Genetic Change

The patients with non-resectable colorectal liver metastases (CRLM) have always being considered a particular subgroup of CRLM in which the therapeutic approach, is focused on strategies that allow a potential surgery like neoadjuvant systemic treatments. But, the underlying biology that causes this particular profile of spread in a proportion of patients that always recur and progress in the liver has not been properly characterized from a biological point of view. Unfortunately, these patients finally develop liver metastasis not amenable for local treatments and become refractory to systemic treatments even without developing extrahepatic liver metastases. As a result, liver transplantation (LT) is a potential for patients without extrahepatic involvement and nonresectable CRLM. There are several studies that aims to evaluate if LT increases overall survival compared to best alternative care. To our knowledge, none of these studies incorporate objectives focused on the underlying tumor biology of this particular population and the development of focused strategies including a dynamic disease monitoring and targeted treatments for this particular population.The METLIVER trial will permit to expand the genetic studies to the whole complexity of metastatic lesions and a more precise evaluation of their genetic heterogeneity. Moreover, it will help to precise the type of genetic analyses on liquid biopsies that can be designed for patients that will unfortunately relapse mostly with lung metastases after LT. Our proposal will maximize the opportunity to produce an unprecedented knowledge on CRLM evolution and will provide new opportunities for relapsed patients.

The goal of this study is to identify the molecular or genetic mechanisms that may predispose patients with bowel endometriosis to an increased risk of colorectal carcinoma. The study will include patients for whom surgical treatment of bowel endometriosis is clinically indicated. This research would represent a significant advancement in evaluating the necessity of surgical intervention in asymptomatic patients or those with mild symptoms. Furthermore, it would provide a broader insight into the systemic impact of endometriosis on other organ systems, ultimately improving risk assessment and preventive measures.

The goal of this observational study is to investigate whether the A118G single-nucleotide polymorphism (SNP) in the mu-opioid receptor1(OPRM1) and Catechol-O-methyltransferase (COMT) SNPs influence postoperative pain scores in children between the ages of 8 and 18 undergoing orthopedic, abdominal, thoracic, and plastic surgeries. The main question\[s\] it aims to answer \[is\]: Do OPRM1 and COMT SNPs influence postoperative pain scores in children between the ages of 8 and 18 undergoing orthopedic, abdominal, thoracic, and plastic surgeries? Participants will be assessed for their pain scores, sedation level, the amount of postoperative analgesics received, duration of their stay in the post-anesthesia care unit, and toxicity.

Little is known about the evolution of genetic and epigenetic changes that occur in the progression of glioma. We inferred the evolution trajectories of matched pairs of primary tumors and progression tumor in situ fluid (TISF) based on deep whole-genome-sequencing data (ctDNA). A monocentric, Gene grouping controlled trial design was used to select patients. and to compare gene evolution of different subtypes of glioma under therapy. To predict the molecular reaction of bevacizumab treatment, clarify the mechanism of drug resistance of bevacizumab treatment.