A Retrospective Genomic Landscape of 661 Young Adult Glioblastomas Diagnosed Using 2016 WHO Guidelines for Central Nervous System Tumors.

The authors present a cohort of 661 young adult glioblastomas diagnosed using 2016 WHO World Health Organization Classification of Tumors of the Central Nervous System, utilizing comprehensive genomic profiling (CGP) to explore their genomic landscape and assess their relationship to currently defined disease entities. This analysis explored variants with evidence of pathogenic function, common copy number variants (CNVs), and several novel fusion events not described in literature. Tumor mutational burden (TMB) mutational signatures, anatomic location, and tumor recurrence are further explored. Using data collected from CGP, unsupervised machine-learning techniques were leveraged to identify 10 genomic classes in previously assigned young adult glioblastomas. The authors relate these molecular classes to current World Health Organization guidelines and reference current literature to give therapeutic and prognostic descriptions where possible.

Demographic disparities in children with retropharyngeal and parapharyngeal abscesses.

PURPOSE: To explore the impact that demographic and socioeconomic factors such as age, gender, race, and insurance status have on the diagnosis of retropharyngeal (RPA) and parapharyngeal abscesses (PPA) in the pediatric population. METHODS: The 2016 HCUP KID was searched for all RPA/PPA discharges using the joint ICD-10 code J39.0. Descriptive statistics, univariate, and multivariate analyses were performed to assess the relationship between demographic factors and their impact on RPA/PPA diagnosis. Results were reported with their corresponding odds ratio with a 95 % confidence interval and p-value. RESULTS: 56.4 per 100,000 weighted discharges were discharged with a diagnosis of a RPA/PPA, the average age was 5.7 years old, with a male predominance. Pediatric discharges diagnosed with a RPA/PPA were less likely to identify as Hispanic or Asian/Island Pacific. They were also less likely to be insured by Medicaid and reside in zip codes with a lower median income. CONCLUSION: The analysis of this national pediatric database demonstrated significant demographic differences in children diagnosed with RPA/PPAs. Following the multivariate analysis, children from a higher socioeconomic background and those with private insurance were more likely to be diagnosed with a RPA/PPAs. However, disparities in children's overall hospital course and complications is a potential area for future research.

Relationship between otolaryngology interest groups and residency match results.

BACKGROUND: Many students have limited exposure to otolaryngology-head and neck surgery (OTOHNS) throughout medical school, limiting recruitment of medical students early in their medical careers. OBJECTIVE: To assess the association between otolaryngology interest groups (OIGs) at medical schools and percentage of students matching into OTOHNS residency programs. To characterize specific aspects of OIGs that may impact the percentage of students matching into OTOHNS residency programs from a given medical school. METHODS: Data was obtained from web searches of 141 accredited U.S. allopathic medical schools to see if they possessed OIGs. Information on the various activities and opportunities that OIGs participated in was collected through medical school websites. 2020 NRMP® match results data were obtained. RESULTS: Web searches found that 73 % (103 out of 141) of U.S. allopathic medical schools have OIGs. Medical schools with OIGs were associated with a 35 % increase in the median percentage of OTOHNS matches (P = 0.022). Of the 103 medical schools with OIGs, 53 % (55) of the schools had information on their websites describing activities and opportunities that their OIGs participate in. OIGs with research and/or mentorship opportunities were associated with increases in OTOHNS matches by 32 % (P = 0.043) and 83 % (P = 0.012), respectively. CONCLUSION: The presence of an OIG at a medical school is associated with an increased percentage of students matching into OTOHNS from that medical school. OIGs that provide research or mentorship opportunities are associated with an increased percentage of students matching into OTOHNS from those medical schools.

Assessing Loss to Follow-up After Newborn Hearing Screening in the Neonatal Intensive Care Unit: Sociodemographic Factors That Affect Completion of Initial Audiological Evaluation.

OBJECTIVES: Neonatal intensive care unit (NICU) patients are at high risk for congenital hearing loss. Previous studies have found sociodemographic factors associated with loss to follow-up for newborn hearing screening, but none have specifically studied the NICU population. Our objective is to determine if demographics and socioeconomic status is associated with loss to follow-up in a newborn population with extended NICU stay. DESIGN: A retrospective cohort study was conducted on 443 NICU infants with extended NICU stay utilizing data extracted from infant and maternal medical records at an urban safety-net hospital. RESULTS: Younger maternal age (adjusted odds ratio [OR] 0.95, confidence interval [CI] 0.91 to 0.99), higher gravidity (adjusted OR 1.39, CI 1.12 to 1.72), and former smoking status (adjusted OR 2.57, CI 1.07-6.18) were identified as independent predictors of loss to follow-up for NHS after conducting a multivariable logistic regression. Demographic and socioeconomic variables, such as sex, parity, birth weight, mode of birth, highest level of maternal education, maternal race/ethnicity, zip code metrics, and maternal language were not found to be associated with loss to follow-up. CONCLUSIONS: Maternal age, gravidity, and smoking status are risk factors for loss to follow-up for NHS in newborns with extended NICU stay, a group at high risk for hearing loss. Our findings demonstrate that socioeconomic and demographic factors for loss to follow-up in the extended-stay NICU population are distinct from the well-baby population. Further investigation of these patients will allow prioritization of limited resources to subgroups within the extended-stay NICU population at risk for loss to follow-up for newborn hearing screening.

Internet and social media research by parents of pediatric otolaryngologic patients.

PURPOSE: Public access to medical information has increased dramatically with the growth and accessibility of the Internet. The goal of this study is to characterize how parents use the Internet to understand and make decisions about their child's otolaryngologic surgery. MATERIALS AND METHODS: A survey was distributed to parents of pediatric patients undergoing otolaryngologic procedures to assess if and how parents gather information about their child's surgery. RESULTS: 105 parents completed the survey. 59.4% of parents gathered online information about their child's surgery. 86% of these parents used Google, 36% used YouTube, 16% used Wikipedia, and 9% used a hospital website. Most searched for general information about the surgery, followed by risks, pain/recovery, and specifics about the surgery. 69% reported that the information found influenced the healthcare decisions they made for their child. 86% felt the information was trustworthy. 21% discussed the information with their child's surgeon. 17% gathered information about their child's surgeon, of which 73% were interested in the surgeon's experience. 69% reported this influenced their choice of surgeon. CONCLUSIONS: Most parents of pediatric otolaryngologic patients use the Internet to gather information about their child's surgery, view that information as accurate, and use that information to make healthcare decisions. However, less than one quarter of parents discuss the information with their child's surgeon. It is critical to understand how parents use the Internet for healthcare information so otolaryngologists can better direct their patients' parents to appropriate and accurate resources.

The utility of ThyroSeq® in the management of indeterminate thyroid nodules by fine-needle aspiration.

OBJECTIVE: We aim to evaluate the impact of ThyroSeq® in the management of indeterminate thyroid nodules (ITN), including Bethesda III and IV nodules. METHODS: ITNs that underwent ThyroSeq testing between 2016 and 2019 were retrospectively reviewed. A control cohort included ITNs without molecular testing. Cytological, molecular, and histological data were collected. RESULTS: We identified 202 ITNs that underwent molecular testing (128 in Bethesda III and 74 in Bethesda IV). Mutations were found in 58 nodules with mutation rates of 21.9% in Bethesda III and 40.5% in Bethesda IV. In this cohort, 49 cases had surgical resection with a resection rate of 24.3% (49/202, 15.6% in Bethesda III and 39.2% in Bethesda IV). Among the resected cases, 42 cases had positive molecular results. Thyroid cancer was diagnosed in 21 nodules with a malignancy detection rate of 10.4%. In the other cohort, we identified 236 ITNs (158 in Bethesda III and 78 in Bethesda IV). Surgical resection was performed in 127 cases, with a resection rate of 53.8% (127/236, 46.2% in Bethesda III and 69.2% in Bethesda IV). Thyroid cancer was diagnosed in 21 nodules, with a malignancy detection rate of 8.9%. The risk of malignancy (ROM) recalculated based on positive ThyroSeq results was significantly higher (21.4%-35.5% in Bethesda III and 50%-60% in Bethesda IV) than that without molecular testing (4.4%-9.6% in Bethesda III and 17.9%-25.9% in Bethesda IV). CONCLUSION: We concluded that ThyroSeq significantly decreased the surgical resection rate (from 53.8% to 24.3%) without significantly affecting the malignancy detection rate in ITNs. Furthermore, positive molecular testing significantly increased ROM in ITNs. We believe that the recalculated ROM should be incorporated into the management of ITNs.

Biomarkers in Breast Cancer: An Integrated Analysis of Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry Biomarkers in 312 Patients with Breast Cancer.

BACKGROUND: We examined the current biomarker landscape in breast cancer when programmed death-ligand 1 (PD-L1) testing is integrated with comprehensive genomic profiling (CGP). MATERIAL AND METHODS: We analyzed data from samples of 312 consecutive patients with breast carcinoma tested with both CGP and PD-L1 (SP142) immunohistochemistry (IHC) during routine clinical care. These samples were stratified into hormone receptor positive (HR+)/human epidermal growth factor receptor negative (HER2-; n = 159), HER2-positive (n = 32), and triple-negative breast cancer (TNBC) cohorts (n = 121). RESULTS: We found that in the TNBC cohort, 43% (52/121) were immunocyte PD-L1-positive, and in the HR+/HER2- cohort, 30% (48/159) had PIK3CA companion diagnostics mutations, and hence were potentially eligible for atezolizumab plus nab-paclitaxel or alpelisib plus fulvestrant, respectively. Of the remaining 212 patients, 10.4% (22/212) had a BRCA1/2 mutation, which, if confirmed by germline testing, would allow olaparib plus talazoparib therapy. Of the remaining 190 patients, 169 (88.9%) were positive for another therapy-associated marker or a marker that would potentially qualify the patient for a clinical trial. In addition, we examined the relationship between immunocyte PD-L1 positivity and different tumor mutation burden (TMB) cutoffs and found that when a TMB cutoff of ≥9 mutations per Mb was applied (cutoff determined based on prior publication), 11.6% (14/121) patients were TMB ≥9 mutations/Mb and of these, TMB ≥9 mutations per Mb, 71.4% (10/14) were also positive for PD-L1 IHC. CONCLUSION: Our integrated PD-L1 and CGP methodology identified 32% of the tested patients as potentially eligible for at least one of the two new Food and Drug Administration approved therapies, atezolizumab or alpelisib, and an additional 61.2% (191/312) had other biomarker-guided potential therapeutic options. IMPLICATIONS FOR PRACTICE: This integrated programmed death-ligand 1 immunohistochemistry and comprehensive genomic profiling methodology identified 32% of the tested patients as eligible for at least one of the two new Food and Drug Administration-approved therapies, atezolizumab or alpelisib, and an additional 61.2% (191/312) had other biomarker-guided potential therapeutic options. These findings suggest new research opportunities to evaluate the predictive utility of other commonly seen PIK3CA mutations in hormone receptor-positive breast cancers and to standardize tumor mutation burden cutoffs to evaluate its potentially predictive role in triple-negative breast cancer.

Robot-assisted epiglottopexy as a method for managing adult obstructive sleep apnea.

INTRODUCTION: Patients who do not tolerate continuous positive airway pressure (CPAP) for treatment of obstructive sleep apnea (OSA) often seek surgical management. A variety of procedures exist to address the nasal passages, oropharynx, hypopharynx, and larynx. Diagnostic studies including drug-induced sleep endoscopy (DISE) are helpful in identifying areas of obstruction. One potential site of obstruction is at the level of the epiglottis. We describe the use of robotic technology to assist with epiglottopexy to manage epiglottic retroflexion as a cause of two patients' OSA. This is the first reported robot-assisted epiglottopexy in the adult otolaryngology literature. METHODS: This is a case series of two patients with OSA who demonstrated epiglottis collapse into the airway during DISE. They were evaluated by polysomnographic testing (PSG), Epworth Sleepiness Scale (ESS), and physical exam. Given their epiglottic collapse seen on DISE, they underwent robot-assisted epiglottopexy. RESULTS: Both patients had moderate to severe OSA preoperatively. They successfully underwent robot-assisted epiglottopexy as a surgical intervention. They tolerated the procedure, and there have been no complications. Each reported improved symptoms, with patient one showing a decrease in total AHI and a substantial decrease in oxygen desaturations at night. The second patient reported a significant decrease in AHI and ESS. CONCLUSION: There are many options for surgical intervention in patients with OSA. Epiglottopexy is one method for addressing collapse of the epiglottis and can be achieved successfully through robot-assisted epiglottopexy in adult patients with OSA. LEVEL OF EVIDENCE: IV.

Improving Cancer Diagnosis and Care: Patient Access to High-Quality Oncologic Pathology.

Drawing on discussions at a workshop hosted by the National Cancer Policy Forum, current challenges in pathology are reviewed and practical steps to facilitate high­quality cancer diagnosis and care through improved patient access to expertise in oncologic pathology are highlighted.

Genomic Landscape of Adult and Pediatric BCR-ABL1-Like B-Lymphoblastic Leukemia Using Parallel DNA and RNA Sequencing.

BCR-ABL1-like B-Acute Lymphoblastic Leukemia (B-ALL) is a subset of B-ALL with a poor prognosis that is found in all age groups. Definitive identification of these patients is difficult in routine clinical practice as gene expression profiling, the gold standard test, is not widely available. Comprehensive genomic profiling performed on 450 patients with extensive fusion profiling revealed a wide range of genomic alterations which were consistent with a classification of BCR-ABL1-like B-ALL in 29% of cases. This manuscript highlights a clinically available alternative method for identifying a large subset of patients with BCR-ABL1-like B-ALL.