ABSTRACT
BRAF mutations occur in about 3% of all lung adenocarcinomas and V600E missense mutation characterizes about half of BRAF-mutated lung adenocarcinomas and is significantly associated with micropapillary pattern and shorter disease-free and overall survival rates. In this report, we report a challenging case of a patient with a metastatic micropapillary adenocarcinoma of the lung harbouring V600E BRAF mutation who experienced a surprising protracted clinical response to metronomic vinorelbine. The possible association between the V600E BRAF mutation pathway and the effective use of vinca alkaloid is discussed.
Subject(s)
Adenocarcinoma of Lung/diagnosis , Breast Neoplasms/diagnosis , Lung Neoplasms/diagnosis , Proto-Oncogene Proteins B-raf/genetics , Adenocarcinoma of Lung/genetics , Adenocarcinoma of Lung/secondary , Aged, 80 and over , Antineoplastic Agents, Phytogenic/pharmacology , Breast/pathology , Breast Neoplasms/genetics , Breast Neoplasms/secondary , Female , Humans , Lung Neoplasms/genetics , Lung Neoplasms/pathology , Mutation, Missense , Neoplasm Metastasis , Vinorelbine/pharmacologyABSTRACT
Protected designation of origin dry-cured hams are the most important productions of the Italian heavy pig industry. Hams capable of minimal seasoning losses produce better quality dry-cured hams. Ham weight loss during the first 7 days in brine (first salting) is highly correlated with the total loss of weight up to the end of seasoning, and it has quite high heritability (0.30-0.61). For these reasons, ham weight loss at first salting has been included as a meat quality trait in the Italian heavy pig selection program. In this work, we carried out a genome-wide association study for this parameter in the Italian Large White pig breed by genotyping 1365 animals with the Illumina BeadChip PorcineSNP60 chip. A total of 44 single nucleotide polymorphisms (SNPs) had a Pnominal value below 5.0E-04, five of which were below 5.0E-05 and one of them (ALGA0057985 on chromosome 10) was associated with this trait at a PBonferroni threshold of 0.10. These SNPs identified a total of at least 29 putative QTLs that were located on most porcine autosomal chromosomes. This study provides genomic information that could be useful in dissecting this complex trait by identifying potential candidate genes whose function could contribute to understanding the biological mechanisms affecting meat quality for seasoning aptitude.
Subject(s)
Food Handling , Polymorphism, Single Nucleotide , Red Meat/analysis , Sus scrofa/genetics , Animals , Breeding , Female , Genetic Association Studies , Genotype , Male , Phenotype , Quantitative Trait Loci , Sodium Chloride, DietaryABSTRACT
The combination of preoperative lymphatic mapping with intra-operative probe detection is becoming the standard procedure for identifying tumour lymphatic spread at the time of initial treatment in breast cancer. There are a number of identification techniques for sentinel lymph nodes, but the concordance of the results of a sentinel lymph node biopsy with axillary lymph node dissection did not vary significantly among them. Periareolar (p.a.) injection of tracer is a new procedure specifically studied to overcome some limitations of other techniques; in two groups of patients with early breast cancer we compared the periareolar with the subdermal technique. One hundred and fifty biopsy proven breast cancer patients were consecutively enrolled in this study. This population was divided into two groups: (1) group A, including 100 cancers; lymphatic mapping was performed by s.d. injection of both blue dye and radiotracer; and (2) group B, including 50 cancers; lymphatic mapping was performed with a combination of blue dye injected p.a. and radiotracer injected s.d. For group A, with both techniques we identified one or more SLNs in 100/100 tumours; blue dye detected the SLNs in 99/100 cancers (99%), lymphoscintigraphy in 93/100 cancers (93%). The concordance rate was 92%. For group B, with both techniques we identified one or more SLNs in 49/50 cancers (98%); blue dye detected the SLNs in 48/50, lymphoscintigraphy in 46/50 cancers (92%). The concordance rate was 92%. In the present study p.a. and s.d. injection of blue dye give similar and comparable results. The periareolar technique is simpler and has several advantages over the subdermal technique.
Subject(s)
Breast Neoplasms/diagnostic imaging , Breast Neoplasms/pathology , Injections/methods , Lymph Nodes/diagnostic imaging , Lymph Nodes/pathology , Sentinel Lymph Node Biopsy/methods , Technetium Tc 99m Aggregated Albumin , Administration, Cutaneous , Axilla , Female , Humans , Lymphatic Metastasis , Middle Aged , Neoplasm Staging/methods , Nipples , Radionuclide Imaging , Radiopharmaceuticals , Reproducibility of Results , Rosaniline Dyes/administration & dosage , Sensitivity and SpecificityABSTRACT
Genes coding for sarcomeric proteins may play a key role in muscle mass accretion and meat production. Screening a skeletal muscle cDNA library we isolated two partial sequences coding for the sarcomeric myopalladin and titin genes. In the present work we identified three SNPs in the 3' untranslated region, two at the myopalladin locus and one at the titin locus. Myopalladin was mapped on porcine chromosome (SSC) 14 using a somatic cell hybrid panel, a radiation hybrid panel and by linkage mapping. The linkage mapping of titin confirmed the position on SSC15. Then we analysed the allelic distribution of the alleles at both loci in six different porcine breeds. The analysis of the allele frequencies for these two loci in extremely divergent groups of pigs selected according to lean cuts (LC) and average daily gain (ADG) approached the significance level for myopalladin and LC trait. Further studies are needed to test the presence of a putative effect of myopalladin on lean meat content.
