Case report of a primary subcutaneous melanoma:a surprising entity for a subcutaneous nodule

INTRODUCTION: A melanoma can originate at the subcutis without any visible skin lesion. CASE PRESENTATION: A 73-year old patient came to the outpatient clinic with a subcutaneous nodule on the right thigh without any visible lesion of the skin. It turned out to be a primary subcutaneous melanoma that could be classified as a primary dermal melanoma (PDM). DISCUSSION: A PDM is a very rare subtype of melanoma that stands out for its excellent prognosis in comparison to cutaneous melanomas. No valid reliable staging system or treatment guideline exists for this entity, Breslow depth might overestimate the clinical aggressiveness possibly leading to overtreatment. CONCLUSION: It is of great importance for the clinician to be familiar with a primary dermal melanoma. It deserves an appropriate place in the current AJCC system and a treatment guideline for this unique melanoma subtype with relativity excellent prognosis would be beneficial

Screening for germline DND1 mutations in testicular cancer patients

Although several observations suggest that a strong genetic predisposition to developing testicular germ cell tumors (TGCT) exists, no associated, highly penetrant germline mutations have been identified so far. In the 129/Sv mouse strain, a germline mutation in the DND1 gene has been shown to strongly increase the TGCT risk. We screened 272 men with TGCT (89% sporadic cases, 11% familial) for germline mutations in the human homologue of DND1. A single nucleotide substitution c.657C > G (p.Asp219Glu) was observed in a non-familial case of testicular embryonal carcinoma. The variant was also present in the patient’s asymptomatic father and two brothers, but not observed in 210 control chromosomes. The wild type DND1 allele was not lost in the patient’s tumor. In silico analysis of the variant predicts it to be non-pathogenic. We conclude that germline DND1 mutations are unlikely to contribute significantly to human testicular germ cell tumor susceptibility. The role of human DND1 in normal physiology and disease, however, is still virtually unknown and it therefore warrants further research

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25

Recent genome-wide association studies (GWAS) and subsequent meta-analyses have identified over 25 SNPs at 18 loci, together accounting for >15% of the genetic susceptibility to testicular germ cell tumour (TGCT). To identify further common SNPs associated with TGCT, here we report a three-stage experiment, involving 4098 cases and 18 972 controls. Stage 1 comprised previously published GWAS analysis of 307 291 SNPs in 986 cases and 4946 controls. In Stage 2, we used previously published customised Illumina iSelect genotyping array (iCOGs) data across 694 SNPs in 1064 cases and 10 082 controls. Here, we report new genotyping of eight SNPs showing some evidence of association in combined analysis of Stage 1 and Stage 2 in an additional 2048 cases of TGCT and 3944 controls (Stage 3). Through fixed-effects meta-analysis across three stages, we identified a novel locus at 3q25.31 (rs1510272) demonstrating association with TGCT [per-allele odds ratio (OR) = 1.16, 95% confidence interval (CI) = 1.06-1.27; P = 1.2 × 10-9]

Oncological outcome of malignant colonic obstruction in the Dutch Stent-In 2 trial

Cellular mechanisms in basic and clinical gastroenterology and hepatolog

The 70-gene expression profile, Mammaprint, for breast cancer patients in mainly European hospitals

The 70-gene profile MammaPrint was established as a powerful predictor of disease outcome in breast cancer. The St Gallen 2009 recommendations include gene-expression signatures as an indicator for adjuvant therapy. Here we determined in an international cohort how MammaPrint could assist in patient management. Fresh tumor samples (n = 877) from breast cancer patients (T1\u20134N0\u20131M0) were collected from 23 hospitals in Europe, 2 in New Zealand and 1 in Japan between 2007 and 2010 by core needle biopsy or from a surgical specimen (study protocol MP090). We assessed agreement between the treatment advice as recommended by the 2009 St Gallen Highlights and classification according to MammaPrint.For the majority (93%) of these 877 breast cancer patients from international hospitals the St Gallen 2009 either recommends or suggests considering treatment with cytotoxic adjuvant therapy for whom MammaPrint indicates a low risk of recurrence in 38% of cases