete mole that showed strong expression of two imprinted, maternally transcribed genes, CDKN1C (encoding p57(KIP2)) and PHLDA2 (TSSC3/IPL), both part of a large imprinted gene domain on chromosome 11. Using microsatellite genotyping and fluorescent in situ hybridization, we show that this paradoxical gene expression was due to retention of a maternal copy of chromosome 11 in addition to the two paternal copies normally present in complete moles. These findings demonstrate that, despite being predominantly androgenetic, some complete moles contain small amounts of dna of maternal origin. Furthermore, these results provide an explanation for rare false negatives that can arise when p57(KIP2) is used as a diagnostic marker for complete moles.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/23. Primary burkitt lymphoma of the uterine corpus.This study reports the first well-documented case of sporadic burkitt lymphoma arising in and confined to the uterine corpus in a 40-year-old woman who presented with vaginal bleeding. Endometrial curettings showed a diffuse infiltrate of medium sized lymphocytes with the characteristic morphologic and immunophenotypic features of burkitt lymphoma. fluorescence in-situ hybridization demonstrated the t(8;14)(q24;q32) translocation. There was no evidence of extra-uterine disease and the patient is alive without disease 10 months after hysterectomy and chemotherapy. This report demonstrates that burkitt lymphoma can present as isolated, organ confined disease at unusual sites and with protean symptoms.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
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