Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation.
We report a primary uterine sarcoma with classic histologic, immunohistochemical, and ultrastructural features of a malignant extrarenal rhabdoid tumor (MERT). It arose in a 71-year-old woman who presented with postmenopausal bleeding, ascites, and a right pelvic mass. Malignant cells with rhabdoid morphology were identified by cytologic examination of the peritoneal fluid. Exploratory laparotomy revealed a 10-cm right adnexal mass and disseminated peritoneal tumor. Pathologic study showed diffuse expansion of the endometrial stroma by rhabdoid-like cells with transmural infiltration of the myometrium and extensive involvement of uterine serosa and right ovary by tumor. Neoplastic cells were immunoreactive for vimentin, cytokeratin, and epithelial membrane antigen, and cytoplasmic whorls of intermediate filaments were observed by electron microscopy. Fluorescence in situ hybridization (FISH) studies with chromosome 22-specific probes showed no loss of the INI1 gene, and no coding sequence mutation was identified.
Knapik
J
J
Department of Pathology, University of Florida College of Medicine, Gainesville, FL 32610-0275, USA.
Yachnis
A T
AT
Ripley
D
D
Biegel
J A
JA
Rathor
S
S
Hardt
N S
NS
Talerman
A
A
Wilkinson
E J
EJ
D000368:Aged; D000951:Antigens, Neoplasm / Q000032:analysis; D001202:Ascitic Fluid / Q000175:diagnosis*; D014408:Biomarkers, Tumor / Q000032:analysis; D002868:Chromosomal Proteins, Non-Histone; D003593:Cytoplasm / Q000648:ultrastructure; D004268:DNA-Binding Proteins / Q000032:analysis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007382:Intermediate Filaments / Q000648:ultrastructure; D009154:Mutation; D018335:Rhabdoid Tumor / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics; D000071796:SMARCB1 Protein; D012509:Sarcoma / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics; D014157:Transcription Factors; D014594:Uterine Neoplasms / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics
D000951:Antigens, Neoplasm; D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors