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Background Inoperable, locally advanced breast cancer (LABC) is common in the elderly. Studies have shown good responses with neoadjuvant chemo- and endocrine therapy. However, studies targeting the elderly population are rare. Aim: To assess complete pathological response rate (pCR) following neoadjuvant chemotherapy (NACT) and to evaluate the effectiveness of this therapeutic option in elderly women with LABC. Patients: Women (≥70 years) diagnosed at our University Hospital with LABC between 1999 and 2010 and treated with neoadjuvant chemotherapy. After neoadjuvant systemic treatment pCR was assessed if surgery was performed. Results: 44 women with a mean age of 74.9 (70-93) years were included. Most tumors were ductal (IDA 88.6%), of grade 3 (79.5%) and hormone-receptor (HR) negative (61.4%). Among the 21 tumors (47.7%) that were HER2+ (immunohistochemistry (IHC) 3+ or 2+ and FISH+), all but 3 received neoadjuvant Trastuzumab. Only 4 patients had no surgery (clinical decision or personal choice) while the remaining 40 patients underwent either breast-conserving surgery (17.5%) or mastectomy (82.5%). 23 patients (52.3%) had pathological partial response, 14 patients (31.8%) pCR and 3 patients no response. pCR was more frequently achieved in HR-negative (44.4%) than in HR- positive patients (11.8%). In both groups HER2 positive tumors had better pathological response than HER2 negative tumors. After a mean follow-up of 41 months (5-120) 29 patients (65.9%) had no evidence of disease, 6 patients (13.6%) had (loco)regional recurrence, 12 patients (27.2%) developed metastatic disease and 6 patients (13.6%) died because of breast cancer. Relapse was more frequently seen in patients with a pPR (47.8%) versus patients with a pCR (14.3%). Conclusion: In a selected population of elderly patients with LABC and treated with neoadjuvant chemotherapy, a reasonable percentage of pCR can be achieved. Concordant with younger populations, this percentage is higher in HR-/HER2 positive breast cancer. Neoadjuvant chemotherapeutic treatment can thus be as beneficial for the older patient as for younger ones. In fit elderly patients, neoadjuvant chemotherapy should therefore not be omitted solely on the basis of advanced age. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P3-14-22.

Background Epidemiologic studies show an age related decrease in the frequency that breast cancers are triple negative (TN) (estrogen receptor, progesterone receptor and HER-2 negative). Parity increases the risk of TN breast cancer as a previous full-term pregnancy mainly protects against ER+ breast cancer. It is unknown whether this protective affect appears at all ages of breast cancer diagnosis. We study the frequency of triple negative breast cancers by parity and age at breast cancer diagnosis. Methods We performed a retrospective case-case analysis including 1583 consecutive female patients with primary diagnosis of invasive breast cancer, < 51 years at diagnosis. We compared the frequency of TN tumors between parous (N = 1271) and nulliparous (N = 312) women in three age categories (21 to 30 yrs, 31 to 40 yrs and 41 to 50 yrs). For statistical analysis we used a logistic regression model. Results We confirmed a decrease of TN breast cancer with age (p < 0.0001). This decrease is stronger pronounced in the nulliparous group. Parity favors TN tumors only in women > 40 years at breast cancer diagnosis. Discussion: Although several other factors may affect the frequency breast cancers are TN, age at breast cancer diagnosis interacts with the effect of a previous pregnancy on the frequency breast cancers are TN. Breast cancers in young women (< age 40) may have been initiated long before pregnancy can induce a protective effect against ER-positive cases. The international BCAC has recently accepted to validate our UZ Leuven findings. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P1-08-20.

Introduction:Wilms tumor gene 1(WT1) contributes to uterine sarcoma tumor biology. In this study, we aimed to clarify the prognostic value of WT1.Methods:A retrospective clinical and histopathological review of 71 women with high-grade uterine sarcoma (leiomyosarcoma [n = 24], undifferentiated sarcoma [n = 9]), and carcinosarcoma (n = 38) was performed. Patients were followed up for at least 12 months.Wilms tumor gene 1expression was determined by immunohistochemistry. Data on recurrence (progression-free survival) and overall survival (OS) were available for all patients. Univariate and multivariate analyses of WT1 expression were carried out using Kaplan-Meier curves and Cox regression, respectively.Results:Forty-nine (69%) tumors were WT1 positive. Forty-seven (66%) patients died of the disease, with a median OS time of 22 months. Wilms tumor gene 1 was a predictor of survival in the univariate analysis: the hazard ratio of WT1 positivity was 2.44 (95% confidence interval, 1.34-4.71) for progression-free survival and 2.48 (95% confidence interval, 1.26-4.90) for OS. Multivariate analysis including stage, age, tumor size, and sarcoma subtype identified only stage and WT1 positivity as independent prognostic markers for survival.Conclusions:The identification of WT1 as a prognostic marker confirms its role in high-grade uterine sarcoma and carcinosarcoma tumor biology.

Background: Histologic grade 2 breast cancer may benefit most from molecular classification for prognosis. We studied the prognostic value of ‘detection mode’ and ‘palpability’ together with other prognostic variables in a consecutive series of grade 2 lesions. Patients and methods: We used follow-up data from new diagnosed and primary operable grade 2 breast cancers from UH Leuven (January 2000 - May 2005). Endocrine, chemo-and radiotherapy were given when indicated. The first appearing breast cancer related event (BCRE) was calculated as local (local, regional or contra-lateral) or metastatic (metastatic if both appeared together). These prognostic variables were assessed: age at diagnosis (per decade increase), tumor size (per cm increase), screening (yes/no), palpability (yes/no), lobular type (yes/no), chemotherapy (yes/no), endocrine therapy (yes/no), lymph node status (0, 1, 2-4, >4), combined expression of IHC-measured ER (pos = any expression), PgR (pos if any expression) and HER-2 (positive = IHC2/3+ and FISH pos), architectural, nuclear and mitotic score. Univariable and multivariable proportional hazards Cox regression using the Firth's penalization method to reduce bias in the parameter estimates were used. Results: Of the 1013 patients in the dataset, 14 had missing values (1.4%). With a median follow-up of 80 months, we observed 116 BCRE (11.6%); 43 local and 73 metastatic. In univariable analysis, screen detected cancers showed better (HR 0.63, 95% CI 0.42-0.93) and palpable cancers worse prognosis (HR 1.96, 95% CI 1.13-3.71) than non-screen detected and non-palpable cases respectively. The beneficial univariable effect of screening weakened in the multivariable analysis (HR 0.83, 95% CI 0.52-1.31) as 582/602 (97%) of non-screen detected cancers were palpable vs 227/397 (57%) for screen-detected cancers. If palpable was omitted from the multivariable model the HR of screening decreased to 0.68 (95% CI 0.44-1.03) thereby approximating its univariable result. Conclusion: Overall, palpability is more strongly related to prognosis, but detection method also has an effect even though we do not have enough events to show this with a convincing level of reliability. Citation Information: Cancer Res 2010;70(24 Suppl):Abstract nr P4-08-09.

Purpose To investigate whether the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) can improve the Nottingham Prognostic Index (NPI) in the classification of patients with primary operable breast cancer for disease-free survival (DFS). Patients and Methods The analysis is based on 1,927 patients with breast cancer treated between 2000 and 2005 at the University Hospitals, Leuven. We compared performances of NPI with and without ER, PR and/or HER2. Validation was done on two external data sets containing 862 and 2,805 patients from Oslo (Norway) and Auckland (New Zealand), respectively. Results In the Leuven cohort, median follow-up was 66 months, and 13.7% of patients experienced a breast cancer–related event. Positive staining for ER, PR, and HER2 was detected, respectively, in 86.9%, 75.5%, and 11.9% of patients. Based on multivariate Cox regression modeling, the improved NPI (iNPI) was derived as NPI − PR positivity + HER2 positivity. Validation results showed a risk group reclassification of 20% to 30% of patients when using iNPI with its optimal risk boundaries versus NPI, in a majority of patients to more appropriate risk groups. An additional 10% of patients were classified into the extreme risk groups, where clinical actions are less ambiguous. Survival curves of reclassified patients resembled more closely those for patients in the same iNPI group than those for patients in the same NPI group. Conclusion The addition of PR and HER2 to NPI increases its 5-year prognostic accuracy. The iNPI can be considered as a clinically useful tool for stratification of patients with breast cancer receiving standard of care.

Objective: To evaluate lymphangiogenesis and lymph vessel space involvement in different subsets of endometrial cancer using podoplanin, a specific marker for lymphatic endothelium. Methods: Sixty-two patients undergoing a hysterectomy with lymphadenectomy were included. Distribution of histopathologic subtypes was as follows: 30 endometrioid (48%), 18 serous (29%), 9 clear cell carcinoma (15%), and 5 carcinosarcomas (8%). Distribution of surgical stage according to the International Federation of Gynecology and Obstetrics 2009 criteria was as follows: 33 stage I (53%), 7 stage II (11%), 1 stage IIIA (2%), 15 stage IIIC1 (24%), and 6 stage IIIC2 (10%). Tumor samples were immunostained for podoplanin and the panendothelial marker, CD31. Peritumoral and intratumoral blood vessel density and lymph vessel density were assessed using an image analysis system that calculated mean vessel cross-sectional area (in micrometer squared) and vessel density (per millimeter squared). Presence of blood vessel space involvement and lymph vessel space involvement was screened for. The findings were linked with clinical outcome using Cox regression. Results: Twenty-one patients (34%) experienced recurrence, and 13 (21%) died of disease. Univariate analysis showed that blood vessel space involvement was related to worse overall survival (hazard ratio, 6.59; 95% confidence interval, 1.30-120). Multivariate analyses confirmed the prognostic importance of this variable for overall survival (hazard ratio, 7.52; 95% confidence interval, 1.32-144). Conclusion: Blood vessel space involvement is a prognostic marker for worse survival. Although lymph vessels were stained with the most reliable marker, podoplanin, lymph vessel density and lymphovascular space involvement do not seem to be of prognostic importance.

Array CGH was used to identify recurrentcopy number alterations (RCNA) characteristic of eitherBRCA1-related or sporadic ovarian cancer. After pre-processing, both groups of patients were modeled using arecurrent Hidden Markov Model to detect RCNA.RCNA with a probability higher than 80% were called.After removing RCNA present in both groups, the genespresent in the remaining RCNA were investigated forenrichment of pathways from external databases. MoreRCNA were observed in the BRCA1 group, and theydisplay more losses than gains compared to the sporadicgroup. When focusing on the type of RCNA, nosignificant difference in length was seen for the gains,but there was a statistically significant difference for thelosses. In the sporadic group, a great proportion of thealtered regions contain genes known to have a function incell adhesion and complement activation, whereas theBRCA1 samples are characterized by alterations in theHOX genes, metalloproteinases, tumor suppressor genes,and the estrogen-signaling pathways. We conclude thatBRCA1 ovarian tumors present a different type, number,and length of RCNA; a huge amount of the genome islost, resulting in important genomic instability. Moreover,important biological pathways are altered differentiallywhen compared to the sporadic group.Hum Mutat 30:1693–1702,2009. &2009 Wiley-Liss, Inc.KEY WORDS: array CGH; BRCA1; ovarian cancer;hidden Markov model; recurrent copy number alterations

Aim: Basal-like breast tumours, as defined by microarrays, carry a poor prognosis and therapeutic options are limited to date. Often, these tumours are defined as oestrogen receptor (ER) negative/progesterone receptor (PR) negative/human epidermal growth factor receptor 2 (HER-2) negative (triple negative) by immunohistochemistry (IHC), but a more complete definition should include expression of basal cytokeratins (CK5/6, CK14 or CK17) and/or human epidermal growth factor receptor 1 (HER-1). The aim of this study was to investigate to what extent CK5/6 and HER-1 characterise the group of triple negative breast cancers. Methods: Expression of CK5/6 and HER-1 was studied by IHC in 25 triple negative breast carcinomas and 32 grade-matched, non-triple-negative controls. All 57 cases were further subjected to fluorescence in situ hybridisation to investigate HER-1 gene copy number. Results: CK5/6 and HER-1 expression was most frequent in triple negative tumours: 22 out of 25 cases (88.0%) expressed at least one of these markers (60.0% CK5/6 positive and 52.0% HER-1 positive). In the control group, CK5/6 and HER-1 expression was found in ER-negative but not in ER-positive tumours (ER negative/PR negative/HER-2 positive tumours: 20.0% CK5/6 positive and 46.7% HER-1 positive). HER-1 gene amplification was found in five cases only: four triple negative (16.0%) and one ER-negative control (ER negative/PR negative/HER-2 positive, 6.7%). Of interest, all five HER-1 amplified cases showed a remarkably homogeneous HER-1 expression pattern. Conclusion: Expression of CK5/6 and HER-1 is frequent in ER-negative breast cancers, in triple negative and in non-triple negative tumours. In a minority of cases, HER-1 overexpression may be caused by HER-1 gene amplification. Further studies are needed to investigate whether such cases might benefit from anti-HER-1 therapy

Innervation of deep endometriosis has recently been linked to its severe pain symptoms. We demonstrated for the first time that the Wilms' tumor gene 1 is overexpressed in part of these nerves. ispartof: Fertility and Sterility vol:91 issue:4 pages:1441-1444 ispartof: location:United States status: published

OBJECTIVE: Wilms' tumor gene (WT1), located on chromosome 11, encodes a transcription factor that contributes to the carcinogenesis of uterine sarcomas. To expand the knowledge on the biological role of WT1 in other uterine cancers, we focused on its detection in endometrial carcinoma. METHODS: In total, 36 paraffin-embedded tumors were available for WT1 immunohistochemical (IHC) analysis including endometrial endometrioid carcinoma (n=24), serous carcinoma (n=9) and clear cell carcinoma (n=3). Three slides from different sites of the tumor were analysed. Of these tumors, 32 snap frozen tissue samples were available for RT-PCR (endometrioid carcinoma (23), serous carcinoma (7) and clear cell carcinoma (2)). To compare, WT1 expression was also evaluated by IHC in benign endometrium (12) and benign endometrial polyps (5). RESULTS: WT1 positivity was noticed in tumor cells and endothelial cells, lining the intratumoral blood vessels. Overall, 72% (26/36) of tumors stained positive for WT1. RT-PCR results showed WT1 positivity in 75% (24/32) of samples. Comparing the staining patterns of the 3 different bioptic sites, tumor heterogeneity was demonstrated in the majority (72%) of samples. CONCLUSION: Although WT1 is expressed in a majority of endometrial carcinomas, a heterogeneous staining pattern is observed. This information is important for WT1-directed immunotherapy. ispartof: Gynecologic Oncology vol:111 issue:3 pages:502-508 ispartof: location:United States status: published

Prader-Willi syndrome is associated with hypogonadism. Cryptorchidism is found in 93% of cases and considered a phenotypic criterion. Men with Prader-Willi syndrome are thought to be infertile. To study the fertility probability in boys with Prader-Willi syndrome we analyzed testicular histology in 8 prepubertal boys and 1 man.Eight boys 16 months to 14 years old with a proven molecular diagnosis of Prader-Willi syndrome, including 6 with a deletion on chromosome 15 and 2 with uniparental maternal disomy of chromosome 15, underwent orchiopexy and the man underwent unilateral orchiectomy. Prepubertal testes were classified into 4 Nistal categories according to mean tubular diameter, the tubular fertility index (average percent of tubules containing spermatogonia) and the Sertoli's cell index.Two of 8 prepubertal boys showed a favorable Nistal score of I, 1 showed a Nistal score of II and 5 showed a Nistal score of III. The testis in the man showed diffuse tubular atrophy with tubular hyalinization, a Sertoli's cell nodule, vacuolized Leydig cells, peritubular hyalinization and small tubuli.Prader-Willi syndrome appears to be a heterogenic disorder with respect to testicular histology. Although most boys showed absent spermatogonia, 2 of 8 had normal testicular histology. Therefore, it is suggested that it is uncertain what the fertility outcome is in boys with Prader-Willi syndrome.

Pathological findings in two patients with Moebius syndrome and lethal fetal akinesia sequence are described. In both patients a congenital brain stem malformation with neuronal loss in the cranial nerve nuclei and tegmental microcalcifications was observed. In one patient, the association with splenogonadal fusion was observed, whilst in the second patient, the association with tetraperomelia was present. As the association of peromelia and splenogonadal fusion is a well-known association, the different combination of splenogonadal fusion, peromelia and Moebius syndrome due to congenital brain stem anomalies with necrosis might be the result of a disruptive phenomenon during a prolonged vulnerable critical period in the 5th and 6th week of embryonic life. The finding of olivary dysplasia in one case, reminiscent of olivary dysplasia in Zellweger syndrome and in Miller Dieker syndrome, might suggest a primary malformation underlying Moebius syndrome due to brain stem defects.

This report concerns the concurrence in a male infant of Meckel syndrome (Dysencephalia splanchnocystica) and M-anisosplenia. a rare variant of the Ivemark asplenia syndrome. Because of one previous report of this combination, we assume a possible etiologic relationship.

We describe here a female infant, exhibiting lethal short-limbed dwarfism. The condition superficially resembled achondrogenesis. However, unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non-skeletal anomalies, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations. The chondroosseous morphology was nonspecific. The case is believed to be unique. It is therefore suggested that this constellation of anomalies constitutes a "new" lethal syndrome, different from the delineated chondrodysplasias.

Objectives To describe the clinical and ultrasound characteristics of granulosa cell tumors (GCTs) of the ovary, and to define the ultrasound appearance of GCTs based on pattern recognition. Methods Databases of four gynecological ultrasound centers were searched to identify patients with histologically proven GCTs who had undergone a standard preoperative ultrasound examination. Results A total of 23 women with confirmed GCT were identified. Twelve (52%) women were postmenopausal, nine (39%) were of fertile age and two (9%) were prepubertal. Clinical symptoms were abdominal distension (7/23, 30%), pain (5/23, 22%) and irregular vaginal bleeding (6/23, 26%). Seven patients (30%) were asymptomatic. Endometrial pathology was found in 54% (7/13) of the patients from whom endometrial biopsies were taken. On ultrasound scan 12/23 (52%) masses were multilocular-solid, 9/23 (39%) were purely solid, one mass (4%) was unilocular-solid and one mass was multilocular (4%). Multilocular and multilocular-solid cysts typically contained large numbers of small locules (> 10). The echogenicity of the cyst content was most often mixed (6/16, 38%) or low level (7/16, 44%). Papillary projections were found in only four women (17%). The GCTs were large tumors with a median largest diameter of 102 (range, 37-242) mm and manifested moderate or high color content at color Doppler examination (color score 3 in 13/23 tumors (57%); color score 4 in 8/23 tumors (35%)). Conclusions At ultrasound examination, most GCTs are large multilocular-solid masses with a large number of locules, or solid tumors with heterogeneous echogenicity of the solid tissue. Hemorrhagic components are common and increased vascularity is demonstrated at color/power Doppler ultrasound examination. The hyperestrogenic state that is created by the tumor often causes endometrial pathology with bleeding problems as a typical associated symptom. (Less)

Vulvar ulcers are often misdiagnosed and mistreated as herpetic ulcers. This article describes two other vulvar ulcerous diseases, Behcet’s disease and Lipschutz ulcus, to show the importance of a careful clinical examination and diagnostic testing.

ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

A case of pleuropulmonary blastoma (childhood variant of pulmonary blastoma) was examined using histological, immunohistochemical, ultrastructural and cytogenetic methods. The tumour consisted of undifferentiated 'blastematous' areas admixed with zones of rhabdomyoblastic and chondroid differentiation and fascicular areas. Desmin and S-100 protein immunoreactivity confirmed the myogenic and cartilaginous differentiation. Ultrastructurally only undifferentiated mesenchymal cells were present. The cytogenetic analysis revealed abnormalities of 2q. Involvement of 2q has also been described in hepatoblastoma and embryonal rhabdomyosarcoma. Although further confirmation is needed, our cytogenetic findings in pleuropulmonary blastoma suggest common genetic mechanisms in some paediatric embryonal malignancies.

Objective To evaluate the clinical and sonographic features in patients with endometrial malignancy in whom endometrial thickness on ultrasound examination had been recorded in our database to be < 5 mm. Methods This was a retrospective observational study on 187 consecutive patients diagnosed with endometrial malignancy in whom an ultrasound evaluation of the endometrium had been performed in our institution. The characteristics of those patients presenting with an endometrial thickness < 5 mm were analyzed. Results The median endometrial thickness was 15 mm: 12 mm for the women who underwent endometrial sampling before ultrasound examination vs. 17 mm in those who did not (P = 0.0086). In 13 women (6.9%), the endometrial thickness recorded in our database was < 5 mm. In 12 of these the measurment was compromised in some way: nine of these patients had undergone endometrial sampling (Pipelle biopsy in one and dilatation and curettage in eight patients) before the ultrasound examination, in two cases, focal malignant lesions were not included in the recorded endometrial thickness and in one, the endometrial thickness was visualized poorly due to myometrial distortion. In only one case was was the endometrium correctly measured to be < 5 mm; this woman had diffuse uterine and endometrial metastases of a breast cancer. Conclusions A thin and regular endometrial line is very reliable for the exclusion of endometrial carcinoma. The suspicion of focal lesions as well as incomplete visualization of the endometrium on sonography should be considered abnormal. Recently performed endometrial sampling makes measurement of the endometrial thickness unreliable. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd.

The objective of this study is to assess the therapeutic importance of surgical castration, adjuvant hormonal treatment and lymphadenectomy in endometrial stromal sarcoma (ESS). A retrospective and multicentric search was performed. Clinicopathologic data were retrieved from cases that were confirmed to be ESS after central pathology review. The protocol was approved by the Ethical Committee. ESS was confirmed histopathologically in 34 women, but follow-up data were available in only 31 women. Surgical treatment (n=31) included hysterectomy with or without bilateral salpingo-oophorectomy (BSO) in 23 out of 31 (74%) and 8 out of 31 (26%) cases, respectively. Debulking surgery was performed in 6 out of 31 cases (19%). Stage distribution was as follows: 22 stage I, 4 stage III and 5 stage IV. Women with stage I disease recurred in 4 out of 22 (18%) cases. Among stage I women undergoing hormonal treatment with or without BSO, 3 out of 15 (20%) and 1 out of 7 (14%) relapsed, respectively. Among stages III-IV women receiving adjuvant hormonal treatment or not, 1 out of 5 (20%) and 3 out of 4 (75%) relapsed, respectively (differences=55.0%, 95% CI=-6.8-81.2%). Kaplan-Meier curves show comparable recurrence rates for stage I disease without adjuvant hormonal treatment when compared to stages III-IV disease treated with surgery and adjuvant hormonal treatment. Furthermore, women taking hormones at diagnosis have a better outcome when compared to women not taking hormonal treatment. Three out of 31 (9%) patients had a systematic lymphadenectomy whereas 3 out of 31 (9%) had a lymph node sampling. In one case, obvious nodal disease was encountered at presentation. Isolated retroperitoneal recurrence occurred in 1 out of 31 (3%) of all cases and in 1 out of 8 (13%) recurrences. This single woman later also developed lung and abdominal metastases. Leaving lymph nodes in situ does not appear to alter the clinical outcome of ESS. Although numbers are low, the retrospective data suggest that the need for surgical castration (BSO) in premenopausal women with early-stage disease should be discussed with the patient on an individual basis. The data support the current practice in some centres to administer adjuvant hormonal treatment.

Background Standard treatment of cervical cancer FIGO stage IB1 is a radical hysterectomy with pelvic lymphadenectomy. As the number of patients with a preserved fertility wish has increased, the need for fertility sparing surgery emerges. In this study we discuss 11 patients with cervical carcinoma stage IB treated with neoadjuvant chemotherapy followed by large cone resection. Methods In this retrospective study we included 10 patients with FIGO stage IB1 and 1 patient with IB2 cervical cancer, who first received a pelvic lymphadenectomy followed by neoadjuvant chemotherapy and conization. Paclitaxel–ifosfamide–carboplatin or a combination of paclitaxel–carboplatin was used as neoadjuvant chemotherapy. Results Complete response after chemotherapy was observed in 64%, partial response in 27% and 9% had progressive disease. All patients with response underwent a conization, with no residual disease on pathology in 80%. Patients with residual disease were treated by radical hysterectomy. In 9 patients fertility sparing surgery could be performed and 6 (67%) got pregnant. Five patients had 7 children and two patients had four missed abortions. Two premature deliveries at 32 and 33weeks were described, both in the same patient. Recurrence was observed in one patient that was treated with simple hysterectomy followed by radiochemotherapy. Median follow up time is 58months with all patients alive and no evidence of disease until now. Conclusions Neoadjuvant chemotherapy followed by conization seems to be a promising new fertility sparing treatment modality in patients with cervical carcinoma stage IB1, but further studies with larger populations should confirm these data.

Mesonephric carcinomas of the female genital tract are rare tumors, mainly occurring in the cervix and exceptionally in the uterine corpus. There seems to be a paradigm that the only mesonephric neoplasms arising from the upper zone of the Wolffian system are FATWOs. Indeed, no cases of mesonephric carcinoma of the ovary have been reported in the recent literature. Herein, we describe two cases of ovarian carcinoma with histologic features consistent with mesonephric adenocarcinoma. In both cases, the initial diagnosis of well-differentiated endometrioid adenocarcinoma was withdrawn because of other coexistent growth patterns, and the presence of admixed mesonephric-type structures. The mesonephric identity of the tumors was supported immunohistochemically, in particular by their uniform negativity for ER and PR, and strong reactivity for CD10.

Importance Noninvasive prenatal testing (NIPT) for fetal aneuploidy by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a major prenatal genetic test. Similar to placental DNA, tumor DNA can be detected in the plasma, and analysis of cell-free tumor DNA can be used to characterize and monitor cancers. We show that plasma DNA profiling allows for presymptomatic detection of tumors in pregnant women undergoing routine NIPT. Observations During NIPT in over 4000 prospective pregnancies by parallel sequencing of maternal plasma cell-free DNA, 3 aberrant genome representation (GR) profiles were observed that could not be attributed to the maternal or fetal genomic constitution. A maternal cancer was suspected, and those 3 patients were referred for whole-body diffusion-weighted magnetic resonance imaging, which uncovered an ovarian carcinoma, a follicular lymphoma, and a Hodgkin lymphoma, each confirmed by subsequent pathologic and genetic investigations. The copy number variations in the subsequent tumor biopsies were concordant with the NIPT plasma GR profiles. Conclusions and Relevance We show that maternal plasma cell-free DNA sequencing for noninvasive prenatal testing also may enable accurate presymptomatic detection of maternal tumors and treatment during pregnancy.

Serous endometrial carcinoma (SEC) is an uncommon variant of endometrial carcinoma that is notorious for its aggressive clinical course. Similar to its ovarian counterpart, it has a propensity for early intraabdominal and lymphatic spread. We present two cases of advanced SEC, who were left with no residual tumor after neoadjuvant chemotherapy. After three courses of chemotherapy, both patients underwent interval debulking surgery, resulting in no residual disease. The documentation of chemosensitivity might enable the clinician to select a subpopulation of patients with widespread SEC that might benefit from interval debulking surgery.

It has generally been accepted that pseudomyxoma peritonei/disseminated peritoneal adenomucinosis originates from appendiceal low-grade adenomatous mucinous tumors. A woman who underwent an appendectomy 42 years ago, presented with a unilateral ovarian tumor whose immunohistochemical phenotype and its association with a teratoma, strongly suggest that pseudomyxoma peritonei originated from a ruptured mucinous tumour arising from a mature cystic teratoma.

Objective: To describe the magnetic resonance imaging findings of an antenatal intracranial venous thrombosis. Methods: Prenatal ultrasound (US) at 22 weeks’ gestational age (GA) in a 27-year-old patient (G2 P1) revealed a nonspecific avascular echogenic mass above the cerebellum evaluated with MRI at 23 weeks’ GA. Results: With MRI an enlarged occipital pericerebral space with a layered ovoid mass at the torcular herophili was demonstrated and MRI characteristics suggested a subacute cloth. In follow-up, an important enlargement of the mass was noticed on US examinations. After multidisciplinary consult and parental consent, a prostaglandin induction was performed at 25 weeks’ GA. The baby died immediately after birth. Pathology confirmed the diagnosis of a venous thrombosis at the torcular herophili with extension into the superior sagittal sinus. Conclusion: In our case, MRI findings were helpful in diagnosing an intracranial fetal venous thrombosis.

The aims of the study were (1) to increase the limited knowledge on molecular markers contributing to uterine leiomyosarcoma (LMS) tumorigenesis and (2) to test the ability to predict the clinical course of smooth muscle tumors of low malignancy (SMTLM). Retrospectively, 2,360 uterine smooth muscle tumors were classified according to the Stanford criteria. After central review, the clinical course of the SMTLM was traced, and immunohistochemical stainings for p53, p16, p21, Rb, estrogen receptor, progesterone receptor (PR), cyclin A, cyclin D1, vascular endothelial growth factor, WT-1, and Ki-67 were performed on paraffin-embedded tissue of the primary tumor and recurrences. On the same tissues, fluorescence in situ hybridization (FISH) analysis was performed to determine differences in HMGA2, p53, Rb, and 1p36 loci involvement. Five SMTLM were identified, of which two relapsed after 2 and 3 years, respectively. Recurrence tumors were surgically resected, and 3 years later, both patients are alive and there is no evidence for progression of disease. The age at diagnosis in the group with benign course was lower (39, 40, 43 years) than that in the group that recurred (48, 53 years). Both recurrent SMTLMs expressed less PR and, only quantitatively, more p53. One case expressed more cyclin D1 when compared to its primary. p16 level was reduced in one recurrent SMTLM. FISH of both SMTLMs that recurred revealed homozygous deletion of p53 and Rb loci in one of each primary and recurrent tumor. Loss of 1p36 loci was found in both recurrent SMTLMs, and in one case, this genetic imbalance was already present in the primary tumor. The current data provide evidence that the age at diagnosis of SMTLM is a prognostic factor and that LMS originating from SMTLM carries an overall better prognosis than primary LMS. Recurrent tumors showed decreased PR levels. Accumulation of genetic losses, including p53, Rb, and 1p36 loci, may identify a subgroup of SMTLMs with a higher potential towards malignancy.

Background. The low incidence of ovarian adenosarcomas explains the paucity of available data regarding their biologic markers. Our aim was to investigate the presence of CD10, estrogen and progesterone receptors (ER and PR) in these tumors. Case. Four cases of primary ovarian adenosarcoma were retrieved in our pathology databases. We assessed the immunohistochemical stainings for ER, PR and CD10 in 3 ovarian adenosarcomas without sarcomatous overgrowth (OAS), and 1 ovarian adenosarcoma with sarcomatous overgrowth (OAS-S). When considering the malignant stromal component, 2 OAS showed the presence of ER and PR, whereas the OAS-S was only ER positive. CD10 positivity was observed in the sarcomatous cells of all 3 OAS but was absent in the OAS-S. Conclusion. The identification of a hormone sensitive disease is the main clinical implication of this study. Moreover, the current results add OAS to the list of CD10 positive ovarian tumors.

OBJECTIVE: The endometrial origin of uterine carcinosarcoma has recently been well established. The current study investigates whether uterine carcinosarcomas can be included in protocols on high-risk endometrial cancer, given the similarities in biologic behavior of both entities. METHODS: Pathological and surgical notes of patients diagnosed with grade 3 endometrioid, carcinosarcoma, serous and clear cell endometrial cancer subtypes were retrospectively analyzed with special attention to the spread pattern of the different subtypes. Information on site of relapse and time to recurrence was obtained. RESULTS: We traced 146 patients of which 9 patients were ineligible. Histological subtypes of the remaining 137 patients were as follows: 50 (37%) grade 3 endometrioid carcinoma, 54 (39%) serous or clear cell carcinoma (non-endometrioid carcinoma), and 33 (24%) carcinosarcomas. Distribution of early stage disease (I and II) was 67, 46, and 78% for grade 3 endometrioid, non-endometrioid, and carcinosarcoma, respectively. Although we could not trace differences in hematogenic and transperitoneal spread among the three subtypes, non-endometrioid and carcinosarcomas were more likely to spread to pelvic and paraaortic lymph nodes (P

Objectives Hypophosphatasia is a rare heritable inborn error of metabolism characterized by a liver/bone/kidney alkaline phosphatase defective bone mineralization due to mutations in the tissue-non-specific alkaline phosphatase (TNS-ALP) gene. To date 128 mutations are described in the TNS-ALP gene located on the short arm of chromosome 1. The clinical presentation of hypophosphatasia is variable ranging from early onset lethal short-limb dwarfism to a late-onset presentation with fractures in childhood or adulthood. Methods We report a pregnancy with a positive maternal serum triple test screening and a post-mortem pathological and molecular diagnosis of perinatal lethal hypophosphatasia. Results Two heterogeneous missense mutations in the TNS-ALP gene were found, of which one was not previously described. Conclusion This case report adds to the list of fetal malformations found after positive maternal serum triple test screening and reports a previously undescribed mutation in the TNS-ALP gene responsible for hypophosphatasia. Copyright © 2004 John Wiley & Sons, Ltd.

Background . Given the paucity of data regarding hormone dependency, it was the purpose of this study to screen for the presence of estrogen and progesterone receptors in uterine adenosarcoma (UAS). Methods . One hundred and five centers were asked to screen their files for uterine adenosarcomas. A immunohistochemical estrogen and progesterone receptor determination was performed. Results . Twenty-eight primary UAS were stained, including one cervical adenosarcoma. Sarcomatous overgrowth could be observed in eight. Furthermore, two cases of recurrent UAS, one only consisting of endometrial stromal sarcoma, were stained. UAS lacking sarcomatous overgrowth showed estrogen receptor positivity in 17/20 (85%) and 16/20 (80%) in the epithelial and sarcomatous component, respectively. Progesterone positivity was observed in 13/20 (65%) and 12/20 (60%) in the epithelial and sarcomatous component, respectively. In 18/20 (90%) of the cases, either the estrogen or the progesterone receptor stained positive in the sarcomatous component. UAS with sarcomatous overgrowth showed estrogen receptor positivity in 4/8 (50%) and 0/8 (0%) in the epithelial and sarcomatous component, respectively. Progesterone positivity was observed in 2/8 (25%) and 1/8 (12%) in the epithelial and sarcomatous component, respectively. The stromal component of both recurrent cases stained moderately positive for estrogen receptor whereas progesterone receptor was considered negative. Conclusion . The observation that the sarcomatous component of UAS without sarcomatous overgrowth frequently expresses hormone receptors might be of significant clinical importance.

A 49-year-old male was admitted for surgical resection of a solitary pulmonary metastasis. A mixed germ cell testis tumor (mature teratoma and seminoma) was diagnosed 1 year before and treated with orchidectomy and adjuvant chemotherapy. Surgical resection of regional retroperitoneal disease

Objective Unenhanced transvaginal sonography is not accurate in the detection of endometrial polyps. Currently, second-stage tests such as saline contrast sonohysterography and office hysteroscopy are used to diagnose endometrial lesions, but both have limitations and side effects. We proposed visualization of the pedicle artery on color Doppler imaging as a sign of polyps. Methods This was a prospective observational study involving 3099 consecutive patients referred for assessment of the endometrium and myometrium. The uterus was assessed in sagittal and coronal planes using color Doppler sonography. Patients with suspected endometrial pathology on sonography were noted and the volume of the focal lesion was calculated. Patients with a clearly visible pedicle artery reaching the central part of the endometrium were regarded as test-positive. The gold standard was defined as the presence or absence of an endometrial polyp at hysterectomy, hysteroscopy and/or endometrial histology on dilatation and curettage within 1 year of sonography. Results Of the 3099 women, no gold standard was available in 2230. Only 28 of the 199 patients who were test-positive did not have a gold standard. In the 869 patients in whom a gold standard was available, 182 had one or more endometrial polyps. The pedicle artery test had an apparent sensitivity for detection of endometrial polyps of 76.4%, specificity of 95.3%, positive predictive value (PPV) of 81.3%, and negative predictive value of 93.8%. When extending the test to the prediction of any focal intracavitary pathology the PPV was 94.2%. Conclusions The pedicle artery test has a very high PPV for intracavitary pathology. We expect that in the majority of patients with an endometrial polyp this test may replace more invasive established second-stage tests, such as saline contrast sonohysterography and office hysteroscopy. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

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. Conclusion 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.

The etiology of the fetal akinesia deformation sequence (FADS) is heterogeneous and can be the result of neurogenic and myopathic disorders, restrictive dermopathy, teratogen exposure, and intrauterine constraint. We present the prenatal and fetopathological findings in a consecutive series of 30 affected fetuses with normal chromosomal results. According to the in utero time of onset of the fetal akinesia, the severity of the phenotype varied from a severe, generalized FADS in the early-onset group to milder defects, as isolated distal arthrogryposis in the late-onset group. No more than 10% (3/30) were diagnosed in the first trimester of pregnancy and all presented a severe phenotype. Twenty-seven of the thirty (90%) were diagnosed after the first trimester, with a severe FADS in 15/27 and a milder phenotype of distal arthrogryposis in 12/27. In all 30 patients, extensive neuropathological studies (brain, spinal cord, and muscles) were performed. In 16 patients (53%) a specific diagnosis could be made (central nervous system abnormalities 9/16; spinal cord 1/16; primary myopathy 3/16; syndromic 3/16). In 10 others (33%), pathological neuromuscular findings were present but no definitive diagnosis was established. In 4 patients (13%), neuromuscular findings were normal, and the etiology of the FADS remained unexplained.

We studied the correlation between prenatal diagnosis and postmortem investigations in pregnancies terminated for renal malformations.Over a 5-year period, 77 cases of termination of pregnancy (TOP) for renal malformations were reviewed. Chromosomal anomalies (n = 9) and cases without conventional or virtual autopsy were excluded (n = 15). In 53 cases, prenatal ultrasound diagnosis and conventional autopsy findings were compared. In addition, we compared the accuracy of conventional and virtual autopsy findings in 17 cases.Full agreement was observed in 60.4% (32/53) of cases. In 26.4% (14/53) of the cases, the presence of additional malformations did not alter the final diagnosis. However, in 11.3% (6/53) the final diagnosis was adjusted because of major additional findings. One case showed a total disagreement. Conventional and virtual autopsy were in full agreement in 52.9% (9/17). Postmortem magnetic resonance imaging (MRI) description and detection of malformations was less complete and failed to correctly diagnose 5/17 cases (29.4%). In 17.6% (3/17) of the cases, postmortem MRI revealed malformations not confirmed by conventional autopsy.A high correlation between prenatal ultrasound and postmortem investigations was observed. Conventional autopsy remains the gold standard to reveal additional major and minor malformations, leading to a correct final diagnosis. The added value of virtual necropsy for renal pathology was limited.

Methods Fifty-one women suspected for recurrent ovarian cancer underwent 3-Tesla WB-DWI/MRI using 2 b-values (b=0-1000 s/mm2), T2and contrast T1-weighted sequences in addition to CT. WB-DWI/MRI and CT were compared for per-patient detection of recurrence, per-site detection of disease extent including peritoneal, serosal, retroperitoneal, periportal and distant metastases and for detecting disease extent according to institutional operability criteria. Imaging findings were correlated with surgical/pathological findings or imaging follow-up for at least 6 months.

BACKGROUND: FDG-PET/CT is part of the standard diagnostic management of a patients with a large variety of common and less common malignant tumors, based on the increased glucose metabolism within tumors. CASE PRESENTATION: A hybrid fluorodeoxyglucose positron emission tomography and computed tomography (FDG-PET/CT) was performed in a neurofibromatosis patient to rule out relapse of malignant peripheral nerve sheet tumor. The scan revealed non-malignant neurofibromas, a testis seminoma and hypermetabolic syphilitic granulomata. CONCLUSION: This case stresses the need to rule out infectious diseases when atypical hypermetabolic lesions are present. ispartof: BMC medical imaging vol:14 issue:1 ispartof: location:England status: published

Monochorionic (MC) twin pregnancies are at increased risk of adverse outcome because of the vascular anastomoses that connect the two fetal circulations. MC monoamniotic (MA) twins are at an even higher risk because of their almost universal cord entanglement and possible compression, which can cause an acute transfusion imbalance between the twins. Chorionicity and amnionicity should be determined during the first-trimester ultrasound examination to identify high-risk MC and MA twin pregnancies for which a fortnightly follow-up may improve outcome. Although this can be achieved readily by assessing and counting the membranes that separate the twins, some pitfalls may occur. We present our observations of two monozygotic twin pairs with an intermediate type of monodichorionic and monodiamniotic twin pregnancy. The first was recognized during the first-trimester scan and the second during the second-trimester scan. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Background Two siblings from consanguineous parents of Turkish descent presented with isolated dilated cardiomyopathy, leading to early death in infancy. The diagnosis of mitogenic cardiomyopathy was made histologically. Methods and results Linkage analysis combined with exome sequencing identified a homozygous deleterious mutation in the ALMS1 gene as the cause of this phenotype. Conclusions Alstrom syndrome is characterized by a typically transient dilating cardiomyopathy in infancy, suggesting that mitogenic cardiomyopathy represents the extreme phenotype, resulting in demise before the other clinical symptoms become evident. This observation further illustrates the role of ALMS1 and cell cycle regulation.

Objective. Platinum resistance remains an obstacle in the treatment of epithelial ovarian cancer (EOC). The goal of this study was to profile EOCs for somatic copy number alterations (SCNAs) as predictive markers of platinum response. Methods. SCNAs were assessed in a discovery (n = 86) and validation cohort (n = 115) of high risk stage I or stage II-IV EOCs using high-resolution SNP arrays. ASCAT and GISTIC identified all significantly overrepresented amplified or deleted chromosomal regions. Cox regression and univariate analysis assessed which SCNAs correlated with overall survival (OS), progression-free survival (PFS), platinum-free interval (PFI) and platinum response. Relevant SCNAs were also assessed in a pooled analysis involving both cohorts and published SCNA data from The Cancer Genome Atlas (TCGA; n = 227). Results. We identified 53 regions to be significantly overrepresented in EOC. Of these, 6 were associated with OS, PFS or PH in the discovery cohort at P

We will describe a case of a patient diagnosed with a rare identity of a benign lesion, "reactive nodular fibrous pseudotumor" (RNFP). It is a tumor which preoperatively can present as a malignant tumor and is only reported in 19 cases. According to the very limited amount of information on this tumor in the literature it is mostly seen after trauma or intraperitoneal inflammation. Our case is the second one of RNFP associated with endometriosis, which is a frequently seen intraperitoneal inflammation process in women. Knowledge that these large pseudotumoral lesions can occur is important to direct the management of these patients. ispartof: Case reports in obstetrics and gynecology vol:2014 pages:421234- ispartof: location:United States status: published

We report the second trimester prenatal echographic diagnosis of an epignathus teratoma in a female fetus with ring X chromosome mosaicism. The ring X chromosome mosaicism was present in the amniotic cell culture and in the teratoma and the ring X was inactive (X-inactive specific transcript (XIST) locus expressed). Hypoplastic left heart with valvular aortic stenosis and non-immune hydrops were additional findings, and are well-documented in Turner syndrome. The occurrence of epignathus teratoma in Turner syndrome has not been documented sofar.

The ternary complex factors (TCFs) Net, Elk-1 and Sap-1 regulate immediate early genes through serum response elements (SREs) in vitro, but, surprisingly, their in vivo roles are unknown. Net is a repressor that is expressed in sites of vasculogenesis during mouse development. We have made gene-targeted mice that express a hypomorphic mutant of Net, Net delta, which lacks the Ets DNA-binding domain. Strikingly, homozygous mutant mice develop a vascular defect and up-regulate an immediate early gene implicated in vascular disease, egr-1. They die after birth due to respiratory failure, resulting from the accumulation of chyle in the thoracic cage (chylothorax). The mice have dilated lymphatic vessels (lymphangiectasis) as early as E16.5. Interestingly, they express more egr-1 in heart and pulmonary arteries at E18.5. Net negatively regulates the egr-1 promoter and binds specifically to SRE-5. Egr-1 has been associated with pathologies involving vascular stenosis (e.g. atherosclerosis), and here egr-1 dysfunction could possibly be associated with obstructions that ultimately affect the lymphatics. These results show that Net is involved in vascular biology and egr-1 regulation in vivo.

Summary: A 65-year-old black woman was found to have a 3.0 cm endometrial tumor that was a carcinosarcoma with a major epithelial and a less prominent mesenchymal component. The latter was undifferentiated but one focus of chondroid differentiation was noted. The former showed papillary serous differentiation. Melanin pigment was observed in both epithelial and mesenchymal components. Staining with antisera to S100 protein and HMB-45 confirmed the presence of melanocytes. An endocervical focus of tumor also contained melanin. Electron-microscopic studies showed large tumor cells with an irregularly indented nucleus and abnormal giant cytoplasmic melanosomes. Only one case of uterine carcinosarcoma with melanocytic differentiation has been previously reported.

Objective: Modern large single institutional reports on pulmonary sequestration (PS) are extremely rare. We were interested in comparing patients with PS referred by our pediatric versus adult pulmonologists. Methods: Hospital notes of all patients operated on between 1978 and 1997 for a congenital broncho-pulmonary malformation were reviewed. In 28 patients, the parenchymal lesion was vascularized by a systemic artery and was separated from the bronchial tree, thus matching the strict definition of PS. Patient characteristics and outcome were analyzed comparing the pediatric group (#16 years: na 13; mean age, 3 ^ 5 years) versus the adult group (.16 years: na 15; mean age, 33 ^ 13 years). Results: No significant differences between both groups were observed in sex, side, type of sequestration, pulmonary venous drainage, associated anomalies, hospital and late outcome, and patient’s overall score. Patients (na 21) with the intralobar type of sequestration presented significantly more often with an infection when compared with patients (na 7) with the extralobar type (91 versus 14%; Pa 0:0033). When compared with the pediatric group, patients in the adult group had significantly more respiratory infections (87 versus 38%; Pa 0:016), and also required a lobectomy more often (67 versus 31%; Pa 0:056). Conclusions: The extralobar type of sequestration often remains asymptomatic, and is usually an incidental finding during infancy. The intralobar type mostly presents with recurrent infections in adulthood resulting in more lobectomies. We believe these findings support our current policy to remove any pulmonary malformation whenever diagnosed in order to: (1), prevent infection and other potentially serious late complications which may compromise the surgical outcome; and (2), enhance the chance of a parenchymal-sparing resection. q 2001 Elsevier Science B.V. All rights reserved.

Aneurysm of the ductus arteriosus is a rare abnormality for which different ways of pathogenesis are described. We report the case of a fatal thrombosis of an aneurysm of the ductus arteriosus in an infant presenting feeding difficulties and a mild dysmorphic facies. Karyotype analysis revealed a de novo chromosomal deletion 46,XY, del (13)(q12.3,q22.3). To the best of our knowledge, this is the first case of an aneurysm of the ductus arteriosus associated with a chromosomal aberration.

A 67-year-old man presented with weight loss, intermittent severe abdominal pain and melaena. Initial radiology (including abdominal ultrasonography), gastroscopy and colonoscopy did not demonstrate any lesions that could explain the complaints. Three weeks later, upper gastrointestinal and small-bowel barium studies revealed two areas in the small intestine with an abnormal mucosal pattern. Explorative laparotomy revealed three tumoral lesions. Three partial enterectomies were performed. Gross examination showed centrally depressed dark reddish tumoral lesions extending from the mucosa throughout the full thickness of the bowel wall (diameter varying between 1.6 cm and 2.2 cm). The tumours, composed of large, plump, polygonal cells showing little architectural differentiation, were mainly situated in submucosa and muscularis propria. The growth pattern appeared rather solid. The epithelioid cells showed pronounced nuclear pleomorphism and atypia with central large nucleoli. There were several small blood vessels with occasional anaplastic endothelial cells. Immunohistochemical staining demonstrated an intense expression of CD 31, CD 34, factor VIII related antigen and keratin. This supported the diagnosis of an epithelioid angiosarcoma. The patient died 3 months after diagnosis. Tumours of the small intestine are very rare, and angiosarcomas of the small intestine are even more rare. Epithelioid variants have only been described in two patients and only one of these had a multifocal presentation. The prognosis is very poor. Because of the epithelioid growth pattern and the cytokeratin expression, these tumours may erroneously be diagnosed as a carcinoma.