Additional file 5: Table S4. Gene expression array of PKH26+ versus PKH26− cells ordered according to PCA Factor 4 and transcripts modulated in quiescent/slow proliferating (PKH26+) and fast proliferating (PKH26−) cells.
Malignant melanoma of the choroid is the most common intraocular tumour in the adults and usually offers few diagnostic difficulties on both clinical and histological examination. Uveal melanomas are composed of spindle and/or epithelioid cells, usually arranged in compactly woven bundles or distributed in a solid pattern. Far less common is the fascicular type, in which the tumour cells appear to be arranged either in palisades (Verocay-like pattern) or in columns perpendicular to a central blood vessel, the so-called vasocentric pattern. This sub-type of spindle-B cell melanoma was first described by Callender1 2 in 2.6% of 500 uveal melanomas, and an association with higher mortality was noted.1
We describe a case of fascicular malignant choroidal melanoma containing large areas of tumour cells arranged in a peculiar pseudopapillary pattern and discuss some of the cytological and immunohistochemical findings.
A 66-year-old woman complaining of progressive visual loss was referred to our Ophthalmologic Department after she was found to have a retinal detachment and a large non-pigmented choroidal tumour in the inferior-temporal quadrant of …
Background: An increased risk for small bowel carcinoma (SBC) has been reported in Crohn's disease (CrD). We aimed to explore clinical, histopathologic, molecular and prognostic features of CrD-associated SBC (CrD-SBC) in comparison to both coeliac disease (CD)-associated SBC (CD-SBC) and sporadic SBC (spo-SBC). Methods: Seventy-six patients, who underwent surgical resection for non-familial SBC (25 CrD-SBC26, CD-SBC and 25 spo-SBC), were retrospectively recorded to investigate survival together with histological and molecular features detected by immunohistochemistry, multiplex PCR and sequencing. Results: CD-SBC showed a significantly (p=0.004) better sex-, age- and stage-adjusted overall and cancer-specific survival in comparison to CrD-SBC, while no significant difference was found between spo-SBC and either CD-SBC or CrD-SBC. CD-SBC exhibited a significantly (p=0.001) higher rate of microsatellite instability (MSI, 65%) compared to both CrD-SBC (16%) and Spo-SBC (16%). The median number of tumor-infiltrating lymphocytes (TIL) correlated with MSI status and was significantly higher in CD-SBC than in both CrD-SBC (p<0.001) and spo-SBC (p=0.002). Among CD-SBC, MSI allowed to separate two subgroups with different outcome, stage and TP53 mutation rate. MSI was the result of MLH1 methylation in all cases (with the exception of one case of CrD-SBC). No BRAF mutation was observed in any SBC. Mutations in KRAS, NRAS, and PIK3CA were detected in 30%, 4% and 13% of cases, respectively. HER2 gene amplification was identified in two CD-SBC, two CrD-SBC and one spo-SBC. Conclusions: In comparison to CrD-SBC, CD-SBC harbor much more frequently MSI and show a more favorable prognosis, likely related to their high density of TILs, which have independent prognostic value in SBC. MSI status, KRAS/NRAS mutations and HER2 amplifications might contribute to stratify patients for targeted anti-cancer therapy.
Gastrointestinal stromal tumors (GIST) are mainly located in the stomach and the small bowel, with the duodenum accounting for about 4%. We report the case of a 66-year-old woman with a periampullary GIST of the duodenum that was treated by local excision and direct duodenal wall defect repair. Since no definitive clinical criteria have been established to differentiate malignant from benign mesenchymal tumors, preoperative cytology was not available and surgical removal of the 3.5 cm tumor was feasible, the patient was treated conservatively. The morbidity and mortality rates of the more radical and invasive duodenopancreatectomy, in particular when dealing with a soft pancreatic stump with a narrow pancreatic duct, are, in our opinion, too high for a potentially benign disease when the more conservative procedure is feasible. Four years after surgery the patient is doing well and control CT scan showed the absence of local recurrence.
Inflammatory myoglandular polyp (IMGP) is a rare non-neoplastic polyp of the large bowel, commonly with a distal localization (rectosigmoid), obscure in its pathogenesis. Up till now, 60 cases of IMGP have been described in the literature, but none located in the cecum. We report a case of a 53-year-old man who was admitted to our hospital for further evaluation of positive fecal occult blood test associated to anemia. A colonoscopy identified a red, sessile, lobulated polyp of the cecum, 4.2 cm in diameter, partially ulcerated. The histological examination of the biopsy revealed the presence of inflammatory granulation tissue with lymphocytic and eosinophil infiltration associated to a fibrous stroma: it was diagnosed as inflammatory fibroid polyp. Considering the polyp's features (absence of a peduncle and size) that could increase the risk of a polypectomy, a surgical resection was performed. Histological examination of the specimen revealed inflammatory granulation tissue in the lamina propria, hyperplastic glands with cystic dilatations, proliferation of smooth muscle and multiple erosions on the polyp surface: this polyp was finally diagnosed as IMGP. There was also another little polyp next to the ileocecal valve, not revealed at the colonoscopy, 0.8 cm in diameter, diagnosed as tubulovillous adenoma with low grade dysplasia. This is the first case of IMGP of the cecum. It is a benign lesion of unknown pathogenesis and must be considered different from other non-neoplastic polyps of the large bowel such as inflammatory cap polyps (ICP), inflammatory cloacogenic polyps, juvenile polyps (JP), inflammatory fibroid polyps (IFP), polyps secondary to mucosal prolapse syndrome (MPS), polypoid prolapsing mucosal folds of diverticular disease. When symptomatic, IMGP should be removed endoscopically, whereas surgical resection is reserved only in selected patients as in our case.
Objective: To characterize anal human papillomavirus (HPV) infections in terms of genotype prevalence and type-specific DNA load in HIV-positive men. Design: HIV-positive men attending the colo-proctological clinic of a University Hospital in Rome were recruited prospectively from November 2004 to July 2007. HIV-negative outpatients attending the same clinic over the same period were used as a control group. Methods: Anal brushings were tested for HPV-DNA using polymerase chain reactions and direct sequencing; type-specific HPV-DNA copies were measured in most positive samples. HPV data were correlated with patient HIV status and risk factors. Results: HPV-DNA infection was detected in 81% of HIV-positive men. Almost all homosexual men were HPV-infected. The infection rate in low-risk HPV types was higher than in high-risk types. The spectrum of HPV genotypes was comparable between HIV-positive and HIV-negative men. Numbers of HPV-DNA copies varied greatly between samples but did not differ significantly between HIV-positive and HIV-negative men. In many samples, low-risk (HPV 6, 61, 70, and 74) viral loads were comparable with those of high-risk HPVs. Conclusion: Type-specific HPV-DNA copies at baseline appear to be independent of patient immune status and of HPV genotype. HPV genotype risk and viral load should be further evaluated for their potential predictive role in persistence and progression.
