Risk stratification in GIST: shape quantification with CT is a predictive factor.

Background: Tumor shape is strongly associated with some tumor's genomic subtypes and patient outcomes. Our purpose is to find the relationship between risk stratification and the shape of GISTs.

Methods: A total of 101 patients with primary GISTs were confirmed by pathology and immunohistochemistry and underwent enhanced CT examination.

Malignant jejunal gastrointestinal stromal tumor with history of prostate cancer: A case report.

Rationale: The problem of the coexistence of gastrointestinal stromal tumor (GIST) with other neoplasms is complex, and carcinomas of prostate is one of the common types of GIST-associated cancers. Doubling time of GIST is about 3.9 months for high-risk GIST, and the treatment paradigm for GIST has required the integration of surgery and molecular therapy.

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

Disseminated superficial actinic porokeratosis (DSAP) is an autosomal dominantly inherited epidermal keratinization disorder whose etiology remains unclear. We performed exome sequencing in one unaffected and two affected individuals from a DSAP family. The mevalonate kinase gene (MVK) emerged as the only candidate gene located in previously defined linkage regions after filtering against existing SNP databases, eight HapMap exomes and 1000 Genomes Project data and taking into consideration the functional implications of the mutations.

Association between alcohol, smoking and HLA-DQA1*0201 genotype in psoriasis.

Psoriasis is a chronic skin disease triggered by genetic, environment or other risk factors such as infection, drugs, stress, moisture, alcohol, and smoking. A major psoriasis susceptibility locus at 6p21.3 has been identified.

Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21.

Punctate palmoplantar keratodermas (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules that are irregularly distributed on the palms and soles. The genetic basis for this disease is unknown. We performed a genome-wide search in two Chinese families with punctate PPK to map the chromosome location of the responsible gene.

Association of HLA class I alleles with psoriasis vulgaris in southeastern Chinese Hans.

Background: Predisposing genetic factors in psoriasis include associations with human leukocyte antigen (HLA). Accumulative evidence has shown that certain HLA at class I locus, especially HLA-Cw6, are associated closely with psoriasis.

Objective: To evaluate the association of HLA class I alleles with susceptibility to psoriasis in the southeastern Chinese Han population.

Evidence for a major psoriasis susceptibility locus at 6p21(PSORS1) and a novel candidate region at 4q31 by genome-wide scan in Chinese hans.

Psoriasis is a heterogeneous disease with seven major psoriasis susceptibility loci reported so far on chromosomes 1p, 1q, 3q, 4q, 6p, 17q, and 19p, respectively. To investigate the psoriasis susceptibility loci in Chinese Hans, a genome-wide scan was performed with two-point and multipoint parametric and nonparametric linkage analyses in 61 multiplex families. These families were Chinese Hans residing in east and south-east China, comprising 189 affected and 166 unaffected individuals.