A single founder allele of the CHEK2 gene has been associated with predisposition to breast and prostate cancer in North America and Europe. The CHEK2 protein participates in the DNA damage response in many cell types and is therefore a good candidate for a multisite cancer susceptibility gene. Three founder alleles are present in Poland. Two of these result in a truncated CHEK2 protein, and the other is a missense substitution of an isoleucine for a threonine. We ascertained the prevalence of each of these alleles in 4,008 cancer cases and 4,000 controls, all from Poland. The majority of the common cancer sites were represented. Positive associations with protein-truncating alleles were seen for cancers of the thyroid (odds ratio [OR] 4.9; P=.0006), breast (OR 2.2; P=.02), and prostate (OR 2.2; P=.04). The missense variant I157T was associated with an increased risk of breast cancer (OR 1.4; P=.02), colon cancer (OR 2.0; P=.001), kidney cancer (OR 2.1; P=.0006), prostate cancer (OR 1.7; P=.002), and thyroid cancer (OR 1.9; P=.04). The range of cancers associated with mutations of the CHEK2 gene may be much greater than previously thought.

Background and Study Objectives. Enterovesical fistula (EVF) is a devastating complication of a variety of inflammatory and neoplastic diseases. Radiological imaging plays a vital role in the diagnosis of EVF and is indispensable to gastroenterologists and surgeons for choosing the correct therapeutic option. This paper provides an overview of the diagnosis of enterovesical fistulae. The treatment of fistulae is also briefly discussed. Material and Methods. We performed a literature review by searching the Medline database for articles published from its inception until September 2013 based on clinical relevance. Electronic searches were limited to the keywords: “enterovesical fistula,” “colovesical fistula” (CVF), “pelvic fistula”, and “urinary fistula”. Results. EVF is a rare pathology. Diverticulitis is the commonest aetiology. Over two-thirds of affected patients describe pathognomonic features of pneumaturia, fecaluria, and recurrent urinary tract infections. Computed tomography is the modality of choice for the diagnosis of enterovesical fistulae as not only does it detect a fistula, but it also provides information about the surrounding anatomical structures. Conclusions. In the vast majority of cases, this condition is diagnosed because of unremitting urinary symptoms after gastroenterologist follow-up procedures for a diverticulitis or bowel inflammatory disease. Computed tomography is the most sensitive test for enterovesical fistula.

Nasopharyngeal angiofibroma (NA) is a rare, vascular tumor affecting adolescent males. Due to aggressive local growth, skull base location and risk of profound hemorrhage, NA is a challenge for surgeons. Angiofibromas have been sporadically described in extanasopharyngeal locations. We review ten cases of extranasopharyngeal angiofibroma (ENA) and discuss the incidence, clinical presentation and management of this pathology. The group consisted of 4 males and 5 females aged 8–49. There were 7 patients with nasal angiofibroma, 1 patient with laryngeal angiofibroma, 1 patient with oral angiofibroma and another patient with infratemporal fossa tumor. In patients with nasal angiofibroma most common presenting symptoms were nasal obstruction and epistaxis. Patients with laryngeal angiofibroma suffered from mild dysphagia and patients with the infratemporal fossa tumor had painless cheek swelling. In four patients with nasal tumor computed tomography (CT) demonstrated mass with strong to intermediate contrast enhancement. In one patient with nasal tumor carotid angiography demonstrated pathological vessels without intensive tumor blush. Infratemporal fossa tumor showed intensive contrast enhancement on CT and magnetic resonance imaging (MRI) scans, and abundant vascularity on angiography. Laryngeal and oral angiofibroma required no radiological imaging. Three nasal tumors were evaluated before introduction of CT to clinical practice. All patients underwent surgery. No recurrences developed. ENAs differ significantly from NAs regarding clinical and radiological presentations. They lack typical clinical and radiological features as they develop in all age groups and in females, may be less vascularised, arise from various sites and produce a variety of symptoms.

No abstract