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Arachnoid cysts (AC) are reported to have a prevalence of up to 2.6% in children. Most AC remain indolent, but others may expand or rupture to cause life-threatening symptoms of raised intracranial pressure. Currently, there are 2 controversial topics with regards to the management of ACs: the indications for surgery and the choice of surgical procedure. We therein report our institution's neurosurgical experience for symptomatic AC over a 22-year period and corroborate our results with published literature. This is a single institution, retrospective study conducted at KK Women's and Children's Hospital from 01 January 1998 to 31 December 2019. A total of 38 patients with ACs that required surgery were recruited. The 3 most common anatomical locations were in the middle cranial fossa (40.5%), posterior fossa (24.3%) and interhemispheric (13.5%). Typical clinical presentations included symptoms of raised intracranial pressure (34.2%), obstructive hydrocephalus (28.9%) and AC rupture (21.1%). Surgical approaches included 17 craniotomy-based procedures, 7 endoscopic fenestrations, 11 cystoperitoneal shunts, 2 burrhole drainage operations and 1 excision of spinal AC. Thirteen patients (34.2%) underwent either another operation due to the lack of resolution of their AC-related symptoms or secondary to complications directly related to their initial surgery. Average length of followup from time of first operation was 84.1 months. Overall, our results demonstrate similarities in epidemiology, clinical presentation and surgical experience, in comparison to larger cohort studies. We advocate collaborative efforts to better understanding of the pathophysiology of paediatric ACs, particularly for deciding between the various surgical treatment modalities.

BackgroundGerminomas (IG) account for up to 50% of all intracranial germ cell tumours. These tumours are reputed to be more prevalent in Oriental populations in comparison to Western cohorts. Biological characteristics of IG in other ethnic groups are unknown. Singapore is a multi-ethnic country with diverse cultures. Owing to inter-racial heterogeneity, the authors hypothesize there are molecular differences between paediatric IG patients in our local population. The aims of this study are exploratory: firstly, to identify molecular characteristics in this tumour type and circulating CSF unique to different racial cohorts; and next, to corroborate our findings with published literature.MethodsThis is a single-institution, retrospective study of prospectively collected data. Inclusion criteria encompass all paediatric patients with histologically confirmed IG. Excess CSF and brain tumour tissues are collected for molecular analysis. Tumour tissues are subjected to a next generation sequencing (NGS) targeted panel forKIT and PDGRA. All CSF samples are profiled via a high-throughput miRNA multiplexed workflow. Results are then corroborated with existing literature and public databases.ResultsIn our cohort of 14 patients, there areKITexon variants in the tumour tissues and CSF miRNAs corroborative with published studies. Separately, there are alsoKITexon variants and miRNAs not previously highlighted in IG. A subgroup analysis demonstrates differential CSF miRNAs between Chinese and Malay IG patients.ConclusionThis is the first in-depth molecular study of a mixed ethnic population of paediatric IGs from a Southeast Asian cohort. Validation studies are required to assess the relevance of novel findings in our study.

Ex vivo evaluation of personalized models can facilitate individualized treatment selection for patients, and advance the discovery of novel therapeutic options. However, for embryonal malignancies, representative primary cultures have been difficult to establish. We developed patient‐derived cell cultures (PDCs) from chemo‐naïve and post–treatment neuroblastoma tumors in a consistent and efficient manner, and characterized their in vitro growth dynamics, histomorphology, gene expression, and functional chemo‐response. From 34 neuroblastoma tumors, 22 engrafted in vitro to generate 31 individual PDC lines, with higher engraftment seen with metastatic tumors. PDCs displayed characteristic immunohistochemical staining patterns of PHOX2B, TH, and GD2 synthase. Concordance of MYCN amplification, 1p and 11q deletion between PDCs and patient tumors was 83.3%, 72.7%, and 80.0% respectively. PDCs displayed a predominantly mesenchymal‐type gene expression signature and showed upregulation of pro‐angiogenic factors that were similarly enriched in culture medium and paired patient serum samples. When tested with standard‐of‐care cytotoxics at human C max‐equivalent concentrations, MYCN‐amplified and non‐MYCN‐amplified PDCs showed a differential response to cyclophosphamide and topotecan, which mirrored the corresponding patients’ responses, and correlated with gene signatures of chemosensitivity. In this translational proof‐of‐concept study, early‐phase neuroblastoma PDCs enriched for the mesenchymal cell subpopulation recapitulated the individual molecular and phenotypic profile of patient tumors, and highlighted their potential as a platform for individualized ex vivo drug‐response testing., We developed a system to efficiently and consistently generate patient‐derived cultures (PDCs) of neuroblastoma that recapitulated individual patient’s cytogenetic and immunohistochemical features, and phenotypic responses to standard‐of‐care chemotherapy. PDCs predominantly express the gene signature of the recently described neuroblastoma mesenchymal super‐enhancer state. This proof‐of concept provides translational evidence supporting the proposed role of the mesenchymal cell subpopulation in determining clinical treatment response and offers a novel platform for developing personalized ex vivo therapeutic decision‐making strategies for neuroblastoma.

Background Metastatic medulloblastoma (MB) portends a poor prognosis. Amongst the 4 molecular subtypes, Group 3 and Group 4 patients have a higher incidence of metastatic disease, especially involving the neuroaxis. At present, mechanisms underlying MB metastasis remain elusive. Separately, inflammation has been implicated as a key player in tumour development and metastasis. Cytokines and their inflammation-related partners have been demonstrated to act on autocrine and, or paracrine pathways within the tumour microenvironment for various cancers. In this study, the authors explore the involvement of cerebrospinal fluid (CSF) cytokines in Group 3 and 4 MB patients with disseminated disease. Methods This is an ethics approved, retrospective study of prospectively collected data based at a single institution. Patient clinicpathological data and corresponding bio-materials are collected after informed consent. All CSF samples are interrogated using a proteomic array. Resultant expression data of selected cytokines are correlated with each individual’s clinical information. Statistical analysis is employed to determine the significance of the expression of CSF cytokines in Group 3 and 4 patients with metastatic MB versus non-metastatic MB. Results A total of 10 patients are recruited for this study. Median age of the cohort is 6.6 years old. Based on Nanostring gene expression analysis, 5 patients have Group 3 as their molecular subtype and the remaining 5 are Group 4. There are 2 non-metastatic versus 3 metastatic patients within each molecular subtype. Proteomic CSF analysis of all patients for both subtypes show higher expression of CCL2 in the metastatic group versus the non-metastatic group. Within the Group 3 subtype, the MYC-amplified Group 3 MB patients with existing and delayed metastases express higher levels of CXCL1, IL6 and IL8 in their CSF specimens at initial presentation. Furthermore, a longitudinal study of metastatic Group 3 MB observes that selected cytokines are differentially expressed in MYC-amplified metastatic Group 3 MB, in comparison to the non-MYC amplified metastatic Group 3 MB patient. Conclusion This study demonstrates higher expression of selected CSF cytokines, in particular CCL2, in metastatic Group 3 and 4 MB patients. Although our results are preliminary, they establish a proof-of-concept basis for continued work in a larger cohort of patients affected by this devastating disease.

Developmental venous anomaly (DVA) is the most common type of intracranial vascular malformation. These lesions are benign and are considered to be non-pathological variants of normal deep parenchymal veins. Although most of them are asymptomatic, a small subset of them located in aqueductal region have been reported to cause obstructive hydrocephalus. The authors present an interesting case of biventricular hydrocephalus secondary to a DVA located on the proximal aqueduct in an adolescent patient. This case is discussed with in corroboration with current literature and management recommendations.

Background Meningioangiomatosis is an extremely rare meningovascular disease of the central nervous system that is characterized by the proliferation of leptomeninges, cortical vessels, and perivascular spindled cells. Although it is a benign, neoplastic disorder that carries a good prognosis after surgical excision, initial diagnosis may be challenging as radiologic findings are often variable and nonspecific. Case Description In this report, we describe an unusual presentation of meningioangiomatosis presenting as a symptomatic middle cranial fossa arachnoid cyst. Conclusions In view of the unexpected diagnosis and infrequency of this condition, the case is discussed in collaboration with current literature and management strategies.

Background Intraoperative magnetic resonance imaging (iMRI) has been recognized as a useful adjunct for brain tumor surgery in pediatric patients. There is minimal data on the use of an offsite intraoperative magnetic resonance imaging operating theater (iMRI OT), whereby vehicle transfer of patients is involved. The primary aim of this study is to validate the feasibility of perioperative patient transfer to use an offsite iMRI OT for patients with pediatric brain tumor. Secondary objectives include the assessment of tumor resection efficacy and perioperative outcomes in our patient cohort. Methods This is a retrospective, single-institution clinical study of prospectively collected data from Singapore's largest children hospital. Variables of interest include issues encountered during interhospital transfer, achievement of surgical aims, length of stay in hospital, and postoperative complications. Our findings were compared with results of related studies published in the literature. Results From January 1, 2009 to December 31, 2018, a total of 35 pediatric operative cases were performed in our offsite iMRI OT. Within this cohort, 24 of these were brain tumor surgery cases. For all the patients in this study, use of the iMRI OT influenced intraoperative decisions. Average ambulance transport time from parent hospital to the iMRI OT was 30.5 minutes, and from iMRI OT back to the parent hospital after surgery was 27.7 minutes. The average length of hospitalization stay was 7.9 days per patient. There were no ferromagnetic accidents during perioperative iMRI scanning and no airway/hemodynamic incidents in patients encountered during interhospital transfer. Conclusions In our local context, the use of interhospital transfers for access to iMRI OT is a safe and feasible option in ensuring good patient outcomes for a select group of patients with pediatric brain tumors.

Paediatric meningiomas are extremely rare. These tumours constitute only 2 to 3% of all childhood brain tumours. Despite similarities in histological features between PMs and their adult counterparts, there are important distinctions between them. In this case series, the authors describe their experience in paediatric meningiomas in Singapore’s 2 children’s hospitals from 1998 to 2018. The primary aim of this retrospective study is to evaluate the clinical, radiological and pathological characteristics, and associated outcomes of paediatric patients diagnosed with meningioma managed in our local institutions. Following that, the study’s findings are secondary aims are corroborated with published literature. A total of 10 patients (4 males and 6 females) were identified for this study within the period of 01 January 1998 to 31 December 2018. Their ages ranged from 1 year old to 18 years old (median age 10.5 years old). Two of the patients had NF1 and NF2 respectively. There were 9 intracranial and 1 intraspinal paediatric meningiomas. Seven patients achieved gross total resection and 3 patients had subtotal resection. Eight patients did not have tumour recurrence or increase in size of tumour remnant during the course of their follow-up. In congruency with the literature, up to 40% of our patients had higher grade meningiomas and 55.6% had large tumour volumes more than 30 cm3. Owing to the paucity of knowledge for this unusual tumour, the authors emphasize the need for closer surveillance and in-depth genomic studies to identify novel therapies for this challenging condition.

IntroductionThe treatment of pediatric optic pathway gliomas (OPG) is challenging. At present, most centers provide individualized treatment to maximize progression free survival (PFS) and minimize morbidity. We aim to report our experience in the management of pediatric OPG, and investigate factors associated with an increased duration of remission after treatment.MethodsThis is a single-institution study approved by the hospital ethics board. A retrospective review of consecutive OPGs managed from 2000 to 2020 was performed. Patients were divided into those managed with monomodality treatment (MT) and those who received combined therapy (CT). MT included various forms of surgery, chemotherapy and radiotherapy given alone, while CT involves a combination of surgery and adjuvant chemotherapy and/or radiotherapy.ResultsTwenty-two patients were selected for this study. They had 40 treatment cycles; and a total follow up duration of 194.8 patient-years. Most of them were male (63.6%) and presented with visual deficits (72.7%). The mean age at initial presentation was 65 months and majority (86.4%) had their tumors arising directly from the optic chiasm, with 77.3% with hypothalamic extension. One patient had Neurofibromatosis type I (4.5%). The most common histological diagnosis was pilocytic astrocytoma (90.9%), followed by pilomyxoid astrocytoma (9.1%). The 5- and 10- year PFS were 46.2% and 36.4% respectively, while the 5- and 10-year OS were both 100%. When accounting for treatment type, there were 24 treatment cycles with MT (60.0%) and 16 CT (40.0%). After adjustment, treatments with MT were shown to have a shorter mean duration of remission (MT: 45 ± 49, CT: 84 ± 79 months; p = 0.007). Cox regression curve plotted after adjusting for patient’s age at treatment demonstrated a significantly longer PFS in the CT group (p = 0.037).ConclusionsOur results suggest a significant survival benefit of CT over MT for affected patients due to the prolonged the duration of disease remission, for both primary and subsequent treatments. Nonetheless, we acknowledge that our study reflects the outcomes of treatment strategies that have evolved over time. We emphasize the need for collective efforts from a dedicated multidisciplinary team and international collaborations for better disease understanding.

Paediatric brain tumours (PBTs) are the most common solid tumours in children. Previous publications reflect variations in incidence rates and frequency of histological types in different global populations. However, there are limited studies on the epidemiology of PBTs in Singapore. This study aims to summarise the epidemiology of paediatric brain tumours managed in Singapore. This is an ethics-approved retrospective study of all patients below 19 years old diagnosed with PBTs managed by Singapore's 2 tertiary paediatric neurosurgical centres, KK Women's and Children's Hospital (KKH) and the National University Hospital (NUH) over a 15-year period from 01 January 2002 to 31 December 2017. Data collected was analysed for age, gender, tumour characteristics, presenting complaints, location, treatment modalities, 1-year and 5-year overall survival (OS). A total of 396 patients were included. The mean age of diagnosis was 7.05 years (0.25-18; ± 4.83) and male-to-female ratio was 1.41:1. Top histological groups were astrocytic (30.6%), embryonal (26.0%), germ cell (11.1%), ependymoma (30, 7.58%) and craniopharyngioma (27, 6.82%). Outcomes included recurrence rate (31.2%), 1-year OS (89.5%) and 5-year OS (72.2%). Poorer 5-year OS were noted in embryonal tumours (47.0%; p 0.001) and ependymoma (50.0%; p = 0.0074) patients. Of note, the following cohorts also had poorer OS at 5 years: supratentorial tumours (76.2%; p = 0.0426), radiotherapy (67.4%; p = 0.0467) and surgery (74.9%, HR; p 0.001). Overall, our data reflects patient demographics, presenting complaints, treatment modalities and survival outcomes, that are comparable to other international paediatric neurosurgical centres.

The incidence of paediatric glioblastoma is uncommon in comparison to their adult counterpart. Even more infrequent are extraneural metastases in glioblastoma. A previously well 14-year-old female presented with progressive right hemiparesis secondary to a left fronto-temporal lobe glioblastoma (WHO IV). She underwent successful gross total resection for her brain tumour. Prior to commencement of her adjuvant treatment, she developed tumour recurrence associated with intra-lesional haemorrhage. Although she underwent a second surgery, the patient developed bilateral malignant pleural effusion secondary to extraneural pulmonary metastases. Early awareness of its existence enables prompt diagnosis for this devastating disease. The authors emphasize the urgent need for international collaborations to work together for children affected by this challenging brain tumour.

Ishaemic stroke (IS) in the paediatric population is extremely rare. In this age group, the occurrence of IS often concurs with underlying congenital heart disease, haematological, metabolic or immunological conditions. In contrast, the association between IS and minor head injury in children has been sparse in current literature. The authors report a case of a healthy 9-month-old male who was found to have a right middle cerebral artery territory infarct after a minor head injury. An extensive medical workup was performed, and it was negative for any previously undiagnosed co-morbidities. Given the paucity of such cases, the condition and its management are discussed in corroboration with current literature.

Diffuse leptomeningeal glioneuronal tumour (DLGNT) is an extremely rare tumour involving the neuroaxis. At present, its exact pathogenesis and associated factors remain incompletely characterised. Recent molecular investigations in a small cohort have offered some insights into this disease. However, the role of germline findings has not yet been fully explored in affected patients. The authors present a case of DLGNT, focusing on the clinical and molecular features with reference to current disease knowledge. A 4-year-old male presented with raised intracranial pressure symptoms secondary to extensive leptomeningeal disease of the brain and spine. Preliminary impression was that of an inflammatory lesion. A lumbar biopsy of the lesion confirmed DLGNT on routine diagnostic examination. Further molecular analysis of his tumour and blood demonstrated a previously unreported TP53 exon 5 (c.147V > I) germline variant. Based on the latest DLGNT molecular subtyping classification, his tumour falls into the group with better clinical outcome. However, his germline findings may add an extra layer of uncertainty to his overall prognosis. Given that much remains unknown in many rare paediatric tumours at this stage, isolated findings found in an individual may be of significance. Supplementary genetic information, together with tumour molecular analysis, add to our current understanding of this uncommon disease. This case highlights the benefit of combined clinical and molecular efforts, including germline testing, especially for children affected by such challenging neoplasms.

Background Primary paediatric epidural sarcomas are extremely rare. Overall, there remains a paucity of knowledge in paediatric epidural sarcomas owing to the infrequent number of cases. The Archer FusionPlex Sarcoma Kit (ArcherDX, Inc) is a next-generation sequencing assay that has been reported to be a useful technique to detect recurrent fusion in sarcomas. We report the molecular exploration of 3 primary paediatric epidural sarcomas—one in the cranium (mesenchymal chondrosarcoma) and 2 in the spine (mesenchymal chondrosarcoma and Ewing sarcoma respectively). Case presentation This is a study approved by the hospital ethics board. Clinico-pathological information from 3 consenting patients with primary epidural sarcomas was collected. These selected tumours are interrogated via Archer FusionPlex Sarcoma Kit (ArcherDX, Inc) for genomic aberrations. Results were validated with RT-PCR and Sanger sequencing. All findings are corroborated and discussed in concordance with current literature. Our findings show 2 variants of the HEY1-NCOA2 gene fusion: HEY1 (exon 4)-NCOA2 (exon 13) and HEY1 (exon 4)-NCOA2 (exon 14), in both mesenchymal chondrosarcoma patients. Next, the Ewing sarcoma tumour is found to have EWSR1 (exon 10)-FLI1 (exon 8) translocation based on NGS. This result is not detected via conventional fluorescence in situ testing. Conclusions This is a molecularly-centered study based on 3 unique primary paediatric epidural sarcomas. Our findings to add to the growing body of literature for these exceptionally rare and malignant neoplasms. The authors advocate global collaborative efforts and in-depth studies for targeted therapy to benefit affected children.

Pilocytic astrocytomas (PCA) are WHO Grade I tumors with a favorable prognosis. Surgical resection is usually curative. Nonetheless, progressive and/or metastatic disease occurs in 20% of patients. For these patients, treatment options are limited. The role of the immune system in PCA has not previously been reported. We hypothesize that the circulating cytokines contribute to tumorigenicity in PCA. This is an exploratory study with a focus on the identification of circulating cerebrospinal (CSF) cytokines associated with PCA. The primary objective is to demonstrate that CSF cytokines will be differentially expressed in the subset of PCAs that are difficult to treat in comparison to their surgically amendable counterparts. This is a single-institution, retrospective study of prospectively collected data. Patients with a confirmed histological diagnosis of PCA who have simultaneous intraoperative CSF sampling are included. Cerebrospinal fluid samples are subjected to multiplex cytokine profiling. Patient-derived PCA lines from selected patients in the same study cohort are cultured. Their cell culture supernatants are collected and interrogated using the sample multiplex platform as the CSF. A total of 8 patients are recruited. There were two patients with surgically difficult tumors associated with leptomeningeal involvement. Multiplex profiling of the cohort’s CSF samples showed elevated expressions of IFN-γ, IL-2, IL-12p70, IL-1β, IL-4, and TNF-α in these two patients in comparison to the remaining cohort. Next, primary cell lines derived from the same PCA patients demonstrated a similar trend of differential cytokine expression in their cell culture supernatant in vitro. Although our findings are preliminary at this stage, this is the first study in pediatric PCAs that show cytokine expression differences between the two groups of PCA with different clinical behaviors.

Brain abscesses affect all age groups and are not peculiar to a particular country, race, or geographical location. It is a disease that, in the past, carried a high morbidity and mortality. With improvements in medical technology and expertise, outcomes have improved tremendously. The causative organisms vary vastly and have evolved with time. Treatment of brain abscesses is primarily with antimicrobial therapy but surgery plays a vital role in achieving better outcomes. In this article, we review the literature to find out how the epidemiology of this disease has changed through the years and re-visit the basic pathological process of abscess evolution and highlight the new research in the biochemical pathways that initiate and regulate this process. We also highlight how magnetic resonance imaging and its various modalities have improved diagnostic accuracy. Finally, we discuss the pros and cons of traditional open surgery versus newer minimally invasive methods.

Background Pediatric intracranial aneurysms are extremely rare. In this age group, cerebral vascular anomalies have been associated with the development of intracranial aneurysms. Case Description We present a case of a previously well 11-year-old boy who presented with seizures secondary to a giant, unruptured, and partially thrombosed right middle cerebral artery (MCA) aneurysm. Extensive workup for underlying infective and autoimmune etiology was negative. Of interest, this vascular lesion was found to originate from an anomalous M2 branch, which ran an aberrant parallel course within the Sylvian fissure to the main and distally bifurcating MCA. The patient underwent successful surgical clipping and excision of the giant aneurysm. Conclusions Because of the infrequency of the diagnosis, clinical presentation, and its unique neurovascular anatomy, the management of this case is discussed in corroboration with current literature. In addition, highlighting this unusual case in an individual adds to the growing body of literature for better disease understanding, especially in the pediatric population.

The natural history of Chiari I malformation (C1M) in the paediatric population is poorly understood. There are conflicting reports with regards to surgical indications, operative techniques and peri-operative prognostic indicators. In this paper, we report our institutional experience in the management of paediatric C1M. The workflow process which includes preferred imaging modalities, surgical techniques and indications for intervention is discussed. In particular, we describe one of our current projects—an in-house designed Seow Operative Score (SOS) as a feasibility scoring system for neurosurgical intervention in our local cohort of paediatric C1M patients. In our series, we have 2 groups: 10 non-operated patients versus 19 operated patients. In the non-operated group, the majority of patients had a SOS of 0 to 1. One patient had a score of 2.5 and was kept under close surveillance. Follow-up imaging demonstrated resolution of the cerebellar herniation and intraspinal syrinx. In the operated group, 17 patients had a SOS of 3 or more. Two patients had a SOS of 2. For these 2, 1 developed progressive symptoms, and the other had an extensive cervico-thoracic syrinx. Decision was made for surgery after a period of surveillance. In this paper, we report our institutional experience in managing paediatric C1M and, at the same time, highlight salient points of our practices. Meanwhile, we advocate collective global efforts and in-depth research for better disease understanding of this challenging condition.

Langerhans Cell Histiocytosis is a rare disease featuring aberrant proliferation of dendritic cells that can infiltrate the bony skeleton. The authors report a case of six-year-old female presenting with torticollis. She was found to have extensive lytic LCH lesions in the cranio-cervical junction, causing atlanto-axial rotatory subluxation. Decision was made for a non-surgical approach to treat the patient. She was placed in a Halo brace, and given concomitant chemotherapy. Post-treatment imaging demonstrated near-complete reconstitution of the skeleton affected by LCH. This case highlights the feasibility of non-surgical treatment in selected LCH patients at high-risk of spinal instability. Keywords: Atlanto-axial subluxation, Langerhans cell histocytosis, Torticollis

Cryptococcosis is a fungal infection caused by Cryptococcus spp. that enters the body via inhalation. This ubiquitous yeast has gained notoriety as an opportunistic pathogen in the immunosuppressed population. The authors report a case of a previously-well adult male presented with left-sided weakness. Imaging demonstrated a pulmonary mass and 2 contrast-enhancing intracranial lesions-all features suggestive of a primary lung carcinoma with brain metastases. However, further investigations confirmed disseminated cryptococcosis, without evidence of malignancy. The patient was successfully treated with a course of antifungals. To the authors' knowledge, this is the first reported case of dissemintated cryptococcosis in an immunocompetent adult male, simulating as primary lung carcinoma with brain metastases.

Assessment of cancer predisposition syndromes (CPS) in childhood tumours is challenging to paediatric oncologists due to inconsistent recognizable clinical phenotypes and family histories, especially in cohorts with unknown prevalence of germline mutations. Screening checklists were developed to facilitate CPS detection in paediatric patients; however, their clinical value have yet been validated. Our study aims to assess the utility of clinical screening checklists validated by genetic sequencing in an Asian cohort of childhood tumours. We evaluated 102 patients under age 18 years recruited over a period of 31 months. Patient records were reviewed against two published checklists and germline mutations in 100 cancer-associated genes were profiled through a combination of whole-exome sequencing and multiplex ligation-dependent probe amplification on blood-derived genomic DNA. Pathogenic germline mutations were identified in ten (10%) patients across six known cancer predisposition genes: TP53, DICER1, NF1, FH, SDHD and VHL. Fifty-four (53%) patients screened positive on both checklists, including all ten pathogenic germline carriers. TP53 was most frequently mutated, affecting five children with adrenocortical carcinoma, sarcomas and diffuse astrocytoma. Disparity in prevalence of germline mutations across tumour types suggested variable genetic susceptibility and implied potential contribution of novel susceptibility genes. Only five (50%) children with pathogenic germline mutations had a family history of cancer. We conclude that CPS screening checklists are adequately sensitive to detect at-risk children and are relevant for clinical application. In addition, our study showed that 10% of Asian paediatric solid tumours have a heritable component, consistent with other populations., Cancer: Screening checklists catch Asian children at risk of hereditary tumours Existing checklists designed to screen children for a genetic predisposition to cancer are sensitive enough to detect at-risk individuals in an Asian population. Joanne Ngeow from the National Cancer Centre Singapore and colleagues reviewed the medical records of 102 paediatric patients diagnosed with cancer and profiled for inherited mutations in 100 cancer-associated genes. They crosschecked the records against two published screening instruments used by clinical geneticists to identify patients with a hereditary cancer risk. Although only ten patients harboured known cancer predisposition mutations, the checklists flagged 54 individuals. However, all ten pathogenic gene carriers screened positive on the diagnostic aids. The checklists thus seem to err on the side of over-identification and don’t miss many true cases of hereditary cancer in this Asian population.

Introduction Leptomeningeal disease is a feared sequelae of malignant paediatric brain tumours. Current methods for its detection is the combined use of cranio-spinal MRI, and CSF cytology from a post-operative lumbar puncture. In this study, the authors hypothesize that CSF taken at the start of surgery, either from an external ventricular drain or neuroendoscope will have equal sensitivity for positive tumour cells, in comparison to lumbar puncture. Secondary hypotheses include positive correlation between CSF cytology and MRI findings of LMD. From a clinical perspective, the key aim of the study was for affected paediatric patients to avoid an additional procedure of a lumbar puncture, often performed under anaesthesia after neurosurgical intervention. Methods This is single-institution, retrospective study of paediatric patients diagnosed with malignant brain tumours. Its main aim was to compare cytological data from CSF collected at the time of surgery versus data from an interval lumbar puncture. In addition, MRI imaging of the same cohort of patients was examined for leptomeningeal disease and corroborated against CSF tumour cytology findings. Results Thirty patients are recruited for this study. Data analysis demonstrates a statistically significant association between our intra-operative CSF and LP sampling. Furthermore, our results also show for significant correlation between evidence of leptomeningeal disease on MRI findings versus intra-operative CSF positivity for tumour cells. Conclusion Although this is a retrospective study with a limited population, our data concurs with potential to avoid an additional procedure for the paediatric patient diagnosed with a malignant brain tumour.