Testicular Desmoplastic Small Round Cell Tumor: A Description Of One Case And Review Of The Literature

Background and objective:Desmoplastic small round cell tumor(DSRCT) is an extremely rare and highly aggressive malignancy with poor outcome that predominantly occurs mostly in males (96%) and young adults.It has been separated from other small round cell tumors for approximately twenty years because of its characteristic pathological and clinical features.It typically presents as a large intra-abdominal mass with numerous peritoneal implants,.However,in recent years there have reports on DSRCT affecting other body sites inclluding the paratesticular region,the pleural serosa,the posterior cranial fossa,soft tissues and bone,the ovary,the parotid gland,and the lung.On both histologic and cytologic examinations, the tumors consisted of well-defined nests of mitotically active "small blue cells" with scant cytoplasm embedded in a densely fibrotic stroma is the striking morphologic features of DSRCT.Recent studies have demonstrated an association between DSRCT and a translocation (11;22)(p13;q12), resulting in a fusion gene between the Ewing's sarcoma gene and the Wilms tumour gene.Immunohistochemically, DSRCT demonstrates a divergent differentiation, a striking feature of this tumor.Tumor cells are immunoreactive for keratin, vimentin, desmin, and neuron-specific enolase but nonreactive with HBA-71 and anti-S-100. The desmoplastic stroma of DSRCT stains positive for vimentin and smooth muscle actin. These features distinguish DSRCT from other members of the family of small round cell tumors.such as Ewing's sarcoma.Materials and Methods:A 45-year-old male presented with a 4-month history of right testis ache and distention was admitted into our hospital.Two hard masses were palpated both in the patient's right inguinal and testis .The patient underwent aggressive surgery and was accurately diagnosed as DSRCT by biopsy of the masses after complete resection. 5 cycles of multi-agent chemotherapy including cyclophosphamide, vincristine and epirubicin were followed.The chemotherapy was halted because of financially pression. 4 months later,the situation was deteriorated ,however,the treament was terminated after 1 cycle of another chemotherapy protocol including isofosfamide and etoposide as the same cause. He died 14 months after the initial diagnosis.The epidemiological, clinical, radiologic,pathohistological and immunohistochemical features are examined and analyzed.Results:The patient had the typical epidemiological,clinical, radiologic,pathohistolo -gical and immunohistochemical features of DSRCT with elevated serum CA125. Treatment with operation and chemotherapy presented diminution of pulmonary metastases,disappearance of retroperitoneal lymph node metastases and decline of serum CA125. The curative effect was evaluated as partial response . Unfortunately, the tumor relapsed with reincreased CA125 and pulmonary obstruction after the halt of chemotherapy 4 months later. Subsequently ,the patient undertook one cycle of another chemotherapy containing isofosfamide and etoposide, Unfortunately, pulmonary metastases and retroperitoneal relapsed.The overall survival was 14 months.Conclusions:DSRCT is a rare and highly aggressive tumour that usually occurs in males during adolescence and early adulthood. The diagnosis of DSRCT can be considered in adolescents and which however can be established with correlation of clinical, pathohistological, immunohistochemical and cytogenetic features. This experience confirms that DSRCT is a rare and highly lethal disease since the majority of patients are unresectable when diagnosed and some patients with chemosensitive tumours usually result in short-lasting response to chemotherapy and high rate of recurrence. In DSRCT there has not yet been a case in which treatment has led to a curative outcome.Anyway, the recent literatures suggest that multidisciplinary treatments including radical surgical excision, multi-agent chemotherapy and radiotherapy or peripheral blood stem cell transplantation might be the proper approaches to this rare malignancy.Until more effective forms of treatment are found, we recommend treatment with chemotherapy, surgery, and radiotherapy, with close monitoring of the patient.Better survival rates are related to complete resection of the tumour. The prognosis is also better in those patients who present with primary localisation at the paratesticular level without intraabdominal involvement.It is proposed that new chemotherapy protocols be developed for treating this highly malignant disease...