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1.
Mol Cell Probes ; 67: 101888, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36513244

RESUMO

Recently, liquid biopsy, as a promising approach was introduced for the analysis of different tumor-derived circulating markers including tumor DNA and cell free DNA (ct/cfDNA). Identification of mutations in cfDNA may allow the early detection of tumors, as well as predicting and monitoring treatment responses in a minimally invasive way. In the present study, we used commercially available gene panels to verify the mutation overlap between liquid biopsy and abnormalities detected in colorectal tumor tissue. The two panels (Archer®VariantPlex®Solid Tumor and LIQUIDPlexTM ctDNA) overlap in 23 genes, which enables a comprehensive view of tumor-plasma mutational status by next generation sequencing. We successfully analyzed 16 plasma and 16 tumor samples. We found that 87% of tumor tissues contained 44 mutations in 12 genes and 43.8% of cfDNA harbored 13 mutations in 5 genes. To verify whether the mutation pattern of the tumor DNA could be consistently detected in plasma cfDNA, we compared the alterations between cfDNA and matched tissue DNA in nine patients. Six of the 9 tumor tissues harbored mutations in TP53, KRAS or MET genes, those were not detectable by the ctDNA kit, even eventhough the exons of these genes overlap in both panels. Comparing the mutational patterns of the matched samples, we found that only one cfDNA had the same mutations (KRAS, SMAD4 and TP53) in the paired tissue. The results of the comparison between tumor tissue DNA and matched plasma cfDNA underline the importance of studying the paired solid tumor and plasma samples together.


Assuntos
Ácidos Nucleicos Livres , DNA Tumoral Circulante , Neoplasias Colorretais , Humanos , DNA Tumoral Circulante/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Mutação , Biópsia Líquida , Neoplasias Colorretais/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Biomarcadores Tumorais/genética
2.
Interv Med Appl Sci ; 11(1): 74-76, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32148908

RESUMO

Primary pancreatic hydatid disease is extremely rare. Diagnosis of the disease is difficult because hydatid cysts can be confused with a pseudocyst or neoplastic cystic diseases. Authors report a case of a surgically treated hydatid disease of the uncinate process of pancreas. In a 34-year-old patient with minor symptoms, a cystic disease of the pancreas was accidentally identified. CT scan revealed a multivesicular cystic mass with a maximum of 13-cm diameter and with a calcificated wall. During laparotomy, the uncinate process of pancreas was resecated and the cystic lesion was enucleated. Patient was recovered without complications and recurrence of the disease. There must be a suspicion of hydatid disease when cysts are identified in good conditioned, asymptomatic patients, or in case of wall calcification or multivesicular cysts revealed by radiological images. Surgical procedures are recommended in uncertain diagnoses too, because differentiation preoperatively between cystic pancreatic lesions is often impossible.

3.
Int J Surg Case Rep ; 30: 126-129, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28012327

RESUMO

INTRODUCTION: Double-layer dermal grafts are used for the management of complicated abdominal wall hernias in obese, high risk patients. The method has not yet been used in case of emergency in septic/dirty environment. CASE REPORT: A 76-year old female patient (BMI 36.7kg/m2) was admitted with mechanical bowel obstruction and sepsis caused by a third time recurred, incarcerated and eventrated abdominal wall hernia. During the emergency surgery perforation of the terminal ileum and the ascending colon was detected, along with a feculent peritonitis and extended abdominal wall necrosis. Extended right hemicolectomy and necrectomy of the abdominal wall were performed. The surgery resulted in an abdominal wall defect measuring 223cm2, for the management of which direct closure was not possible. Using a specific method, an autologous dermal graft was prepared from the redundant skin. The first dermal graft was placed under the abdominal wall with 5cm overlap, and the second layer was placed onto the first layer with 3cm overlap in a perforated fashion. The operating time was 250min. No significant intra-abdominal pressure elevation was measured. No reoperation was performed. On the fifth postoperative day, the patient was mobilised. She was discharged in satisfactory general condition on the 18th postoperative day. There is no recurrent hernia 8 months after the surgery. DISCUSSION: Abdominal wall reconstruction was possible in a necrotic, purulent environment by using a de-epithelised autologous double layer dermal graft, without synthetic or biological graft implantation. The advantage of the procedure was cost-effectivity, and the disadvantage was that only in an obese patient is the sufficient quantity of dermal graft available. CONCLUSION: A homogeneous internal and perforated outer dermal graft was suitable for bridging the abdominal gap in the case of an obese, high risk patient. Autologous dermal grafts can be a safe and feasible alternative to biological meshes in emergency abdominal wall surgeries. Evaluation of a case series can be the next cornerstone of the method described above.

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