RESUMO
BACKGROUND: The conventionally understood pathogenesis of agminated Spitz nevi includes a mosaic HRAS mutation followed by copy number gains in 11p. However, we have recently observed agminated presentations of fusion-driven melanocytic neoplasms. METHODS: We retrieved cases from our database of benign fusion-induced melanocytic neoplasms with an agminated presentation. Both the primary lesion and the secondary lesion were sequenced. TERT-promoter mutational testing and the melanoma fluorescence in situ hybridization assay were also performed. RESULTS: Three cases were included. Two had a PRKCA fusion (partners ATP2B4 and MPZL1) and one had a ZCCHC8::ROS1 fusion. None of the cases met morphologic or molecular criteria for malignancy. There was no evidence of tumor progression in secondary lesions. The same fusion was identified in the primary and secondary lesions. None of the patients developed evidence of nodal or systemic metastasis. CONCLUSIONS: We present accumulating evidence that fusion-driven melanocytic neoplasms can present with an agminated presentation. The differential diagnosis of an agminated presentation versus a locally recurrent or potentially locally metastatic tumor is critical, and accurate diagnosis has significant prognostic and therapeutic consequences for the patient. As with HRAS mutations, fusion-driven melanocytic tumors may have an agminated presentation.
Assuntos
Melanoma , Nevo de Células Epitelioides e Fusiformes , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Proteínas Tirosina Quinases/genética , Hibridização in Situ Fluorescente , Proteínas Proto-Oncogênicas/genética , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Nevo de Células Epitelioides e Fusiformes/genética , Fosfoproteínas/genética , Peptídeos e Proteínas de Sinalização Intracelular/genéticaRESUMO
BACKGROUND: Undifferentiated embryonal sarcoma (UES) is the fourth most common hepatic malignancy diagnosed in children, but is extremely rare in older patients. Classification of the tumor is difficult because of its unknown etiology. PURPOSE: The purpose of this study is to describe a case of UES in a 19-year-old pregnant woman with UES who delivered a stillborn fetus and passed away because of UES, and how medical imaging can be used to help differentially diagnose UES. CONCLUSION: A multiphase liver computed tomography protocol best demonstrates all forms of liver cancers and lesions; therefore, it is the scan of choice when a liver abnormality is suspected but the type of lesion is unknown.