31 research outputs found
Malignant melanoma arising from a perianal fistula and harbouring a BRAF gene mutation: a case report
<p>Abstract</p> <p>Background</p> <p>Melanoma of the anal region is a very uncommon disease, accounting for only 0.2-0.3% of all melanoma cases. Mutations of the <it>BRAF </it>gene are usually absent in melanomas occurring in this region as well as in other sun-protected regions. The development of a tumour in a longstanding perianal fistula is also extremely rare. More frequent is the case of a tumour presenting as a fistula, that is, the fistula being a consequence of the cancerous process, although we have found only two cases of fistula-generating melanomas reported in the literature.</p> <p>Case Presentation</p> <p>Here we report the case of a 38-year-old male who presented with a perianal fistula of four years of evolution. Histopathological examination of the fistulous tract confirmed the presence of malignant melanoma. Due to the small size and the central location of the melanoma inside the fistulous tract, we believe the melanoma reported here developed in the epithelium of the fistula once the latter was already formed. Resected sentinel lymph nodes were negative and the patient, after going through a wide local excision, remains disease-free nine years after diagnosis. DNA obtained from melanoma tissue was analysed by automated direct sequencing and the <it>V600E </it>(<it>T1799A</it>) mutation was detected in exon 15 of the <it>BRAF </it>gene.</p> <p>Conclusion</p> <p>Since fistulae experience persistent inflammation, the fact that this melanoma harbours a <it>BRAF </it>mutation strengthens the view that oxidative stress caused by inflammatory processes plays an important role in the genesis of <it>BRAF </it>gene mutations.</p
Specific genomic aberrations in primary colorectal cancer are associated with liver metastases
Background: Accurate staging of colorectal cancer (CRC) with clinicopathological parameters is important for predicting prognosis and guiding treatment but provides no information about organ site of metastases. Patterns of genomic aberrations in primary colorectal tumors may reveal a chromosomal signature for organ specific metastases. Methods: Array Comparative Genomic Hybridization (aCGH) was employed to asses DNA copy number changes in primary colorectal tumors of three distinctive patient groups. This included formalin-fixed, paraffin-embedded tissue of patients who developed liver metastases (LM; n = 36), metastases (PM; n = 37) and a group that remained metastases-free (M0; n = 25). A novel statistical method for identifying recurrent copy number changes, KC-SMART, was used to find specific locations of genomic aberrations specific for various groups. We created a classifier for organ specific metastases based on the aCGH data using Prediction Analysis for Microarrays (PAM). Results: Specifically in the tumors of primary CRC patients who subsequently developed liver metastasis, KC-SMART analysis identified genomic aberrations on chromosome 20q. LM-PAM, a shrunken centroids classifier for liver metastases occurrence, was able to distinguish the LM group from the other groups (M0&PM) with 80% accuracy (78% sensitivity and 86% specificity). The classification is predominantly based on chromosome 20q aberrations. Conclusion: Liver specific CRC metastases may be predicted with a high accuracy based on specific genomic aberrations in the primary CRC tumor. The ability to predict the site of metastases is important for improvement of personalized patient management.MediamaticsElectrical Engineering, Mathematics and Computer Scienc
Detection of relevant colonic neoplasms with PET/CT: promising accuracy with minimal CT dose and a standardised PET cut-off
Recommended from our members
A preliminary study: saltiness and sodium content of aqueous extracts from plants and marine animal shells
To develop a salt substitute with low sodium
content, the water-soluble components of seaweed, kelp,
clamshell, oyster shell, semen cassiae, cuttlefish bone, inula
flower, Arabia cowry shell, and sanna leaf were extracted
with water. The aqueous extracts of nine species of plants
and marine animal shells were obtained after drying the
plants and shells at 105 °C until achieving a constant
weight. The hedonic scale test revealed that the clamshell
and cuttlefish bone aqueous extracts tasted distinctly salty.
The result of the degree of difference test showed that the
1 % clamshell extract solution (m/v) and 0.6 % cuttlefish
bone extract solution (m/v) both had equivalent saltiness of
0.6 % NaCl (m/v). In contrast, the sodium content in the
cuttlefish bone extract solution was 27 % less than that in
a NaCl solution of the same degree of saltiness. Therefore,
a novel salt substitute will be developed in future studies in
accordance with the principles of bionics and a deep understanding
of the salty taste interactions among key salty
components in the cuttlefish bone extract