Somatic deletion of KDM1A/LSD1 gene is associated to advanced colorectal cancer stages.

AIMS: KDM1A/LSD1 and ZNF217 are involved in a protein complex that participates in transcriptional regulation. ZNF217 has been analysed in numerous cancers and its amplification has been associated with advanced stages of disease; however, a similar role for KDM1A/LSD1 has not been uncovered. In this study, we estimated the number of KDM1A/LSD1 and ZNF217 gene copies in tissue samples from patients diagnosed with colorectal cancer (CRC), as well as its association with clinicopathological features in patients with CRC. METHODS: Paraffin-embedded tumour samples from 50 patients with CRC with a histopathological diagnosis of CRC were included. The number of copies of KDM1A/LSD1 and ZNF217 genes was determined by fluorescence in situ hybridisation (FISH). We also analysed the association between copy numbers of selected genes and clinicopathological data based on multivariate analysis. RESULTS: Deletion of the KDM1A/LSD1 gene occurred in 19 samples (38%), whereas ZNF217 gene amplification was identified in 11 samples (22%). We found a significant association between lymph node metastasis or advanced tumour stage and KDM1A/LSD1 gene deletion (p value=0.0003 and p value=0.011, respectively). CONCLUSIONS: KDM1A/LSD1 gene deletion could be considered a novel prognostic biomarker of late-stage CRC.

Obstructing gangliocytic paraganglioma in the third portion of the duodenum.

Gangliocytic paragangliomas are infrequent tumors almost exclusively found in the second portion of the duodenum. An unusual case of a gangliocytic paraganglioma in the third portion of the duodenum with obstructive symptoms is herein reported. A 16-year-old male patient presented with epigastric pain, postprandial plenitude and reflux. A barium swallow failed to demonstrate abnormalities. Endoscopy showed a pedunculated submucosal tumor, originating at the third duodenal portion and causing partial obstruction. Biopsy was not performed due to the risk of bleeding. CT scan demonstrated a polypoid lesion. Through a transmesocolic approach and an anterior duodenotomy, resection of the tumor was performed. No lymph node or other organ affection was found. Histologic examination revealed a gangliocytic paraganglioma. Immunohistochemical examination was performed. Gangliocytic paragangliomas originating in the third or fourth portion of the duodenum, as in the present case, are extremely rare. Characteristic histologic features including epithelioid cells, spindle-shaped cells and ganglion-like cells were met. The majority of cases manifest with a similar benign behavior. Local resection of the tumor is recommended for these cases. An infrequent case of a gangliocytic paraganglioma located in the third portion of the duodenum, with a less common clinical presentation, is herein reported.

CEACAM1 in cervical cancer and precursor lesions: association with human papillomavirus infection.

Carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) is an adhesion molecule expressed in a wide variety of tissues including epithelial cells, leukocytes, and tumors that may establish both homotypic and heterotypic interactions. The aim of this work was to study the protein expression pattern of CEACAM1 in cervical cancer and precursor lesions in the context of human papillomavirus (HPV) infection. We used immunohistochemistry to analyze CEACAM1 expression in formalin-fixed, paraffin-embedded cervical tissues from 15 healthy women, 15 patients with low-grade squamous intraepithelial lesions (SIL), 15 patients with high-grade SIL, and 15 patients with squamous carcinomas. HPV types were identified by PCR. CEACAM1 was either undetectable (13/15) or low (2/15) in normal cervical tissues. By contrast, CEACAM1 expression was increased in high-grade SIL (10 samples staining intermediate/high and 4 samples staining low) as compared with low-grade SIL with undetectable (n=3) or low (n=12) expression. CEACAM1 expression was undetectable or low in cervical carcinoma. Our results suggest that CEACAM1 may be an interesting progression marker in SIL and cervical cancer, in particular due to reported immunoregulatory properties.