Clinicopathological characteristics, management and outcome of metastatic penoscrotal extramammary Paget's disease.

BACKGROUND: Metastatic penoscrotal extramammary Paget's disease (EMPD) has seldom been reported in the literature. OBJECTIVES: To improve the knowledge of the clinicopathological characteristics, management and outcome in patients with this disease. METHODS: The medical records and pathological slides of 10 patients with metastatic EMPD and 33 patients with nonmetastatic disease were reviewed. Immunohistochemical staining for epithelial cadherin (E-cadherin) was performed in the primary skin disease. All the 10 patients received 5-fluorouracil- or docetaxel-based chemotherapy. RESULTS: The most common sites of metastases were lymph nodes followed by bone. Patients with metastatic EMPD were more likely to be young and had elevated carcinoembryonic antigen (CEA) levels. Dermal or deeper invasion, lymphovascular embolization and negative expression of E-cadherin were important pathological predictors of metastatic potential. In invasive EMPD, lymphovascular embolization but not expression of E-cadherin was significantly associated with the risk of metastases. In three patients, (18)F-fluorodeoxyglucose positron emission tomography (PET)-computed tomography (CT) scans revealed occult lymph node metastases which were overlooked at conventional CT examinations. Two patients had complete response to the chemotherapy, three had partial response and five had progressive disease. The 2-year overall survival rate was 48% in patients with metastatic EMPD. In those patients with significantly elevated CEA level, the value of CEA paralleled the disease course. CONCLUSIONS: Metastatic EMPD tended to have dermal invasion and lymphovascular embolization. PET-CT scans were helpful in detecting distant metastases. 5-Fluorouracil- or docetaxel based-chemotherapy was effective in some patients. Serum CEA level can be a useful biomarker for monitoring disease course.

A genome-wide scan reveals candidate susceptibility loci for pig hernias in an intercross between White Duroc and Erhualian.

Pig scrotal/inguinal and umbilical hernias are the most prevalent congenital disorders in pigs and often cause animal welfare problems and economic loss. To identify susceptibility loci for these traits, a genome-wide scan with 194 microsatellite markers covering the pig genome was performed in a White Duroc x Erhualian resource population with 23 scrotal/inguinal F(2) animals, 50 umbilical F(2) animals, and their unaffected siblings. A sex-average linkage map with a total length of 2,350.3 cM and an average marker interval of 12.84 cM was constructed. Both nonparametric genome-wide linkage (NPL) analysis and transmission disequilibrium test (TDT) were implemented to detect closely linked markers. The NPL analysis revealed 11 chromosomal regions on SSC1, 2, 3, 6, 7, 8, 10, and 11 for umbilical hernia and 5 regions on SSC2, 4, 8, 13, and 16 for scrotal/inguinal hernia, whereas the TDT test identified susceptibility loci for umbilical hernia on SSC1, 2, 4, 7, 10, 13, 14, and 15 and for scrotal/inguinal hernias on SSC2, 8, 10, and 18. The most promising loci were SWR1928 on SSC7 and SW830 on SSC10 for umbilical hernia, and SW933 on SSC8 for scrotal hernia, which were consistently detected by both NPL and TDT. Several previously reported chromosomal regions for scrotal/inguinal hernia were confirmed, and new evidence for linkage with this pig defect was found. Moreover, susceptibility loci for pig umbilical hernia were detected for the first time.

A whole genome scan for quantitative trait loci for leg weakness and its related traits in a large F2 intercross population between White Duroc and Erhualian.

To detect QTL for leg weakness and its related traits in pigs, a total of 1,484 F(2) pigs were recorded for leg (at 76 and 213 d) and gait scores (at 153 and 223 d) in a White Duroc x Erhualian intercross. The length and weight of the biceps brachii muscle were measured after slaughter at 240 d. A genome scan was performed with 183 microsatellite markers in the population. A total of 42 QTL were detected, including 16 at the 1% genome-wide significant level and 6 at the 5% genome-wide significant level. Thirty-eight of the 42 QTL showed significant additive effects, and 14 had significant dominance effects. At least 2 QTL were detected for each trait except for leg score at 76 d, for which no QTL was identified. Some of the QTL for leg and gait scores confirmed previous findings. Eighteen QTL were detected for weight and length of the biceps brachii muscle. To our knowledge, this was the first report about QTL for weight and length of the biceps brachii muscle in pigs. Two chromosome regions each on SSC4 and SSC7 showed significant and multiple associations with both leg weakness and growth of the biceps brachii muscle, which are worthwhile for further investigation.

A genome scan for quantitative trait loci affecting male reproductive traits in a White Duroc x Chinese Erhualian resource population.

Chinese Erhualian boars have dramatically smaller testes, greater concentrations of circulating androgens, and fewer Sertoli cells than Western commercial breeds. To identify QTL for boar reproductive traits, testicular weight, epididymal weight, seminiferous tubular diameter at 90 and 300 d, and serum testosterone concentration at 300 d were measured in 347 F(2) boars from a White Duroc x Chinese Erhualian cross. A whole genome scan was performed with 183 microsatellites covering 19 porcine chromosomes. A total of 16 QTL were identified on 9 chromosomes, including 1% genome-wide significant QTL for testicular weight at 90 and 300 d and seminiferous tubular diameter at 90 d on SSCX, and for epididymal weight and testosterone concentration at 300 d on SSC7. Two 5% genome-wide significant QTL were detected for testicular weight at 300 d on SSC1 and seminiferous tubular diameter at 300 d on SSC16. Nine suggestive QTL were found on SSC1, 2, 3, 5, 7, 13, and 14. Chinese Erhualian alleles were not systematically favorable for greater reproductive performance. This study confirmed the previous significant QTL for testicular weight on SSCX and for epididymal weight on SSC7, and reported QTL for seminiferous tubular diameter and testosterone concentration at the first time. The observed different QTL for the same trait at different ages reflect the involvement of distinct genes in the development of male reproductive traits.