Role of endoscopic ultrasound-guided fine-needle aspiration in the diagnosis and classification of lymphomas.

BACKGROUND: endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) is a safe and effective technique in the diagnosis of mediastinal and abdominal masses. However, the usefulness of EUS-FNA in the diagnosis and classification of lymphomas is controversial. The aim of this study was to determine the yield of EUS-FNA in the diagnosis and classification of lymphomas. METHODS: a retrospective case series was performed in a tertiary referral center. All consecutive patients referred for EUS-FNA with a suspected diagnosis of lymphoma from March 2013 to June 2019 were included. RESULTS: thirty-five patients (54.3 % women, median age 72 years) were included. The most frequent location of the node was the abdomen (67.9 %). Nodes were punctured using a 22-gauge (85.7 %) and 19-gauge needle (14.3 %) with a slow-pull technique. The number of passes performed were three or more in 82.9 % of patients. The samples were processed by the cellblock method. Adequate samples for immunohistochemical and molecular biological study were obtained in 33 (94.3 %) patients. EUS-FNA correctly diagnosed lymphoma in 30 out of 35 patients (85.7 %), and subclassification was determined in 23 patients (65.7 %). The most frequent diagnosis was non-Hodgkin lymphoma (85.7 %). There was one moderate adverse event (bleeding), which was resolved during the procedure. CONCLUSIONS: EUS-FNA may be a valuable technique in the evaluation of suspected lymphomas with an adequate diagnostic yield and a very low rate of adverse events.

Endoscopic ultrasound-guided fine-needle aspiration of renal lesions: experience in a tertiary center.

INTRODUCTION: endoscopic ultrasound (EUS) allows the histological diagnosis of radiologically undetermined renal lesions, although few series have been described. OBJECTIVES: to describe the procedure, yield and complications of EUS-guided renal fine-needle aspiration (FNA). MATERIAL AND METHODS: a retrospective case series in a prospective database was used that consecutively included EUS procedures from March 2014 to August 2018. Data on complications, outcome and follow-up were collected. A successful FNA was defined as any FNA that allowed a histological diagnosis. Lesions were considered as malignant when surgically confirmed as such (the histological diagnosis was used for non-surgical patients) and benign when radiographically stable for ≥ 12 months. RESULTS: eight patients were identified with a median age of 61.6 years (57.3-71.9), and five (62.5 %) were female. Five FNA procedures involved the right kidney and three involved the left kidney. 22G cytology needles were used. Renal FNA was diagnostic in all cases, with no complications. CONCLUSIONS: EUS-guided FNA may represent an effective, safe procedure for the diagnosis of renal lesions of an uncertain origin.

Endoscopic ultrasound-guided fine-needle aspiration for splenomegaly and focal splenic lesion: is it safe, effective and necessary?

INTRODUCTION: splenomegaly and/or focal splenic lesions (FSL) have limited histopathologic studies due to the risk posed by splenic punctures. Percutaneous biopsies with a fine needle are difficult, especially due to interposition of gases, ascites, obesity or a history of abdominal surgery. On the other hand, endoscopic ultrasound (EUS) takes advantage of the proximity of the gastric wall to the spleen in order to puncture and visualize the needle and its movements in real time. OBJECTIVE: to describe the initial experience and results obtained with EUS-FNA in patients with splenomegaly or FSL. MATERIALS AND METHODS: this was a descriptive observational study. EUS-FNA of the spleen was performed with a slow-pull technique, which avoided fanning with an average of 3 needle passes. Biopsies were sent in Cytorich RedTM solution for analysis by cytology and cell block. RESULTS: punctures were performed in 15 patients (9 females) and the median age was 67 years (range 44-86). Patients studied due to an enlarged spleen or splenic FSL, in the context of fever of an unknown origin, adenopathies and abnormal weight loss were included. A conclusive diagnosis was achieved by EUS-FNA in 10 patients (66.7 %), 4 were large cell type B non-Hodgkin's lymphoma and one Hodgkin's lymphoma. There were no immediate or delayed complications related to the procedure. CONCLUSIONS: EUS-guided splenic punctures appear to be safe, effective and may be necessary in some clinical settings in order to complete the etiologic filiation of splenomegaly of an uncertain origin or FSL and to rule out malignancy.

Genetic variation analysis in a follow-up study of gastric cancer precursor lesions confirms the association of MUC2 variants with the evolution of the lesions and identifies a significant association with NFKB1 and CD14.

Gastric carcinogenesis proceeds through a series of gastric cancer precursor lesions (GCPLs) leading to gastric cancer (GC) development. Although Helicobacter pylori infection initiates this process, genetic factors also play a role. We previously reported that genetic variability in MUC2 is associated with the evolution of GCPLs. In order to replicate previous results in an independent sample series and to explore whether genetic variability in other candidate genes plays a role in the evolution of GCPL, genomic DNA from 559 patients with GCPLs, recruited from 9 Spanish hospitals and followed for a mean of 12 years, was genotyped for 141 SNPs in 29 genes. After follow-up, 45.5% of the lesions remained stable, 37% regressed and 17.5% progressed to a more severe lesion. Genetic association with the evolution of the lesions (progression or regression) was analyzed by multinomial and binomial logistic regression. After correction for multiple comparisons, the results obtained confirmed the inverse association between MUC2 variants and the regression of the lesions. A significant association was also observed between NFKB1 and CD14 variants and the evolution of the lesions; interestingly, this association was with both progression and regression in the same direction, which could reflect the dual role of inflammation in cancer. Stratified analyses according to H. pylori virulence factors indicated some significant and differential effects but none of them passed the FDR test. These results confirm that genetic variability in MUC2, NFKB1 and CD14 may have a role in the evolution of the GCPLs along time and in gastric carcinogenesis.

Endoscopic ultrasound-guided fine-needle biopsy in patients with unexplained diffuse gastrointestinal wall thickening.

Background and study aims Endoscopic ultrasound-guided fine needle biopsy (EUS-FNB) is recommended after non-diagnostic biopsy in gastrointestinal wall thickening, although the performance of currently available FNB needles in this setting is unknown. We aimed to assess the diagnostic accuracy and safety of EUS-FNB and to evaluate the "T" wall staging in malignant pathology. Patients and methods This was a single center retrospective study that included all consecutive patients undergoing EUS-FNB for diffuse gastrointestinal wall thickening with at least one previous negative conventional endoscopic biopsy between January 2016 and November 2019. EUS-FNB was performed using linear-array echoendoscopes with slow-pull/fanning technique. Tissue acquisition was done with 19- or 22-gauge biopsy needles. Samples were included in formalin without rapid on-site evaluation and submitted for histopathological processing. The final diagnosis was based on conclusive histology or absence of evidence of disease progression after follow-up at least 6 months. Results Twenty-nine patients (21 men), with a median age of 68 (IQR: 56-77), were included. EUS-FNB was technically feasible and the sample quality was adequate for full histological assessment in all patients (100 %). Sensitivity, specificity, positive and negative predictive values, and overall accuracy for diagnosis of malignancy were 95.5 %, 100 %, 100 %, 83.3 %, and 96.3 %, respectively. In patients with malignant disease, the samples obtained allowed detection of signs of deep layer infiltration ("histological staging") in 17 of 21 cases (81 %). No adverse events were noted. Conclusions The EUS-FNB technique demonstrated excellent diagnostic performance and safety in the study of unexplained diffuse gastrointestinal wall thickening. Histological staging was obtained in a high percentage of samples.

SDHC mutation in an elderly patient without familial antecedents.

Head and neck paragangliomas are usually asymptomatic and benign tumours arising mainly from the carotid body and the vagal, tympanic or jugular glomus. The majority of patients develop sporadic masses, and around 30% of cases harbour germline mutations in one of the succinate dehydrogenase genes: SDHB, SDHC or SDHD. In these hereditary cases, the presence of familial antecedents of the disease, multiplicity/bilaterality, young age at onset, and more recently, presence of gastrointestinal stromal tumours, are main factors to be considered. Here we describe a new mutation (c.256-257insTTT) affecting the SDHC gene in a 60-year-old-patient with a single head and neck paraganglioma, and without familial antecedents of the disease. In silico splice site analysis showed that this variant created a cryptic splice acceptor site and loss of heterozygosity (LOH) supported the pathogenic role of the mutation. Control population analyses did not detect this variant but revealed a novel SDHC polymorphism that exhibited a frequency of 0.3% (3/1020). This latter finding highlights the importance of assessing the clinical relevance of variants of unknown significance by means of analysing sufficient controls. Despite having found a germline mutation in an older, apparently sporadic patient, we consider that the high costs of analysing all susceptibility genes related to the disease support the recommendation of screening for mutations only in patients fulfilling the above criteria.

Accuracy of GastroPanel for the diagnosis of atrophic gastritis.

BACKGROUND: It has been suggested that GastroPanel might be a useful tool for the diagnosis of chronic atrophic gastritis (CAG) measuring four biomarkers in blood: basal gastrin-17 (G17), pepsinogen I and II (PGI and PGII), and Helicobacter pylori antibodies. AIM: To determine the accuracy of GastroPanel for the diagnosis of CAG. METHODS: This was a prospective, blinded, multicenter study that included dyspeptic patients. G17, PGI, and PGII were determined by enzyme immunoassays. Three antrum and two corpus biopsies were obtained for standard histological analysis and rapid urease test. Biopsies were analyzed by a single blinded expert pathologist. RESULTS: Ninety-one patients were included (77% women, mean age 44 years, 51% H. pylori positive, 17% with CAG). G17 was reduced in patients with antrum CAG (5.4 vs. 13.4 pmol/l; P<0.01) and increased in patients with corpus CAG (11 vs. 24 pmol/l; P<0.05), but its accuracy was only acceptable in the case of corpus localization [area under the receiver operating characteristic curve (AUC), 74%]; PGII difference was almost statistically significant only when testing for corpus atrophy (33 vs. 21 µg/l; P=0.05; AUC=72%). The PGI and PGI/PGII ratio showed no significant differences (AUCs were all unacceptably low). Helicobacter pylori antibody levels were higher in H. pylori-infected patients (251 vs. 109 EIU, P=0.01; AUC=70). The accuracy of GastroPanel for the diagnosis of CAG was as follows: sensitivity 50%; specificity 80%; positive 25% and negative 92% predictive values; and positive 2.4 and negative 0.6 likelihood ratios. CONCLUSION: GastroPanel is not accurate enough for the diagnosis of CAG; thus, its systematic use in clinical practice cannot be recommended.