BackgroundGenetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine the role of these alterations in recurrence and malignant transformation, and to verify if they could be used in the clinical set for stratifying patients for tailored therapies and surveillance.MethodsSanger sequencing was used for the assessment of BRAF mutations at exon 15 and Fluorescent In Situ Hybridization (FISH) with BAC: RP11–14192 for the detection of 9p21 alterations. Expression levels of the CDKN2A and MTAP by real-time PCR were evaluated in cases with 9p21 deletions. Statistical analysis of genetic and clinical data was performed using Graph Pad Prism 5 and SPSS Statistics 24 software.ResultsIn our cohort it was observed that 7 /78 (8,9%) of the low-grade tumors recurred and 2 (2,6%) showed malignant transformation. BRAF V600E mutations were detected in 15 cases. No statistically significant correlations were found between the presence of BRAF V600E mutation and patient’s morphologic or clinical features. Deletions at 9p21 abrogating the CDKN2A/B and MTAP loci were rare in grade I gliomas (12.2%, p = 0.0178) but frequent in grade IV gliomas (62.5%, p = 0.0087). Moreover it was found that deletions at these loci were correlated with a shorter overall survival (p = 0.011) and a shorter progression-free survival (p = 0.016).ConclusionsIt was demonstrated that in these tumors BRAF V600E mutated and that CDKN2A/B MTAP co-deletions may be used for stratifying patients for a stricter surveillance. The Investigating and defining if glial tumors with CDKN2A/B and MTAP homozygous loss may be vulnerable to new forms of therapy, namely those affecting the methionine salvage pathway, was proven to be of importance.Electronic supplementary materialThe online version of this article (10.1186/s12885-018-5120-0) contains supplementary material, which is available to authorized users.
Prenatal counselling following the diagnosis of fetal ventriculomegaly is challenging. Fetal MRI (magnetic resonance imaging) can be helpful in characterizing ventriculomegaly severity and associated anomalies, hence contributing to prognosis establishment. Choroid plexus hyperplasia (CPH) is a rare entity characterized by enlargement of the choroid plexuses, usually progressing to severe hydrocephalus with an associated poor outcome. We present a case of CPH diagnosed by fetal MRI at 23 weeks of gestation following referral for ventriculomegaly. The pregnancy was carried to term and the child was monitored clinically and radiologically. Despite the persistence of enlarged choroid plexuses, the ventricular size has progressively decreased, and at the 4-year follow-up the child presented normal psychomotor development. This case highlights the added value of MRI in prenatal diagnosis of fetal ventriculomegaly and its management. The unusual benign outcome in this case can be considered for parental counselling when faced with a fetus with similar findings.
Tuberous sclerosis (TS) is a genetic multisystem disorder associated with the development of benign tumors in many organs. Diffuse lipomatosis, which represents the overgrowth of fatty tissue in one part of the body, is a very rare finding reported in patients with tuberous sclerosis. We describe the case of a patient with diffuse lipomatosis in the right scapular, posterior cervical and perivertebral regions, associated with a space-occupying lesion adjacent to the odontoid process of C2 that appeared to be a pseudotumor, and discuss possible relation between these entities.
We present a case study of a 5-year-old patient, who presented with left-sided torticollis. Due to persistence of problems, a CT and an MRI were made showing a single osteolytic lesion centred on right occipital condyle. After an open biopsy, histology confirmed it to be Langerhans cell histiocytosis (LCH). Torticollis or restricted range of motion is a presenting feature in 76% of children with LCH with cervical involvement. There remains much debate on the best treatment strategy. The clinical and radiological outcomes of the case study presented on this article support the treatment of LCH with chemotherapy in cases with solitary involvement of the occipital condyle.
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