title: Desmoplastic small round cell tumor with atypical immunohistochemical profile and rhabdoid-like differentiation.
abstract: Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin (cytoplasmic membranous pattern) and CD56, and negative for smooth muscle actin, synaptophysin, CD117, CD45, myogenin, CAM5.2, pancytokeratin, WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1 (SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.
authors.affiliation: Li Liang, Nina Tatevian, Meenakshi Bhattacharjee, Department of Pathology and Laboratory Medicine, the University of Texas Health Science Center at Houston, Houston, TX 77030, United States.
authors.forename: Li
authors.initials: L
authors.lastname: Liang
authors.affiliation: Li Liang, Nina Tatevian, Meenakshi Bhattacharjee, Department of Pathology and Laboratory Medicine, the University of Texas Health Science Center at Houston, Houston, TX 77030, United States.
authors.forename: Nina
authors.initials: N
authors.lastname: Tatevian
authors.affiliation: Li Liang, Nina Tatevian, Meenakshi Bhattacharjee, Department of Pathology and Laboratory Medicine, the University of Texas Health Science Center at Houston, Houston, TX 77030, United States.
authors.forename: Meenakshi
authors.initials: M
authors.lastname: Bhattacharjee
authors.affiliation: Li Liang, Nina Tatevian, Meenakshi Bhattacharjee, Department of Pathology and Laboratory Medicine, the University of Texas Health Science Center at Houston, Houston, TX 77030, United States.
authors.forename: Kuojen
authors.initials: K
authors.lastname: Tsao
authors.affiliation: Li Liang, Nina Tatevian, Meenakshi Bhattacharjee, Department of Pathology and Laboratory Medicine, the University of Texas Health Science Center at Houston, Houston, TX 77030, United States.
authors.forename: John
authors.initials: J
authors.lastname: Hicks
keywords: Cytogenetics; Desmoplastic small round cell tumor; EWSR1-WT1; Rhabdoid cells; Ultrastructure