Thirunavukkarasu Arun Babu1, Padmapriya Balakrishnan2
1 Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India
2 MBBS graduate, Indira Gandhi Medical College and Research Institute, Puducherry, India
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|Date of Submission||10-Jul-2021|
|Date of Acceptance||20-Aug-2021|
|Date of Web Publication||11-Oct-2021|
Round cell tumors are group of tumors exhibiting hyperchromatic round nucleus, scant cytoplasm, and high nuclear–cytoplasmic ratio in histopathological examination. These tumors need the application of immunohistochemical panel for accurate diagnosis. We are presenting a rare case of small round cell tumor in retroperitoneum in a 3-year-old male child because of rarity in this site and age.
Keywords: Children, desmoplastic round cell tumor, histopathology, soft tissue sarcoma
| Introduction|| |
Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive, soft-tissue sarcoma first described by Gerald and Rosai in 1989. It commonly occurs in adolescent boys and young adults. The abdomen and pelvis are the common sites of involvement and it is one of the important differential diagnoses of peritoneal carcinomatosis.,,s We are reporting a rare case of DSRCT which presented as a retroperitoneal mass in a 3-year-old child who is the youngest patient to be reported in literature.
| Case Report|| |
A 3-year-old male child was brought by his parents with complaints of lower abdominal swelling and difficulty in voiding for 1-month duration. The swelling was increasing in size and was associated with pain. There was no history of trauma, fever, hematuria, and swelling in any other sites of the body. On examination, there was no fever, pallor, lymphadenopathy, ascites. A lower abdominal lump was palpable which was hard, immobile, and extending from umbilicus to pubic region approximately measuring 8 cm × 6 cm. Computed tomography scan showed retroperitoneal tumor measuring 10 cm × 8 cm × 3 cm with differential diagnoses of neuroblastoma, and Wilm's tumor. Exploratory laparotomy and complete resection of the retroperitoneal tumor were done [Figure 1]. Tumor was compressing the bladder. Grossly, tumor was encapsulated with nodular surface and cut surface showed solid gray white areas with focal hemorrhagic areas. Histopathological examination showed small round cells with hyperchromatic nucleus and scant cytoplasm arranged in nodular pattern separated by desmoplastic stroma containing capillaries [Figure 2]. There were no mitotic figures. The immunohistochemistry panel showed tumor cells were positive for WT-1, epithelial membrane antigen, vimentin, and desmin and negative for CD99. Diagnosis of the desmoplastic small round cell of retroperitoneum was done with the help of histopathological and immunohistochemistry findings. Genetic analysis for EWS-WT-I fusion gene product due to t (11p; 22q) was not done due to the lack of facility in our center. The child was started on chemotherapy and is currently on follow-up.
|Figure 1: Resected retroperitoneal tumor measuring 10 cm × 8 cm × 3 cm with nodular surface|
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|Figure 2: Photomicrograph showing tumor cells with scant cytoplasm and round nucleus arranged in nodules separated by fibrous stroma (H and E stain, ×400)|
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| Discussion|| |
DSRCT presents as an intra-abdominal tumor invading omentum, splenic hilum, mesentry, or with multiple peritoneal implants simulating peritoneal carcinomatosis. Cases of DSRCT occurring in extraperitoneal sites such as pleura, testis, sinuses, scalp, ovaries, and bone are also reported in adult and adolescent patients., The differential diagnoses of retroperitoneal tumors in childhood are neuroblastoma, nephroblastoma, lymphoma, primary neuroectodermal tumor (PNET), clear cell sarcoma of kidney, rhabdomyosarcoma, lipoblastoma, and tumors with small round cell histology like neuroblastoma, nephroblastoma, PNET, and rhabdomyosarcoma. DSRCT occurring in retroperitoneum and in this early age is very rare and has to be considered while evaluation with immunohistochemistry. Preoperative diagnosis of DSRCT could not be done in our case. The definitive diagnosis of DSRCT is made with the finding of characteristic t (11p; 22q) and EWS/WT1 gene fusion product by genetic analysis. Life-threatening complications of DSRCT which are often seen at diagnosis are extensive metastasis and migratory thrombophlebitis (Trousseau syndrome). The lung and liver are the most common sites for metastasis. Multidisciplinary methods of treatment such as complete resection of tumor with polychemotherapy and radiotherapy are needed. Various chemotherapy regimens such as P6 protocol, VAIA, CEVAIE, and hyperthermic intraperitoneal chemotherapy are available., Despite aggressive treatment, the survival rate of DSRCT patients is very poor.
| Conclusion|| |
We are reporting a rare case of DSRCT in 3-year-old male child presented as retroperitoneal tumor and causing the diagnostic dilemma. Preoperative diagnosis is essential for the evaluation and treatment of metastasis and trousseau syndrome associated with DSRCT.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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Thirunavukkarasu Arun Babu,
Additional Professor & Head, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri - 522 503, Andhra Pradesh
Source of Support: None, Conflict of Interest: None
[Figure 1], [Figure 2]