Diffuse Pediatric-type High-grade Glioma Arising in an Ovarian Mature Cystic Teratoma.

Immature neuroectodermal tissue can be found in the ovary as part of an immature teratoma or as part of a teratoma with malignant neuroectodermal transformation. Such lesions may closely resemble central nervous system tumors, but their biologic similarity is unclear. We describe an 18-yr-old female who presented with abdominal pain caused by an ovarian mass with widespread metastases. Histology showed a primitive, high-grade tumor arising in the background of a mature teratoma. The tumor was SOX10 positive, with focal expression of GFAP, S100, NSE, and synaptophysin. Molecular analysis demonstrated co-amplification of PDGFRA and KIT , alterations common in high-grade gliomas. By whole-genome methylation profiling, it clustered into the "diffuse pediatric-type high-grade glioma, RTK1 subtype, subclass c" group. Despite progressing through 2 lines of chemotherapy with widespread metastatic disease, she achieved an excellent response to chemotherapy directed toward aggressive germ cell tumors. This case emphasizes the importance of immunohistochemical, genomic, and epigenetic analyses to accurately classify these exceedingly rare tumors and determine the optimal therapy.

Well-Differentiated Neuroendocrine Tumors of the Appendix in Children and Adolescents: A Clinicopathologic Study.

BACKGROUND AND AIMS: Pediatric neuroendocrine tumors (NET) of the GI tract are rare and appendiceal NET are typically incidental. Few studies have been done in the pediatric population and practice guidelines are mainly based on adult data. There are currently no diagnostic studies specific for NET. Our study aimed to identify clinical, radiological, and pathological findings in pediatric appendiceal NET, test criteria for follow up surgical treatment, review potential prognostic pathological findings, and possible pre-operative diagnostic radiological studies. MATERIALS AND METHODS: A retrospective data search was conducted for well-differentiated NET of the appendix in patients ≤21 years between 1/1/2003 and 7/1/2022. Available clinical, radiologic, pathological, and follow-up information was recorded. RESULTS: Thirty-seven patients with appendiceal NET were identified. No masses were reported in the patients who underwent presurgical imaging. Appendectomy samples showed NET (0.2->4 cm), most located in the tip. Most cases were WHO G1 (34/37), with negative margins (n = 25). Sixteen cases extended to the subserosa/mesoappendix (pT3). Lymphovascular (6), perineural (2), and both lymphovascular and perineural invasion were also noted (2). The specified tumor stages were pT1 (10/37), pT3 (16/37), and pT4 (4/37). Patients who underwent laboratory testing for chromogranin A (20) and urine 5HIAA (11) had normal limits. Subsequent surgical resection was recommended in 13 cases and performed in 11. To date, all patients have no recurrent or additional metastatic disease. CONCLUSIONS: Our study showed that all pediatric well-differentiated appendiceal NET were incidentally found as part of acute appendicitis management. Most NET were localized with low-grade histology. Our small cohort support the previously suggested management guidelines with follow up resection in certain cases. Our radiologic review didn't identify a best modality for NET. Comparing cases with and without metastatic disease, no tumors under 1 cm had metastasis, but serosal and perineural invasion along with G2 status were associated with metastasis in our limited study.

Comparing internal versus external carotid artery branch delivery of intraarterial chemotherapy for the treatment of retinoblastoma.

PURPOSE: The goal of this study was to compare the efficacy of intraarterial chemotherapy (IAC) for retinoblastoma delivered via the ophthalmic artery (OA) division of the internal carotid artery (ICA) versus alternative branches of the external carotid artery (ECA). METHODS: We performed a retrospective chart review of patients receiving IAC for retinoblastoma at a single institution. Subjects were divided into three groups: those that received IAC solely through the OA branch of the ICA, those that initially received IAC through the OA branch of the ICA but were later switched to the ECA, and those that only received IAC through the ECA. The main outcomes compared included globe salvage rate and reduction in tumor thickness and size. RESULTS: A total of 30 eyes from 26 patients were included. A total of 91 (58%) sessions of IAC were performed through the OA division of the ICA and 65 (42%) were performed through branches of the ECA. Eleven eyes (37%) solely received IAC through the OA branch of the ICA, 16 eyes (53%) were converted to ECA treatment, and 3 eyes solely received IAC through branches of the ECA. Statistical analysis did not show any significant difference in globe salvage rate or reduction in tumor thickness and size. CONCLUSION: The use of alternative approaches for IAC when the OA branch of the ICA catheterization is not feasible allows for safe continued delivery of highly effective IAC, leading to similar outcomes in terms of globe salvage and reduction in tumor size.

Parental Perspectives on Life-Altering News in Emergency Settings: A Qualitative Evaluation.

INTRODUCTION: Delivering life-altering news is a difficult task that is frequently the responsibility of emergency physicians. However, the existing frameworks for guiding such interactions fail to address the physician-parent-patient dynamic of pediatric emergency encounters. To date, no study has investigated the parental perspective, limiting the ability to provide evidence-based recommendations. This study describes how parents experience receiving life-altering news about their child in emergency settings. METHODS: This qualitative study used virtual asynchronous focus groups. Through purposeful sampling of virtual support and advocacy groups, we recruited parents of children diagnosed with either malignancy or type 1 diabetes in an emergency department. Participants were then assigned to private Facebook groups established solely for this study. Questions were posted to these groups over the course of 5 days. At their convenience, participants could post responses, replies, or new questions. Three members of the research team performed thematic analysis and used team consensus to ensure validity. RESULTS: Four focus groups were conducted with a total of 28 participants. Parents described their experiences receiving life-altering news as a process with 4 primary emergent themes: lens through which they view the experience, the ED encounter, the immediate response, and the long-term impact. Each parent entered into the ED encounter with a unique collection of personal experiences, circumstances, and knowledge. These factors shaped the lens through which they perceived the events of the ED encounter. Ultimately, this determined participants' response to the life-altering news, leading to many long-term impacts on the various dynamics within each parent's life. CONCLUSIONS: The words used to disclose life-altering news are only a small piece of the experience for parents. Personal lenses changed how encounters were perceived, resulting in variable and long-lasting implications. We recommend the following framework for providers: understand the lens, control encounters, manage responses, and respect long-term impacts.

Palliative care is not associated with decreased intensity of care: Results of a chart review from a large children's hospital.

BACKGROUND: Palliative care is an important component of pediatric oncology care, especially for children who will not be cured of their disease. However, barriers remain to integration of this service. One barrier is the perception that it indicates "giving up." This study examined if palliative care involvement was associated with a decreased intensity of care at the end of life for children with malignancy at a large academic center with a well-established palliative care program. PROCEDURE: This is a retrospective chart review that measured intensity of care as the number of emergency department visits, hospital days, and intensive care unit days in the last one and three months of life. The data were compared for patients with and without palliative care involvement and with and without hospice involvement. RESULTS: Palliative involvement was not associated with a decrease in the intensity of care in the last three months of life. Hospice care was associated with a decreased intensity of care. These results held true in analyses adjusted for age at death, gender, and type of malignancy. CONCLUSIONS: These data can reassure patients, families, and providers that palliative involvement does not necessitate decreased intensity of care. Patients and families often choose hospice care to decrease the amount of time spent at the hospital and it was associated with meeting that goal.

Adolescent and parent perspectives on genomic sequencing to inform cancer care.

Next-generation sequencing offers opportunities for targeted cancer therapies and may identify pathogenic germline variants. Adolescents' perception of testing is not well understood. We surveyed 16 adolescents and 59 parents regarding motivations, attitudes, and knowledge related to paired tumor/germline sequencing. Participants generally had a good objective understanding of germline genetics and cancer risk, with parents scoring higher than adolescents. Nearly all participants were motivated by a desire to help other patients and to treat their child/themselves. Most adolescents reported involvement in the decision to enroll in the study. Study findings suggest important similarities and differences between parent and adolescent views.

18F-2-fluoro-2-deoxyglucose uptake in white adipose tissue on pediatric oncologic positron emission tomography (PET)/computed tomography (CT).

BACKGROUND: Altered biodistribution of [F-18]2-fluoro-2-deoxyglucose (FDG) is sometimes encountered in pediatric patients undergoing chemotherapy for lymphoma on post-induction positron emission tomography (PET) imaging. A characteristic pattern of increased FDG uptake in white adipose tissue can be seen, particularly in the buccal regions, body wall and gluteal regions, with a shift of radiotracer away from the blood pool and liver. This altered biodistribution has been attributed to effects of corticosteroids in pediatric and adult patients and is important to recognize because of its potential for limiting the diagnostic quality of the PET scan and interfering with therapeutic response assessment. OBJECTIVE: In contrast to the well-known metabolically active brown fat seen on up to one-third of pediatric PET scans, white fat is usually non-metabolically active. We sought to determine the incidence of altered distribution of FDG in subcutaneous white adipose tissue in pediatric patients undergoing PET imaging and to assess the association with corticosteroid use. MATERIALS AND METHODS: We reviewed the medical records and imaging for four children in whom altered biodistribution in white adipose tissue was present on post-induction FDG PET/CT, identified during routine clinical practice. All four were receiving corticosteroids as part of their chemotherapy. We then retrospectively reviewed oncology FDG PET/CT scans over a 2-year period (1,361 scans in 689 patients) to determine the incidence of uptake in white fat by qualitative visual assessment. In the children identified with altered biodistribution, we measured maximum standard uptake value (SUVmax) and mean standard uptake value (SUVmean) in areas of subcutaneous white fat, the buccal regions, body wall or gluteal soft-tissue regions, liver and blood pool. We reviewed all medical records, including medication lists. We summarize the relevant clinical and imaging findings of 13 pediatric patients, including the 4 index patients. RESULTS: We determined the incidence of FDG uptake in white fat to be rare, found in 9 of 1,361 (0.6%) PET scans performed for pediatric cancer evaluation. FDG uptake was increased in subcutaneous adipose tissue, particularly in the buccal regions, body wall and gluteal regions, with a shift of radiotracer away from the blood pool and liver. The degree of increased uptake in peripheral white fat varied from marked to mild, and the biodistribution was distinct from that of brown adipose tissue. Children with this altered biodistribution were uniformly receiving corticosteroids as part of induction treatment for their cancer, and these findings were only identified on post-induction PET/CT. Follow-up PET/CT documented resolution of this effect after treatment with corticosteroids ceased. CONCLUSION: Our findings support the current understanding that characteristic uptake of FDG in white adipose tissue is mediated by corticosteroid effect. Although this altered biodistribution is rare (<1% of PET scans) it could impair the diagnostic quality of the scan, affecting image interpretation, and should be recognized when present.

Do Deauville Scores Improve the Clinical Utility of End-of-Therapy FDG PET Scans for Pediatric Hodgkin Lymphoma?

OBJECTIVE: The purpose of this study was to evaluate the clinical utility of Deauville scores in interpretation of end-of-chemotherapy FDG PET scans. CONCLUSION: Deauville scores improve the clinical utility of end-of-chemotherapy PET, as evidenced by an increase in positive predictive value to 72.7% from 44.4% on the basis of report alone. The negative predictive value remains greater than 95%.

Paratesticular desmoplastic small round cell tumors: A case report and review of the literature.

Desmoplastic small round cell tumor (DSCRT) is a rare malignancy most often seen in the abdomen or pelvis of young men. Unfortunately, this disease is usually metastatic at diagnosis and has dismal outcomes. We describe a case of isolated paratesticular DSCRT in a 14-year-old male successfully treated with surgical resection, chemotherapy, and adjuvant radiation, and we present a review of the relevant literature. It appears that isolated, paratesticular DSCRTs have a markedly better outcome than the classic abdominal or pelvic location. We hypothesize that this is due to earlier detection and the relative ease of surgical resection.

Scleral ectasia stabilization following intra-arterial chemotherapy in an eye with recurrent retinoblastoma.

Purpose: To report a case of recurrent retinoblastoma following transpupillary thermotherapy (TTT) with development of scleral ectasia, as well as their successful treatment with intra-arterial chemotherapy. Observations: A 15-month-old girl with bilateral retinoblastoma presented with recurrent retinoblastoma and associated scleral ectasia with concern for extraocular extension after receiving multiple round of systemic chemotherapy and TTT. Given her negative systemic evaluation, decision was made to pursue intra-arterial chemotherapy. After completion of six rounds of 3-agent intra-arterial chemotherapy, the recurrent retinoblastoma had completely regressed and the scleral ectasia had improved and fibrosed. Conclusions and importance: The sclera is classically viewed as hyperthermy-resistant to TTT. Here, we describe scleral ectasia due to aggressive TTT with recurrence of the retinoblastoma. Our treatment with intra-arterial chemotherapy not only caused complete regression of the recurrent retinoblastoma, but it also contributed to the stabilization and improvement of the weakened scleral.

Perspectives from a Predominantly African American Community about Biobank Research and a Biobank Consent Form.

Minority populations have been underrepresented in clinical trials, as well as in research biobanks that are created to conduct research with participants' biospecimens and related medical and research data. Biobank research raises issues about informed consent and privacy and the confidentiality of participants' personal data. Our study involved three focus groups of 10 adults each that were conducted in a medically underserved, predominantly African American community to elucidate questions and concerns regarding an institutional biobank. Transcripts from the discussion were qualitatively analyzed. Three main themes that arose from the focus groups included the importance of trust, the importance of the community in research, and suggestions to improve trust. The concerns identified in this study provide a starting point for future research to help research institutions become more trustworthy to the communities they serve.

The relationship between anosmia, constipation, and orthostasis and Parkinson's disease duration: results of a pilot study.

Autonomic symptomatology is prevalent in Parkinson's disease (PD) and impacts quality of life, yet little data exist on the presentation of autonomic dysregulation. This study measures orthostasis, constipation, and anosmia in 58 PD patients and 51 age-matched controls enrolled in the University of Florida's Movement Disorders Center. Patients had their blood pressure measured while seated and in standing position, performed the University of Pennsylvania Smell Identification Test (UPSIT), and completed a constipation survey. Our PD patients had a significantly different average decrease in systolic BP from a seated to standing position compared with their age-matched controls (5.90 mmHg (SD 17.03) vs. 2.6 mmHg (SD 11.28); p = .05). The difference in heart rate from seated to standing positions was not significant. Reflexive tachycardia was inversely proportional to levodopa equivalent daily dose (LEDD) score (p = .002). Anosmia occurred in 96.4% of the PD group and 49% of the controls (p < .001). Constipation was also more prevalent in the PD population than in the controls (67.3% vs. 21.6%; p < .001). Both anosmia and constipation were correlated with disease duration (p = .038 and .04 respectively). Our study suggests that increasing levels of dopaminergic therapy inhibits reflexive tachycardia. Furthermore, our study suggests that anosmia and constipation progress with the primary disease process.

Is rhinorrhea an under-recognized intrinsic symptom of Parkinson disease? A prospective pilot study.

PURPOSE: The purpose of this study is to compare the prevalence of idiopathic rhinorrhea in PD patients versus controls, to determine the correlation between rhinorrhea and anosmia, and the factors associated with rhinorrhea. SCOPE: A cohort of 61 PD patients and 51 age-matched controls completed a survey about rhinorrhea and underwent the University of Pennsylvania Smell Identification Test (UPSIT). We compared the prevalence of idiopathic rhinorrhea in the PD patients versus controls, the correlation between rhinorrhea and anosmia in PD patients, and the factors associated with rhinorrhea in the PD patients. The results of the study are that 6% of controls versus 24% of PD patients had rhinorrhea (p = .03); moreover, only 2% of controls versus 15% of PD patients had severe rhinorrhea. CONCLUSION: Rhinorrhea is more prevalent in PD patients compared to controls and it does not significantly impact performance on a smell test.

Supporting Pediatric Patients and Their Families at the End of Life: Perspectives From Bereaved Parents.

BACKGROUND: Cancer remains the leading cause of death by disease for children in the United States. It is imperative to optimize measures to support patients and families facing the end of a child's life. This study asked bereaved parents to reflect on their child's end-of-life care to identify which components of decision-making, supportive services, and communication were helpful, not helpful, or lacking. METHODS: An anonymous survey about end-of-life experiences was sent to families of children treated at a single institution who died of a malignancy between 2010 and 2017. RESULTS: Twenty-eight surveys were returned for a 30.8% response rate. Most of the bereaved parents (61%) reported a desire for shared decision-making; this was described by 52% of families at the end of their child's life. There was a statistically significant association between how well death went and whether the parental perception of actual decision-making aligned with desired decision-making (P = .002). Families did not utilize many of the supportive services that are available including psychology and psychiatry (only 22% used). Respondents felt that additional services would have been helpful. CONCLUSIONS: Health care providers should strive to participate in decision-making models that align with the preferences of the patient and family and provide excellent communication. Additional resources to support families following the death of a child should be identified for families or developed and funded if a gap in available services is identified.

Experiences at the End of Life From the Perspective of Bereaved Parents: Results of a Qualitative Focus Group Study.

BACKGROUND: Palliative care principles are known to support the experiences of children and their families throughout the illness trajectory. However, there is little knowledge of the parental perceptions of care delivered and gaps experienced by families receiving end-of-life care. We report the most helpful aspects of care provided during the end of life and identify opportunities to improve care delivery during this critical time. METHODS: This study consists of 2 one-hour focus group sessions with 6 participants each facilitated by a clinical psychologist to explore the experiences of bereaved parents of pediatric oncology patients at the end of their child's life. The data were transcribed and coded using constant comparative analysis and evaluated for inter-rater reliability using intraclass correlation coefficient. RESULTS: Four common themes were identified through qualitative analysis: (1) valued communication qualities, (2) valued provider qualities, (3) unmet needs, and (4) parental experiences. The most prevalent of these themes was unmet needs (mentioned 51 times). Subthemes were identified and evaluated. Parents described struggling with communication from providers, loss of control in the hospital environment, and challenges associated with transition of care to hospice services. CONCLUSION: Interventions that support the complex needs of a family during end-of-life care are needed, especially with regard to coordination of care.

The current state of medical school education in bioethics, health law, and health economics.

Current challenges in medical practice, research, and administration demand physicians who are familiar with bioethics, health law, and health economics. Curriculum directors at American Association of Medical Colleges-affiliated medical schools were sent confidential surveys requesting the number of required hours of the above subjects and the years in which they were taught, as well as instructor names. The number of relevant publications since 1990 for each named instructor was assessed by a PubMed search. In sum, teaching in all three subjects combined comprises less than two percent of the total hours in the American medical curriculum, and most instructors have not recently published articles in the fields they teach. This suggests that medical schools should reevaluate their curricula and instructors in bioethics, health law, and health economics.

The impact of and the factors associated with drooling in Parkinson's disease.

We administered a 7-question survey on drooling to PD patients and age-matched controls. Each subject was assigned a drooling severity score and categorized as a "drooler" or a "non-drooler". The age, disease duration, motor scores, quality of life (PDQ-39), and levodopa equivalent daily dosage (LEDD) were compared between PD droolers vs. PD non-droolers. 58 PD patients and 51 age-matched controls participated. In PD patients, the mean: disease duration was 10.96 years (SD 8.66) and UPDRS on motor score was 30.76 (SD 10.57). The drooling severity score was significantly different between patients vs. controls (3.41 vs. .58; p < .01). 14% of controls vs. 59% of patients were droolers (p < .01). PD droolers scored worse on the ADL subscale of the PDQ-39 (p = .031). Furthermore, PD droolers had significant difficulty speaking (7.27% vs. 0%; p < .01); eating (3.64% vs. 0%; p = .01); and socially interacting (12.73% vs. 0%; p < .01) compared to PD non-droolers. Interestingly, the hallucination component of the UPDRS Part I was significantly correlated with being a drooler (p = .016). None of the other variables have significant effect on drooling severity scores. There is a high prevalence of drooling among PD patients compared to controls. PD droolers had worse quality of life and had more difficulty speaking, eating and socially interacting compared to PD non-droolers. Experiencing hallucinations was the only factor that correlated with being a drooler and it may be confounded by medications.