This review summarises the knowledge of recurrent diploid biparental hydatidiform mole, which is a rare genetic condition. Pathogenic variants in both alleles of NLRP7 or KHDC3L are associated with maternal imprinting defects and can cause the condition. Women with biallelic inactivation of NLRP7 can achieve a normal pregnancy by oocyte donation, and it is highly likely, that this applies to women with biallelic inactivation of KHDCL3 as well.
View Article and Find Full Text PDFBackground: The underlying cause of epithelial ovarian cancer (EOC) is unknown. It has been theorized that infectious agents could contribute to ovarian tumorigenesis.
Objective: To investigate the potential role of oncogenic viral infection in EOC, we examined the prevalence of Epstein-Barr Virus (EBV) DNA and cytomegalovirus (CMV) DNA in EOC tissue samples.
Primary neuroendocrine tumors of the fallopian tube are extremely rare with a few reported cases of high-grade neuroendocrine carcinoma and a single report of a carcinoid tumor arising in a teratoma. We report 4 cases of probable primary neuroendocrine tumors of the fallopian tube (2 carcinoid tumors/low-grade neuroendocrine tumors and 2 high-grade neuroendocrine carcinomas) in patients aged 49 to 71. These represent the first reported cases of primary tubal carcinoid tumor unassociated with a teratoma.
View Article and Find Full Text PDFGrading and histologic typing of endometrial cancer in biopsy material has a direct impact on the decision to perform lymphadenectomy and/or omentectomy in many cancer centers. Endometrial biopsies are among the most common general surgical pathology specimens. Multiple studies have shown that biopsy diagnosis suffers from a lack of reproducibility.
View Article and Find Full Text PDFUgeskr Laeger
September 2014
Clear cell adenocarcinoma of the uterine cervix (CCEA) is a rare disease, accounting for only 1% of all cervical cancers. The disease in young women is linked to diethylstilbestrol (DES) exposure in utero. Following the ban of DES in 1979, CCEA rarely occurs in young women, but still remains a challenge in diagnosis and fertility preservation.
View Article and Find Full Text PDFActa Obstet Gynecol Scand
March 2014
Objective: To identify the extent of lymphadenectomy performed in women presenting with epithelial ovarian cancer macroscopically confined to the ovary. Furthermore, the effect of lymphadenectomy on overall survival is evaluated.
Design: A prospective nationwide case-only study.
Aims: To assess the variation in ovarian carcinoma type diagnosis among gynaecological pathologists from Nordic countries, and whether a rationally designed panel of immunohistochemical markers could improve diagnostic reproducibility.
Methods And Results: Eight pathologists from four countries (Sweden, Denmark, Norway, and Finland) received an educational lecture on the diagnosis of ovarian carcinoma type. All tumour-containing slides from 54 ovarian carcinoma cases were independently reviewed by the participants, who: (i) determined type purely on the basis of histology; (ii) indicated whether they would apply immunohistochemistry in their routine practice; and (iii) determined type after reviewing the staining results.
Human papillomavirus (HPV) infection, and in particularly infection with HPVs 16 and 18, is a central carcinogenic factor in the uterine cervix. We established and optimized a PCR assay for the detection and discrimination of HPV types 16 and 18 in archival formaldehyde fixed and paraffin embedded (FFPE) sections of cervical cancer.Tissue blocks from 35 cases of in situ or invasive cervical squamous cell carcinoma and surrogate FFPE sections containing the cell lines HeLa and SiHa were tested for HPV 16 and HPV18 by conventional PCR using type specific primers, and for the housekeeping gene beta-actin.
View Article and Find Full Text PDFPublished studies have reported widely variable incidence of HER2/neu (c-erbB-2) protein expression and HER2/neu (c-erbB-2) gene amplification in cervical carcinoma. We examined tissue microarrays (TMAs) constructed from 814 formaldehyde-fixed paraffin-embedded archival specimens of cervical intraepithelial neoplasia (CIN)1 (n = 262), CIN2 (n = 230), CIN3 (n = 186) and invasive carcinoma (n = 136), for HER2/neu protein expression by immunohistochemistry (IHC) and for HER2/neu gene amplification by chromogenic in situ hybridization (CISH). We found moderate or strong immunohistochemical positivity for HER2/neu in 64 of 814 specimens (7.
View Article and Find Full Text PDFBackground: To evaluate the usefulness of this biomarker in the diagnosis of cases of cervical neoplasia we studied the immunohistochemical expression of p16INK4a in a large series of archival cervical biopsies arranged into tissue microarray format.
Methods: TMAs were constructed with tissue cores from archival formalin fixed, paraffin-embedded donor tissues from 796 patients, and included cases of cervical intraepithelial neoplasia (CIN)1 (n = 249), CIN2 (n = 233), CIN3 (n = 181), and invasive cervical carcinoma (n = 133). p16INK4a expression was scored using two different protocols: 1) positive vs negative p16INK4a staining; 2) a semi-quantitative immunohistochemical score (0 to 8 points) according to the intensity of staining and the proportion of stained cells
Results: p16INK4A expression was not seen in normal cervix tissue, but was found with increasing frequency in the sequence: CIN1 (180/249; 72.