Expanding the Spectrum of Renal Tumors in Children: Primary Renal Myoepithelial Carcinomas With a Novel EWSR1-KLF15 Fusion.

We report the first 2 examples of primary renal myoepithelial carcinoma (MEC), both occurring in children. Both tumors had the unique morphologic features, immunophenotype, and EWSR1 gene rearrangements supporting the diagnosis. In keeping with the previous observations of an aggressive behavior in pediatric MEC, both cases presented with advanced local stage and distant metastases at the time of diagnosis. The EWSR1 translocation partner was identified as the Kruppel-like factor 15 (KLF15) gene in both tumors, and the novel EWSR1-KLF15 gene fusion transcripts were verified using reverse transcription polymerase chain reaction and Sanger dideoxy sequencing. So far, a role for KLF15 in carcinogenesis has not been established, in contrast to other members of the Kruppel-like family of transcription factors, and no rearrangements involving this gene have been documented to our knowledge. These findings expand the spectrum of pediatric renal tumors to include MEC. The characterization of novel EWSR1-KLF15 fusion transcripts carries important diagnostic implications, as well as clues to understand the pathogenesis of these neoplasms.

Pediatric lymphangiectasia: an imaging spectrum.

BACKGROUND: Lymphangiectasia is a rarely encountered lymphatic dysplasia characterized by lymphatic dilation without proliferation. Although it can occur anywhere, the most common locations are the central conducting lymphatics and the pulmonary and intestinal lymphatic networks. Recent advances in lymphatic interventions have resulted in an increased reliance on imaging to characterize patterns of disease. OBJECTIVE: To describe the patient populations, underlying conditions, and imaging features of lymphangiectasia encountered at a tertiary pediatric institution over a 10-year period and correlate these with pathology and patient outcomes. MATERIALS AND METHODS: We retrospectively reviewed the pathology database from 2002 to 2012 to identify patients with pathologically or surgically proven lymphangiectasia who had undergone cross-sectional imaging. Medical records were reviewed for patient demographics, underlying conditions, treatment and outcome. RESULTS: Thirteen children were identified, ranging in age from 1 month to 16 years. Five had pulmonary lymphangiectasia, four intestinal and four diffuse involvement. Pulmonary imaging findings include diffuse or segmental interlobular septal thickening, pleural effusions and dilated mediastinal lymphatics. Intestinal imaging findings include focal or diffuse bowel wall thickening with central lymphatic dilation. Diffuse involvement included dilation of the central lymphatics and involvement of more than one organ system. Children with infantile presentation and diffuse pulmonary, intestinal or diffuse lymphatic abnormalities had a high mortality rate. Children with later presentations and segmental involvement demonstrated clinical improvement with occasional regression of disease. Three children with dilated central lymphatics on imaging underwent successful lymphatic duct ligation procedures with improved clinical course. CONCLUSION: Lymphangiectasia is a complex disorder with a spectrum of presentations, imaging appearances, treatments and outcomes. Cross-sectional imaging techniques distinguish segmental involvement of a single system (pulmonary or intestinal) from diffuse disease and may show dilated central conducting lymphatics, which may benefit from interventions such as ligation or occlusion.