Purpose: Primary germ cell tumors (GCTs) are the most common central nervous system (CNS) neoplasm in patients with Down syndrome (DS). However, a standard-of-care has not been established due to a paucity of data. Methods: A retrospective multi-institutional analysis was conducted, in addition to a comprehensive review of the literature. Results: Ten patients from six institutions (five USA, one Brazil) were identified, in addition to 31 patients in the literature from 1975 to 2021. Of the 41 total patients (mean age 9.9 years; 61% male), 16 (39%) had non-germinomatous germ cell tumors (NGGCTs), 16 (39%) had pure germinomas and eight (19.5%) had teratomas. Basal ganglia was the most common tumor location (n=13; 31.7%), followed by posterior fossa (n=7; 17%). Nine patients (22%) experienced disease relapse or progression, of which four died from tumor progression (one germinoma, three teratomas). Sixteen patients (39%) experienced treatment-related complications, of which eight (50%) died (five germinomas, three NGGCTs). Of the germinoma patients, two died from chemotherapy-related sepsis, one from post-surgery cardiopulmonary failure, one from pneumonia and one from Moyamoya following radiation-therapy (RT). Of the NGGCT patients, one died from chemotherapy-related sepsis, one from post-surgical infection and one from pneumonia following surgery/chemotherapy/RT. Three-year overall survival was 66% for all histological types – 62% germinomas, 79% for NGGCTs, and 53% for teratomas. Conclusion: Patients with DS treated for CNS GCTs are at an increased risk of treatment-related adverse events. A different therapeutic approach may need to be considered to mitigate treatment-related complications and long-term neurocognitive sequelae.

Background: Medulloblastoma is the most common malignant brain tumor in children. We aim to determine the survival in children with medulloblastoma at the Instituto Nacional de Enfermedades Neoplasicas (INEN) between 1997 to 2013 in Peru, a low-middle income country at the time of this analysis. We also describe the barriers and factors influencing outcomes. Methods: Between 1997-2013, data from 103 children older than 3 years with medulloblastoma were analyzed. Two groups of treatment were identified 1997 – 2008 and 2009 – 2013. Event-free (EFS) and overall survival (OS) were obtained using Kaplan-Meier method and prognostic factors by univariate analysis (log-rank test). A survey was created to identify factors that may have influenced outcome. Results: Eighty-nine patients were included; median age was 8.1 years (range: 2.9-13.9 years). Surgical resection was complete in 39 patients. The five-year OS was 63% (95% CI: 53 – 74%) while EFS was 59% (95% CI: 49 – 71%). The variables adversely affecting survival were: anaplastic histology [compared to desmoplastic; OS: HR=3.5, p=0.03; EFS: HR=3.4, p=0.03], metastasis [OS: HR=3.4, p=0.01; EFS: HR=4.4, p=0.003], and treatment post-2008 [OS: HR=2.5, p=0.01; EFS: HR=2.5; p=0.01]. Conclusions: Outcomes for Medulloblastoma at INEN are low compared with high- income countries (HIC). Univariate analysis demonstrated that histological sub-type, metastasis at diagnosis, and treatment post-2008 all negatively affected outcomes in our study. The importance of multidisciplinary teamwork in the care of children with pediatric brain tumors as well as partnerships with loco-regional groups and colleagues in HIC is vastly beneficial.

Background: Childhood acute lymphoblastic leukemia (ALL) fortunately has high survival rates, and understanding longer-term implications of therapy is critical. In this study, we aimed to investigate kidney health outcomes by assessing the prevalence of renal dysfunction and hypertension (HTN) in children with ALL at one to five years after ALL diagnosis. Methods: This was a single center, cross-sectional study of children with ALL who were 1-5 years post diagnosis. GFR measurements were calculated, and urine samples were collected to assess for protein/creatinine and albumin/creatinine. Blood pressure (BP) was determined by standard oscillometric technique, and children >6 years of age were eligible for ambulatory blood pressure monitoring (ABPM). Results: Forty-five patients enrolled in the study, 21 completed ABPMs. Fifteen patients (33%, 95% CI: 20-49%) developed AKI at least once. Thirteen (29%, 95% CI: 16-44%) had hyperfiltration, and 11 (24%) had abnormal proteinuria and/or albuminuria. Prevalence of HTN based on clinic measurements was 42%. In the 21 ABPM patients, 14 had abnormal results (67%, 95% CI: 43-85%) with the majority (11/21) demonstrating abnormal nocturnal dipping pattern. . Conclusions: Among children with ALL, there is a high prevalence of past AKI. The presence of hyperfiltration, proteinuria and/or albuminuria at 1-5 years after ALL diagnosis suggest real risk of developing CKD over time. There is a high prevalence of HTN on casual BP readings and even higher prevalence of abnormal ABPM in this group. The high prevalence of impaired nocturnal dipping by ABPM indicates an increased risk for future cardiovascular or cerebral ischemic events.

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. METHODS: Retrospective review of 114 children (3-18 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 1.32 and the median age at diagnosis was 8.2 years. Headache (83%) and nausea/vomiting (78%) were the most common presenting symptoms. Overall survival (5y) was 59,1% and EFS (5y) was 58,4%. The OS for standard-risk patients was 69% and 53% for high-risk patients. Forty-five patients (35%) had metastatic disease at admission. Lower maternal education correlated with lower OS (71.3% versus 49% p=0.25). Patients who lived >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: The epidemiological characteristics of this series possibly explain the differences in survival that medulloblastoma patients have in Brazil. Issues related to limited health care resources, poverty, delayed diagnosis, treatment abandonment, and malnutrition are reflected in inferior survival outcomes when compared to high-income countries. Despite the difficulties encountered in an upper-middle income country, it was possible to deliver treatment with good results.