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To evaluate the clinical and prognostic impact of micropapillary pattern in patients with serous borderline ovarian tumors (SBOT).We retrospectively assessed 130 consecutive patients with typical (n=97, 74.6%) or micropapillary (n=33, 25.4%) SBOT. Clinicopathologic factors and outcomes were compared between these two groups.There were no significant between-group differences in age, menopausal status, parity, body mass index, cancer antigen 125 concentration, tumor size, tumor rupture, positive cytology, ovarian surface involvement, retrieved lymph nodes, use of laparoscopy, fertility-sparing and ovary-sparing procedures, complete staging and restaging, and adjuvant chemotherapy. However, the incidences of advanced stage (II-III) tumors (10.3% vs 36.4%, P=0.001), microinvasion (2.1% vs 15.2%, P=0.012), peritoneal implants (8.3% vs 33.4%, P0.001), and lymph node involvement (0% vs 21.2%, P0.001) were significantly higher in patients with micropapillary than with typical SBOT. Five patients with typical (5.2%) and three with micropapillary (9.1%) SBOT had recurrent disease (P=0.418), and one patient (3%) in micropapillary SBOT group died due to the disease (P=0.254). The 5-year disease-free survival (DFS) rates for patients with typical and micropapillary SBOT were 96% and 86%, respectively (P=0.148). All three patients with micropapillary SBOT who had recurrence had peritoneal implants (one noninvasive and two invasive). Multivariate analysis showed that peritoneal implant was the only significant factor related to DFS (P=0.002).Because micropapillary SBOT was significantly associated with peritoneal implants, especially invasive implants, and lymph node involvement, complete staging procedures, including lymph node dissection, are recommended. However, micropapillary SBOT itself was not significantly associated with DFS. Peritoneal implant was the only factor independently associated with tumor recurrence.

Primary extragonadal germ cell tumors are rare and mostly occur in young men with predominance of nonseminomatous histology. We report an undescribed case of primary retroperitoneal dysgerminoma presenting as an adrenal tumor in a 17-year-old girl. Surgery was performed on a 10 × 9.5 cm sized adrenal gland tumor and the resected tumor showed unequivocal histological features of dysgerminoma. The diagnosis was confirmed by the tumor's germ cell immunophenotype. Postoperative ultrasonography, CT and PET over a 6-month period revealed no evidence of ovarian lesion. The patient is stable, but with a suspicious residual tumor after adjuvant chemotherapy.

Purpose To evaluate the technical and clinical safety and the efficacy of Amplatzer Vascular Plug (AVP)-assisted retrograde transvenous obliteration (PARTO) for the treatment of gastric varices (GV) and hepatic encephalopathy (HE). Materials and Methods From April 2009 to December 2011, we evaluated 20 patients (16 men and four women; mean age, 58 years; range, 47-79 years) who had undergone PARTO, 13 of whom had GV and seven who had HE. After retrograde transvenous placement of an AVP into the left adrenal vein, subsequent gelfoam embolization of both the gastrorenal shunt and the GV was performed. Results Placement of the AVP and subsequent gelfoam embolization were technically successful in all 20 patients. There were no procedure-related complications. Follow-up computed tomography (CT) obtained within one week after PARTO showed complete thrombosis of the GV and gastrorenal shunts in all patients. The clinical symptoms of HE were completely resolved in all seven patients with HE and the mean serum NH3 level, which was 127.4 umol/l ± 58 before PARTO, decreased significantly, to 28.1 umol/l ± 9.8, within one week after PARTO (p = 0.002). The clinical success rate was 100%. Improvement in the Child-Pugh score was observed in 12 of 18 patients (66.7%) at one month after PARTO. The mean follow-up period after PARTO was 422 days (range, 170-1168 days). Eighteen patients who had more than a two-month follow-up period, showed complete obliteration of the GV as well as the gastrorenal shunts on both CT and endoscopy. In these 18 patients, four (22.2%) experienced worsening of their esophageal varices at a mean of 9.4 months (range; 1-25 months) after PARTO. There were no cases of variceal bleeding or HE during a mean follow-up period of 422 days (range, 170-1168 days). Conclusion Our preliminary results suggest that PARTO is technically simple and safe and seems to be clinically effective for the treatment of GV and HE. We therefore believe that PARTO results in complete blockage of the gastrorenal shunt with a very high success rate. PARTO also has the potential to become a standard treatment for GV associated with a gastrorenal shunt either in patients with GV or in patients with HE.

This study was a matched case-control study to analyze the clinical and pathological characteristics and the prognosis of patients with small cell neuroendocrine carcinoma in the uterine cervix.Thirty-two patients were treated for small cell neuroendocrine carcinoma of the cervix (SCNEC) at Asan Medical Center between January 1996 and June 2008. For a 1-to-2 matched case-control study, 64 patients with squamous cell carcinoma of the cervix (SCC) whose clinical stage and age are consistent with the SCNEC group were selected. Medical records were retrospectively reviewed to analyze and compare the clinical and pathological outcomes.In the SCNEC group, the median age was 45 years, and early stage (stage IIA or below) was 75.0%. The postoperative adjuvant therapy was given more frequently in the SCNEC group. The recurrence rate was 59.4%, and lung, bone, and liver were common sites in the SCNEC group. Parametrial involvement and lymphovascular space invasion were risk factors in the SCNEC group, whereas lymph node metastasis is the risk factor in the SCC group. The progression-free survival and overall survival were significantly shorter in the SCNEC group than in the SCC group (16.9 and 30.6 months vs 47.7 and 49.1 months, P0.05). Interestingly, survival outcomes in the early stage of SCNEC were remarkably worse than those of SCC and almost identical to those of the advanced stage of SCNEC.We confirmed the unfavorable prognosis related to hematogenous metastasis in SCNEC. The treatment modality of early-stage SCNEC, which is radical hysterectomy followed by adjuvant therapy, needs to be reevaluated.

Teratoid Wilms' tumor is an unusual morphological entity characterized by a classic triphasic malignancy with predominantly heterologous tissue. The authors describe two cases of teratoid Wilms' tumor with an extrarenal site: one in a 13-year-old girl with vaginal spotting (patient 1) and another in a 1-day-old girl with a sacrococcygeal mass (patient 2). The tumors were located in the vagina and coccyx, respectively. Under the initial clinical diagnosis of sarcoma botryoides in patient 1 and teratoma in patient 2, the masses were removed. Microscopically, both tumors were composed of typical triphasic Wilms' tumor tissue with primitive cartilage and skeletal muscle, and squamous and columnar mucinous epithelia. The patient with sacrococcygeal mass (patient 2) had an elevated serum AFP level. The patients were given chemotherapy and have now remained disease free for 7 years 1 month, and 2 years 5 months after surgery, respectively. Familiarity with this rare variant of Wilms' tumor might be important in arriving at a correct diagnosis.

This study evaluated the reliability of magnetic resonance imaging (MRI) in assessing the absence of myometrial invasion in endometrial carcinoma patients, to identify candidates for conservative hormonal treatment.A total of 301 endometrial carcinoma patients who showed Stage I findings on preoperative MRI, and had received staging operations were reviewed retrospectively. We compared MRI findings of myometrial invasion with myometrial invasion levels reported by pathologists when surgical specimens were examined.A descriptive study.Tertiary care gynecologic oncology clinic, Seoul, Korea.A total of 301 endometrial carcinoma patients who showed Stage I findings on preoperative MRI, and had received staging operations.We compared MRI findings of myometrial invasion with myometrial invasion levels reported by pathologists when surgical specimens were examined.Of 301 patients, 17 showed higher stages (FIGO Stages IIA through IIIC) on the final pathology of surgical specimen. Among the 284 patients with Stage I on histology reports, 124 showed no myometrial invasion on preoperative MRI (FIGO Stage IA). The negative predictive value (probability of absence of myometrial invasion) was 49.2%. MRI showed an accuracy of 59.2%, a sensitivity of 68.8%, a specificity of 74.4%, and an 86.9% positive predictive value, for myometrial invasion.MRI had a rather weak predictive value when used to assess absence of myometrial invasion. This should be borne in mind when choosing patients for conservative treatment of endometrial carcinoma.

We describe a case of villotrophoblastic pulmonary nodule with a hitherto unrecognized implantation site intermediate trophoblasts (ISITs) in an asymptomatic 19-year-old woman, who had an induced abortion 1 month before the discovery of a pulmonary nodule. This 8-mm-sized nodule was incidentally identified on chest computed tomography during routine postoperative follow-up for osteosarcoma, for which she was treated with surgery and chemotherapy 3 years previously. The nodule was located in the subpleural lung parenchyma and was composed histologically of a few chorionic villi and trophoblasts surrounded by fibrinoid materials, with individually scattered intermediate trophoblasts at the periphery of the nodule. The intermediate trophoblasts were strongly immunopositive for cytokeratin, human placental lactogen, and Mel-CAM (CD146), but immunonegative for human chorionic gonadotropin and p63, characteristic features of ISITs. Our case indicates that villotrophoblastic pulmonary emboli have the potential to implant after migration from their original sites through the invasive property of ISITs.

Stromal microinvasion has been recently described in ovarian mucinous borderline tumors (MBTs), leading to proposals for new classifications, including a category of MBTs with stromal microinvasion. This study was conducted to test the validity of this belief. To determine whether stromal microinvasion can be distinguishable from extruded neoplastic epithelium from an adjacent ruptured gland, particularly if accompanied by a mucin granuloma (MG) on hematoxylin and eosin (HE)-stained sections, we compared the histopathologic features of 138 primary ovarian mucinous tumors, consisting of 81 MBTs, 37 MBTs with stromal microinvasion, 11 intraglandular carcinomas, 2 with microinvasive foci, and 7 mucinous adenocarcinomas with extensive stromal invasion. Immunohistochemical analysis for cytokeratin was performed in 72 cases. Of 77 cases containing MGs, 52% contained "microinvasive foci," consisting of individually scattered epithelial or irregular glandular components in the intervening stroma, as determined by HE staining. Of the 37 negative cases on HE, cytokeratin reactivity was detected in 15 additional cases with epithelial/glandular components. Therefore, "stromal microinvasion" can be missed on HE. All patients with MBT with or without microinvasive foci and localized intraglandular carcinoma with or without microinvasive foci had stage I tumors; none died of tumor-related causes during the follow-up period. Tumor-related deaths were identified only in 5 patients with extensive stromal invasion. This study suggests that some cases of stromal microinvasion in stage I MBTs not accompanied by high grade nuclear atypia represent mucocele-like stromal reaction to ruptured mucinous glands rather than true stromal invasion because isolated tumor cells were exclusively confined to the boundary of MGs and devoid of obvious cellular atypia, and no patient with stromal microinvasion died of tumor-related causes.

The loop electrosurgical excision procedure (LEEP) is widely used for cervical conization. It is unclear if margin status is the single most important factor for predicting residual or recurrent disease. We therefore sought to determine supplementary histologic factors that can be used to predict residual disease in subsequent hysterectomy specimens in order to select patients at high risk for residual and recurrent disease.The study group comprised 172 women who had undergone LEEP conization and subsequent hysterectomy. Histological findings were assessed and compared in patients with and without residual disease.A univariate analysis revealed that percentage of involved pieces (51% vs. 32%, p0.001), percentage of involved mucosal length (30% vs. 17%, p=0.001), positive endocervical biopsy (77% vs. 45%, p0.001), bulbous growth (73% vs. 44%, p=0.001), pseudogland or central necrosis (73% vs. 26%, p0.001), and severe degree of nuclear atypia (17% vs. 4%, p=0.043) were significantly more frequent in patients with residual tumors among 140 resection margin positive patients, but mitotic count, severe inflammatory cell infiltration, endocervical glandular extension, and cytoplasmic maturation did not differ significantly between the two groups. Multivariate analysis revealed that positive endocervical biopsy, bulbous growth, and central necrosis were associated with residual disease in the resection margin positive patients.In patients with positive LEEP margins in young women who want to preserve her fertility, negative endocervical biopsy, and the absence of bulbous growth or central necrosis can be used as selection criteria for patients who can defer the additional surgery and be closely followed with colposcopic and cytologic examination. Even in samples with negative LEEP margins, the patients who have those histologic parameters may need more careful monitoring for residual tumor or tumor recurrence.

Hydropic swelling, trophoblastic proliferation, and stromal avascularity of chorionic villi are the key features of advanced cases of complete hydatidiform moles (CHMs). Recently, however, the use of high-resolution ultrasonography has enabled earlier detection of CHMs, and these show previously unrecognized histologic features such as numerous immature vascular networks, nonhydropic hypercellular stroma, and frequent karyorrhexis in the villous stroma. To determine whether stromal vasculogenesis is affected in CHMs of very early pregnancy period (VECM), we compared the number of mature and immature blood vessels and their precursors in the villous stroma and counted the rates of stromal apoptosis and proliferation, as defined by immunopositivity for cleaved caspase-3 and Ki-67, in 63 cases of VECM, 11 cases of partial hydatidiform mole (VEPM), and 10 samples of normal placental tissue (NP) before the 13th gestational week. Using antibody to CD31, we found that the number of mature blood vessels with distinct lumen was significantly reduced in both VECM and VEPM compared with NP (P

Objective. To evaluate the impact on prognosis of complete surgical staging in patients with stage I mucinous epithelial ovarian tumors. Methods. We retrospectively reviewed the medical records of all patients with stage I mucinous epithelial tumors apparently confined to ovaries treated in the Department of Obstetrics and Gynecology, Asan Medical Center, from 1990 through 2005. Results. Of 264 patients treated during this time period, 62 (23.5%) had complete and 202 (76.5%) had incomplete initial surgical staging. No patient with clinically apparent stage I borderline tumor was upstaged, 5 of 85 patients with invasive mucinous cancer was upstaged due to positive peritoneal cytology and there was no upstaged patient owing to occult lymph node metastasis. No recurrence was observed in the completely staged and 2 (1.4%) in the incompletely staged group among the patients with borderline tumor developed relapse. Three (11.5%) recurrences in the completely staged and four (6.8%) in the incompletely staged group among the patients with invasive cancer were observed, and the difference was not statistically significant. We also observed no significant differences between two groups in progression-free survival and overall survival. Conclusion. Complete surgical staging could probably be omitted in patients with stage I mucinous epithelial tumors.

We describe a histologic feature useful in the diagnosis of endometrial polyps, namely, the parallel arrangement of the endometrial glands' long axis to the surface epithelium (PGE). Polyps that are removed intact are usually easy to diagnose because of the polypoid appearance plus surface epithelium on all sides. In addition, there are thick-walled blood vessels and irregularly shaped glands. Rarely are all or even some of the characteristic features easy to identify in biopsies and curettage specimens. We evaluated 76 cases of grossly identifiable polyps from hysterectomy or polypectomy (working group) for various histologic features and tested the validity of those findings with another 75 specimens (test group), which had been diagnosed as polyps in another institute by separate investigators. The frequency of the various histologic features in the polyps varied depending on the menstrual state, shape, and histologic types of the polyps. PGE was found in 80% (40 of 50 polyps) of premenopausal women as the most common histologic feature, but it was less common in postmenopausal women (42%, 11 of 26) (P = 0.001). All functional polyps (100%, 19 of 19), many of hyperplastic polyp (65%, 20 of 31), and some fibrous polyps (38%, 8 of 21) showed the change. In premenopausal women, incidence of PGE was significantly different by the polyp's shape or histologic types (P < 0.05), but not in postmenopausal women. PGE was not identified in any of the 56 normal background endometria, even though the surface was often undulated. Almost identical findings were observed in the series from the test group, confirming the validity of this new finding. In summary, PGE, if present, is a useful histologic finding in facilitating the diagnosis of endometrial polyp in curettage specimens.

A case of extensive transitional cell metaplasia (TCM) and ectopic prostatic tissue was encountered in the uterine cervix and vagina of a 23-year-old woman with the adrenogenital syndrome. A previously described case of ectopic prostatic tissue in the cervix in a patient with female pseudohermaphroditism and our case suggest that prolonged androgen stimulation plays a role in the development of prostatic tissue. Similarly, the occurrence of TCM in the perimenopausal and postmenopausal periods when the ovaries secrete androgens, in female transsexuals treated with androgens, and in our patient with high endogenous androgen levels suggest that androgen has a major role in the histogenesis of TCM. Significantly decreased Ki-67 immunopositivity in TCM compared with the normal cervical mucosa of women in the reproductive age indicates that TCM is a mild form of epithelial atrophy, presumably caused by the neutralizing effect of androgens.

Defects in cholesterol biosynthesis genes are recognized as a leading cause for holoprosencephaly (HPE). Previous reports suggest that mutations of human 7-dehydrocholesterol reductase (Dhcr7), which catalyzes the final step of cholesterol biosynthesis, may cause HPE [Clin. Genet. 53 (1998) 155]. To determine whether Dhcr7 mutations are involved in HPE pathogenesis, we analyzed the sequence of exon 9, which contains both a catalytic domain and a mutational hot spot. We examined 36 prematurely terminated fetuses with HPE at their gestation ages in the range from 21 to 33 weeks by single strand conformation polymorphism analysis and DNA sequencing. A novel missense mutation was identified: G344D. Dhcr7 enzyme assays using overexpressed recombinant mutant proteins revealed altered enzyme activity. Mutant G344D harbored less than 50% of enzyme activity compared with the control. Two previously reported mutations, R404C and G410S, abolished enzyme activity. These results suggest that mutation of the Dhcr7 gene is involved in HPE pathogenesis.

Summary IntramucosalHelicobacter pylori(H. pylori) has been described in biopsy tissues and culture systems. However, the association of intramucosalH. pylori with histopathologic features has not been evaluated. The purpose of this study is to investigate the relationship between intramucosal H. pylori and inflammatory reactions inH. pylori infection. In 113 randomly selected human gastric biopsies and 20 murine stomachs, which were inoculated with SS1 every day for a week, immunohistochemical analysis for intramucosal H. pylori was done and correlated with histologic parameters. Electron microscopic examination was done on murine stomachs. H. pylori infection was present in 104 gastric biopsies and 17 murine stomachs. Intraepithelial immunopositivity for H. pylori was detected in 27 of 104 (26%) biopsies and in 11 of 17 (65%) murine stomachs. Lamina proprial immunopositivity for H. pylori was present in 51 of 104 (48%) biopsies. Neutrophil-associated immunopositivity for H. pylori was observed in 22 of 90 (24%) biopsies with H. pylori chronic active gastritis. Lamina proprial and neutrophil-associated immunopositivity for H. pylori correlated significantly with the density of H. pylori and the grade of acute inflammatory reaction in H. pylori gastritis. Intramucosal location of H. pylori itself or its antigen is closely associated with acute inflammatory reactions and may play an important role in establishing a persistent infection in chronic H. pylori gastritis. Furthermore, lamina proprial and/or neutrophil-associated H. pylori appears to be more important than intraepithelialH. pylori in acute inflammatory reactions of H. pylori gastritis.

The purpose of our study was to differentiate subtypes of renal cell carcinoma on helical CT scans.We reviewed CT scans of four subtypes of renal cell carcinoma: 76 conventional (clear cell), 19 papillary, 13 chromophobe, and two collecting duct. Biphasic CT scans (unenhanced, corticomedullary, and excretory phase scans) were obtained in 61 patients, and monophasic CT scans (unenhanced and excretory phase scans) in 49. We compared patient age and sex; tumor size; degree and pattern (homogeneous, heterogeneous, predominantly peripheral) of enhancement; presence or absence of calcification; and tumor-spreading patterns including perinephric change, venous invasion, and lymphadenopathy in four subtypes.Conventional renal carcinoma showed stronger enhancement than the other subtypes (p0.05): 106 +/- 48 H (mean +/- SD) in the corticomedullary phase and 62 +/- 25 H in the excretory phase. The sensitivity and specificity for differentiating conventional renal carcinoma from the other subtypes were 74% and 100% when 84 H was used as the cutoff value in the corticomedullary phase and 84% and 91% when 44 H was used as the cutoff value in the excretory phase. Conventional (84%), papillary (74%), and collecting duct (100%) renal carcinomas tended to show heterogeneous or predominantly peripheral enhancement, whereas chromophobe renal carcinoma (69%) usually showed homogeneous enhancement. Calcification was more common in papillary (32%) and chromophobe (38%) renal carcinomas than in conventional renal carcinoma (11%) (p0.05). Perinephric change and venous invasion were not noted in chromophobe renal carcinoma, whereas both were common in collecting duct renal carcinoma.For the differentiation of the subtypes of renal cell carcinoma, degree of enhancement is the most valuable parameter; enhancement pattern, the presence or absence of calcification, and tumor-spreading patterns can serve supplemental roles in the identification of the subtype of renal cell carcinoma.

We describe the clinical and pathologic features of four cases of nodular histiocytic proliferation in the endometrium. We have been able to find only one brief reference to this lesion in the literature. The lesion in each case was a detached nodule composed of aggregates of histiocytes within a biopsy or curettage specimen. The constituent cells differed from foamy histiocytes of the endometrium in that they had either lobulated or ovoid, vesicular nuclei, distinctive cytoplasmic margins, and a moderate amount of amphophilic cytoplasm. Mitoses were frequent (up to 11 per 10 high-power fields) in one case but were absent in the remaining cases. On immunohistochemical staining, CD68 and lysozyme were strongly expressed in the cytoplasm. Neither estrogen receptor nor progesterone receptor was expressed in contrast to the background endometrium. The cells were also negative for S-100 and cytokeratin. Each patient's postcurettage course was uneventful. The cause of nodular histiocytic proliferation of the endometrium is currently unknown, although response to intracavitary debris has been suggested. The lesion should not be confused with a variety of reactive, inflammatory, or neoplastic conditions, such as xanthogranulomatous endometritis, malakoplakia, histiocytic granuloma, hormonal changes of the endometrial stroma, Langerhans' cell histiocytosis, morular metaplasia, extravillous trophoblast, or exaggerated placental site reaction.

Conclusions: Sensitivity for CIN3+ of p16/Ki-67 from SurePath medium in women with HPV positive LSIL is sufficient that immediate colposcopy is not required for women who are p16/Ki67 negative. Compared to current guidelines for LSIL cytology, p16/ Ki-67 triage could reduce immediate referral to colposcopy by 35%. Unlike p16 alone, which requires morphologic assessment of p16positive cells, p16/Ki-67 evaluation is based on staining alone and may be fully automated. Further studies are required to evaluate p16/Ki-67 for triage of HPV-positive women with NILM and ASC-US. If a negative predictive value of similar magnitude is observed for these women, a substantial and welcome decrement in the total number of colposcopies required will be possible without significant loss of sensitivity for the screening program.

Background MicroRNA (miRNA) expression is known to be deregulated in cervical carcinomas. However, no data is available about the miRNA expression pattern for the minimal deviation adenocarcinoma (MDA) of uterine cervix. We sought to detect deregulated miRNAs in MDA in an attempt to find the most dependable miRNA or their combinations to understand their tumorigenesis pathway and to identify diagnostic or prognostic biomarkers. We also investigated the association between those miRNAs and their target genes, especially Notch1 and Notch2. Methods We evaluated miRNA expression profiles via miRNA microarray and validated them using.real-time PCR assays with 24 formalin-fixed, paraffin-embedded tissue blocks of MDA and 11 normal proliferative endocervical tissues as control. Expression for Notch1 and 2 was assessed by immunohistochemistry. Results MiRNA-135a-3p, 192-5p, 194-5p, and 494 were up-regulated, whereas miR-34b-5p, 204-5p, 299-5p, 424-5p, and 136-3p were down-regulated in MDA compared with normal proliferative endocervical tissues (all P

Neoplasm of the vulva is a rare malignancy accounting for

We describe a rare case of a bipartite, diamnionic monochorionic twin placenta with superficial vascular anastomoses.

Differential staining with cytokeratin (CK)-7 and CK-20, two members of a complex family of proteins in human epithelial cells, proved critical in showing that the extremely well-differentiated goblet-cell (intestinal) mucinous epithelium lining the surface of the endometrium and endocervix in two patients and the fallopian tube in one was identical to that of the coincident appendiceal neoplasms. One of these patients also had a large ovarian tumor that grossly and microscopically resembled a mucinous cystadenoma of borderline malignancy and would have been considered primary except for the CK stains (CK-20 positive and CK-7 negative), which suggested metastasis from the appendix, presumably by a transtubal route.

Intersexuality involves an intermingling of the characteristics of each sex in varying degrees as a result of some flaw in embryonic development. Accurate demonstration of genital anatomy is essential for proper gender assignment and for treatment of intersexual disorders. Genital anatomy is well demonstrated with MR imaging, which offers unsurpassed soft-tissue contrast, multiplanar capability, and no radiation exposure. Intersexual disorders can be categorized into female pseudohermaphroditism, male pseudohermaphroditism, gonadal dysgenesis or agenesis, and true hermaphroditism. In female pseudohermaphroditism, MR images show normal internal female genitalia with masculinized external genitalia. In male pseudohermaphroditism, MR images show normal or mildly defective testes with incompletely masculinized external genitalia. In gonadal dysgenesis, combinations of normal, dysgenetic, and streak gonads are seen on MR images; in gonadal agenesis, no gonads are evident. In true hermaphroditism, both testicular and ovarian tissue is seen on MR images. MR imaging is essential for management of intersexual disorders.

Fibroepithelial stromal polyp (FSP) is a benign lesion that can occur at various sites, including the lower female genital tract. In rare cases, however, it may exhibit hypercellularity, bizarre cytomorphological features, and atypical mitoses resulting in an overdiagnosis as a malignant tumor despite its benign clinical course. Recently, we experienced one case of a 30-year-old pregnant woman with cellular pseudosarcomatous FSP that was initially diagnosed as a malignant fibrous histiocytoma at a primary clinic. In addition to describing the rare features of this case, we wish to increase awareness about this benign lesion which will be essential for avoiding unnecessary radical surgery or chemoradiation treatment.

Wilms' tumor is one of the most frequent malignant neoplasms in childhood. Advances in treatment modalities such as the combination of chemoradiation therapy with surgery have enhanced overall survival. However, recurrence of Wilms' tumor is still a problem. In this case, a 28-year-old female had experienced intermittent abdominal pain, and the computed tomography scan showed a huge pelvic mass. The patient had a history of radical nephrectomy for Wilms' tumor with concurrent chemotherapy at the age of three. The pelvic mass was resected in February 2010 and was confirmed to be a recurrent Wilms' tumor. The recurrent tumor showed a classic triphasic Wilms' tumor growth pattern with frequent mitoses and tumor necrosis. Our case is an extraordinary case of a long-delayed recurrent Wilms' tumor after 25 years, which is the longest disease-free interval ever reported. The possible effects of chemotherapy as well as some other mechanisms of this late relapse are discussed.

Background and Aims: Thyroid dysfunction is very common among preterm infants and is associated with neurodevelopmental impairments. To determine the incidence and natural course of various thyroid dysfunctions and their impacts on neurodevelopmental outcomes of premature infants. Methods: Infants of gestational age < 34 weeks or whose birth weight was < 1,500 g were enrolled during 24 month study period (n=177). We measured TSH and FT4 levels at ≤ 7 days old, 4 weeks of age and prior to discharge. Furthermore, we assessed how various thyroid dysfunctions affected neurodevelopmental outcomes at 18 months of corrected age. Results: Thyroid dysfunction was noted in 88 subjects. Hypothyroxinemia was observed in 23 (13.0%) subjects and was more commonly observed in infants of lower GA and their thyroid function was influenced by variable clinical factors. Free T4 level was all normalized in these patients without thyroxine medication and neurodevelopmental outcome was not affected. In contrast, hyperthyrotropinemia was not associated with other clinical factors. Among 58 (32.8%) subjects who had hyperthyrotropinemia, only 31 infants showed normal TSH levels at follow up tests. The remaining infants (n=27, 15.3%) had persistently high TSH levels, which significantly impacted poor neurodevelopmental outcomes. Conclusions: Thyroid dysfunction is common among preterm infants. With the exception of persistent hyperthyrotropinemia, it generally dose not affect neurodevelopmental outcomes. However, the beneficial effects of thyroid hormone therapy in patients with persistent hyperthyrotropinemia merits further study.

142 Background: The pharmacokinetics and pharmacodynamics of tamoxifen may influence the clinical outcome and tolerability of adjuvant treatment with tamoxifen in breast cancer. We investigated the effects of polymorphisms of CYP2D6, ESR1, and ESR2 for tamoxifen therapy in early stage breast cancer patients. Methods: Tissue DNA from 187 patients who received tamoxifen only as an adjuvant systemic therapy between 1997 and 2002 were extracted and genotyped for polymorphisms of CYP2D6 (*2A, *10, *14, *41) and estrogen receptor (ESR1, ESR2). While CYP2D6*10, *14 and *41 have been reported to be associated with decreased activation of tamoxifen, CYP2D6*2A, ESR1 PvuII CC and ESR2-02 GG have been associated with enhanced activity of tamoxifen. Statistical analyses include Fisher exact test, Chi-square and Kaplan-Meier analyses. Results: Median age was 43 years (range 25-49). Most of the patients (170/187) were stage I, while other patients were stage 0 (1/187) and stage II (17/187). None of the patients had nodal metastasis. Median follow-up was 100 months (7-166). Allele frequencies were as follows: CYP2D6*10, 0.69; *14, 0.02; *41, 0.01; *2A, 0.64; ESR1 PvuII C allele, 0.25; ESR2-02 G allele, 0.98. Each genotype group did not show significant differences in age, stage, pT, tumor size and follow up period. Twelve percent (24/187) had received tamoxifen therapy for less than 24 months. Of the 24 patients, 67% (16) discontinued tamoxifen therapy related to tolerability issues. Recurrence occurred in 12 patients (6.4%). There was no association between genotypes with either recurrence or tamoxifen duration < 2 years. Although statistically nonsignificant, patients with either CYP2D6*2A homozygote, ESR1 PvuII CC genotype, ESR2-02 GG genotype tended to have a longer DFS when compared concomitantly to wild-type (p=0.445). Conclusions: Polymorphsims for CYP2D6*2A,*10, *14, *41, ESR1 PvuII, ESR2-02 did not show significant associations with either recurrence or tamoxifen duration > 2 years. However, grouped analysis for CYP2D6*2A, ESR1 PvuII, ESR2-0210 genotypes need further evaluation regarding with tamoxifen outcome.

Endometrial stromal tumor is an uncommon uterine tumor comprising

Androgen insensitivity syndrome cases have an increased risk of developing testicular cancer due to many factors such as mutations, hormonal disturbances involving gonadotropins and cryptorchidism. However, malignant germ cell tumor is relatively rarely found compared to those seen in other types of intersex. Recently, the authors experienced a case of malignant mixed germ cell tumor with lymph node metastasis and chemotherapy resistance which was developed in a 31-year-old patient with complete androgen insensitivity syndrome.

Gonadoblastoma and dysgerminoma developed in a 24-year-old phenotypic female patient with 46,XY pure gonadal dysgenesis. This patient presented with primary amenorrhea. Clinical characteristics showed a typical stigmata of gonadal dysgenesis: primary amenorrhea, sexual infantilism, a small uterus and bilateral streak gonads. A 46,XY karyotype was made by lymphocyte culture. The patient was counseled to undergo a prophylactic bilateral gonadectomy, but she refused. Three years and three months after the initial diagnosis she felt a growing pelvic mass. Bilateral gonadectomy and total hysterectomy were performed. Histological examination revealed gonadoblastoma and dysgerminoma on both gonads. After surgery the patient received radiation therapy and also was started on hormone replacement therapy. Two years and two months after treatment by surgery the patient is well and free of recurrence.

Objective: To compare the angiogenic activities of endothelial cells in the eutopic endometrium of women with and without endometriosis. Design: Vessels with active angiogenesis were identified using the monoclonal antibody to endoglin. Setting: University department of obstetrics and gynecology. Patient(s): Twenty women with histologically confirmed endometriosis after laparotomy or laparoscopy. Women with carcinoma in situ of uterine cervix, but no evidence of endometriosis (n = 20), served as control subjects. Intervention(s): Formalin-fixed, paraffin-embedded archival tissues were sectioned and stained. Main Outcome Measure(s): Number of vessels stained with monoclonal antibody to endoglin. Result(s): For all menstrual phases, the mean number of vessels with endoglin expression was significantly greater in patients with endometriosis compared with control subjects. In each menstrual phase, a significant difference was observed only during the late secretory phase. Within the group with endometriosis, the mean numbers of vessels with endoglin expression in stages I and II were not different from the numbers in stages III and IV. Conclusion(s): This study shows the expression of endoglin in the eutopic endometrium of women with endometriosis is significantly increased and the increase is observed only in the late secretory phase. It is suggested from these findings that activation of angiogenesis in the eutopic endometrium might be a key factor in the pathogenesis of endometriosis.

Purpose: To assess the prevalence of KRAS, BRAF, and TP53 mutations in cases of low-grade and high-grade serous carcinomas and to evaluate the clinical outcomes of these morphologically distinct carcinomas. Materials and Methods: Patients with primary invasive serous carcinomas were classified according to the universal grading system. Grade 2 serous tumors were excluded. A total of 100 patients were included for clinical evaluation. Thirty-seven patients, including 20 with low-grade and 17 with high-grade carcinomas, were selected for mutational analysis. Results: The low-grade carcinoma group was characterized by young age and premenopausal period compared with the high-grade carcinoma group, but there were no statistically significant differences in stage, metastasis of lymph node and residual disease. There were no statistically significant differences in survival rates, however, the low-grade carcinoma group showed a trend for improved progression-free survival compared with the high-grade carcinoma group of early stage (p = 0.064). Mutations in KRAS and BRAF were found in 6 (30%) and 2 (10%) patients in the low-grade carcinoma group, respectively, however, they were not found in the high-grade carcinoma group. KRAS and BRAF mutations were mutually exclusive, and both mutations were observed in 40% (8/20). The frequency of TP53 mutations in low-grade and high-grade carcinoma groups were found in 20% (4/20) and 70.6% (12/17), respectively (p = 0.009). Conclusion: Low-grade serous carcinoma shows mutation pattern different from that with high-grade carcinoma. As there were no significant differences in stage distribution and survival, especially in advanced stage, we suggest that more studies are needed to segregate these patients into distinct disease entities.

목 적:자궁 장액성 선암종은 자궁 내막양 선암종보다 나쁜 임상적 예후를 보이기 때문에 수술 전 정 확한 감별진단이 중요하다. 저자들은 파라핀 절편을 이용하여 이 두가지 종양의 감별에 유용한 면역조직 화학 표지자를 찾아보고자 한다. 방 법:저자들은 각각 낮은 등급의 자궁내막양 선암종 19증례, 높은 등급의 자궁내막양 선암종 19증 례, 자궁 장액성 선암종 13증례를 포함하는 3개의 조직 칩들을 대상으로 MLH1, MSH2, p53, PTEN, c-erb B2, estrogen receptor(ER), progesterone receptor(PR), E-cadherin, and β-catenin에 대 한 면역조직화학 검사를 실시한 후 염색 패턴을 비교 분석하였다. 결 과:자궁 장액성 선암종이 높은 등급의 자궁 내막양 선암종보다 p53의 유의한 발현 증가(p=0.003)를 보였다. 낮은 등급의 자궁 내막양 선암종이 자궁 장액성 선암종보다 유의한 p53의 발현 감소(p