Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21 in order to eliminate the effects of the variability of genomic background. The alterations observed by genetic analysis at the iPSC level and at first approximation in early development illustrate the developmental disease transcriptional signature of Down syndrome.

Importance and determinants of Gleason score undergrading on biopsy sample of prostate cancer in a population-based study.

Background: In this population-based study, we investigated the degree of concordance between Gleason scores obtained from prostate biopsies and those obtained from prostatectomy specimens, as well as the determinants of biopsy understaging.

Methods: We considered for this study all 371 prostate cancer patients recorded at the Geneva Cancer Registry diagnosed from 2004 to 2006 who underwent a radical prostatectomy. We used the kappa statistic to evaluate the Gleason score concordance from biopsy and prostatectomy specimens.

A pelvic mass on ultrasonography and high human chorionic gonadotropin level: not always an ectopic pregnancy.

A 24-year-old patient with 7-week amenorrhoea consulted for vaginal bleeding without abdominal pain. Ultrasonography revealed a 7 × 4 cm solid right pelvic mass. There was no visible intrauterine gestational sac.

Plasmablastic lymphoma clinically presenting in the urinary tract.

Plasmablastic lymphoma is a high-grade B-cell lymphoma that poses major diagnostic problems and carries an extremely poor prognosis. This tumor was first described in the oral cavity of HIV+ patients but has since been identified in other sites and in seronegative patients. We describe 2 cases of plasmablastic lymphoma of the urinary tract that both presented with hydronephrosis.

Frozen section in axillary sentinel lymph nodes for diagnosis of breast cancer micrometastasis.

Background: Sentinel lymph node (SLN) biopsy plays a major role in the surgical management of primary breast cancer. The aim of this study was to assess the diagnostic accuracy of the assessment of axillary frozen sections of SLNs for micrometastasis diagnosis.

Patients And Methods: This study focused on 278 SLNs from 149 patients.

Young patients with endometrial cancer: how many could be eligible for fertility-sparing treatment?

Objectives: To assess the characteristics of young women with endometrial carcinoma, and evaluate those potentially eligible for conservative therapy.

Methods: We identified women diagnosed with endometrial cancer between 1970 and 2005 at the population-based Geneva Cancer Registry (n=1365). We classified patients into two age groups (< or =45 and >45 years old).

Diagnosis of vulvar lesions by non-invasive optical analysis: a pilot study.

A procedure that could allow an early in vivo and non-invasive detection of vulvar lesions would be extremely useful. We tested an innovative optical method (Optiprobe), which uses a harmless, visible light source for the in vivo, on-line detection of minimal alterations in the structure of vulvar epithelium. A group of 3 female volunteers without gynecological symptoms were first screened to evaluate optical properties of normal vulvar tissue.

Primary breast lymphomas.

The diagnosis, prognostic factors, and optimal management of primary breast lymphomas (PBL) is difficult. Seven patients recorded at the Geneva Cancer Registry between 1973-1998 were reviewed. Five patient had diffuse large B-cell lymphoma, one a follicular lymphoma and one a MALT-lymphoma.

Magnetic resonance imaging to identify risk of lymph node metastasis in patients with endometrial cancer.

Objective: To assess the value of magnetic resonance imaging (MRI) to identify endometrial cancer patients at risk of lymph node metastasis.

Methods: Retrospective review of data from 108 patients with clinical stage I endometrial cancer who underwent preoperative MRI and were treated surgically. Patients at risk of lymph node metastasis were defined as those who had more than 50% myometrial infiltration or cervical invasion.

Derivation of the first Swiss human embryonic stem cell line from a single blastomere of an arrested four-cell stage embryo.

Principles: Human embryonic stem cells (hESC) hold enormous potential for regenerative medicine. So far, the majority of hESC lines have been derived from the isolated inner cell mass (ICM) of blastocysts of variable quality, and several of them from low-grade embryos. Moreover, most of the lines have been obtained in media containing animal components such as foetal bovine serum.

Increased risk of second cancer among patients with ovarian borderline tumors.

Objectives: Several studies have demonstrated a higher risk of colorectal and breast cancers subsequent to invasive ovarian cancer. Such risk has not been investigated for ovarian borderline tumors. We aim to evaluate the risk of subsequent cancer occurrence among patients with borderline ovarian tumors in a population-based setting.

Reclassification and analysis of clinical significance of atypical glandular cells on ThinPrep using Bethesda 2001: Geneva experience.

Background: The category "atypical glandular cells" (AGC) in The Bethesda System (TBS) 2001 represents equivocal glandular atypia. The objective was to determine the clinical significance of diagnosing AGC using new TBS 2001 on Thin-Prep. There is scant information on the diagnosis of AGC and its outcome on ThinPrep using TBS 2001.

Histopathological study of breast cancer and normal breast tissue after magnetic resonance-guided cryotherapy ablation.

Background: Cryotherapy ablation is a minimally invasive procedure being investigated as an alternative to conventional surgery. There are few reports in breast cancer.

Aim: Evaluate the histopathology of tumoral and normal breast tissue after cryotherapy.

Urothelial carcinoma "nested variant" of renal pelvis and ureter.

The nested variant of urothelial carcinoma is a rare type of urothelial invasive carcinoma. It is characterized by islands of discrete to moderate atypical urothelial cells that strongly simulate von Brunn nests and invade to the lamina propria or deeper. Almost all described cases have been located in the bladder.

[The therapeutic dilemma of the early invasive bladder cancer].

Transitional tumours of the bladder are classically divided in superficial (lesions of the mucosa and the submucosa) and invasive (infiltrating the detrusor) cancers. However, the recurrence and progression rate of submucosal urothelial cancers is highly variable. Therefore, management of such neoplasias is very challenging, some patients requiring a cystectomy, whereas others can be managed less invasively with endoscopic resection eventually associated with intravesical chemotherapy.

Aberrant expression of BARD1 in breast and ovarian cancers with poor prognosis.

Mutations in tumor-suppressor gene BARD1 have been found in inherited and spontaneous breast, ovarian and uterine cancers. BARD1 plays a critical role in DNA repair and ubiquitination as binding partner of BRCA1, with which it colocalizes to nuclear dots. Independently of BRCA1, BARD1 can induce p53-dependent apoptosis in response to genotoxic stress.

Indeterminate ovarian mass at US: incremental value of second imaging test for characterization--meta-analysis and Bayesian analysis.

Purpose: To compare value of current diagnostic strategies in assessment of changes in posttest probability of ovarian cancer when menopausal status and combination and sequence of diagnostic imaging tests are considered.

Materials And Methods: Prevalence of ovarian cancer according to menopausal status in women with an ovarian mass and performance of combined gray-scale and Doppler ultrasonography (US), computed tomography (CT), and non-enhanced magnetic resonance (MR) imaging and contrast material-enhanced MR imaging after indeterminate results at gray-scale US were derived from meta-analysis by using MEDLINE database and institutional data. Study was approved by the institutional review board of University Hospital Geneva, Geneva, Switzerland; informed consent was waived.

Paget disease of the breast: findings at magnetic resonance imaging and histopathologic correlation.

Objectives: The purpose of this article is to describe magnetic resonance imaging (MRI) findings in patients with Paget disease of the breast and to evaluate mammography and MRI of the breast in the diagnosis of associated breast cancer.

Materials And Methods: Nine patients with biopsy-proven Paget disease of the nipple underwent preoperative mammography and MRI of the breast to evaluate underlying breast cancer. All patients underwent subsequent surgery.

Time-dependent hexaminolaevulinate induced protoporphyrin IX distribution after topical application in patients with cervical intraepithelial neoplasia: A fluorescence microscopy study.

Background And Objectives: Compared to the conventional management of cervical intraepithelial neoplasia (CIN) the potential advantage of photodynamic therapy (PDT) for the treatment of cervical human papilloma virus (HPV)-related disease encompasses a minimal invasive procedure with reduced risk of profuse bleeding as a consequence of conization, and possibly more favorable long-term results avoiding cervical stenosis. At present little is known about the precise time-dependent distribution and histological localization of hexaminolaevulinate (HAL) induced protoporphyrin IX (PPIX) fluorescence in healthy tissue and in CIN. The aim of this study was to use ex vivo fluorescence microscopy to determine whether PPIX is selectively induced by neoplastic cells of the cervical epithelium at various times after topical application.

Pro-opiomelanocortin expression in a metastatic breast carcinoma with ectopic ACTH secretion.

Cushing's syndrome secondary to ectopic adrenocorticotropic hormone (ACTH) secretion is rarely observed in breast carcinoma and only four cases have been previously published. We report here the case of a 50-year-old woman who presented with a history of diffuse bone pain associated with multiple hepatic, pulmonary, and bone metastases. A core needle biopsy specimen revealed an invasive ductal carcinoma in the right breast.

Arachidonyl ethanolamide induces apoptosis of uterine cervix cancer cells via aberrantly expressed vanilloid receptor-1.

Objectives: Delta(9)-Tetrahydrocannabinol, the active agent of Cannabis sativa, exhibits well-documented antitumor properties, but little is known about the possible effects mediated by endogenous cannabinoids on human tumors. In the present study, we analyzed the effect of arachidonyl ethanolamide (AEA) on cervical carcinoma (CxCa) cell lines.

Methods: To assess the sensitivity of CxCa cells to AEA, we selected three cell lines that were exposed to increasing doses of AEA with or without antagonists to receptors to AEA.

[Optical diagnosis of cervical dysplasia].

Cervix cancer is a curable disease when diagnosed at an early stage. Screening of cervical lesions by cytology and colposcopy with in situ staining has allowed for substantial progress in early diagnosis and consequently the cure of cervix cancer. Nevertheless, because of its low specificity, this approach generally implies repetitive tissue sampling and, thus a relative long time before the treatment of the lesions.

Important increase of invasive lobular breast cancer incidence in Geneva, Switzerland.

A recent paper from the United States reported a sharp and unexplained increase in invasive lobular breast cancer incidence since 1977 (Li et al., Cancer 2000;88:2561-9). We investigated if this trend was also present in Geneva, Switzerland, where breast cancer incidence is one of the highest in Europe.