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WT1 Expression in the Female Genital Tract

Bárcena, Carmen MD; Oliva, Esther MD

doi: 10.1097/PAP.0b013e318234aaed
Review Articles

The Wilms tumor gene 1 (WT1) has been reported in normal tissues and many neoplasms of the female genital tract. This review discusses WT1 expression in the female genital tract and its potential utility in the differential diagnosis of neoplasms that occur at this location. WT1 is of value in the differential diagnosis of synchronous serous carcinomas arising in the ovary/fallopian tube/peritoneum and endometrium, as strong WT1 positivity in both tumors points toward an extrauterine origin. In addition, WT1 can be used to distinguish sex cord stromal tumors (WT1 positive) from endometrioid carcinomas (OECs). WT1 expression is not helpful in the differential diagnosis of ovarian serous carcinomas (OSCs) and transitional carcinomas, as both are typically positive and has limited value in the distinction of serous tumors arising in the ovary/fallopian tube/peritoneum from mesotheliomas. WT1 is also not helpful to differentiate small cell carcinoma of hypercalcemic type from juvenile granulosa cell tumor, a common diagnostic problem. Intra-abdominal desmoplastic round cell tumor reacts to WT1 (C-terminal) in contrast to all other tumors discussed which helps to separate this rare tumor from most other small round cell tumors that may involve, primarily or secondarily, the ovary with the exception of small cell carcinoma of hypercalcemic type that typically reacts with the N-terminal of WT1.

Pathology Department, Massachusetts General Hospital, Boston, MA

The authors have no funding or conflicts of interest to disclose.

Reprints: Esther Oliva, MD, Pathology Department (Warren 2), Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114 (e-mail: All figures can be viewed online in color at

© 2011 Lippincott Williams & Wilkins, Inc.