| Abstract|| |
Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm of uncertain histogenesis that preferentially involves the abdominal and pelvic cavities. DSRCT mainly develops in adolescent and young adults with a strong male predominance; the male to female ratio is 4:1. Ovarian location is exceptional. DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. It is a poorly understood malignancy with a very characteristic morphology, immunophenotype, cytogenetic features, and poor prognosis. This tumor can co-express epithelial, neuronal, and mesenchymal markers. Despite intensive therapy, including surgery, radiotherapy and chemotherapy, and immunotherapy; the 5-year survival is less than 15%.
Keywords: Desmoplastic small round cell tumor, DSRCT, ovarian tumor, small round blue cell tumor, young women
|How to cite this article:|
Phulware RH, Roy M, Singh N, Kumar S, Mathur SR. Desmoplastic small round cell tumor of the ovary: A rare but poor prognostic disease in a young woman!. Indian J Pathol Microbiol 2021;64:206-9
|How to cite this URL:|
Phulware RH, Roy M, Singh N, Kumar S, Mathur SR. Desmoplastic small round cell tumor of the ovary: A rare but poor prognostic disease in a young woman!. Indian J Pathol Microbiol [serial online] 2021 [cited 2021 May 10];64:206-9. Available from: https://www.ijpmonline.org/text.asp?2021/64/1/206/306531
| Introduction|| |
The term intra-abdominal desmoplastic small cell tumour with divergent differentiation (DSRCT) was first described by pathologists William L. Gerald and Juan Rosai in 1989. Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm that preferentially involves the abdominal and pelvic cavities and grows along serosal surfaces, and most often found in young males with a reported male to female ratio of four to one [4:1]. Unfortunately, DSRCT is often widely disseminated throughout the peritoneal cavity at diagnosis and quickly recurs despite treatment, hence prognosis is exceedingly poor.,
If DSRCT is a rare disease, ovarian involvement is even exceptional with only few reported cases in the literature. The present study describes a case of DSRCT in a young woman.
| Case History|| |
We report a 19-year-old unmarried female who presented with complaints of lump in the abdomen. She gave a past history of ovarian cystectomy performed a year ago. Pelvic ultrasonography and contrast enhanced computerized tomography revealed a large abdomino-pelvic mass measuring 16 × 12.3 cm compressing both ureters and rectum along with large left para-aortic lymph node of 4.15 cm. The uterus and adnexa were not seen separately.
She underwent exploratory laparotomy, along with right salphingo-oopherectomy and infracolic omentectomy. Histology sections showed sheets and nests of small round cells separated focally by desmoplastic stroma and sometimes central necrosis. The tumor cells were small to medium in size with round to oval hyperchromatic nuclei and inconspicuous nucleoli. The cytoplasm was scanty and cells borders were indistinct. The desmoplastic stroma was composed of elongated spindled cells with fibroblastic features. The mitotic count was estimated up to 12 mitotic figures per 10 high power fields [Figure 1]. Tumor cells with similar morphology were seen in the omentectomy specimen also. Immunohistochemical staining was performed using the antigen retrieval method. The tumor cells were immunopositive for epithelial markers [Pan cytokeratin, Epithelial membrane antigen (EMA)], mesenchymal (Vimentin), neural (Synaptophysin, CD56) and CD99/MIC2, FLI 1 and WT1; while they were negative for Desmin, Myogenin, smooth muscle actin, chromogranin, CD10, leukocyte common antigen (LCA) and Inhibin [Figure 2] and [Figure 3]. Based on the overall morphological features, immunohistochemical findings, a final diagnosis of ovarian involvement of a DSRCT was made.
|Figure 1: (a and b) Specimen of 'right ovarian mass' measures 13x10x7cm. grossly the ovarian mass was irregularly lobulated, solid and appeared to be surrounded by a pseudo capsule. Cut surface is predominantly solid, firm in consistency with areas of haemorrhage, necrosis and cystic change. (c and d) Haematoxylin and eosin (H&E) stained Section showing nests of small round cells surrounded by dense desmoplastic stroma (X100, X200). (e and f) Tumor Cells with hyperchromatic nuclei with inconspicuous nucleoli and mitosis (X600)|
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|Figure 2: These tumor cells were immunopositive for Pan cytokeratin (PANCK) (a), Epithelial membrane antigen (EMA) (b), CD56 (c), Synaptophysin (d), Vimentin (e), Wilms tumor protein(WT-1) (f)|
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|Figure 3: On further immunohistochemistry the tumor cells are immunopositive for CD99/MIC-2 (a) and FLI-1 (b), while the tumor cells were negative for Leucocyte common antigen (LCA/CD45) (c) and Inhibin (d)|
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| Discussion|| |
Desmoplastic small round cell tumor (DSRCT) is a rare and poorly understood malignancy with a very characteristic morphology, immunophenotype, cytogenetic features, and aggressive behaviour with poor prognosis.
The clinical presentation of DSRCT is nonspecific however clinical symptoms usually related to the site of involvement and include pain, weight loss, abdominal distension, palpable mass and ascites. The index patient presented with a history of progressive abdominal distention, an apparent mass with an irregular margin, lack of mobility, and ill-defined boundaries, and tenderness on palpation. In addition, the patient complained of secondary amenorrhea due to involvement of the tumor in both ovaries.
It is distinguished by the chromosomal translocation t (11;22) (p13; q12) resulting in the fusion of the Ewing's sarcoma (EWSR1) and the Wilms' tumour (WT1) genes. This chimeric fusion protein has transcriptional regulatory activity and may be involved in tumorogenesis. The histogenesis of this tumor is still unclear, but co-expression of epithelial, mesenchymal, and neural antigens by tumor cells leads us to believe that DSRCT may arise from a primitive pluripotent stem cell with divergent differentiation. The origin of this tumor cell is still uncertain. However, Gerald et al. suggested that DSRCT could be of mesothelial origin on the basis of their growth on the peritoneal surfaces and involvement of WT1.,,,,
CA-125 is often elevated with a wide reported range (35.9–2823 U/mL). Generally, only one ovary is involved with an average size of 11 cm, but most patients have widespread disease throughout the peritoneal cavity on presentation. The most common sites of metastasis are the liver, lymph nodes, lung and bone marrow.,, As per the prior literature, DSRCTs belong to the family of 'small round blue cell tumors', which consists of several tumor types, including extra-skeletal Ewing's sarcoma/primitive neuroectodermal tumors, rhabdomyosarcoma, adrenal neuroblastoma, hepatoblastoma and lymphoma.,
The hallmark of DSRCT is nests of small to medium size cells with scanty cytoplasm embedded in fibrotic and desmoplastic stroma. This tumour has characteristic light microscopic features consisting of uniform cells with round to oval nucleus and clumped chromatin. Nucleoli are rare. The cytoplasm is of moderate amounts with indistinct cell borders. Mitotic figures and individual cell necrosis is common. Occasional cells show hyaline eosinophilic cytoplasm and displaced nuclei mimicking a malignant rhabdoid tumour. The glycogen, as demonstrated by PAS diastase-sensitive stain, is usually sparse. The reticuline stain demonstrates the clustering of groups of tumour cells separated by a dense fibrobrovascular stroma containing spindle shaped cells and small calibre blood vessels. This desmoplastic feature is very characteristic and separates this group of tumours from other small blue round cell tumours of childhood. The diagnosis of this tumor on haematoxylin-eosin sections alone is a tough task.,,,
Till date, only 18 cases of ovarian DSRCT, previously reported in women in the English literature [Young et al. and Nakayama et al. (3 cases each), Ota et al. and Fang et al. (2 cases each), one case each by Zaloudek et al., Solomovitz et al., Parker et al., Elhajj et al., Engohan-Aloghe et al., Altal OF et al. Xie YP et al. and Neff RT et al.,,,,, The majority of the patient was presented in their first or second decade of life; with average tumor size was approximately 10 cm and succumbed to death within one year of diagnosis of disease in spite of surgery and chemotherapy.
In conclusion, based on previous studies and the present case, it is known that DSRCT is an uncommon and aggressive tumor that affects adolescents, particularly young men, and shows a distinct clinical presentation with extremely aggressive clinical behavior. In spite of this, the gynecological oncologist should be aware of this disease as a part of the differential diagnosis for an ovarian neoplasm. Although the commonest ovarian tumors in young females are germ cell tumors and rarity of this clinical entity, ovarian DSRCT should be in the list of differential diagnosis for adnexal mass in young patients with peritoneal metastasis.
Despite intensive therapy, including surgery, radiotherapy and chemotherapy; the 5-year survival is less than 15% and the interval from the time of diagnosis to death ranged from 4 to 42 months, with universal relapse and recurrence. In the present case, patient died after 3 months of diagnosis. The role of new therapeutic approaches including molecularly targeted therapies and immunotherapy are yet to be defined.,,,
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Conflicts of interest
There are no conflicts of interest.
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Sandeep R Mathur
Professor, Department of Pathology, All India Institute of Medical Sciences (AIIMS), New Delhi-110029
Source of Support: None, Conflict of Interest: None
[Figure 1], [Figure 2], [Figure 3]