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Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature
Patient: Male, 9-year-old Final Diagnosis: Desmoplastic small round cell tumor • pancreatic cancer Symptoms: Abdominal pain Medication:— Clinical Procedure: — Specialty: Pathology OBJECTIVE: Rare disease BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare lethal malignant tumor with yo...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7377525/ https://www.ncbi.nlm.nih.gov/pubmed/32655125 http://dx.doi.org/10.12659/AJCR.922762 |
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author | Saleh, Daniyah Al-Maghrabi, Sahar Al-Maghrabi, Haneen Al-Maghrabi, Jaudah |
author_facet | Saleh, Daniyah Al-Maghrabi, Sahar Al-Maghrabi, Haneen Al-Maghrabi, Jaudah |
author_sort | Saleh, Daniyah |
collection | PubMed |
description | Patient: Male, 9-year-old Final Diagnosis: Desmoplastic small round cell tumor • pancreatic cancer Symptoms: Abdominal pain Medication:— Clinical Procedure: — Specialty: Pathology OBJECTIVE: Rare disease BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare lethal malignant tumor with young male predominance. The majority of cases arise in the abdominopelvic region and are hypothesized to have a mesothelial origin. However, extra-abdominal and extraperitoneal DSRCT have been reported. It is extremely uncommon for the pancreas to be a primary site for DSRCT, and only 5 cases have previously been reported in the English literature. Clinically, DSRCT has a wide range of presentations from asymptomatic to life-threatening comorbidity, and it responds poorly to treatment despite aggressive therapy. CASE REPORT: We report a previously healthy 9-year-old boy with an incidentally discovered abdominal mass of pancreatic origin. All necessary laboratory investigations were within normal limits. Computed tomographic imaging showed a huge left-side retroperitoneal mass measuring 15 cm in the greatest dimension that was accompanied by vascular encasement. The mass was resected successfully. Histopathological examination along with ancillary tests favored a diagnosis of DSRCT over other small round blue cell tumors. Detection of translocation t(11;22)(p13;q12) with EWSR1-WT1 gene fusion, based on reverse transcription-polymerase chain reaction analysis, confirmed the diagnosis. Approximately 7 months later, the tumor recurred with mesenteric lymph nodes metastasis and the child was placed on palliative therapy. CONCLUSIONS: It is worthwhile to consider DSRCT in the differential diagnosis of small round blue cell tumors, even in unusual sites, in a pediatric age group. Due to the poor prognosis, owing to chemotherapy resistance and a high rate of recurrence with significant tumor burden, reaching a precise diagnosis of DSRCT is essential. Almost all cases harbor the hallmark molecular alteration of t(11;22)(p13;q12) with EWSR1-WT1 gene fusion. Debulking surgery paired with a chemotherapy regimen comprising vincristine, doxorubicin, and cyclophosphamide and ifosfamide + etoposide has been shown to improve overall survival rate compared with other chemotherapeutic agents. However, no targeted therapeutic modality has been developed. |
format | Online Article Text |
id | pubmed-7377525 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-73775252020-08-05 Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature Saleh, Daniyah Al-Maghrabi, Sahar Al-Maghrabi, Haneen Al-Maghrabi, Jaudah Am J Case Rep Articles Patient: Male, 9-year-old Final Diagnosis: Desmoplastic small round cell tumor • pancreatic cancer Symptoms: Abdominal pain Medication:— Clinical Procedure: — Specialty: Pathology OBJECTIVE: Rare disease BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare lethal malignant tumor with young male predominance. The majority of cases arise in the abdominopelvic region and are hypothesized to have a mesothelial origin. However, extra-abdominal and extraperitoneal DSRCT have been reported. It is extremely uncommon for the pancreas to be a primary site for DSRCT, and only 5 cases have previously been reported in the English literature. Clinically, DSRCT has a wide range of presentations from asymptomatic to life-threatening comorbidity, and it responds poorly to treatment despite aggressive therapy. CASE REPORT: We report a previously healthy 9-year-old boy with an incidentally discovered abdominal mass of pancreatic origin. All necessary laboratory investigations were within normal limits. Computed tomographic imaging showed a huge left-side retroperitoneal mass measuring 15 cm in the greatest dimension that was accompanied by vascular encasement. The mass was resected successfully. Histopathological examination along with ancillary tests favored a diagnosis of DSRCT over other small round blue cell tumors. Detection of translocation t(11;22)(p13;q12) with EWSR1-WT1 gene fusion, based on reverse transcription-polymerase chain reaction analysis, confirmed the diagnosis. Approximately 7 months later, the tumor recurred with mesenteric lymph nodes metastasis and the child was placed on palliative therapy. CONCLUSIONS: It is worthwhile to consider DSRCT in the differential diagnosis of small round blue cell tumors, even in unusual sites, in a pediatric age group. Due to the poor prognosis, owing to chemotherapy resistance and a high rate of recurrence with significant tumor burden, reaching a precise diagnosis of DSRCT is essential. Almost all cases harbor the hallmark molecular alteration of t(11;22)(p13;q12) with EWSR1-WT1 gene fusion. Debulking surgery paired with a chemotherapy regimen comprising vincristine, doxorubicin, and cyclophosphamide and ifosfamide + etoposide has been shown to improve overall survival rate compared with other chemotherapeutic agents. However, no targeted therapeutic modality has been developed. International Scientific Literature, Inc. 2020-07-13 /pmc/articles/PMC7377525/ /pubmed/32655125 http://dx.doi.org/10.12659/AJCR.922762 Text en © Am J Case Rep, 2020 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) |
spellingShingle | Articles Saleh, Daniyah Al-Maghrabi, Sahar Al-Maghrabi, Haneen Al-Maghrabi, Jaudah Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature |
title | Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature |
title_full | Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature |
title_fullStr | Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature |
title_full_unstemmed | Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature |
title_short | Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature |
title_sort | desmoplastic small round cell tumor of pancreatic origin in a young child: a case report and review of literature |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7377525/ https://www.ncbi.nlm.nih.gov/pubmed/32655125 http://dx.doi.org/10.12659/AJCR.922762 |
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