A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.

BACKGROUND: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss-of-function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant overlap between these three phenotype groups. CASE PRESENTATION: We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation.

Pancreatoduodenectomy for Malignant Solid Pseudopapillary Neoplasm in a Patient with Chronic Calcifying Pancreatitis, Rheumatoid Polyarthritis and Kidney Stones.

We present the case of a patient with rheumatoid polyarthritis treated in our department, with a long history of chronic calcifying pancreatitis which was incidentaly diagnosed during a renal colic with a pancreatic tumor. Pancreatoduodenectomy with lateral superior mesenteric vein resection was performed, the final pathological examination revealed a malignant solid pseudopapillary neoplasm with a positive lymph node. Clinical, surgical, pathological and a review of the literature are presented.

New approach for hepatocellular carcinoma treatment.

Hepatocellular carcinoma (HCC) is the fifth most common cancer, with an increasing incidence in recent years. The prognosis is unfavorable, representing the third most frequent cause of cancer-related death worldwide. This is because it generally develops in patients with pre-existing liver pathology, thus limiting therapeutic options. The role of ablative therapies is well-established in nodules smaller than 3 cm, but for nodules from 3 to 5 cm, the best therapeutic management is not well defined. Recent studies reported that combining minimally invasive procedures like transarterial chemoembolization (TACE) with microwave ablation (MWA) or radiofrequency ablation is superior to each alone. However, there is no consensus regarding the timing and the order in which each procedure should be performed. We report a case of an 86 years old male with HCV-related compensated hepatic cirrhosis and multiple cardiac comorbidities diagnosed with a 47/50 mm HCC. Pre-surgical evaluation of the associated pathologies determined that the risk for the surgical approach outweighs the benefits, so the committee decided to treat it in a less invasive manner. We performed MWA and TACE in a single session with technical success according to the modified Response Evaluation Criteria in Solid Tumors (m-RECIST). This case illustrates the first case of simultaneous MWA and TACE performed in our center. This new approach of hepatocellular carcinoma appears to be a good alternative to more invasive methods, with good results even in older people that are unfit for surgery.

A Single Center Experience in Liver Resection and Ablative Techniques: An Analysis of Six Years.

Introduction: We present our 6-year experience with liver surgery and ablative techniques. Method: An observational retrospective analysis from a prospectively maintained database was performed in our department. All the patients with liver resection, liver resection combined with intraoperative ablative techniques and percutaneous ablative techniques were included from January 1st 2014 to December 31st 2020. Results: There were 249 patients analyzed: 273 patients with liver resection, 12 patients with liver resection combined with intraoperative MWA, 9 patients with open surgery MWA, 12 patients with percutaneous MWA, 1 patient with TACE and MWA, 1 patient with TACE and PEI, 10 patients with TACE, and 2 patients with PEI. Conclusion: Liver disease should be managed in specialized centers which can offer a wide range of therapeutic options. With the improvement of the surgical technique and perioperative care, including optimized postoperative complication management, and carried out by well-trained surgeons, liver surgery can be performed with low mortality and acceptable morbidity.

Pancreatic Fistula after D1+/D2 Radical Gastrectomy according to the Updated International Study Group of Pancreatic Surgery Criteria: Risk Factors and Clinical Consequences. Experience of Surgeons with High Caseloads in a Single Surgical Center in Eastern Europe.

PURPOSE: Incidence, risk factors, and clinical consequences of pancreatic fistula (POPF) after D1+/D2 radical gastrectomy have not been well investigated in Western patients, particularly those from Eastern Europe. MATERIALS AND METHODS: A total of 358 D1+/D2 radical gastrectomies were performed by surgeons with high caseloads in a single surgical center from 2002 to 2017. A retrospective analysis of data that were prospectively gathered in an electronic database was performed. POPF was defined and graded according to the International Study Group for Pancreatic Surgery (ISGPS) criteria. Uni- and multivariate analyses were performed to identify potential predictors of POPF. Additionally, the impact of POPF on early complications and long-term outcomes were investigated. RESULTS: POPF was observed in 20 patients (5.6%), according to the updated ISGPS grading system. Cardiovascular comorbidities emerged as the single independent predictor of POPF formation (risk ratio, 3.051; 95% confidence interval, 1.161-8.019; P=0.024). POPF occurrence was associated with statistically significant increased rates of postoperative hemorrhage requiring re-laparotomy (P=0.029), anastomotic leak (P=0.002), 90-day mortality (P=0.036), and prolonged hospital stay (P<0.001). The long-term survival of patients with gastric adenocarcinoma was not affected by POPF (P=0.661). CONCLUSIONS: In this large series of Eastern European patients, the clinically relevant rate of POPF after D1+/D2 radical gastrectomy was low. The presence of co-existing cardiovascular disease favored the occurrence of POPF and was associated with an increased risk of postoperative bleeding, anastomotic leak, 90-day mortality, and prolonged hospital stay. POPF was not found to affect the long-term survival of patients with gastric adenocarcinoma.

Management of Diagnosis and Treatment in a Case of Fibrolamellar Carcinoma.

Background/Aim: Fibrolamellar carcinoma is a rare primary hepatic malignancy that has recently been recognized as a distinct clinical entity, highly different from the well-known hepatocellular carcinoma. This report describes the clinical and paraclinical aspects of the fibrolamellar carcinoma, emphasizing its particularities. Case Report: A 30-year-old patient presented to the hospital with nonspecific symptoms and weight loss, with imaging findings showing abdominal and mediastinal masses. Multiple biopsies were performed, leading to a diagnosis of metastatic fibrolamellar carcinoma. Given the extent of the disease, systemic drug treatment was administered, although prognosis was poor with tumor growth, resulting in biliary duct invasion. Conclusion: Fibrolamellar carcinoma is a rare type of malignancy, with a difficult differential diagnosis in which imaging techniques are important but for which biopsy remains the gold standard. The prognosis depends on tumor extent and may include surgical methods or chemotherapy.

Single Center Experience in Pancreatic Surgery.

Introduction: We present our department experience in pancreatic surgery over the last 6 years. From its inception the number of pancreatic resections has been continuously growing each year. Method: We performed a retrospective analysis of a prospectively maintained database where we included all the patients with pancreatic resections over the last 6 years. We present the main indication and the different types of pancreatic resections, postoperative morbidity, intrahospital and 90-day mortality and an analysis of survival for the patients with pancreatic ductal adenocarcinoma. Results: We analyzed 198 patients, 193 with pancreatic resections and 5 patients with open surgery microwave ablation. There were 145 pancreaticoduodenectomies, 37 distal pancreatectomies, one total pancreatectomy, 3 distal pancreatectomies with celiac axis resection and 7 surgical interventions for chronic pancreatitis. Conclusion: We presented our center's experience in pancreatic surgery with good overall results, however, there is still room for continuous improvement and refinements to achieve better shortterm outcomes, regarding postoperative morbidity and mortality.

Retrohepatic Gallbladder Masquerading as Hydatid Cyst in a Patient with Right Liver Agenesis.

Agenesis of the right liver is a rare congenital anomaly which can be associated with an ectopic gallbladder. Hereby, it is presented the case of a 39-year-old man investigated for right upper quadrant abdominal pain and diagnosed at computed tomography with a cystic liver mass initially considered as hydatid cyst. At laparotomy, it was discovered agenesis of the right liver and the presumed hydatid cyst was a retrohepatic gallbladder with lithiasis. Cholecystectomy was performed with an uneventful outcome. Reassessment of the computed tomography images by an experienced radiologist confirmed the intraoperative diagnosis. Although agenesis of the right liver with retrohepatic gallbladder is an exceptional appearance, surgeons should be aware of this anomaly because it can raise challenging issues of diagnosis and surgical planning during cholecystectomy.

One Hundred Pancreatectomies with Venous Resection for Pancreatic Adenocarcinoma.

Introduction: Invasion of portal vein (PV)/ superior mesenteric vein (SMV) in pancreatic ductal adenocarcinoma (PDAC) is no longer a contraindication for resection when reconstruction is technically feasible. However, the literature data reached conflicting conclusions regarding the early and long-term outcomes of patients with venous resection and pancreatectomies for PDAC. The study aims to present the outcomes in a large series of patients with pancreatectomies and associated PV/ SMV resection for PDAC, in a single center experience. Patients Methods: The data of 100 patients with pancreatectomies and PV and/ or SMV resection performed between 2002 and 2016 (February, 1st) were retrospectively analyzed from a prospectively maintained electronic database, which included 474 pancreatectomies for PDAC. Only patients with a final pathological diagnosis of PDAC were included in the present study. Results: Overall, 21.1% of patients with pancreatectomies for PDAC required a venous resection (100 patients out of 474 patients). Segmental resection was performed in 77 patients (out of 100 patients with pancreatectomies and venous resection - 77%), while 23 patients (23%) have had tangential venous resection. In the group of patients with segmental venous resection, reconstruction was made by end-to-end anastomosis in 53 patients (out of 77 patients - 68.8%), while in 24 patients (out of 77 patients - 31.2%) a graft interposition was necessary. Negative resections margins were obtained in 63 patients (63%). Histological tumor invasion of the resected vein was confirmed in 64 patients (64%). Postoperative complications occurred in 47 patients (47%), with severe complications (i.e., Dindo-Clavien grade III-V) in 19 patients (19%). Postoperative pancreatic fistulae, delayed gastric emptying and post-pancreatectomy hemorrhage rates were 9%, 20% and 15%, respectively. PV/ SMV thrombosis occurred in 5 patients (5%). The 90-day mortality rate in the group of patients with venous only resection, without any associated procedures, was 8%. Adjuvant treatment was performed in 63 patients (63%), while only 2 patients (2%) underwent neoadjuvant chemotherapy. Median follow-up time was 105 months (range, 3 - 186 months), with a median overall survival time of 13 months (range, 3 - 186 months). In the group of patients with negative resection margins, the median overall survival time was 16 months (range, 3 - 186 months). Conclusions: PV/ SMV resection during pancreatectomies for PDAC is technically feasible, and grafts are rarely required for venous reconstruction. However, venous resection is associated with high postoperative complications rates, and the mortality rate is not neglectable. The main goal of such complex procedure is to obtain negative resection margins, a situation associated with encouraging survival rates.

Gastric Cancer, Hemophilia A and Angiodysplasia - An Unreported Association with Clinical Implications in a Patient with Digestive Hemorrhage.

Introduction: Gastric cancer is a rare cause of upper digestive hemorrhage. Associated co-morbidities may have a detrimental effect on both early and long-term outcomes after surgery for gastric cancer. Association of gastric adenocarcinoma with hemophilia A and angiodysplasia was not previously reported, and the impact on postoperative outcome is not known. Case Report: A 49-year-old male with inherited hemophilia A presented with upper digestive hemorrhage and severe anemia, and was diagnosed with gastric carcinoma. The patient underwent total gastrectomy with splenectomy and D2 lymph nodes dissection. The postoperative outcome was complicated by digestive hemorrhage due to the presence of lesions of angiodysplasia of the cecum and jejunum that were successfully treated with coils mounted by the interventional radiologic approach. During the pre and postoperative periods, the patient received human coagulation factor VIII and developed auto-antibodies against factor VIII. Thus, human coagulation factor VIII administration was stopped and replaced with factor eight inhibitor bypassing activity (FEIBA). The patient was discharged at home on postoperative day 41, without any signs of bleeding. Conclusion: To the best of our knowledge, this is the first reported association of gastric adenocarcinoma, hemophilia A and angiodysplasia. All these lesions may lead to digestive hemorrhage and can pose very difficult problems of decision for diagnosis and therapy. A multidisciplinary approach including hematologist, surgeon, anesthesiologist, endoscopist and the interventional radiologist is mandatory to have a proper diagnosis and management for these patients.

Simultaneous Breast and Liver Surgery in a Patient with Stage IV Triple Positive Breast Cancer - A Case Report.

Introduction: In the modern context of multimodal treatment strategies for cancer patients with systemic disease, the dogma that surgery has a limited role is becoming less and less valid. Although a "œcurative" approach is not possible for the majority of the cases, however, some patients with limited systemic disease and favorable tumor biology could benefit from an aggressive combined cytotoxic and surgical strategy. CASE REPORT: A 48-year-old patient was diagnosed with an invasive ductal carcinoma with the immunohistochemistry positive for estrogen and progesterone receptors, positive Her2 and three liver metastases. After nine cycles of chemotherapy, a favorable tumor response was identified at the level of the primary tumor as well as for the liver lesions: two of the metastases have disappeared, and the third one decreased in dimensions. The patient was operated in our unit, a lumpectomy together with a level II axillary lymph nodes dissection and a non-anatomic resection of the segment V of the liver was performed. Conclusions: A subgroup of patients with stage IV breast cancer with limited liver metastases and no extrahepatic disease might benefit from an aggressive combined cytotoxic and surgical strategy regarding disease control and overall survival.