Cases reported "Endometrial Neoplasms"

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1/7. Endometrial stromal sarcoma with a sole t(X;17) chromosome change: report of a case and review of the literature.

    BACKGROUND: Endometrial stromal sarcomas (ESSs) exhibit varying degrees of malignancy and heterogeneity at the karyotypic level. The biological mechanisms that contribute to tumorigenesis of ESS are still largely unknown. CASE: A 33-year-old woman suffering from ESS was treated primarily surgically. Cytogenetic evaluation of the primary uterine nodule and metastatic tumor showed 46,XX,t(X;17)(p11:q23) karyotype in all metaphases analyzed. Normal endometrial cells exhibited 46,XX karyotype. fluorescence in situ hybridization analysis confirmed the presence of the reciprocal t(X;17) translocation and allowed for the positioning of the chromosome X breakpoint distal to SSX1 gene loci. CONCLUSIONS: Our report of a previously undescribed sole cytogenetic translocation in an advanced stage of ESS might identify a cytogenetically distinct subgroup of ESS and help to reveal genes involved in ESS tumorigenesis.
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2/7. An unusual composite endometrial tumor combining papillary serous carcinoma and small cell carcinoma.

    This is the first report in the English literature of a composite endometrial tumor composed of papillary serous carcinoma and small cell carcinoma. A 79-year-old woman underwent total abdominal hysterectomy and left salpingo-oophorectomy due to endometrial carcinoma. Grossly, the uterus was enlarged with an irregular and nodular serosal surface, thickened myometrium, and irregular endometrium. Microscopic examination revealed an endometrial carcinoma composed of papillary serous carcinoma and small cell carcinoma. There was a differential immunoreactivity between the two components: the cells of the papillary serous carcinoma were positive for cytokeratin, CA-125, CEA, and HER-2/Neu, whereas these markers were negative in the small cell carcinoma. Various neuroendocrine markers were positive in the small cell carcinoma and negative in the papillary serous carcinoma. fluorescence in situ hybridization analysis using 4, 8, and 10 centromeric probes revealed hyperploidy (6-8 signals) in the small cell carcinoma cells. Most of the serous carcinoma cells were euploid, with scattered trisomies and tetrasomies of these chromosomes. The patient died of progressive disease 5 months after surgery. We suggest that the small cell carcinoma may have arisen from the endometrial papillary serous carcinoma undergoing tumor progression with neuroendocrine differentiation.
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3/7. HER-2/neu overexpression in uterine papillary serous cancers and its possible therapeutic implications.

    Uterine papillary serous carcinoma (UPSC) is a highly aggressive variant of endometrial cancer with features similar to high-grade ovarian cancer. patients tend to be elderly, thin, have a high grade tumor with extensive extrauterine disease at the time of diagnosis. The transmembrane receptor encoded by the HER-2 cellular oncogene is amplified in several types of human carcinomas and provides an attractive therapeutic target. HER-2/neu, the transmembrane receptor encoded by the c-erbB2 gene, is overexpressed by immunohistochemistry in <25% of ovarian cancers and 20-30% of breast cancers, and <10% of endometrial cancer. There are prognostic and therapeutic implications associated with the overexpression of this transmembrane protein. Herceptin, a humanized murine monoclonal antibody directed against the extracellular domain of the HER-2/neu protein, is being used to treat breast cancer that overexpresses HER-2/neu. We reviewed all patients diagnosed with UPSC between 1999-2001. Twenty-six patients were identified, and 19 patients had specimens available for evaluation. We performed immunohistochemical analysis (Herceptest, Dako, Carpinteria, CA) on 19 paraffin embedded blocks of UPSC tumors looking for HER-2/neu over expression. Five out of 19 (26%) stained heavily (3 ) for HER-2/neu receptor protein. Four of these five patients had advanced disease at diagnosis. Two of these patients were subsequently treated with Herceptin; one with complete response and one with stable disease based on CT scan and CA-125 findings. Targeting HER-2/neu may be beneficial for a select group of patients with UPSC. We are continuing to evaluate samples for HER-2/neu over expression by fluorescence in situ hybridization (FISH).
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4/7. Condyloma and cervical intraepithelial neoplasia of the endometrium.

    Many studies have shown the presence of squamous metaplasia, dysplasia, carcinoma in situ and squamous cell carcinoma of the endometrium, whether they arose de novo or from direct extension from the cervix. Condyloma associated with squamous metaplasia or dysplasia of the endometrium is rare. We report a case of cervical intraepithelial neoplasia (CIN I) and condyloma of the endometrium. A 58-year-old woman presented with high-grade dysplasia on two successive pap smears. A total vaginal hysterectomy showed extensive CIN I and condyloma involving the entire endometrium. dna in situ hybridization and polymerase chain reaction documented the presence of condyloma.
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5/7. Report of three new cases of squamous carcinoma of the endometrium with emphasis in the HPV status.

    Primary squamous cell carcinoma of the endometrium is exceedingly rare. Only 31 cases that fulfill Fluhmann's criteria have been reported in the literature. We report three cases of primary squamous cell carcinoma of the endometrium. In two of the three cases, estrogen receptor (ER) and progesterone receptor (PR) status were analyzed. Only one case contained ER/PR. Additionally, in situ hybridization was performed to determine the presence of human papillomavirus (HPV) in these cases. HPV was not detected in these three cases of primary squamous cell carcinoma of the endometrium.
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6/7. An endometrial polyp with a rearrangement of HMGI-C underlying a complex cytogenetic rearrangement involving chromosomes 2 and 12.

    Cytogenetic studies of an endometrial polyp of an 82-year-old patient revealed a karyotype 46,XX,der(2)inv(2)(p25q21)ins(2;12)(p25;q13q14)t(2;12)(q21; q15),der(12)del(12)(q13q14)del(12)(q15). By fluorescence in situ hybridization (FISH) we found the chromosome 12 translocation breakpoint to be mapping within the third intron of the HMGI-C gene also harboring the breakpoints of translocations involving 12q15 seen in uterine leiomyomas, lipomas, pleomorphic adenomas, and pulmonary chondroid hamartomas.
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7/7. Squamous metaplasia of the endometrium associated with HPV 6 and 11.

    Although uncommon in the endometrium, squamous metaplasia, dysplasia, and squamous carcinoma have been observed. Associated human papillomavirus (HPV) infection is also unusual, due at least in part to the fact that HPV requires specific characteristics of the target epithelium for infectivity. We report a case of extensive squamous metaplasia with focal low-grade squamous intraepithelial neoplasia of the endometrium coexistent with low-grade cervical intraepithelial neoplasia and an invasive squamous carcinoma of the vagina. in situ hybridization studies revealed HPV types 6 and 11 in both the cervical and endometrial lesions. This is the first report to date to demonstrate squamous epithelial metaplasia and dysplasia of the endometrium, associated with HPV dna of viruses typically of low oncogenic potential.
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