Severo Campione

PET/MR Versus PET/CT Imaging: Impact on the Clinical Management of Small-Bowel Crohn’s Disease

BACKGROUND AND AIMS The aim of this study was to compare the accuracy and clinical impact of hybrid positron emission tomography [PET]/magnetic resonance-enterography [MR-E] and PET/computed tomography-enterography [CT-E] in patients with Crohns disease [CD]. METHODS A total of 35 patients with symptomatic small-bowel CD who were scheduled to undergo operation were evaluated before operation by same-day PET/CT-E and PET/MR-E. PET/MR-E was also compared with MR-E alone. Imaging accuracy for detecting pathological sites and discriminating between fibrotic and inflammatory strictures was assessed. Treatment was adjusted according to imaging findings and change in medical/surgical strategy was also evaluated. RESULTS PET/CT-E, PET/MR-E, and MR-E were equally accurate in detecting CD sites. PET/MR-E was more accurate in assessing extra-luminal disease [p = 0.002], which was associated with higher need for stoma [p = 0.022] and distant localisation [p = 0.002]. When the latter was observed, laparoscopy was started with hand-assisted device, reducing operative time [p = 0.022]. PET/MR-E was also more accurate in detecting a fibrotic component compared with PET/CT-E [p = 0.043] and with MR-E [p = 0.024]. Fibrosis was more frequently classified as inflammation with MR-E compared with PET/MR-E [p = 0.019]. Out of 8 patients with predominantly inflammatory CD who received medical treatment, 6 [75%] remained surgery free. Overall, 29 patients received surgery. At median follow-up of 9 [6-22] months, no recurrences occurred in either the medical or the surgical group. CONCLUSIONS Preoperative PET/MR-E imaging is highly accurate for assessing CD lesions before operation and contributed to clinical management of patients with small-bowel CD more often than PET/CT-E.

Coexistence of primary gastric giant cell-rich leiomyosarcoma and gastrointestinal stromal tumor: report of a very rare combination and review of the literature.

Leiomyosarcoma is one of the most common types of soft tissue sarcoma, usually seen in deep soft tissues of the extremities and retroperitoneum. Leiomyosarcoma primarily involving the gastrointestinal tract is uncommon. This report presents a rare case of primary gastric giant cell-rich leiomyosarcoma associated with a gastrointestinal stromal tumor of the stomach in a 51-year-old man. The patient was alive with no evidence of recurrence 10 months later. To the authors’ knowledge, this association has not been previously reported.

Pitfalls in Diagnostic Imaging of Cystic Pancreatic Masses: A Case of True Cystic Lesion Mimicking a Mucinous Cystadenoma

CONTEXT Imaging characterization is a frequent topic in diagnostic evaluation of patients with pancreatic cystic lesions. CASE REPORT We present a patient with a true pancreatic cyst with internal septation in an adult female. The presence of the internal septum should be considered in the differential diagnosis, in fact in our case CT and MR imaging findings were incorrectly suggestive of mucinous cystadenoma. CONCLUSION True pancreatic cyst may show septate architecture and thus for imaging characterization this feature should be considered in the differential diagnosis of cystic pancreatic masses.

Gastroesophageal reflux in young children and adolescents: Is there a relation between symptom severity and esophageal histological grade?

Background: The pediatric literature about the correlation between symptoms and histological lesions in patients investigated for gastroesophageal reflux disease is scarce and inconclusive. The primary aim of the present study was to assess the relation between the complained symptom severity and the esophageal histological grade, through the use of validated and reliable scores. Methods: All children ages between 2 and 17 years referred to perform upper gastrointestinal endoscopy because of gastroesophageal reflux disease symptoms were asked to complete the Pediatric Gastroesophageal Symptom and Quality of Life validated questionnaire, investigating the main symptoms complained and their impact on daily life and school activities. Esophageal mucosal samples taken during the procedure were analyzed and scored according to the Yerian‐Fiocca classification. Results: A total of 164 children were included in the study. No significant association was found between symptomatic score and histological score (rs: 0.05, P: 0.49). Even when focusing only on adolescents with heartburn or chest pain, no correlation between symptom severity and esophageal lesions was found (rs: −0.18, P: 0.264). Intercellular space diameter values did not mirror symptom severity. Conclusions: The main finding of this study on children with reflux symptoms is the lack of correlation between symptom severity and esophageal histological grade. The magnitude of intercellular spaces was found not to be related with the clinical score as well.

Intraperitoneal dedifferentiated liposarcoma showing MDM2 amplification: case report

BackgroundLiposarcoma is the most common type of soft tissue sarcoma (STS). It is divided into five groups according to histological pattern: well-differentiated, myxoid, round cell, pleomorphic, and dedifferentiated. Dedifferentiated liposarcoma most commonly occurs in the retroperitoneum, while an intraperitoneal location is extremely rare. Only seven cases have been reported in literature. Many pathologists recognize that a large number of intra-abdominal poorly differentiated sarcomas are dedifferentiated liposarcomas. We report a case initially diagnosed as undifferentiated sarcoma that was reclassified as intraperitoneal dedifferentiated liposarcoma showing an amplification of the MDM2 gene.Case presentationA 59-year-old woman with abdominal pain and constipation was referred to the Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy, in November 2012. On physical examination, a very large firm mass was palpable in the meso-hypogastrium. Computed tomography (CT) scan showed a heterogeneous density mass (measuring 10 × 19 cm) that was contiguous with the mesentery and compressed the third part of the duodenum and jejunum.At laparotomy, a large mass occupying the entire abdomen was found, adhering to the first jejunal loop and involving the mesentery. Surgical removal of the tumor along with a jejunal resection was performed because the first jejunal loop was firmly attached to the tumor.Macroscopic examination showed a solid, whitish, cerebroid, and myxoid mass, with variable hemorrhage and cystic degeneration, measuring 26 × 19 × 5 cm. Microscopic examination revealed two main different morphologic patterns: areas with spindle cells in a myxoid matrix and areas with pleomorphic cells. The case was initially diagnosed as undifferentiated pleomorphic sarcoma. Histological review showed areas of well-differentiated liposarcoma. Fluorescence in situ hybridization (FISH) analysis was performed and demonstrated an amplification of the MDM2 gene. Definitive diagnosis was intraperitoneal dedifferentiated liposarcoma.No adjuvant therapy was given, but 5 months after laparotomy, the patient presented with a locoregional recurrence and chemotherapy with high-dose ifosfamide was started.ConclusionsNo guidelines are available for the management of intraperitoneal dedifferentiated liposarcoma. We report this case to permit the collection of a larger number of cases to improve understanding and management of this tumor. Moreover, this study strongly suggests that poorly differentiated sarcomas should prompt extensive sampling to demonstrate a well-differentiated liposarcoma component and, if possible, FISH analysis.

The experience of a referral centre and literature overview of GIST and carcinoid tumours in inflammatory bowel diseases

Patients suffering from Inflammatory Bowel Diseases (IBD) are at increased risk of developing cancers of the gastrointestinal tract (GI). Adenocarcinomas are the most commonly observed GI tumours in IBD, and occur through an in inflammation-driven pathway. A trend toward reduced risk of bowel cancers has been observed in IBD in recent years, presumably related to improved medical treatments. However, some cancers may be independent from active inflammation, probably originating from altered interactions between the extremely active immune system of IBD patients and environmental factors. Data concerning gastrointestinal stromal tumours (GIST) and carcinoids tumours (CaT) of the GI in IBD patients are scanty. We report our experience with these rare cancers, and provide the readers with an overview on the topic, focussing on distinguishing and peculiar features of GIST and CaT of the GI in IBD compared with other cancer types and with general population, and address the treatment of such challenging conditions. Available data do not support an increased risk of GIST in IBD patients, but GI CaT may be more commonly observed in Crohns disease. However, the presentation of GIST and GI CaT is protean and does not seem to be associated with disease activity in the involved GI segment in IBD. Conversely, some evidences suggest a potential role of inflammation in sustaining GI CaT in IBD. Increased awareness, longer duration of disease, and improved diagnostic modalities should also be considered when evaluating the increasing trend of CaT in CD patients. Treatment of GIST and CaT is not dissimilar from that of non-IBD patients, but prompt suspicion and diagnosis are crucial to achieve optimal outcomes.

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.

We performed whole exome sequencing in individuals from a family with autosomal dominant gastropathy resembling Ménétrier disease, a premalignant gastric disorder with epithelial hyperplasia and enhanced EGFR signalling. Ménétrier disease is believed to be an acquired disorder, but its aetiology is unknown. In affected members, we found a missense p.V742G variant in MIB2, a gene regulating NOTCH signalling that has not been previously linked to human diseases. The variant segregated with the disease in the pedigree, affected a highly conserved amino acid residue, and was predicted to be deleterious although it was found with a low frequency in control individuals. The purified protein carrying the p.V742G variant showed reduced ubiquitination activity in vitro and white blood cells from affected individuals exhibited significant reductions of HES1 and NOTCH3 expression reflecting alteration of NOTCH signalling. Because mutations of MIB1, the homolog of MIB2, have been found in patients with left ventricle non-compaction (LVNC), we investigated members of our family with Ménétrier-like disease for this cardiac abnormality. Asymptomatic left ventricular hypertrabeculation, the mildest end of the LVNC spectrum, was detected in two members carrying the MIB2 variant. Finally, we identified an additional MIB2 variant (p.V984L) affecting protein stability in an unrelated isolated case with LVNC. Expression of both MIB2 variants affected NOTCH signalling, proliferation and apoptosis in primary rat cardiomyocytes.In conclusion, we report the first example of left ventricular hypertrabeculation/LVNC with germline MIB2 variants resulting in altered NOTCH signalling that might be associated with a gastropathy clinically overlapping with Ménétrier disease.

Impact of hiatal hernia on pediatric dyspeptic symptoms.

Objectives: Hiatal hernia (HH) affects from 10% to 50% of adult population. The correlation between HH, gastroesophageal reflux disease, dyspeptic symptoms, and esophagitis has long been known in adults. The primary objective of our prospective observational study was to estimate the prevalence of HH in children undergoing esophagogastroduodenoscopy (EGD), irrespective of their symptoms. Methods: We prospectively enrolled 111 consecutive children (48 boys and 63 girls; mean age 94.9 ± 52.3 months) referred for EGD. In all of the patients a symptomatic score assessment based on the Rome III criteria was used to measure frequency, severity, and duration of gastrointestinal symptoms. HH presence was endoscopically defined; esophagitis presence was evaluated either endoscopically and histologically. Children were divided in 2 age-range groups: <48 months (group 1) and >48 months (group 2). Results: Twenty-three patients of 111 (20.7%) had evidence of a sliding HH at EGD. In children from group 2, we found a statistically significant association of HH with heartburn (P = 0.03, 95% confidence interval 1–9.3, r2 = 0.1) and regurgitation (P = 0.003, 95% confidence interval 1.7–20.4, r2 = 0.3). Regarding esophagitis presence, no association was found at any age either with defined esophagitis or with dilated intercellular spaces. Conclusions: Prevalence of HH in our study population was 20.7%. According to our data, HH correlates with the presence of heartburn and regurgitation in children, but not in toddlers. No association was found with esophagitis at any age.

Periappendiceal inflammation in pediatric ulcerative colitis.

Background: An involvement of the appendiceal orifice as a distintive skip lesion in adults with left side ulcerative colitis (UC) has been reported. The aim of our prospective study was to evaluate, by endoscopy and histology, the prevalence of periappendiceal inflammation (PAI) in children affected by UC. Methods: Fifty of 77 consecutive children undergoing total colonoscopy, who had a diagnosis of UC not extended beyond the hepatic flexure were enrolled. Results: PAI was endoscopically present in 16 of 50 patients (32%) with UC. Patients were divided in 2 groups: group A included the 16 patients with PAI, whereas group B included 34 patients without PAI. We found that among the 2 groups, PAI was more frequent in patients with new diagnosis than in those with pre-existing UC (P = 0.016). At index colonoscopy, the patients of group A had a significant major extent of disease (P = 0.013). Moreover, the histologic grade of inflammation at the ascending colon was significantly higher in group A than in group B (P = 0.014). Clinical activity, measured by pediatric ulcerative colitis activity index, and use of medication did not show significant differences among groups (P = 0.464 and P = 0.723, respectively). The use of immunosuppressant was significantly higher in group A than in group B. Conclusions: PAI is a frequent skip lesion in children with UC. It seems more frequent in patients with new diagnosis, and it is associated with a major extent of the disease and with a higher grade of histologic inflammation at the ascending colon.

Does Azathioprine induce endoscopic and histologic healing in pediatric inflammatory bowel disease? A prospective, observational study

BACKGROUND The new concept of disease remission for pediatric inflammatory bowel diseases (IBD) implies the achievement of mucosal healing. AIMS We aimed to evaluate endoscopic and histologic healing in children with Ulcerative Colitis (UC) and Crohns disease (CD) in clinical remission after 52 weeks of Azathioprine. METHODS From December 2012 to July 2015 we prospectively enrolled IBD children starting Azathioprine. Enrolled patients in clinical remission underwent colonoscopy after 52 weeks. Macroscopic assessment was described with Mayo score and the simplified endoscopic score for UC and CD, respectively. For microscopic assessment, an average histology score was used. Data on inflammatory markers and fecal calprotectin were also collected. RESULTS Fourty-seven patients were included in the analysis. Endoscopic healing was detected in 20/26 (76.9%) UC children and 10/21 (47.6%) CD patients. Median Mayo score and simplified endoscopic score were significantly decreased at week 52 (p<0.001; p=0.005). Median average histology score was not significantly different at week 52 in both diseases. Fecal calprotectin was directly correlated with simplified endoscopic score (T0: r=0.4, p=0.05; T52: r=0.5, p=0.01), but not with Mayo score. No correlation was found between endoscopic and histologic scores. CONCLUSIONS IBD children under Azathioprine reach endoscopic healing, but not histological remission.