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BACKGROUND/OBJECTIVES: Aggressive clinical and biological behavior, high morbidity and mortality are the main characteristics of pediatric high-grade-gliomas (HGG). Our aim was to study patients (pts) with ΗGG or diffuse-intrinsic-pontine-glioma (DIPG), diagnosed in the largest pediatric neurooncology Center in Greece. DESIGN-METHODS: We performed a retrospective-review of newly-diagnosed pts with HGG or DIPG during 2014-2021. Gender, age, location, resectability, type of surgery, histological and molecular characteristics, management and outcome were analyzed. RESULTS: During the study-period, 38pts (18females), median age:9.35y(range:3days-16.9y), were diagnosed in our center. The most common tumor-location were pons (17/38 pts) and parietal lobe (11/38 pts). DIPG based on imaging-studies was diagnosed in 16pts. Surgical approach was performed in 32pts (VP-shunt insertion:8, biopsy:12, partial resection:6, subtotal: 6). In 23pts(5 brainstem-tumors) a histological-diagnosis was feasible. Astrocytoma grIV was found in 60.8% and grΙΙΙ in 26.1%(14 and 6 respectively). Of notice, 3 additional pts with histological findings of low-grade(2grII and 1gr1), were upgraded in grIV after molecular-studies and DNA-methylation analysis. Furthermore, 17.3% of the pts (4/23, 3 located in the midline) carried a Η3Κ27Μ-mutation (diffuse midline glioma, DMG), 17.3% a Η3F3A-mutation and 8.6% showed ΕGFR-overexpression. All patients>3years of age were treated upfront according to HIT-HGG2013 with radiotherapy-temozolomide (29/32pts). In 5DIPG pts, reirradiation after disease-progression resulted in temporary symptomatic improvement. HGG-pts upon progression were treated with bevacizumab-irinotecan. Of the 38pts, 6pts elected to receive treatment in other countries. Overall-survival was 75.1%,15.1% and 3.7% at 1,2 and 3 years post-diagnosis respectively. Patients with DIPG/ DMG and non-midline HGG had a median overall-survival of 1.10 years and1.34 years, respectively. CONCLUSIONS: The experience of our unit concurs with worldwide published series and shows that pediatric HGG and DIPG have a dismal prognosis. Re-irradiation may offer short survival prolongation. ASKNOWLEDGEMENTS: Authors asknowledge the contribution of KiTZ-Heidelberg in molecular diagnostics through collaboration with ACCC.

BACKGROUND: Gliomatosis cerebri (GC), a radiologically defined diffusely infiltrating glioma, is no longer considered a distinct entity since the 2016 WHO classification for tumors of the CNS. Due to its rarity and dismal prognosis treatment recommendations in children remain ambiguous. Using central neuroradiological review, we performed a multi-institutional, retrospective study of GC providing comprehensive radiological, clinical, and (epi)genetic characterization. RESULTS: We included 104 patients between 1-19 years. Within a median follow-up of 15.5 months (range, 2.3-138.8), 93 patients (89.4 %) had died, 4 (3.8 %) were lost to follow-up and 7 (6.8 %) were alive with stable/progressive disease. Median progression-free- (PFS) and overall survival (OS) were 8.6 months (interquartile range, 4.3-14.0) and 15.5 months (10.9-27.7), respectively. Former WHO grading correlated significantly with median OS: WHO °II: 47.8 months (25.2-55.7); WHO °III: 15.9 months (11.4-26.3); WHO °IV: 10.4 months (8.8-14.4) (p

ΕΙΣΑΓΩΓΗ: Η γαστρίτιδα της παιδικής ηλικίας παρουσιάζει διαφορέςαπό εκείνη των ενηλίκων τόσο ως προς τα επιδημιολογικά χαρακτηριστικά,όσο και ως προς την κλινική, ενδοσκοπική αλλά και ιστολογική εικόνα. Ηυπάρχουσα βιβλιογραφία στα παιδιά κυρίως αφορά στην λοίμωξη απόΕλικοβακτηρίδιο του πυλωρού, περιορίζεται δε σε μικρό αριθμό ασθενών καιείναι λιγοστή.ΣΚΟΠΟΣ: H μελέτη της γαστρίτιδας στην παιδική ηλικία ως προς τηνεπιδημιολογικά, κλινικά, ενδοσκοπικά και ιστολογικά χαρακτηριστικά σεμεγάλο αριθμό παιδιατρικών ασθενών. Επιπλέον η διερεύνηση τηςενδεχόμενης συσχέτισης αυτών των χαρακτηριστικών με συγκεκριμένα αίτιαγαστρίτιδας καθώς και η σύγκριση των αποτελεσμάτων με την ελληνική καιδιεθνή βιβλιογραφία.ΥΛΙΚΟ-ΜΕΘΟΔΟΣ: Μελετήθηκε αναδρομικά το σύνολο των παιδιώνηλικίας 1 μηνός έως και 18 ετών που υπεβλήθησαν σε γαστροσκόπηση κατάτο χρονικό διάστημα 2002-2011 στην Παιδογαστρεντερολογική Μονάδα τηςΑ΄ Παιδιατρικής Κλινικής του Πανεπιστημίου Αθηνών, στο ΝοσοκομείοΠαίδων «Η Αγία Σοφία».Στην μελέτη συμπεριλήφθηκαν ασθενείς οι οποίοι υπεβλήθησαν γιαπρώτη φορά σε ενδοσκόπηση ανωτέρου πεπτικού και δεν είχαν λάβειπροηγουμένως φαρμακευτική αγωγή με Η2 ανταγωνιστές, αναστολείςαντλίας πρωτονίων ή στεροειδή.ΑΠΟΤΕΛΕΣΜΑΤΑ: Μελετήθηκαν 1674 ασθενείς (851 αγόρια, 50,83%)διάμεσης ηλικίας 7,48 ετών± 4,45 έτη (εύρος: 1 μηνός-18 ετών).Το 88,06% του συνόλου των ασθενών είχαν Η.Pylori αρνητικήγαστρίτιδα και μόνο 11,94% Η.Pylori θετική γαστρίτιδα.Tο συνηθέστερα περιγραφόμενο σύμπτωμα ήταν το επιγαστρικόάλγος (32,5%).Όσον αφορά στην κλινική διάγνωση, γαστρίτιδα μόνο διαγνώστηκεσε 33,09%, δωδεκαδακτυλίτιδα μόνο σε 20,49%, οισοφαγίτιδα σε 11,17%,ενώ κοιλιοκάκη και ΙBD διαγνώστηκε σε 12,13% και 9,56% αντίστοιχα. Δενβρέθηκαν παθολογικά ευρήματα στο 5,73% των ασθενών.Από τα ενδοσκοπικά ευρήματα, ερυθρότητα παρατηρήθηκεσυχνότερα στο πυλωρικό άντρο (34,71%) και στον δωδεκαδάκτυλο (30,84%).Οίδημα παρατηρήθηκε συχνότερα στον οισοφάγο και στο δωδεκαδάκτυλο(37,31% και 21,39% αντίστοιχα). Συνηθέστερη εντόπιση των ενδοσκοπικώναλλοιώσεων στον στόμαχο ήταν η γαστρίτιδα άντρου (51,33%) καιακολούθως η πανγαστρίτιδα (31,2%). Ως προς τα ιστολογικά ευρήματα,μετρίου και σοβαρού βαθμού ενεργότητα και χρονιότητα στο πυλωρικόάντρο σχετίζονταν με Η.Pylori λοίμωξη Διαπιστώθηκε αναντιστοιχία μεταξύ ενδοσκοπικών και ιστολογικώνευρημάτων στο 37,8% των ασθενών, η δε παρουσία ενδοσκοπικώνευρήματων συσχετίστηκε με H.Pylori λοίμωξη.ΣΥΜΠΕΡΑΣΜΑΤΑ: Aπό τις σημαντικότερες παρατηρήσεις της μελέτηςαποτελούν:1 Από το σύνολο των ενδοσκοπηθέντων παιδιών χωρίς παθολογικάιστολογικά ευρήματα ανεξαρτήτως εντόπισης (οισοφάγο, στόμαχο,δωδεκαδάκτυλο) βρέθηκε μόνο το 5,73%.2. Διαπιστώθηκε υψηλή συχνότητα γαστρίτιδας ιστολογικά στο σύνολοτων ενδοσκοπηθέντων ασθενών (64,94%)3. Στην πλειονότητα των ασθενών διαπιστώθηκε μικρού έως μετρίουβαθμού γαστρίτιδα ως προς την ενεργότητα(91,79%) και την χρονιότητα(91,97%), ενώ σοβαρού βαθμού σε πολύ μικρό ποσοστό ασθενών (1,49%και 6,56% αντίστοιχα).4. Η H.Pylori(-) γαστρίτιδα ανευρέθη στο 88,06% των ασθενών και ηΗ.Pylori (+) γαστρίτιδα στο 11,94% από το σύνολο των ασθενών.ασθενείς.5. Οι ασθενείς με επιγαστρικό άλγος είχαν 5,0 φορές μεγαλύτερηπιθανότητα να παρουσιάζουν H.Pylori (+) γαστρίτιδα συγκριτικά μεασθενείς χωρίς επιγαστρικό άλγος.6. Οι ασθενείς με οζίδια στο πυλωρικό άντρο είχαν 32,3 φορέςμεγαλύτερη πιθανότητα να ανήκουν στην ομάδα των ασθενών με H.Pylori(+) γαστρίτιδα συγκριτικά με ασθενείς χωρίς οζίδια στο πυλωρικό άντρο.7. Οι ασθενείς με παθολογικά ενδοσκοπικά ευρήματα είχαν 5,7 φορέςμεγαλύτερη πιθανότητα να ανήκουν στην ομάδα με H.Pylori (+)γαστρίτιδα χωρίς ενδοσκοπικά ευρήματα.8. Οι ασθενείς με οισοφαγίτιδα ή και δωδεκαδακτυλίτιδα είχαν σημαντικάμικρότερη πιθανότητα να ανήκουν στην ομάδα των παιδιών με H.Pylori(+) λοίμωξη.9. Διαπιστώθηκε στατιστικά σημαντική μειωμένη συχνότητα λοίμωξης μεΗ.Pylori σε ασθενείς με IΦΝΕ (p

BACKGROUND/OBJECTIVES:Optic-pathway-glioma(OPG) represents the most common central-nervous tumor in children with neurofibromatosis type-1(NF1), occurring at an incidence of 15-20%. It is estimated that 1/3 of NF1 patients(pts) with OPG will need treatment. DESIGN-METHODS:We performed a retrospective-review of all NF1-pts examined in the First Hellenic Multidisciplinary-Clinic – Center of Expertise for Neurocutaneous-disorders. Gender, age, MRI-radiological and ophthalmological findings, presence of OPG, management and outcome were analyzed. RESULTS:Since the establishment of the Clinic in 2016, 198pts with clinical diagnosis of NF1 based on NIH1988-criteria were evaluated and of them, 165(73 females, median age:5.5y, range:0.3-17.1y), who had imaging studies were included in this analysis. Eighty three pts(50.3%) had NF1-positive genetic-testing and 45NF1-family-history(27.3%). Imaging-findings from optic pathway were found in 55/165pts(28females). Percentage of pts with findings were 51.7% for 10y, respectively. The median age of their first brain-MRI imaging was 2.82y. Upon 1stMRI-imaging, 70.9% presented thickness of the optic nerves(ON)(25,4%bilateral, 20% optic chiasm,18.1% right ON, 10.0% left ON), 14.5%ON-tortuosity, 38.1%OPG(43,5% in the optic-chiasm) and 34.5% contrast enhancement. Of notice, 14pts presented an OPG after a median follow-up time of 1.79y. According to LGG2004-protocol indications for treatment, only 15/55pts had to be treated(27,2%, 5pts with family history, 33.3% between 5-10y). Severe vision-loss with need for immediate start of treatment upon 1stMRI imaging was found in 4pts, of whom 75% had family-history and first evaluation after the 5th year of age. Of notice, only 2pts

INTRODUCTION-BACKGROUND: Cognitive, learning and/or behavioral disorders are common (up to 70%) complications of neurofibromatosis (NF). The first multidisciplinary-clinic for neurocutaneous-disorders was established at the Aghia Sophia Children’s Hospital in Athens, Greece, in 2016. Since then, more than 200 children and adolescents with NF have been examined. SCOPE: Acknowledging and indicating awareness on the devastating life-long consequences (poor academic performance, behavioral problems, and limited career prospectives) that can result from cognitive impairment, a research collaboration with educational specialists was recently implemented to examine the neurocognitive functions of children and adolescents with NF. MATERIALS: Children and adolescents aged 7-14 years who suffer from NF type I or type II, were eligible for study entry. The third edition of the Wechsler Intelligence Scale (WISC-III) was used to measure participants’ cognitive function. RESULTS: Preliminary results of this ongoing study are presented. Patients’ recruitment was limited by the coronavirus disease 2019 (COVID-19) restrictions. At this stage, the research involved 10 participants suffering from NF, with mean (± SD) age of 11.55 (± 1.80) years and a male-to-female ratio of 1. The mean (± SD) full-scale intelligence quotient (IQ) was 85.50 (± 18.80), corresponding to the 0.3rd to 73th percentile range. The mean (± SD) scores of performance IQ and verbal IQ were 84.90 (± 17.43) and 89.40 (± 17.23) respectively, corresponding to the 1st to 73rd percentile range for both subscales. CONCLUSION: Significant cognitive deficits, according to the percentile scores of WISC-III, were demonstrated in the small number of children and adolescents suffering from NF (type I or type II). Cognitive assessment, as part of the multidisciplinary approach of these patients is warranted, to aid timely educational interventions and improve patient learning outcomes.

BACKGROUND: Tumors of Central Nervous System (CNS) comprise major cause of cancer-related morbidity and mortality during childhood. Recent advances in genome and epigenome research allow for molecular classification of CNS tumors, treatment stratification and therapeutic target identification. In many countries, including Greece, this integrated diagnosis is not possible, yet, in a routine setting due to financial and infrastructural reasons. DESIGN/METHODS: We analyzed the results from the methylation profiling performed on tumor samples from newly diagnosed and selected retrospective patients followed in our unit. Analyses were performed through the PTT2.0 and MNP2.0 Studies, as part of a collaboration project between ACCC (Athens Cancer Comprehensive Center) and DKFZ (German Cancer Research Center). RESULTS: Methylation arrays from 50 patients (mean age: 8years, range: 0-17years) have been analyzed. High calibrated score (>0.9) was achieved in 38 patients (76%) and in 33 (86%) of these, the histological diagnosis matched the methylation class. The remaining 5 cases, diagnosed by the local pathologist as ganglioneuroma, primitive neuroectodermal tumor, anaplastic astrocytoma, pineoblastoma and oligodendroglioma, were classified according to the methylation profiling as dermatofibrosarcoma protuberans, medulloblastoma group 3, high-grade glioma H3.3G34mutant, high-grade neuroepithelial tumor with BCOR alteration and glioneuronal tumor, respectively. Only four cases had no match in the classifier, while seven cases received low score (0.5-0.8). In 6 out of the 7 cases with low score, the diagnosis was confirmed with the use either of the copy-number profile inferred from the methylation array or by additional testing for gene fusions and mutations. In 25 medulloblastomas, methylation profiling provided molecular classification, according to the 2021 WHO Classification. CONCLUSIONS: Our experience on the first 50 cases suggests that methylation array needs to be considered as an integral part of the diagnostic process of pediatric patients with CNS tumors and highlights the importance of international collaboration programs in pediatric neuro-oncology.

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care.Subjects and Methods: Retrospective analysis of a cohort of 157 pa...

Background:Acute Leukemia of Ambiguous Lineage (ALAL) is a very rare type of leukemia, comprising 2%-5% of Acute Leukemias (AL). There is a lack of a uniform definition, with two different classification systems used (EGIL and WHO 2008/2016), making the optimal chemotherapy approach undetermined. Patients and Methods:The medical records of newly diagnosed ALAL patients (BAL based on the EGIL criteria or ALAL based on the 2008/2016 WHO criteria), who were admitted to our hospital from January 2012 to August 2020, were retrospectively reviewed. Patients characteristics including age, sex, blood count, blasts in bone marrow and peripheral blood, morphology, immunophenotyping, and cytogenetic/molecular studies were obtained. Treatment methods and outcome data including induction chemotherapy, complete remission (CR), relapse, use of Hematopoietic Stem Cell Transplantation (HSCT) in first CR (CR1), and death were reviewed. Results:Among a total of 168 newly diagnosed patients with AL, 7 (4.17%) patients (5 male & 2 female), fulfilled prerequisites of ALAL/MPAL. The median age at diagnosis was 5 years (range 1-14 years). Distinct dimorphic lymphoid and myeloid (monocytic) blast populations were present in one case with bilineal leukemia, as well as in two cases of biphenotypic leukemia. The remaining cases had morphologic and cytochemical features of Acute Myeloid Leukemia (AML), French-American-British (FAB): M1, M5 subtypes in two cases and Acute Lymphoblastic Leukemia (ALL) FAB L1-L2 subtype in one case. One case presented with early switch of lineage from ALL at diagnosis to AML M5 at the end of induction treatment. The AML directed regimen was associated with better complete remission rate at the end of induction treatment (CR 100%) compared to the ALL directed regimen (CR 0%). It is of note that the two patients that failed to achieve CR with ALL directed chemotherapy did respond to the AML induction treatment. Six patients underwent HSCT in CR1. One patient relapsed and underwent HSCT in CR2, but succumbed due to treatment related mortality during the transplantation period. At a median follow-up of 3.7 years (range 1-8 years) the 5-year overall survival (OS) and the event free survival (EFS) were 80% and 60%, respectively. Conclusions:Considering that ALAL is a very rare leukemia, the optimal treatment approach remains a dilemma for many clinicians. Although patient numbers are small and follow-up periods are short, the use of AML treatment protocols for ALAL appears to be promising and efforts need to be made on an international collaborative scale. Disclosures Kattamis: Novartis:Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding, Speakers Bureau;Vertex:Membership on an entity's Board of Directors or advisory committees;Genesis Pharma SA:Membership on an entity's Board of Directors or advisory committees;Apopharma/Chiesi:Honoraria, Speakers Bureau;Celgene/BMS:Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau;Ionis:Membership on an entity's Board of Directors or advisory committees;Agios:Consultancy;Vifor:Membership on an entity's Board of Directors or advisory committees.

BACKGROUND/OBJECTIVES: Low-grade-gliomas(LGGs) encompass a heterogeneous set of tumors of different histologies. They are the most common type of pediatric brain tumors accounting almost 30-50% of them. This is the first attempt to describe characteristics of Greek-LGG-patients diagnosed in the largest Pediatric Brain Tumors National Center. DESIGN-METHODS: We performed a retrospective review of newly-diagnosed LGG-patients during 2015-2017. Gender, age, symptoms, location, leptomeningeal infiltration, histological type, BRAF-status, NF-status, management and outcome were analysed. RESULTS: During the study period, 42 LGG-patients(22males) were diagnosed. Median age was 6.3years(range:40days-15.8years). Nearly 80% of the patients had symptoms of raised intracranial-pressure (headache/vomiting). The most common locations were: posterior-fossa(38.0%) followed by optic-pathway(26.2%). Surgical intervention was possible in 30 patients(26 subtotal/total excision, 2 partial excision, 2 biopsy). Leptomeningeal infiltration at diagnosis was detected in 2 patients. Histological type was mostly astrocytoma (23pts, 54.8%), especially pilocytic type (69.5% of astrocytomas). NF1 was diagnosed in 23.8% of the patients. In 16non-NF1 patients RT-PCR was performed for KIAA1549/BRAF-fusion and was positive in 5 patients and BRAFV600Emutation was detected in 3 patients. Treatment according to LGG2004-protocol was administered in 13 patients, of which 5 needed treatment-modification (3 due to carboplatin allergic reaction and 2 due to progressive disease) Radiotherapy was administered in 2 patients. One patient had a malignant transformation to glioblastoma multiforme, 16 months after initial diagnosis and died. At the end of treatment, visual and mobility problems were noted in two and one patients respectively. CONCLUSIONS: The most common histologic type was pilocytic astrocytoma. Overall survival was 97,6%. Our findings agree with those of internationally published studies.

Background Recent studies have shown that patients with inflammatory bowel disease (IBD) are less likely to be infected with Helicobacter pylori compared with non-IBD patients. We aimed to study the prevalence of H. pylori-positive and H. pylori-negative gastritis in newly diagnosed children with IBD in comparison to those with non-IBD in Greece. Materials and Methods All children who underwent first esophagogastroduodenal endoscopy between 2002 and 2011 were retrospectively included. Four groups were studied: patients with Crohn's disease (CD), ulcerative colitis (UC), IBD unclassified (IBDU), and non-IBD individuals (non-IBD). Helicobacter pylori infection was defined by positive culture or by positive histology and CLO test. Those children with negative or not available culture and only one positive test (histology or CLO) were further evaluated by urea breath test, and the positives were also included in the infected group. Results We studied 159 patients with IBD (66 CD, 34 UC, and 59 IBDU) and 1209 patients in non-IBD individuals. Helicobacter pylori gastritis was less frequent in the IBD group (3.8% vs 13.2% in the control group, p

CNS tumors are the second most common neoplasms in children and primary cause of childhood cancer morbidity. With the increase of 5-year survival rate, the diagnosis of long-term consequences is necessary. Recent studies suggest that childhood CNS tumors are associated with IQ decline and deficits in specific cognitive functions. Factors such as localization, age at diagnosis and therapeutic modalities influence the range and severity of the neuropsychological deficits. OBJECTIVE: This work presents the results of the first systematic evaluation of neuropsychological performance of Greek children with CNS tumors. METHODS: 72 children underwent neuropsychological testing between September 2015 and December 2017. Forty five children (29 boys, 64%) with mean age of 10.5 (range: 5.3-16.1) years were included in the study. Eighteen (40%) patients had low grade tumors. All patients underwent a comprehensive neuropsychological assessment, covering all domains of cognitive functioning. Impairment was defined as a performance of one standard deviation below the normative mean. RESULTS: Poor neurocognitive performance was found regarding attention (-2sd), speed of processing (-1.5sd), verbal memory (-2sd), learning (-1.5sd) and executive functions (-2sd). Despite the abovementioned deficits, intellectual efficiency was relatively preserved and fell within low average levels (>16%ile). CONCLUSIONS: Our results are in line with previous reports suggesting that children who have been treated for CNS tumors present with a wide range of long-term effects on cognitive functioning. Longer follow-up and expansion of the sample may give for further insights on the factors associated with poor neurocognitive outcome and allow appropriate intervention for optimal outcome.

Background: Rapid urease test (CLO-test) is an inexpensive and quick method for diagnosis of Helicobacter pylori infection with controversial results in children. We evaluated the performance of CLO-test in relation to endoscopic and histological findings in children with H. pylori infection. Materials and methods: We studied the medical records of children with H. pylori infection who were diagnosed between 1989 and 2009. Noninfected children were used as controls. H. pylori infection was defined by positive culture or by two other positive tests (histology and CLO-test, or urea breath test when a single test was positive). All children had histology together with CLO-test. Tissue culture was performed whenever possible. Results: Five hundred thirty infected children (10.4 ± 3.0 years) and 1060 controls (7.3 ± 4.4 years) were studied. Sensitivity of CLO-test was 83.4% (95% CI, 79.9–86.3%), of culture 84.6% (95% CI, 78.7–89.1%), of histology 93.2% (95% CI, 90.7–95.1%), and specificity 99% (95% CI, 98.2–99.4%), 100%, and 100% respectively. CLO-test positivity was correlated with higher bacterial density (p

Introduction: Aplastic anemia (AA) is a rare syndrome of bone marrow failure characterized by peripheral blood pancytopenia and marrow aplasia. We report the clinical course and therapeutic approach of children with AA, who were treated in our Department within the last 4 years. Methods: Fifteen children (9 males/ 6 females) of mean age 7.64 years (range: 2 to 15 years) were diagnosed in our unit with AA since 2012. Diagnosis was established by bone marrow aspirate and biopsy and a normal bone marrow karyotype. Evaluation for underlying bone marrow failure syndromes, including Fanconi anemia, Shwachman-Diamond syndrome and paroxysmal nocturnal hemoglobinuria was performed in all cases. Results: Four children were identified with Fanconi anemia, both by cytogenetic and molecular analysis. Eleven children were diagnosed with acquired aplastic anemia (AAA); one probably after treatment with NSAIDs, one patient presented after influenza virus infection, while two patients presented also with transaminasemia of unknown etiology. First line therapy was hematopoietic stem-cell transplantation (HSCT), should an appropriate graft be available. In this respect, three patients (N: 3/4 ) with Fanconi anemia and one patient (N:1/11) with AAA were transplanted from a fully-matched sibling donor. One patient with AAA received autologous cord blood. The remaining ten patients (N: 10/15) received standard immunosuppressive therapy (antithymocyte globulin, cyclosporine-A and methylprednisolone). Eight of the 9 evaluable patients responded to therapy. Six of these patients also received treatment with eltrombopag, an oral thrombopoietin-receptor agonist, for at least six months. Eltrombopag was provided as off-label compassionate use and after having received approval from regulatory authorities. In these 6 patients, treatment with eltrombopag was well tolerated with no additive toxicity. Five patients showed progressive improvement of hematological values during the treatment with eltrombopag. Two patients with AAA, did not respond to immunosuppressive therapy, and subsequently underwent MUD-HSCT. One succumbed due to severe autoimmune hemolytic anemia, while the second has showed good engraftment, but with short post-BMT follow up time. Of note is, that one patient with Fanconi anemia showed full hematological recovery after immunosuppressive treatment. This patient, who was found to be homozygous for a FANC-E mutation, did not have any clinical stigmata. It is speculated that the unusual response to therapy may be due to its very mild clinical phenotype. Conclusions: Survival rates in severe AA have remarkably improved in the last decades due to allo-HSCT, immunosuppressive therapy and intense supportive care. This small series of children with AA underlines the option of new effective modalities. The use of autologous umbilical cord blood should be considered as an alternative first line therapy. Eltrombopag seems to improve platelet count and result in a tri-lineage response, in a manner similar to the one observed in adults with AA. Finally, the efficacy of immunosuppressive treatment in a patient with Fanconi anemia has not been previously described and warrants further evaluation. Disclosures Kattamis: Novartis: Honoraria, Research Funding; ApoPharma: Honoraria.

Focally enhanced gastritis (FEG) has been suggested as a diagnostic marker for patients with Crohn's disease. In this study we evaluated the prevalence of FEG in children with inflammatory bowel diseases (IBD) and assessed the ability of FEG to distinguish IBD from non-IBD patients.A retrospective study of the children who underwent esophagogastroduodenal endoscopy (EGD) during 2004-2011 was performed, after excluding individuals with H. pylori infection and celiac disease. Two groups were studied: patients with IBD (IBD group, n=185) and non-IBD patients who underwent endoscopy of the upper gastrointestinal tract for various abdominal complaints (non-IBD group, n=684). Relation of FEG to age and gender was also assessed.FEG was found significantly more frequently among children with IBD (35.7% vs 3.4%, respectively, p0.001). Children with FEG were 15.4 times more likely to have IBD than to belong in the non-IBD group. All types of IBD had significantly higher frequencies of FEG compared to non-IBD individuals (Crohn's disease: 54.1%, ulcerative colitis: 21.6%, IBD unclassified: 18.4%, all three comparisons with the non-IBD group: p-values0.001). FEG positivity was more common in females compared to males with Crohn's disease and ulcerative colitis and in children younger than 2 years in the IBD-unspecified group. FEG achieved a sensitivity of 35.7% and specificity of 96.6% in distinguishing between IBD from non-IBD patients.FEG has significantly higher prevalence in children with IBD, particularly Crohn's disease and can be a valuable supporting finding in cases of indefinite diagnosis.

Rapid urease test (CLO-test) is an inexpensive and quick method for diagnosis of Helicobacter pylori infection with controversial results in children. We evaluated the performance of CLO-test in relation to endoscopic and histological findings in children with H. pylori infection.We studied the medical records of children with H. pylori infection who were diagnosed between 1989 and 2009. Noninfected children were used as controls. H. pylori infection was defined by positive culture or by two other positive tests (histology and CLO-test, or urea breath test when a single test was positive). All children had histology together with CLO-test. Tissue culture was performed whenever possible.Five hundred thirty infected children (10.4 +/- 3.0 years) and 1060 controls (7.3 +/- 4.4 years) were studied. Sensitivity of CLO-test was 83.4% (95% CI, 79.9-86.3%), of culture 84.6% (95% CI, 78.7-89.1%), of histology 93.2% (95% CI, 90.7-95.1%), and specificity 99% (95% CI, 98.2-99.4%), 100%, and 100% respectively. CLO-test positivity was correlated with higher bacterial density (p.001), activity (p.001) and severity of gastritis (p.01), older age (p.01), and the presence of antral nodularity (p.001). When CLO-test was positive, the concordance with histology and culture was high (95.5 and 89.2% respectively), whereas low concordance was observed when CLO-test was negative (17.05 and 45.83% respectively).CLO-test had lower sensitivity and comparable specificity with histology. Both tests should be performed concurrently to accurately diagnose H. pylori infection in children.