Wilms tumors, also known as nephroblastomas, are overwhelmingly the most common renal tumors in children. While radiologists are abundantly familiar with the imaging appearances of these tumors, their knowledge of underlying histologic features, prognostic variables, and treatment approaches may not be equally robust. Histologically typically triphasic and containing differing proportions of blastemal, epithelial, and stromal components, the prognosis of individual subtypes differs. The “teratoid” variant of Wilms tumor contains components of differentiated tissues such as muscle, bone, cartilage, and fat. Focal and diffuse anaplasia are important histological features with diffuse anaplasia recognized as the most important prognostically unfavorable feature. In addition, there is an intermediate category of “nuclear unrest” which carries some but not all features of anaplasia. Clinical approaches differ between the two major renal tumor clinical research groups: the International Society of Paediatric Oncology (SIOP) Renal Tumor Study Group and the Children's Oncology Group (COG) Renal Tumor Group. This exhibit uses a case-based template of radiologic-pathologic correlation of different Wilms subtypes encountered at our institution, outlining treatment for individual tumor subtypes. We discuss differential diagnoses which may overlap with Wilms tumor on imaging, including nephrogenic rests, mesoblastic nephroma, malignant rhabdoid tumor of the kidney, clear cell sarcoma, and pediatric cystic nephroma (as a mimic of cystic Wilms tumor). We review Wilms tumor classification with known syndromic associations. We provide information on staging through the National Wilms Tumor Study system covering imaging and post-surgical findings. The ultimate goal is to make radiologists more effective members of the interdisciplinary tumor boards through enhancing a holistic understanding of Wilms tumor. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Dykie Adam, Katzman Philip, Chaturvedi Apeksha

Keywords: Wilm's Tumor, Kidneys, Abdominal Imaging

Congenital hepatic vascular shunts occur secondary to abnormal formation and aberrant communication of blood vessels during fetal development. This spectrum of anomalies can be challenging to diagnose without a strong understanding of their embryology and clinical and imaging manifestations. Ultrasound is among the most widely used modalities in pediatric imaging, given its real-time nature, easy portability and lack of radiation exposure. This case-based exhibit reviews ultrasound and doppler imaging findings of congenital vascular shunts in the pediatric liver. The broad categories of congenital hepatic vascular shunts include: arteriovenous (hepatic artery to hepatic vein), arterioportal (hepatic artery to portal vein), and portovenous (portal vein to hepatic vein). This exhibit starts by demonstrating the formation of normal hepatic vasculature during fetal development. This is followed by a discussion of embryological aberrations which lead to vascular shunts, clinical context of each anomaly (when to wait, worry or intervene), and the role of imaging in detection, quantification, prognostication and treatment of these anomalies. There are case presentations and discussion of the following vascular anomalies: extrahepatic portosystemic shunt (also known as Abernethy Malformation), intrahepatic portosystemic shunt, arterioportal fistula, intrahepatic arteriovenous malformation, patent ductus venosus, infradiaphragmatic total anomalous pulmonary venous return, and hepatic hemangioma. Illustrations and ultrasound/Doppler images are included for most of these cases. Besides providing a clinical and imaging review of anomalous hepatic vascular communications, this exhibit will reinforce an understanding of physiologic hepatic vascular shunts in fetal life and describe the sequence of successful transition to neonatal circulation. This understanding can be applied to clinical decision making. Supplemental Files- legends: 1. File 1: Hepatic vascular shunts. 2. File 2: Portosystemic shunt. Turbulent flow within an aberrant vessel connecting left portal to left hepatic vein. Flow pulsatility/triphasicity within the portal vein. 3. File 3: Intrahepatic Arteriovenous Malformation. Tangle of enlarged vessels within left liver lobe. High velocity, low resistance arterial waveforms and pulsatile venous flow. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Chughtai Komal, Saul David, Chaturvedi Apeksha

Keywords: Arteriovenous malformation, Patent ductus venosus, Arterioportal fistula

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

Keywords: Oncology, Thoracic, Blastomas

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