bluuebunny/crossref_metadata_2025_split huggingface dataset:
LGG-56. INFANTILE HEMISPHERIC BRAIN TUMOR WITH A GOPC-ROS1 FUSION GENE: A CASE REPORT
Authors: Taniguchi Rieko , Natsume Atsushi , Kawashima Nozomu , Tanioka Shinji , Muramatsu Hideki , Hamada Motoharu , Ichikawa Daisuke , Imaya Masayuki , Narita Kotaro , Kurimoto Michihiro , Shiba Yoshiki , Aoki Kosuke , Ohka Fumiharu , Hirato Junko , Wakabayashi Toshihiko , Takahashi Yoshiyuki 
Published: December 2020

Abstract

INTRODUCTION
Infantile hemispheric gliomas with ROS1 fusion genes have been reported to have a relatively poor prognosis. Treatment using a ROS1 inhibitor is expected to generate less toxicity and effective for brain tumors with ROS1 fusion genes. CASE PRESENTATION: A one-month-old female presented with a seizure, and a large hypervascular mass in the right hemisphere was found on MRI. The tumor was not biopsied over concerns of an increased risk for bleeding. The mass was clinically diagnosed as an atypical teratoid rhabdoid tumor. She received neoadjuvant chemotherapy using the modified EU-RHAB protocol. The tumor gradually decreased to 70% of its original size with a reduction of vascularity. A near-total resection (&gt; 95%) was performed at eight months of age. Pathological examination revealed the unusual histology with immunostaining positive for INI-1, GFAP, synaptophysin, neurofilament, and slightly positive for NeuN. MIB-1 labeling index was 6%. The pathological diagnosis was a glioneuronal tumor with desmoplastic infantile ganglioglioma-like features, suggestive of low grade. She received adjuvant chemotherapy with carboplatin and vincristine, which is the standard treatment for low-grade gliomas, and achieved a partial response. The GOPC-ROS1 fusion gene was detected in the tumor by FoundationOneⓇ CDx.

CONCLUSION
Chemotherapy may effectively reduce the size of an infant’s brain tumor which is initially considered to be inoperable. A gene profile should be performed as soon as possible in order to direct appropriate management.
LINC-05. PRIMARY CENTRAL NERVOUS SYSTEM EWING SARCOMA IN PEDIATRIC AND AYA PATIENTS: 2 INSTITUTIONS EXPERIENCE IN BUENOS AIRES ARGENTINA
Authors: Palomar Roberto Nicolas , Yorio Florencia , Alessandro Lucas , Arakaki Naomi , Muggeri Alejandro , Lombardi Mercedes Garcia , Diez Blanca 
Published: December 2020

Abstract

INTRODUCTION
Ewing Sarcoma (ES) is defined by molecular markers, being t(11;22)(q24;q12) the most frequent. Intracranial ES usually shows as metastases from extracranial sites. Primary central nervous system (CNS) lesions are extremely rare.

MATERIAL AND METHODS
Retrospective review of clinical records from patients with primary CNS ES, assessed at 2 institutions in Argentina between 2007–2019. Translocation was evidenced in all cases through molecular testing. Clinical characteristics, imaging, histopathology, and treatment response were evaluated. Extracranial and osseous lesions were excluded.

RESULTS
15 patients. Median age at beginning of symptoms: 8 yo (2–20). Most patients had intracranial hypertension syndrome (14/15). In brain MRI, 5/15 supratentorial lesions, 4/15 posterior fosa, 1/15 medullary, 2/15 supra and infratentorial, and 3/15 lesions diffuse leptomeningeal infiltration. Histopathologic findings showed diffuse pattern with small round blue cells in most cases, other patterns were also described. CD99 marked positive in all cases. Misdiagnosis with glial tumors (4/15), medulloblastoma (6/15) and infectious diseases (3/15); led to median delay to accurate diagnosis of 3 months (range 0–67). After correct diagnosis patients were treated with standard ES treatment (6 VIDE cycles plus radiotherapy) in 14/15 patients. Vincristine, irinotecan and temozolamide was used as second line treatment in all relapse cases whenever possible. EFS was 22 months (2- 65). OS at 5 years of follow-up was 46,67% (mean OS 31 mo).

CONCLUSION
Even though molecular assessment led to accurate diagnosis in all cases, treatment response and outcome showed two different groups of patients with long and very short survival. Adaptative therapy should be considered.
LINC-13. THE STATE OF PEDIATRIC NEURO-ONCOLOGY IN ARMENIA
Authors: Bardakhchyan Samvel , Tananyan Armen , Danielyan Samvel , Arakelyan Jemma , Mkhitaryan Sergo , Bedirian Karen , Safaryan Liana , Arustamyan Mikayel , Tamamyan Gevorg 
Published: December 2020

Abstract

BACKGROUND
Every year in Armenia we have approximately 80–90 new pediatric cancer cases from which 10–15 are brain tumors (PBT). Here we try to summarize the current state of pediatric neuro-oncology in Armenia. DISCUSSION: In Armenia pediatric neuro-oncology is still in its first steps. Surgical treatment of PBTs is performed only in one medical center – “Sourb Astvatsamayr” Medical Center, with 7 practicing pediatric neurosurgeons. Radiation therapy service with two linear accelerators is located at the “National Oncology Center”, however there are no dedicated pediatric radiation neuro-oncologists, and 2 specialists are treating pediatric tumors. Chemotherapy for all pediatric cancers currently is performed at the Pediatric Cancer and Blood Disorders Center of Armenia, established in February 2019 as a result of merging of all pediatric oncology units in the country. Among the 11 practicing pediatric hematologist/oncologists no one is dedicated specifically to PBTs. Since September 2017 we have started discussing all PBT cases (up to now 18 cases) through the telemedicine with St. Jude Children’s Research Hospital (SJCRH). In Sept 2019 neuro-oncology multidisciplinary team was created with the involvement of local and foreign specialists. On a weekly basis the multidisciplinary team discusses all new and problematic cases. The team also concentrates on adaptation of diagnostic and treatment guidelines for pediatric CNS tumors, creation of educational materials for different stakeholders, and identification of current problems and their possible solutions.

CONCLUSION
To the best of our knowledge this is the first report summarizing the current state of pediatric neuro-oncology in Armenia.
LINC-18. FOLLOW-UP EVALUATION OF A WEB-BASED PEDIATRIC BRAIN TUMOR BOARD IN LATIN AMERICA
Authors: Obando Mariel Rosabal , Osorio Diana S , Lassaletta Alvaro , Madrid Andrés Morales La , Bartels Ute , Finlay Jonathan L , Qaddoumi Ibrahim , Rutkowski Stefan , Mynarek Martin 
Published: December 2020

Abstract

BACKGROUND
Since 2013, pediatric oncologists from Latin America have discussed neuro-oncology cases with experts from North America and Europe in a web-based “Latin American Tumor Board” (LATB). This descriptive study evaluates the feasibility of the recommendations rendered during the Board.

METHODS
An electronic questionnaire was distributed to physicians who received recommendations between October 2017 and October 2018, two months after their case presentation on the LATB. Physicians were asked regarding the feasibility of each recommendation given during the Board. Baseline case characteristics of all presented cases were obtained from anonymized minutes prepared after the presentations.

RESULTS
36 physicians from 15 countries answered 103 of 142 questionnaires (72.5%), containing 283 recommendations. Physicians followed 60% of diagnostic procedural recommendations and 70% of therapeutic recommendations. Overall, 96% of respondents considered the recommendations applicable and useful. The most difficult recommendations to follow were genetic and molecular testing, pathology review, locally adapted chemotherapy protocols administration, neurosurgical interventions and access to molecular targeted therapies. The most cited reasons for not implementing the recommendations were lack of resources, inapplicable recommendations to that low-to-middle income country (LMIC) setting, and lack of parental consent.

CONCLUSION
The recommendations given on the LATB are frequently applicable and helpful for physicians in LMIC. Nevertheless, limitations in availability of both diagnostic procedures and treatment modalities affected the feasibility of some recommendations. Virtual tumor boards offer physicians from LMIC access to real time, high-level subspecialist expertise and provide a valuable platform for information exchange among physicians worldwide.
LINC-27. PAEDIATRIC SUPRASELLAR TUMOURS: CLINICAL EXPERIENCE FROM A SINGLE TERTIARY CENTRE IN KUALA LUMPUR, MALAYSIA
Authors: Alias Hamidah , Loh C-Khai 
Published: December 2020

Abstract

INTRODUCTION
The outcome of suprasellar tumours in children varies with the diagnosis and morbidity is significant. We herein report the clinical features of children with suprasellar tumours treated at our centre.

METHODS
Clinical data were collected by retrospective review from January 2000 to December 2019. The patients were identified from the paediatric haematology and oncology unit registry.

RESULTS
There was a total of 103 children with brain tumour and suprasellar tumours comprise of 14.6% (n=15). Median age at presentation was 7 years old. Male to female ratio was 3:2. Majority of cases was low grade glioma, 40% (n=6) and germ cell tumour(GCT) 33.3% (n=5) followed by craniopharyngioma, 13.3% (n=2) and Rathke cleft cyst, 6.7% (n=1). All patients had tissue diagnosis except one with secreting GCT and one with unsatisfactory tissue sample. Mean duration of follow up was 7.4 years. One patient with germinoma was lost to follow-up after radiotherapy. Three out of 13 (23%) patients died; 2 with GCT from disease progression; 1 craniopharyngioma after 11 years of unknown cause. All survivors have significant morbidity; 70% have moderate to severe visual impairment, 90% have at least two pituitary hormones deficiency, 20% have neurological deficit and 1 was surgically related. Two boys have precocious puberty not related to disease progression. Two with GCT with diabetes insipidus had history of thromboembolism (stroke and pulmonary embolism).

CONCLUSIONS
Suprasellar tumours in children at our centre pose a significant long-term complications and multidisciplinary team management and follow up is required to improve the morbidity.
LINC-28. EPIDEMIOLOGICAL CHARACTERISTICS AND SURVIVAL OUTCOMES OF CHILDREN WITH MEDULLOBLASTOMA TREATED AT THE NATIONAL CANCER INSTITUTE (INCA) IN RIO DE JANEIRO, BRAZIL
Authors: Oigman Gabriela , Osorio Diana , Stanek Joseph , Finlay Jonathan , Vianna Denizar , Ferman Sima 
Published: December 2020

Abstract

BACKGROUND
Medulloblastoma (MB), the most malignant brain tumor of childhood has survival outcomes exceeding 80% for standard risk and 60% for high risk patients in high-income countries (HIC). These results have not been replicated in low-to-middle income countries (LMIC), where 80% of children with cancer live. Brazil is an upper-middle income country according to World Bank, with features of LMIC and HIC.

METHODS
We conducted a retrospective review of 126 children (0–18 years) diagnosed with MB from 1997 to 2016 at INCA. Data on patients, disease characteristics and treatment information were retrieved from the charts and summarized descriptively; overall survival (OS) and event-free survival (EFS) were calculated using the Kaplan-Meier Method.

RESULTS
The male/female ratio was 1.42 and the median age at diagnosis was 7.9 years. Headache (79%) and nausea/vomiting (75%) were the most common presenting symptoms. The median time from onset of symptoms to surgery was 50 days. The OS for standard-risk patients was 69% and 53% for high-risk patients. Patients initiating radiation therapy within 42 days after surgery (70.6% versus 59.6% p=0.016) experienced better OS. Forty-five patients (35%) had metastatic disease at admission. Lower maternal education correlated with lower OS (71.3% versus 49% p=0.025). Patients who lived &gt;40km from INCA fared better (OS= 68.2% versus 51.1% p=0.032). Almost 20% of families lived below the Brazilian minimum wage.

CONCLUSIONS
These findings suggest that socioeconomic factors, education, early diagnosis and continuous data collection, besides oncological treatment must be adressed to improve the survival of children with MB.
LINC-31. TREATMENT OUTCOME IN CHILDREN WITH MEDULLOBLASTOMA IN MEDIUM-INCOME COUNTRY: AN EXPERIENCE FROM A SINGLE TERTIARY CENTRE IN KUALA LUMPUR, MALAYSIA
Authors: Loh C-Khai , Alias Hamidah , Lau Doris 
Published: December 2020

Abstract

INTRODUCTION
Medulloblastoma is the most common malignant brain tumour in children. The overall outcome has improved however, this was not translated to developing nations.

METHOD
This was a retrospective review of patients from January 2000 to December 2017. Treatment was given using modified SIOP PNET 4 protocol: cranio spinal irradiation (CSI), a total of 54G with vincristine followed by 8 cycles of adjuvant chemotherapy. Prior to year 2007, patients had CSI with or without adjuvant chemotherapy. Those &lt;3 years old received modified UKCCSG/SIOP CNS protocol with 2 weekly chemotherapy for a duration of 392 days followed by CSI when required. All patients had MRI brain and spine, and tissue histopathological examination but without molecular subtype.

RESULTS
Medulloblastoma comprised of 30% (n=31) out of total 103 brain tumour cases. Mean age at presentation was 7.6 years old (SD 4.4) with male to female ratio of 2:1. Average time of symptoms was 4.8 weeks. Majority, 77.4% was high risk and 19.4% was standard risk. There was high treatment abandonment rate (35.5%, n=11). Three patients returned and completed treatment after multiple surgeries in an average of 9 months. Three years OS and EF were 69.6% and 74.8%, respectively. Six patients aged &lt; 3years; half had advance disease on palliative care post surgery. Other survivors had severe learning difficulty and two had second malignancy (meningioma and thyroid carcinoma) at average 15.5 years after diagnosis.

CONCLUSION
Strategy to reduce treatment abandonment is crucial. Moreover, multidisciplinary management and molecular stratification are important in improving the outcome.
LINC-33. MULTIMODALITY MANAGEMENT OF PAEDIATRIC PRIMARY CENTRAL NERVOUS SYSTEM LYMPHOMA- UPDATED EXPERIENCE FROM A REGIONAL CANCER CENTRE IN NORTH INDIA
Authors: Biswas Ahitagni , Roy Swarnaditya , KN Yousra , Bakhshi Sameer , Suri Vaishali , Sharma Mehar , Julka Pramod 
Published: December 2020

Abstract
Paediatric primary central nervous system lymphoma(PCNSL) constitutes 1% of all PCNSLs. Data pertaining to paediatric PCNSL (2016–19) was abstracted by retrospective chart review. We identified 7 paediatric patients with PCNSL. None had congenital or acquired immunodeficiency. The median age at presentation was 13 years. The male to female ratio was 4:3. The median ECOG performance status was 2. On neuro-imaging, 3 patients had solitary and 4 patients had multiple lesions. CSF cytology showed atypical cells in 1 patient. None had ocular involvement. Systemic lymphoma work-up was negative in all. Biopsy and resection of tumour were done in 4 patients each. Histopathology revealed DLBCL in 6 and B-cell NHL in 1 patient. All patients underwent induction chemotherapy (median-5 cycles)- modified DeAngelis protocol (IV Methotrexate-2.5g/m2,IT Methotrexate-12 mg,Vincristine,Procarbazine and Rituximab-375mg/m2 every 2 weeks) in 6 and single agent Methotrexate -3.5g/m2 every 3 weeks in 1 patient. Severe haematological toxicities included grade 3 neutropenia, leucopenia and febrile neutropenia in 2,1 and 1 patient respectively. Radiotherapy(RT) was administered in all-whole brain RT(36-45Gy/20-25fractions/4-5weeks) in 6 patients and craniospinal RT(36Gy/18fractions/3.5weeks) followed by whole brain RT(9Gy/5fractions/1week) in 1 patient(with positive CSF cytology). Subsequently consolidation chemotherapy with 2 cycles of Cytarabine(3g/m2 IV D1-2 every 3 weeks) was administered in 5 patients. After a median follow-up of 14 months(mean-18.2 months), all patients are in complete radiological remission. Paediatric PCNSL is a rare tumour entity and multimodality management with high dose Methotrexate and Rituximab based chemo-immunotherapy and cranial radiotherapy leads to excellent early clinical outcome.
LINC-34. OPTIC NERVE INFILTRATION: RARE MANIFESTATION OF CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA IN REMISSION
Authors: Rahmartani Ludi Dhyani 
Published: December 2020

Abstract

BACKGROUND
Optic nerve infiltration in acute lymphoblastic leukemia is a rare manifestation. This infiltration may appear months in advance as an isolated sign of extramedullary relapse and considered as one of the significant clinical findings of central nervous system leukemia. AIM: To describe a case of rapidly progressive optic nerve infiltration in a girl with ALL in remission. CASE: A 13-year-old girl in full remission following treatment for B-cell acute lymphoblastic leukemia presented with decreased vision and proptosis on the left eye. She completed the chemotherapy course two years before. On physical examination, we found the optic disc swelling in her left eyes. There were no signs of relapse from the hematological, cerebrospinal fluid analysis, and bone marrow aspiration. The orbital CT found a mass on the left retrobulbar (size 29x48x32 mm), suspected of optic nerve glioma. The mass has grown rapidly in a month, and she lost her left sight. The involved eye was exenterated (60x55x40 mm). The histopathology and immunohistochemistry showed the B-cell acute lymphoblastic lymphoma. Unfortunately, the patient could not come for further follow up due to the COVID-19 large-scale social distancing. Two months later, she came with pallor and pain in all of her body. The bone marrow aspiration showed leukemic relapse and she is undergoing chemotherapy.

CONCLUSION
Optic nerve infiltration by leukemia requires both diagnostic certainty and urgent management. A routine ophthalmic assessment is recommended in patients with a history of acute lymphoblastic leukemia to diagnose optic nerve involvement due to leukemic infiltration.
LINC-36. TRILATERAL RETINOBLASTOMA: A REPORT OF FOUR CASES
Authors: Rahmartani Ludi Dhyani 
Published: December 2020

Abstract
Retinoblastoma is the most common primary malignant intraocular cancer that usually develops in early childhood. About 5% of those patients are at risk of developing trilateral retinoblastoma (TRB). In developing countries, most of them came in the late stage; therefore, ocular and patient survival rates are lower than in developed countries. From 2015–2019, we found four cases of trilateral retinoblastoma. Two of them had bilateral retinoblastoma, and two had unilateral retinoblastoma. They all presented with leukocoria and had no family history of retinoblastoma. The mean age was 13.8 months (range 9–24 months of age). The diagnosis of trilateral retinoblastoma was made from initial head CT/MRI. They were treated conservatively with high dose VEC chemotherapy, and three of them have died during treatment. Trilateral retinoblastoma is usually fatal and needs multidisciplinary treatment care. In developing countries, it is important to evaluate distant metastasis. Head CT or MRI from the initial diagnosis to exclude the trilateral retinoblastoma.
LINC-43. FACTORS LEADING TO DIAGNOSTIC DELAY FOR CHILDREN WITH PRIMARY TUMORS OF CENTRAL NERVOUS SYSTEM (CNS) IN QATAR
Authors: Yousif Tayseer , Saleh Ayman , Maaz Ata 
Published: December 2020

Abstract

INTRODUCTION
Median time to diagnosis for primary CNS tumors for children in Qatar has been reported to be 28 days. However, a wide variation in diagnostic times is seen. This study was undertaken to analyze the factors leading to delay in diagnosis.

METHODS
Data were retrospectively analyzed for children who had diagnostic delay (more than 28 days) from September 2006 to February 2020. Presenting symptoms, number and type of healthcare contacts and presenting symptom interval (PSI) were reviewed. Parental delay (PSI-1) was defined as the date of onset of first symptom to the date of first healthcare contact. Healthcare delay (PSI-2) was defined as date of first healthcare contact to the date of diagnostic scan.

RESULTS
Twenty-four patients were identified with diagnostic delay. Median age at diagnosis was 48.2 (range 5.4–171.6) months with an equal sex distribution. Fifteen (62.5%) patients were older than 3 years, 13(54%) patients had low grade glioma, 16 (66.7%) had supratentorial tumors and 12 (50%) presented with raised intracranial pressure. Diagnosis was made after a median 3 (range 1–8) healthcare contacts. Nineteen (79%) patients presented to primary care. Median PSI was 132 (31–783) days. Parental delay (PSI-1) was 35 (0–496) days, while healthcare delay (PSI-2) was 41 (0–562) days. Endocrine (241 days) and oculo-visual (184 days) symptoms were associated with the longest PSI.

CONCLUSIONS
There was no significant difference between parental and healthcare delay. Endocrine and oculo-visual symptoms were associated with longest PSI. Increased awareness is required for early recognition of signs suggestive of CNS tumors.
MBCL-03. RESULTS OF HIGH-DOSE THIOTEPA, CARBOPLATIN AND ETOPOSIDE WITH AUTOLOGOUS HEMATOPOIETIC STEM-CELL TRANSPLANTATION FOR PATIENTS WITH RECURRENT MEDULLOBLASTOMA
Authors: Gevorgian Asmik , Tolkunova Polina , Kazantsev Ilya , Iukhta Tatiana , Kozlov Andrew , Zvyagintseva Darya , Morozova Elena , Zubarovskaya Ludmila , Afanasiev Boris , Zheludkova Olga , Punanov Yury 
Published: December 2020

Abstract

AIM
Medulloblastoma is a highly lethal disease when it recurs. Very few patients survive with second line conventional treatment after relapse. This study evaluated the use of high-dose thiotepa, carboplatin and etoposide with autologous hematopoietic stem-cell transplantation (HSCT) in patients with recurrent medulloblastoma.

METHODS
From 2010 to 2019, 60 patients at the age 4–32 years (median, 12) with recurrent medulloblastoma were received high-dose chemotherapy (HDCT) with auto-HSCT after induction second line chemotherapy. HDCT included thiotepa 150 mg/m2 #4; carboplatin 500 mg/m2 #4; etoposide 250 mg/m2 #4 and +/- etoposide 1 mg intraventricular on days #5 if patient had Ommaya reservoir; followed by HSCT. At the moment of HDCT 24 patients were in complete response (CR), 31 patients were in partial response (PR) and 5 patients had stable disease (SD) after second line conventional chemotherapy.

RESULTS
The median follow-up is 65 months (range, 24–227). The median time to engraftment after auto-HSCT was day +11 (range, 8–39). Five-year overall survival (OS) was 58% and disease free survival (DFS) was 46%. DFS was significantly better among patients in CR or PR 50% in compared to children in SD 20% at the moment of HDCT (p=0,002). Transplant related mortality were 12%, there were 7 patients died because of severe complications within 14 days after transplantation.

CONCLUSIONS
HDCT with auto-HSCT in pediatric patients with recurrent medulloblastoma may be a feasible option for cases who had CR or PR after induction chemotherapy. It is ineffective as a salvage therapy in refractory patients.