An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular Studies
Desmoplastic small round cell tumour (DSRCT) is an aggressive and a rare neoplasm. We report on a 34-year-old male who had abdominal discomfort with a large intraperitoneal mass. Histological examination of the tumour biopsy revealed sheets of small round cells. The cells were positive with vimentin...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2011-01-01
|
| Series: | Case Reports in Oncological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2011/183938 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832548747830099968 |
|---|---|
| author | Preethika Angunawela Alhossain A. Khalafallah Karen Wolfswinkel David Seaton Terry Brain |
| author_facet | Preethika Angunawela Alhossain A. Khalafallah Karen Wolfswinkel David Seaton Terry Brain |
| author_sort | Preethika Angunawela |
| collection | DOAJ |
| description | Desmoplastic small round cell tumour (DSRCT) is an aggressive and a rare neoplasm. We report on a 34-year-old male who had abdominal discomfort with a large intraperitoneal mass. Histological examination of the tumour biopsy revealed sheets of small round cells. The cells were positive with vimentin and desmin (with occasional dot positivity) and negative for WT1 and CD 99 with immunohistochemistry. Cytogenetics showed a translocation disrupting the EWSR 1 gene on 22 q 12 consistent with DSRCT. Electron microscopic examination showed sparse cytoplasmic organelles. The patient succumbed 34 months from disease presentation after multiple chemotherapies and thereafter radiotherapy. In summary, our case exemplifies that it is crucial to combine clinical, histological, and molecular aspects in diagnosing DSRCT especially when characteristic dot positivity with desmin is weak along with deficient marking of WT1 and CD99 by immunohistochemistry. Histology was also less clear than published examples of this entity with a poor desmoplastic response. A multidisciplinary approach including early referral to specialised centres is recommended in these cases as tertiary referral centres will be required to substantiate the diagnosis. |
| format | Article |
| id | doaj-art-0695fb9ec70244669f7e7206a9b612c2 |
| institution | Kabale University |
| issn | 2090-6706 2090-6714 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Oncological Medicine |
| spelling | doaj-art-0695fb9ec70244669f7e7206a9b612c22025-02-03T06:13:06ZengWileyCase Reports in Oncological Medicine2090-67062090-67142011-01-01201110.1155/2011/183938183938An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular StudiesPreethika Angunawela0Alhossain A. Khalafallah1Karen Wolfswinkel2David Seaton3Terry Brain4Pathology Department, Launceston General Hospital, Launceston, TAS 7250, AustraliaPathology Department, Launceston General Hospital, Launceston, TAS 7250, AustraliaPathology Department, Launceston General Hospital, Launceston, TAS 7250, AustraliaPathology Department, Launceston General Hospital, Launceston, TAS 7250, AustraliaPathology Department, Launceston General Hospital, Launceston, TAS 7250, AustraliaDesmoplastic small round cell tumour (DSRCT) is an aggressive and a rare neoplasm. We report on a 34-year-old male who had abdominal discomfort with a large intraperitoneal mass. Histological examination of the tumour biopsy revealed sheets of small round cells. The cells were positive with vimentin and desmin (with occasional dot positivity) and negative for WT1 and CD 99 with immunohistochemistry. Cytogenetics showed a translocation disrupting the EWSR 1 gene on 22 q 12 consistent with DSRCT. Electron microscopic examination showed sparse cytoplasmic organelles. The patient succumbed 34 months from disease presentation after multiple chemotherapies and thereafter radiotherapy. In summary, our case exemplifies that it is crucial to combine clinical, histological, and molecular aspects in diagnosing DSRCT especially when characteristic dot positivity with desmin is weak along with deficient marking of WT1 and CD99 by immunohistochemistry. Histology was also less clear than published examples of this entity with a poor desmoplastic response. A multidisciplinary approach including early referral to specialised centres is recommended in these cases as tertiary referral centres will be required to substantiate the diagnosis.http://dx.doi.org/10.1155/2011/183938 |
| spellingShingle | Preethika Angunawela Alhossain A. Khalafallah Karen Wolfswinkel David Seaton Terry Brain An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular Studies Case Reports in Oncological Medicine |
| title | An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular Studies |
| title_full | An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular Studies |
| title_fullStr | An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular Studies |
| title_full_unstemmed | An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular Studies |
| title_short | An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular Studies |
| title_sort | unusual presentation of desmoplastic small round cell tumour of the abdomen morphological immunohistochemical ultrastructural and molecular studies |
| url | http://dx.doi.org/10.1155/2011/183938 |
| work_keys_str_mv | AT preethikaangunawela anunusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT alhossainakhalafallah anunusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT karenwolfswinkel anunusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT davidseaton anunusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT terrybrain anunusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT preethikaangunawela unusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT alhossainakhalafallah unusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT karenwolfswinkel unusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT davidseaton unusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies AT terrybrain unusualpresentationofdesmoplasticsmallroundcelltumouroftheabdomenmorphologicalimmunohistochemicalultrastructuralandmolecularstudies |