Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/DICER1 Registry.

BACKGROUND: Pleuropulmonary blastoma (PPB), the hallmark tumour associated with DICER1-related tumour predisposition, is characterised by an age-related progression from a cystic lesion (type I) to a high-grade sarcoma with mixed cystic and solid features (type II) or purely solid lesion (type III). Not all cystic PPBs progress; type Ir (regressed), hypothesised to represent regressed or non-progressed type I PPB, is an air-filled, cystic lesion lacking a primitive sarcomatous component. This study aims to evaluate the prevalence of non-progressed lung cysts detected by CT scan in adolescents and adults with germline DICER1 pathogenic/likely pathogenic (P/LP) variants. METHODS: Individuals were enrolled in the National Cancer Institute Natural History of DICER1 Syndrome study, the International PPB/DICER1 Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Individuals with a germline DICER1 P/LP variant with first chest CT at 12 years of age or older were selected for this analysis. RESULTS: In the combined databases, 110 individuals with a germline DICER1 P/LP variant who underwent first chest CT at or after the age of 12 were identified. Cystic lung lesions were identified in 38% (42/110) with a total of 72 cystic lesions detected. No demographic differences were noted between those with lung cysts and those without lung cysts. Five cysts were resected with four centrally reviewed as type Ir PPB. CONCLUSION: Lung cysts are common in adolescents and adults with germline DICER1 variation. Further study is needed to understand the mechanism of non-progression or regression of lung cysts in childhood to guide judicious intervention.

Assessing the role of positron emission tomography and bone scintigraphy in imaging of pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry.

BACKGROUND: Pleuropulmonary blastoma (PPB) is the most common primary lung neoplasm of infancy and early childhood. Given the rarity of PPB, the role of positron emission tomography (PET) and bone scintigraphy (bone scans) in diagnostic evaluation and surveillance has not been documented to date. Available PET and bone scan data are presented in this study. PROCEDURES: Patients with PPB enrolled in the International PPB/DICER1 Registry and available PET imaging and/or bone scan reports were retrospectively abstracted. RESULTS: On retrospective analysis, 133 patients with type II and III (advanced) PPB were identified with available report(s) (PET scan only = 34, bone scan only = 83, and both bone scan and PET = 16). All advanced primary PPB (n = 11) and recurrent (n = 8) tumors prior to treatment presented with 18 F-fluorodeoxyglucose (FDG)-avid lesions, with median maximum standardized uptake values of 7.4 and 6.7, respectively. False positive FDG uptake in the thorax was noted during surveillance (specificity: 59%). Bone metastases were FDG-avid prior to treatment. Central nervous system metastases were not discernable on PET imaging. Sensitivity and specificity of bone scans for metastatic bone disease were 89% and 92%, respectively. Bone scans had a negative predictive value of 99%, although positive predictive value was 53%. Four patients with distant bone metastases had concordant true positive bone scan and PET. CONCLUSION: Primary, recurrent, and/or extracranial metastatic PPB presents with an FDG-avid lesion on PET imaging. Additional prospective studies are needed to fully assess the utility of nuclear medicine imaging in surveillance for patients with advanced PPB.

Outcomes for Children With Type II and Type III Pleuropulmonary Blastoma Following Chemotherapy: A Report From the International PPB/DICER1 Registry.

PURPOSE: Pleuropulmonary blastoma (PPB) is the most common primary lung neoplasm of infancy and early childhood. Type II and type III PPB have historically been associated with a poor prognosis. METHODS: Patients with known or suspected PPB were enrolled in the International PPB/DICER1 Registry. Medical records were abstracted with follow-up ascertained annually. All PPB diagnoses were confirmed by central pathology review. Beginning in 2007, the IVADo regimen (ifosfamide, vincristine, actinomycin-D, and doxorubicin) was recommended as a potential treatment regimen for children with type II and type III PPB. This regimen was compared with a historical control cohort. RESULTS: From 1987 to 2021, 314 children with centrally confirmed type II and type III PPB who received upfront chemotherapy were enrolled; 132 children (75 with type II and 57 with type III) received IVADo chemotherapy. Adjusted analyses suggest improved overall survival for children treated with IVADo in comparison with historical controls with an estimated hazard ratio of 0.65 (95% CI, 0.39 to 1.08). Compared with localized disease, distant metastasis at diagnosis was associated with worse PPB event-free survival and overall survival with hazard ratio of 4.23 (95% CI, 2.42 to 7.38) and 4.69 (95% CI, 2.50 to 8.80), respectively. CONCLUSION: The use of IVADo in children with type II and type III PPB resulted in similar-to-improved outcomes compared with historical controls. Inferior outcomes with metastatic disease suggest the need for novel therapies. This large cohort of uniformly treated children with advanced PPB serves as a benchmark for future multicenter therapeutic studies for this rare pediatric tumor.

Cost Comparison of Ultrasound Versus MRI to Diagnose Adolescent Female Patients Presenting with Acute Abdominal/Pelvic Pain Using Time-Driven Activity-Based Costing.

RATIONALE AND OBJECTIVES: To compare the cost of ultrasound (US) versus magnetic resonance imaging (MRI) using time-driven activity-based costing in adolescent female patients with suspected appendicitis. MATERIALS AND METHODS: Process maps were created using data from electronic medical record review and patient shadowing for adolescent female patients undergoing US or noncontrast MRI exams of the abdomen and pelvis for suspected appendicitis. Capacity cost rates for all personnel, equipment, facilities, and supplies in each exam pathway were established from institutional accounting data. The cost of each process step was determined by multiplying step-specific capacity cost rates by the mean time required to complete the step. Total pathway costs for US and MRI were computed by summing the costs of all steps through each pathway, and a direct cost comparison was made between the two modalities. RESULTS: Process maps for US and MRI pathways were generated from 231 and 52 patient encounters, respectively. Patients undergoing US exams followed one of six pathways depending on exam order (abdomen versus pelvis performed first) and whether additional time was needed for bladder filling. Mean total US pathway time was 91 minutes longer than for MRI (US = 166 minutes; MRI = 75 minutes). Total MRI pathway cost was $209.97 compared to a mean US cost of $258.33 (range = $163.21-$293.24). CONCLUSION: MRI can be a faster and less costly alternative to US for evaluating suspected appendicitis in adolescent female patients. While precise costs will vary by institution, MRI may be a viable and at times preferable alternative to US in this patient population.

Characterization of all-terrain vehicle-related chest injury patterns in children.

PURPOSE: To evaluate chest injury patterns in pediatric patients involved in all-terrain vehicle (ATV) accidents. METHODS: Retrospective review of patients 0-18 years old admitted to a level I trauma institute following an ATV-related incident from 2004 to 2013 was performed. Chest injury type, accident mechanism, driver/passenger status, and demographic and clinical data were compared between patients with and without chest injury. RESULTS: Chest injury was present in 102 (22%) of total 455 patients. The most common chest injuries were pulmonary contusion (61%), pneumothorax (45%), and rib fracture (34%). There were no cardiac, esophageal, or tracheobronchial injuries. Pulmonary lacerations, hemothoraces, and scapular fractures were predominantly not detected on radiography and recognized on CT only (86-92%). Patients with chest injury had longer median hospital stays (3 days vs 2 days, p = 0.0054). There was no significant difference in admission to intensive care after controlling for injury severity scores in patients with chest injury compared to those without (17 vs 9). Eight patients with chest injury died (8%) compared to 2 patients without chest injury (0.6%) (p = 0.0002). CONCLUSIONS: Chest injuries are common in children following ATV accidents and may be a marker of more severe trauma. Increased public awareness of these potentially devastating injuries and continuing safety efforts are needed.