ABSTRACT
Epithelioid rhabdomyosarcoma is a rare rhabdomyosarcoma variant for which no diagnostic recurrent driver genetic events have been identified. Here we report a rapidly progressive and widely metastatic rhabdomyosarcoma with epithelioid features that arose in the thigh of a male infant. Conventional cytogenetics revealed a t(8;13)(p11.2;q14) translocation. Fluorescence in situ hybridization studies showed rearrangement of FOXO1 and amplification of its 3" end, and rearrangement of NSD3 and amplification of its 5` end. Next generation sequencing identified a NSD3::FOXO1 fusion, which is a previously unreported gene fusion. We also review the historic report of a FOXO1::FGFR1 fusion in a solid variant of alveolar rhabdomyosarcoma and propose that NSD3::FOXO1 fusion may have been the more appropriate interpretation of the data presented in that report.
Subject(s)
Paired Box Transcription Factors , Rhabdomyosarcoma , Humans , Infant , Male , Forkhead Box Protein O1/genetics , Forkhead Transcription Factors/genetics , In Situ Hybridization, Fluorescence , Paired Box Transcription Factors/genetics , Receptor, Fibroblast Growth Factor, Type 1/genetics , Rhabdomyosarcoma/diagnosis , Rhabdomyosarcoma/geneticsABSTRACT
The canal of Nuck, caused by the failed closure of the processus vaginalis in the female, is the continued outpouching of parietal peritoneum through the inguinal canal to the labia majora. Disorders of the canal of Nuck include hernia and hydrocele. Some canal of Nuck hernias, especially of the ovary, may result in emergent complications such as incarceration, strangulation, and ovarian torsion. Knowledge of canal of Nuck disorders and prompt diagnosis are important to avoid serious complications. Imaging, especially ultrasound, is essential for timely diagnosis, leading to appropriate management and better patient care.
