|Year : 2015 | Volume
| Issue : 3 | Page : 650
Primary desmoplastic small round cell tumor of the testis: First case in India and review of the literature
MV Manjula, YS Pawar
Department of Radiation Oncology, Yashoda Cancer Institute, Somajiguda, Hyderabad, Andhra Pradesh, India
|Date of Web Publication||9-Oct-2015|
Y S Pawar
Department of Radiation Oncology, Yashoda Cancer Institute, Raj Bhavan Road, Somajiguda, Hyderabad, Andhra Pradesh
Source of Support: None, Conflict of Interest: None
The purpose of this study is to describe the aggressive clinical behavior of desmoplastic small round cell tumor (DSRCT) of the testis and review of the literature. A 17-year-old male having painless testicular mass and neck swelling diagnosed to have metastatic DSRCT of the testis. Patient received aggressive chemotherapy with P6 protocol. The patient progressed on treatment and died due to extensive metastasis. Primary DSRCT of the testis is extremely rare mesenchymal tumor occurring in adolescence, with a tendency for extensive metastases. Management should be multimodal approach with aggressive polychemotherapy, surgical tumor debulking and radiotherapy. However the overall prognosis is very poor with <20% survival rates at 2 years.
Keywords: Desmoplastic small round cell tumor, primary desmoplastic small round cell tumor, testicular tumors
|How to cite this article:|
Manjula M V, Pawar Y S. Primary desmoplastic small round cell tumor of the testis: First case in India and review of the literature. J Can Res Ther 2015;11:650
|How to cite this URL:|
Manjula M V, Pawar Y S. Primary desmoplastic small round cell tumor of the testis: First case in India and review of the literature. J Can Res Ther [serial online] 2015 [cited 2020 Jul 14];11:650. Available from: http://www.cancerjournal.net/text.asp?2015/11/3/650/138210
| > Introduction|| |
Desmoplastic small round cell tumor (DSRCT) is a rare aggressive mesenchymal malignancy, primarily occurring in adolescents and young adults. The common site of origin being abdominal cavity and pelvic peritoneum. , Though extra abdominal DSRCTs are rare, primary DSRCT arising from ethmoid sinuses, scalp, hand, pleura, chest and posterior cranial fossa have been reported.  DSRCTs of the genital system are extremely rare, reported cases have involved the paratesticular region.  Moreover, only one case of primary DSRCT of the testis has been reported in the English literature.  To the best of our knowledge, this is the second case report of primary DSRCT of testis and probably the first case in Indian literature.
| > Case report|| |
This was a case report of a 17-year-old male patient who presented with painless swelling in the right testis, insidious in onset, gradually progressive over 6 months. He also reported a 3 month history of painless progressive swelling in the neck. There was no history of trauma, fever, night sweats, significant weight loss or loss of appetite. Physical examination revealed left supraclavicular lymphadenopathy measuring 4 × 4 cm, hard and fixed. Systemic examination was unremarkable. Testicular examination revealed hard, non-tender, solitary mass involving the right testis. No significant inguinal lymphnodes noted.
Blood counts, renal and liver parameters, lactic dehydrogenase (LDH), beta human chorionic gonadotropin, alpha-fetoprotein were normal. Ultrasonography scrotum revealed right testicular solid mass measuring 7 × 7 cm extending into adjacent structures. Computed tomography scan Abdomen suggested multiple para aortic lymphadenopathy, largest measuring 4 × 4 cm. With provisional diagnosis of testicular germ cell tumor high inguinal orchidectomy was performed. Histologically the specimen revealed well-circumscribed solid tumor nodules within a dense desmoplastic stroma [Figure 1].
Immunohistochemically tumor cells were positive for smooth muscle actin (SMA), vimentin, CD99, desmin, neuron-specific enolase, placental alkaline phosphatase. Furthermore the IHC demonstrated the characteristic "perinuclear dot-like structure immunostaining with desmin" [Figure 2]. These histological and IHC findings favored the diagnosis of DSRCT.
|Figure 1: Department of Histopathology, Yashoda Cancer Hospital, Hyderabad Desmoplastic small round cell tumor depicting classical small round blue cell nests|
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|Figure 2: Department of Histopathology, Yashoda Cancer Hospital, Hyderabad Desmoplastic small round cell tumor, showing the characteristic desmoplastic stroma and angulated nests of small round cells|
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After discussion in multi-disciplinary tumor board he was considered for systemic multidrug chemotherapy with P6 protocol. He received two cycles of chemotherapy with no obvious response. However, patient developed multiple metastases involving liver, pancreas, lungs and mediastinum and finally succumbed to the disease.
| > Discussion|| |
DSRCT is a rare aggressive neoplasm, classified as a soft-tissue sarcoma occurring in Caucasian adolescents.  Patients' age at diagnosis ranges from 3 to 48 years, mean age being 21 years.
There are no risk factors identified specific to the disease. Tumor appears to rise from the primitive cells of childhood and few consider this entity as a childhood cancer.
DSRCT is associated with unique chromosomal translocation t (11:22) (p13:q12) resulting in an EWS/WT1 transcript.  This feature is diagnostic of DSRCT. This transcript codes for a protein which is a transcriptional activator that fails to suppress tumor growth.
DSRCT was first described as a distinct entity by Gerald and Rosai in 1989.  It has a propensity for serosal surfaces, especially the peritoneal cavity  most commonly presenting with crampy abdominal pain and an associated mass.  Patients present with numerous peritoneal implants involving abdomen and pelvis. Extra abdominal DSRCTs are rare, however tumors arising from ethmoid sinuses, scalp, pleura, chest, posterior cranial fossa,  lung, head neck and salivary glands have been reported.  Although most cases have been described in young men and children, cases are reported in older patients also.  DSRCTs of the genital system are extremely rare. Only one abdominal DSRCT with scrotal metastases has been reported. However sporadic cases have occurred in the paratesticular region.  In women, sometimes mimics ovarian tumors,  with elevated CA 125 levels. 
Only one case of primary DSRCT of the testis has been reported in the English literature and we present the second case report of primary DSRCT involving testis which probably be the first case in Indian literature. Metastases occur most commonly to the liver, lung, bone marrow and lymph nodes. 
Morphologically DSRCT is characterized by nests of mitotically active, small, round blue cells proliferating in a cellular stroma. IHC characteristics of DSRCT exhibit typical positivity for SMA, vimentin, CD99, desmin, neuron-specific enolase and placental alkaline phosphatase.
Extensive laboratory tests do not contribute to clinical benefit. Several studies have described DSRCT with elevated serum CA 125 and LDH levels in certain cases.  These may be useful prognostic factors for monitoring the response to treatment.
Because these aggressive tumors present as painless swelling and in young males, the diagnosis of DSRCT should always be considered along with commonly occurring germ cell tumors, lymphomas, rhabdomyosarcomas, neuroblastomas, primitive neuroectodermal tumors, Ewing's sarcoma, Wilm's tumor.
Management of DSRCT remains challenging as there is no standard protocol or definitive treatment due to the rare variety. The standard treatment protocol is yet to be generated.
The diffuse nature of the tumor often makes resection with negative microscopic margin impossible and only surgical debulking can be attempted. Extensive aggressive surgical approach adds only to the morbidity without any relevant clinical or survival benefit. Hence intensive high dose chemotherapy with modalities of treatment like tumor debulking, cytoreductive surgery and whole abdomino-pelvic radiation therapy have been attempted with the hopes of prolonging disease-free survival.
Preferred chemotherapy is P6 protocol, which consists of seven courses of cyclophosphamide, doxorubicin, vincristine, ifosfamide and etoposide. Irinotecan, topotecan, carboplatin and cisplatin can be added in selected patients depending on the extent of the disease. However due to the presence of stromal composition, these tumors show little response to chemotherapy.
| > Conclusion|| |
DSRCTs is rare and remains a vexing disease that deserves early diagnosis and definitive treatment. Multimodality treatment approach with high dose aggressive neoadjuvant chemotherapy, optimal surgical debulking, radiotherapy and myeloablative chemotherapy with stem cell rescue have been attempted with hopes of achieving some survival. 
Overall, the prognosis for DSRCT is slim with griming survival rates of <20% at 2 years. The disease underlines its aggressive nature demonstrating its progression while on treatment that happened with our patient. Though rare diagnosis is rarely correct however correct diagnosing of this entity at the early stage remains important and should be kept in mind along with common differential diagnosis.
| > References|| |
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[Figure 1], [Figure 2]