Showing 3 Abstracts.
Undifferentiated embryonal sarcomas of the liver (UESL) and mesenchymal hamartomas are rare pediatric tumors. Mesenchymal hamartomas are benign and often seen in children under two years of age, while UESL are malignant tumors often seen in children six to ten years of age; however, age ranges are not universally true. There is an unclear relationship between these two tumors. Prior studies have hypothesized that mesenchymal hamartomas may evolve into UESL given reports of UESL within portions of mesenchymal hamartomas; however, few cases of this exist in the literature. There is a common relationship of 19q13.4 chromosomal alterations between these two lesions, the MHLB1 gene locus. These tumors are difficult to differentiate on imaging alone, and biopsy is often required for diagnosis. Shared imaging features between these two tumors include large size, cystic with solid components, patchy enhancement, and occasional fluid-fluid levels. UESL occasionally present with poor margins and are fast growing (mesenchymal hamartomas are typically well-defined). These features are not universally consistent, which can make diagnosis difficult. In this educational exhibit, we present three cases highlighting the clinical presentation, imaging features, treatments, and outcomes of patients with UESL and mesenchymal hamartomas. We showcase multi-modal imaging appearances of these lesions (ultrasound, CT, MRI, angiography) and their post-treatment changes. In particular, one case describes a 5-year-old female presenting with a hemorrhaging UESL which was subsequently resected. Follow-up imaging showed a new hepatic lesion concerning for recurrence. Histopathology of this new lesion showed findings consistent with mesenchymal hamartoma without evidence of UESL recurrence or other malignancy. Through these cases, we highlight similarities and differences between mesenchymal hamartomas and UESL, hoping to further explore a potential association between these two tumors. Read More
Meeting name: SPR 2025 Annual Meeting , 2025
Authors: Carlock Hunter, Kelly Anna, Chess Mitchell
A 3-year-old male presented to the emergency department with a 3-day history of wheezing, dyspnea, and mild hypoxia. Patient was afebrile with diminished left-sided breath sounds. Chest radiograph demonstrated expansile opacification of left upper lung, raising concern for pneumonia and prompting ceftriaxone administration. Patient did not improve on antibiotics, and laboratory findings remained inconclusive for infection. A contrast-enhanced chest CT revealed a large left upper lung mass with associated airway compression and atelectasis. Subsequent biopsy and histology initially proposed unspecified sarcoma and malignant spindle cell neoplasm; later refined to pleuropulmonary blastoma (PPB) type III. Fluorodeoxyglucose (FDG) PET-MRI and bone marrow biopsy confirmed localized disease. Molecular genetic testing revealed DICER1 mutation. Patient completed 12 cycles of IVADo (ifosamide, vincristine, actinomycin-D, and doxorubicin) chemotherapy and underwent left lung pneumonectomy, now 2 years in remission. PPB is a rare embryonal lung neoplasm in children (ages 0-6) classified into cystic (type I/Ir), mixed cystic and solid (type II), and purely solid (type III). Pathogenic germline DICER1 variations have been seen in PPB, as well as cystic nephroma, botryoid-type embryonal rhabdomyosarcoma, and ovarian sex cord-stromal tumors. Diagnosis of PPB can be initially challenging as they may present as pneumonia with nonspecific respiratory symptoms including dyspnea, chest pain, cough, and fever. Pathologic subtype is the only independent prognostic factor (with types II and III having worse outcomes). Treatment varies depending on the type and location of PPB. Given this tumor’s aggressive nature, accurate diagnosis and early treatment with surgical resection and/or concurrent chemotherapy is critical. Read More
Meeting name: SPR 2025 Annual Meeting , 2025
Authors: Stephen Steve, Carlock Hunter, Chen Irene, Chaturvedi Apeksha
Somatic overgrowth syndromes and their underlying genetic causes are an emerging area of research and treatment. The PI3K/AKT/mTOR signaling pathway is essential for regulating normal cell growth and division, disruption of which can lead to a diverse array of overlapping disease states including a spectrum of somatic overgrowth disorders. The goal of this exhibit is to familiarize radiologists with the clinical and imaging manifestations of disease states resulting from the above genetic aberration. We first review the physiology of the PI3K/AKT/mTOR signaling pathway and the mechanisms by which its disruption can lead to disease. We then discuss the spectrum of pathology which can result from such a disruption. We overview the genetic aspects of the disease, focusing on overgrowth syndromes including fibroadipose vascular anomaly (FAVA), Parkes Weber, Klippel-Trenaunay, CLOVES syndrome, and PTEN hamartoma tumor syndrome. We then present imaging findings for each of these syndromes using cases encountered at our own institution. Radiologists familiar with clinical-radiologic findings of these entities can direct patients to appropriate genetic testing, thereby guiding decisions regarding endovascular therapy, surgery, and recently available oral medications. Read More
Meeting name: SPR 2025 Annual Meeting , 2025
Authors: Kelly Anna, Huang Jessie, Carlock Hunter, Chaturvedi Apeksha
Keywords: Genetics