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• W1892826024 abstract "A 19-year-old white woman who had never been sexually active and who had a medical history of hypothyroidism presented to the emergency room complaining of dizziness, nausea, and a 5-day history of vaginal bleeding. Pelvic sonography showed a 11-cm hypoechoic masslike structure in the right pelvis adjacent to the bladder and uterus. A computed tomographic scan of the abdomen and the pelvis (Figure 1) showed a large, 12-cm, heterogeneous, lobulated, low-attenuation mass in the pelvis that was centered around and above the uterus, extending from the level of the cervix up to the level of the umbilicus. The aspect of the mass that was more inferior appeared more cystic, with a lower-density center. Moderate right hydronephrosis, hydroureter, and multiple low-density lesions were observed within the liver, ranging in sizes from 1 to 2 cm each. No lymphadenopathy or free fluid was noted. The level of the serum tumor marker, cancer antigen 125 (CA 125), was elevated, at 244 IU/mL; whereas the levels of carcinoembryonic antigen, human chorionic gonadotropin, and α-fetoprotein were all within normal ranges. After the patient was stabilized with blood transfusions, she underwent cystoscopy and gynecologic examination under anesthesia. The results of the cystoscopic examination were negative. The gynecologic examination showed nodular deposits in the vaginal posterior wall down to the introitus. The posterior lip of the cervix was also involved by the tumor. The rectovaginal examination demonstrated bilateral involvement of the pelvic sidewall, with fixed free space, and the right side was more involved than the left side. Multiple biopsies from the vaginal wall and cervix were taken and the specimens were submitted fresh for pathologic examination.The histologic examination of the vaginal (Figure 2 and Figure 3, A and B) and cervical biopsies showed well-defined, irregularly shaped solid nests of small-to-medium–size cells embedded in a dense stroma, with a prominent desmoplastic reaction. The cells had scant cytoplasm, however, foci of larger cells with moderate amounts of clear cytoplasm and occasional signet-ring cells were noted (Figure 3, B). The nuclei were round to oval, and were hyperchromatic with uniform, finely distributed, and granular dense chromatin. Mitotic figures and occasional necrotic foci were noted. Immunohistochemical analysis showed that the tumor cells expressed vimentin, pan-cytokeratin AE1/3, epithelial membrane antigen (Figure 4, A), neuron-specific enolase, and desmin (Figure 4, B). The desmin stain showed characteristic paranuclear, cytoplasmic globular dotlike immunoreactivity (Figure 4, B, insert). The tumor cells were negative for carcinoembryonic antigen, CD15, smooth muscle actin, myoglobin, chromogranin, synaptophysin, CA 125, S100, CD99, mucin, and periodic acid–Schiff stain with and without diastase.What is your diagnosis?Desmoplastic small round cell tumor (DSRCT) is a rare and highly malignant neoplasm involving the abdominal cavity of young men. It rarely occurs in women, and even more rarely has cervical or vaginal involvement. This paper describes an unusual case of intra-abdominal DSRCT with vaginal and cervical involvement, and an elevated level of CA 125. The patient was a 19-year-old woman who presented with vaginal bleeding, anemia, and constipation. A computed tomographic scan revealed a 12-cm mass within the pelvis, and multiple liver metastases. Vaginal and cervical biopsies were performed. The cytomorphology, histology, and immunohistochemical analysis of the tumor confirmed an intra-abdominal DSRCT. Despite radiation and chemotherapy, the patient died 3 months after the initial diagnosis. An intra-abdominal DSRCT should be considered in the differential diagnosis and workup of undifferentiated tumors of the vagina or the cervix and may be associated with an elevated level of serum CA 125.Desmoplastic small round cell tumor (DSRCT) is a rare and highly malignant polyphenotypic neoplasm of uncertain histogenesis that was first described by Sesterhenn et al in 1987.1 The majority of the cases involve the peritoneal cavity of the pelvis and the abdomen of young men. However, cases involving a few other sites have been reported. In women, DSRCT has been reported in ovary, fallopian tube,2 liver,3 lymph nodes, colon, and, very rarely, in the uterus and vagina.2 Furthermore, rare cases of DSRCT have been shown to be associated with a high serum level of CA 125.4The DSRCT is characterized by a proliferation of aggregates of small round cells embedded in a desmoplastic stroma. However, it is difficult to diagnose DSRCT on initial cytologic or histologic examination. The differential diagnoses may include the other small, round, blue cell tumors, such as small cell carcinoma, lymphoma, rhabdomyosarcoma, neuroblastoma, peripheral primitive neuroectodermal tumor/Ewing sarcoma, melanoma, Wilms tumor, malignant mesothelioma, and endometrial stromal sarcoma.5 The unique immunohistochemical profile or molecular features of DSRCT are considered diagnostic. Cells of DSRCTs show evidence of polyphenotypic differentiation (divergent pattern of differentiation), with expression of epithelial markers (epithelial membrane antigen and pancytokeratin AE1/3), mesenchymal markers (desmin and vimentin), and neural markers (neuron-specific enolase). A paranuclear cytoplasmic globular immunoreactivity for desmin (as in our case) has been shown to be an important characteristic of DSRCTs.25 Some tumor cells are also immunoreactive for Wilms tumor 1.2 The tumor cells of DSRCT exhibit a characteristic reciprocal chromosomal translocation, t(11;22)(p13;q12), resulting in fusion of the Ewing sarcoma gene, EWS, and the Wilms tumor gene, WT1. This translocation can be detected by the reverse-transcriptase polymerase chain reaction or by fluorescence in situ hybridization.6 Detection of EWS-WT1 fusion genes becomes critical for the diagnosis if the immunohistochemical features of DSRCT are lacking.This case showed a high serum level of CA 125. This association has been previously reported in 2 cases of DSRCT in a pediatric patient,78 and 2 adult cases of DSRCT.49 To our knowledge, this case is the fifth case to show this association and to suggest that CA 125 may be a useful marker of DSRCT. High levels of CA 125 have also been shown to be associated with ovarian, fallopian tube, endometrial, breast, lung, and colonic carcinoma.10In this particular patient, the tumor was inoperable and the patient did not tolerate a second course of chemotherapy because of development of pancytopenia, fever, sepsis, and intractable nausea and vomiting. The patient died 3 months after the initial diagnosis.In conclusion, DSRCT has a poor overall prognosis. Vaginal bleeding may be the initial presentation of intra-abdominal DSRCT with involvement of the vagina and the cervix. The histologic features, with an absence of differentiation, combined with unique polyphenotyping immunohistochemical staining pattern, can help to establish the diagnosis of DSRCT." @default.
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• W1892826024 title "A 19-Year-Old Woman With a Cervicovaginal Mass and Elevated Serum CA 125" @default.
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