Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes.

Background: Intramuscular myxoma (IM) is a hypocellular benign soft tissue neoplasm characterized by abundant myxoid stroma and occasional hypercellular areas. These tumors can, especially on biopsy material, be difficult to distinguish from low-grade fibromyxoid sarcoma or low-grade myxofibrosarcoma. GNAS mutations are frequently involved in IM, in contrast to these other malignant tumors.

Solitary fibrous tumor - clinicopathologic, immunohistochemical and molecular analysis of 28 cases.

Background: Solitary fibrous tumor is a mesenchymal tumor of fibroblastic type, which can affect any region of the body. Recently, a recurrent gene fusion NAB2-STAT6 has been identified as molecular hallmark. The NAB2-STAT6 fusion leads to EGR1 activation and transcriptional deregulation of EGR1-dependent target genes and is a driving event in initiation of SFT.

Transanal versus traditional laparoscopic total mesorectal excision for rectal carcinoma.

Background: After total mesorectal excision (TME) surgery, patients with an incomplete mesorectum have an increased risk of local and overall recurrence. With the introduction of laparoscopic TME, an improved quality of the specimen was expected. However, the quality-related results were comparable to the results after traditional open surgery.

Oestrogen receptor-beta as a potential target for treatment in advanced colorectal cancer: a pilot study.

Aims: Oestrogen receptor-beta (ER-β) is expressed in colorectal cancer. Theoretically, ER-β stimulation could slow down tumour proliferation, and this is supported by preclinical research data. While preparing a Phase II trial for advanced colorectal cancer patients we performed a pilot study with three questions: (i) in what percentage of patients do metastases display strong ER-β1 expression; (ii) is there any concordance in expression between primary tumours and metastases; and (iii) is the immunohistochemical (IHC) scoring procedure reproducible?

Methods And Results: Thirty patients were selected, 15 with locoregional lymph node metastases and 15 with either synchronous or metachronous hepatic metastases.

[A woman with ongoing anaemia].

In a 65-year-old female with iron deficiency anaemia, video capsule endoscopy showed an ulcerative polyp in the proximal ileum. After histological examination we made the diagnosis 'granuloma pyogenicum', a rare cause of gastrointestinal bleeding. After partial resection of the small intestine, the anaemia was cured.

EGFR and KRAS mutations in lung carcinomas in the Dutch population: increased EGFR mutation frequency in malignant pleural effusion of lung adenocarcinoma.

Background: Frequencies of EGFR and KRAS mutations in non-small cell lung cancer (NSCLC) have predominantly been determined in East Asian and North American populations, showing large differences between these populations. The aim of the present study was to determine the frequency of EGFR and KRAS mutations in NSCLC in the West European Dutch population in primary carcinomas and different metastatic locations.

Methods: EGFR (exons 19, 20 and 21) and KRAS (exons 2 and 3) mutation test results of NSCLC samples of patients in 13 hospitals were collected.

Allelic imbalance in hereditary and sporadic prostate cancer.

Background: In this study, we evaluate the pattern of allelic imbalance (AI) in both sporadic prostate cancer (SPC) and hereditary prostate cancer (HPC) at loci that frequently show allelic imbalance in sporadic prostate cancer, or are believed to have a putative role in the disease.

Methods: DNA obtained from 35 sporadic tumors and 46 hereditary tumors were tested for AI, by using a panel of 35 microsatellite markers.

Results: Chromosomal regions that display high frequencies of AI (>or=30%) in HPC include 1q, 5q, 7q, 8p, 13q, 16q, 17q, 18q, and 20q.

Single-nucleotide polymorphism in the E-cadherin gene promoter modifies the risk of prostate cancer.

E-cadherin plays a major role in intercellular adhesion, cell polarity and tissue architecture. We determined the relative risk of PCa associated with a previously reported C/A SNP at -160 bp relative to the transcription-start site of the E-cadherin gene promoter. Eighty-two PCa patients and 188 controls were genotyped.