Francesco Borrini

KRAS and BRAF Mutation Detection: Is Immunohistochemistry a Possible Alternative to Molecular Biology in Colorectal Cancer?

KRAS genotyping is mandatory in metastatic colorectal cancer treatment prior to undertaking antiepidermal growth factor receptor (EGFR) monoclonal antibody therapy. BRAF V600E mutation is often present in colorectal carcinoma with CpG island methylator phenotype and microsatellite instability. Currently, KRAS and BRAF evaluation is based on molecular biology techniques such as SNaPshot or Sanger sequencing. As molecular testing is performed on formalin-fixed paraffin-embedded (FFPE) samples, immunodetection would appear to be an attractive alternative for detecting mutations. Thus, our objective was to assess the validity of KRAS and BRAF immunodetection of mutations compared with the genotyping reference method in colorectal adenocarcinoma. KRAS and BRAF genotyping was assessed by SNaPshot. A rabbit anti-human KRAS polyclonal antibody was tested on 33 FFPE colorectal tumor samples with known KRAS status. Additionally, a mouse anti-human BRAF monoclonal antibody was tested on 30 FFPE tumor samples with known BRAF status. KRAS immunostaining demonstrated both poor sensitivity (27%) and specificity (64%) in detecting KRAS mutation. Conversely, BRAF immunohistochemistry showed perfect sensitivity (100%) and specificity (100%) in detecting V600E mutation. Although molecular biology remains the reference method for detecting KRAS mutation, immunohistochemistry could be an attractive method for detecting BRAF V600E mutation in colorectal cancer.

Endoscopic treatment of ganglioneuroma of the colon associated with a lipoma: a case report

IntroductionGanglioneuromas are rare benign peripheral neuroblastic tumors characterized by hyperplasia of ganglion cells, nerve fibers, and supporting cells. They are not usually localized in the colon.Case presentationA 61-year-old Caucasian man was admitted to our department for colon cancer screening. A colonoscopy revealed a lipoma of 5cm in diameter, two micropolyps of less than 1cm, and one sessile polyp of 0.6cm in diameter. The polyps were removed with hot biopsy forceps. A histological examination revealed two hyperplastic polyps and one ganglioneuroma polyp. A follow-up colonoscopy showed no signs of recurrence after 16 months.ConclusionsAlthough a few cases of lipomas associated with ganglioneuromatous syndrome have been reported, the association of an intestinal lipoma with an isolated ganglioneuroma polyp has not been described. The implications of this association are unknown.

Subcutaneous metastases from colon cancer: a case report

IntroductionDukes A stages of colorectal cancer are rarely reported to metastasize. Subcutaneous or skin metastases from colon cancer are rare events and usually indicate widespread disease.Case presentationWe present the case of a 72-year-old Caucasian woman with Dukes A colorectal cancer at diagnosis and, three years later, a single secondary subcutaneous involvement with no other metastatic sites. The description of this case is supported by critical analysis of its clinical, radiological and pathological features. Our report illustrates that diagnosis can be difficult and controversial when relapse occurs in early stage patients and at uncommon sites.ConclusionThe unusual and aggressive course of the reported disease stresses the importance of intensive follow-up in colorectal cancer patients with good prognostic factors.

Primary Osteosarcoma of the Breast

observed (Fig. 3). The presented case shows theimportance of team work and selection of the optimalirradiation technique in determining diagnosis, tumorstaging, and treatment of the patient. After histologi-cal classification, high-grade primary breast lympho-mas should be treated with combinationchemotherapy with or without radiation similar tosystemic lymphomas of a similar histological type.Reports on breast lymphoma treatment include fewor no details about the target volume and applied irra-diation technique and usually mention only the totalradiation dose. The delivery of radiotherapy was a sig-nificant predictor of improved overall survival in ourcase.

Cooperation between the Surgical Oncologist and the Pathologist

The diagnosis, treatment and follow up of oncologic patients require multidisciplinary working groups made up of a dedicated team of physicians. Over the last decade the multidisciplinary treatment of oncologic diseases has become increasingly integrated and decreasingly sequential. The aim of cooperation is to provide quality treatment and produce new knowledge through both basic and clinical research and medical education.