RESUMO
RATIONALE: Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma harboring an ASPL-TFE3 fusion gene. Herein, we report a case of ASPS associated with brain metastasis. Immunohistochemistry (IHC) for TFE3 antigen expression and fluorescence in situ hybridization (FISH) for TFE3 rearrangement were performed to arrive at an accurate diagnosis. PATIENT CONCERNS: A 47-year-old man was hospitalized for a headache and numbness of the lower limbs. DIAGNOSES: Preoperative computed tomography and magnetic resonance imaging revealed 2 brain masses, 1 each in the right parietal and temporal bones. We diagnosed this case as ASPS with brain metastasis based on histological morphology, IHC, and FISH. INTERVENTIONS: The patient underwent right skull titanium mesh implantation and supratentorial superficial lesion resection. OUTCOMES: : The patient recovered well after discharged from hospital. LESSONS: The diagnosis of ASPS depends on careful clinical, radiographic, histopathological, IHC, and FISH assessments to arrive at the correct diagnosis. Thus, TFE3 may be useful in the diagnosis and treatment of ASPS.
Assuntos
Neoplasias Encefálicas , Sarcoma Alveolar de Partes Moles , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Fusão Oncogênica/genética , Sarcoma Alveolar de Partes Moles/patologiaRESUMO
To investigate that whether myoepithelial tumors of salivary glands (MTs) with EWSR1 rearrangement display distinctive morphological characteristics and whether EWSR1 detection aids to distinguish malignant myoepithelial tumors (MMTs) from benign myoepithelial tumors (BMTs) of salivary glands. We examined 37 cases of MTs, including 24 BMTs, 13 MMTs, by histological, immunohistochemical, and molecular analysis. All of 37 cases were immunoreactive for CKpan, and at least one myoepithelial marker. 26 of 37 cases of MTs were available to be analyzed for EWSR1 rearrangement, with the result that EWSR1 gene break was detected in 4 cases of 15 BMTs, and 4 cases of 11 MMTs. In addition, the 8 EWSR1-rearranged cases displayed not exactly similar morphological features, covering 4 clear-cell cases, 1 plasmacytoid-cell case, 1 spindle-cell case, 1 epithelioid-cell case, and 1 chordoid-cell case. Our study proposed that EWSR1 rearrangement was present in a subset of MTs, with variable morphological features. Moreover, the presence of EWSR1 rearrangement could not be a forceful evidence to distinguish MMTs from BBTs.
