Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome?

BACKGROUND: Uterine papillary serous carcinoma (UPSC) shares common pathologic, genetic, and clinical features with other serous cancers of müllerian origin. The most common histologic type of ovarian tumor associated with BRCA mutations is papillary serous. Because of these histologic similarities, we postulated that, in some cases, UPSC may be a manifestation of a field defect in BRCA1 carriers, which also includes ovarian carcinoma, fallopian tube carcinoma, and primary peritoneal carcinoma. METHODS: Fifty-six living patients with UPSC were contacted through their treating physicians and agreed to a family history interview and to provide a blood specimen for BRCA testing. The protein truncation test was used to detect mutations in exons 10 and 11 of BRCA1 and in exon 11 of BRCA2. The presence of four common mutations was assessed by PCR-based specific assays. RESULTS: A high proportion of patients had a past history of breast cancer (11%) or a first-degree relative with breast cancer (29%). Four patients were from families with site-specific hereditary breast cancer. However, there was no clear example of the hereditary breast-ovarian cancer syndrome, and none of the 56 patients was found to carry a BRCA1 or BRCA2 mutation. CONCLUSIONS: BRCA mutations do not appear to predispose to UPSC and this type of cancer does not appear to be a manifestation of the classical hereditary breast-ovarian cancer syndrome. The observed association between UPSC and breast cancer may be due to the presence of mutations in other cancer predisposing genes.     

Bilateral microtia with severe cardiac defect: a new syndrome, or a severe manifestation of the oculoauriculovertebral spectrum?

A male infant is reported with bilateral low-set dysplastic ears, a severe cardiac defect, rib and vertebral anomalies, and intestinal malrotation. Karyotype and metabolic investigations were normal. Some clinical overlap with Goldenhar syndrome is observed but the symmetry of the facial features makes this diagnosis difficult to sustain. We feel this case may represent a previously undescribed condition, arising from abnormal development of the first and second branchial arches during embryonic life.     

Is uterine serous papillary carcinoma a BRCA1-related disease? Case report and review of the literature.

OBJECTIVES: Type II endometrial carcinomas are estrogen-independent and have adverse histologic features and a substantially poorer prognosis. No risk factors have been identified. Interestingly, there is a striking clinical and histopathological similarity between serous papillary carcinomas of the ovary (OSPC), endometrium, and peritoneal cavity, suggesting a common oncogenic mechanism. Several common molecular alterations were found using molecular comparative analysis of OSPC and uterine serous papillary carcinoma (USPC). Germline mutations in the BRCA1 tumor suppressor gene predispose to breast and ovarian cancer but no association with sporadic endometrial cancer has been found. A family of Ashkenazi Jewish origin, in which one sister was first diagnosed with USPC and the second diagnosed with OSPC, led to the hypothesis that a BRCA mutation may contribute to USPC. METHODS: Genomic DNA from both patients as well as two unaffected siblings was analyzed for the three mutations common in Ashkenazi Jews. Loss of heterozygosity (LOH) analysis was performed on DNA extracted from USPC tumor tissue. RESULTS: Both affected sisters tested positive for BRCA1 5382insC germline mutation. LOH analysis confirmed the results. CONCLUSIONS: We present a breast-ovarian cancer family including two sisters with advanced serous papillary carcinomas of endometrial and ovarian origins, carrying the same BRCA1 mutation (5382insC). LOH analysis on USPC tumor DNA showed loss of the wild-type allele, suggesting a causal relationship between the germline BRCA1 mutation and USPC. We believe a study examining BRCA1 mutations in a large cohort of women with this high-risk endometrial carcinoma is warranted. A positive finding may have implications for surveillance and prophylactic surgery in carriers of BRCA1 mutations.     

Liver metastasis in a case of adenoid cystic carcinoma of the Bartholin’s gland: a rare presentation

Introduction  Adenoid cystic carcinoma of the Bartholin’s gland accounts for a minority of all Bartholin’s gland malignancies. Although local recurrences commonly occur distant metastasis is rare. Case report  We present the first reported case of Adenoid cystic carcinoma of the Bartholin’s gland with metastasis to the liver. Discussion  There is no consensus on the treatment of adenoid cystic carcinoma of the Bartholin’s gland. Wide local excision and/or vulvectomy and radiotherapy are advocated for treatment of this cancer. There is not much data on treatment of metastasis and it varies according to site. An erratum to this article can be found at     

Pathological characteristics of a series of rare chronic histiocytic intervillositis of the placenta

Chronic histiocytic intervillositis of the placenta (CHI) is a rare and poorly understood pathology which may occur in all trimesters. The most conspicuous feature is a histiocytic infiltration of the intervillous space without involvement of the villous parenchyma. In this report on CHI, we re-evaluate a series of four cases and focus on histological, immunohistological and fluorescence in situ hybridisation-derived findings, fetal status and clinical data for previously unrecognised CHI-associated features. Our approach revealed that assisted reproduction-induced pregnancy had been performed in 2 of 4 CHI cases, but other factors and comorbidities are likely to contribute to CHI.     

A rare cause of polyhydramnios: Neu–Laxova syndrome

Neu–Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death. Thirty cases have been identified since the publication of the first two cases and only five of them had a prenatal diagnosis. The earliest diagnosis in a published case was at week 32 of gestation. This study illustrates that the detection of the syndrome during the second trimester of gestation is possible, with emphasis on the detection of the early appearance of polyhydramnios and the association of the syndrome with the Arabic ethnic group.     

Mucineus cystadenoma of the appendix presenting as hydrosalpinx—a pitfall in gynaecological medical imaging

Mucinous cystadenomas of the appendix represent a very small proportion of the appendiceal pathology, yet, they can lead to a life-threatening condition, such as pseudomyxoma peritonei (PMP), if the diagnosis is delayed. Due to the tubular shape and the proximity of the right adnex, the misdiagnosis of a hydrosalpinx, a condition much more common in women and not requiring an immediate intervention, could be made. We describe a case of a 19-year-old girl presenting with symptoms of acute low abdominal pain. According to the medical imaging (ultrasound and magnetic resonance), a torsion of known chronic hydrosalpinx was suspected and an urgent laparoscopy was performed revealing, surprisingly, an enlarged appendix. Laparoscopic appendectomy was performed without difficulty. The pathology report identified a mucinous cystadenoma. Despite the recent evolution of medical imaging techniques, a misdiagnosis of the nature of a pelvic mass is still possible, leading, occasionally, to the delay of an appropriate treatment. In any case of doubt, a diagnostic laparoscopy should be performed as a golden standard in the diagnosis and management of pelvic adnexal masses in women.     

Ascites in puerperium: a rare case of atypical pseudo-Meigs’ syndrome complicating the puerperium

Purpose  

We report the case of puerperal ascites, associated with elevated CA125 levels and secondary to a uterine myoma. The literature on pseudo-Meigs’ syndrome associated with pregnancy was reviewed.     

Endometriosis: a disease of oxidative stress?

Our central hypothesis proposes that oxidatively damaged red blood cells (RBCs), apoptotic endometrial cells or undigested endometrial tissue may signal the recruitment and activation of mononuclear phagocytes. Women with endometriosis are prone to respond to this stimulus with an inadequate macrophage scavenger receptor response although the secretory response is not impaired. Activated macrophages in the peritoneal cavity generate an oxidative stress, which consists of lipid peroxides, their degradation products, and products formed from their interaction with low-density lipoprotein (LDL) apoprotein and other proteins. The lipoproteins of the peritoneal fluid (interstitial fluid) have been shown to have lower vitamin E levels and to be more readily oxidized than plasma, so peritoneal fluid may actually contribute to the disease process actively rather than as a passive carrier of mediators of inflammation and growth. As a result of such a stress, a sterile, inflammatory reaction with secretion of growth factors, cytokines, and chemokines is generated, which is deleterious especially to successful reproduction. We propose that such a pro-oxidant environment (peritoneal fluid as well as activated macrophages) promotes growth of ectopic endometrium. The data presented in this review are just the beginning of exploring the role of oxidative stress in mediating the pathophysiology of endometriosis. Only by understanding the mechanisms involved in the pathogenesis of endometriosis can we develop the basis for new diagnostic and therapeutic approaches.     

Ovarian metastases caused by cholangiocarcinoma: a rare Krükenberg's tumour simulating a primary neoplasm of the ovary: a two-case study

Introduction Ovarian metastases represent 10% of all ovarian malignancies. They are characterized by their ability to occasionally reproduce mimicking the clinical and morphological appearance of primary tumours, making diagnosis difficult. Most of these tumours originate in the digestive tract, the best known being Krukenberg's tumour in the stomach. Cholangiocarcinomas are rare neoplasias that very rarely affect the ovary. Their retroperitoneal location and low histological specificity in the ovary may lead to a misdiagnosis. This makes it necessary to accurately assess all clinical, radiological and morphological symptoms so as to avoid inappropriate treatments in affected patients. Case report Two cases of biliary cholangiocarcinomas simulating an ovarian neoplasia are reported.     

A rare cause of fetal ascites: A case report of Günther's disease.

Despite an arsenal of ever-improving diagnostic tools, determining the precise etiology of fetal ascites is not always possible. We report a case history where moderately-severe fetal ascites was retrospectively determined to be due to Günther's disease (congenital erythropoietic porphyria). The infant was found to carry the mutation associated with the most severe disease phenotype in which fetal hydrops has been described.     

Paget’s disease of the vulva with bladder invasion: a case report

Tumor excision and dermal-flap skin graft operations were performed on a 72-year-old woman diagnosed with extramammary Paget's disease at our hospital in August 2001. Paget cells were identified in the external urethral meatus even though nine local excisions of recurrent tumors had been performed. She was suffered from severe vesical pain from May 2007. Urine cytology was class V and physical examination revealed redness in external urethral meatus. Pelvic MRI did not show apparent lymph node swelling and the endoscopic multiple biopsies performed at multiple bladder mucosa and distal urethra. Pathological diagnosis of the endoscopic biopsy showed multiple Paget cells from urethra, posterior and bilateral lateral wall, and bladder neck. Because Paget's disease may infiltrate bladder mucosa and cause severe vesical pain due to bladder invasion, total cystorethrectomy, ileal conduit, and external skin excision were performed. Pathological findings were continuous infiltration of Paget cells from external urethral meatus to bladder mucosa.