Diffuse Intraabdominal Desmoplastic Small Round Cell Tumor: A Ten-Year Experience

Abstract

Background: Intraabdominal desmoplastic small round cell tumors (IDSRCT) are rare in children and predominantly affect male adolescents and young adults. We present our experience in the management of five children with diffuse IDSRCT, managed with aggressive chemotherapy, surgery, radiotherapy and peripheral blood stem cell transplantation. Material and Methods: During the last decade five patients, four males and one female (mean age 9.6 years), with diffuse IDSRCT were managed in our department. The main symptoms were abdominal distention, vague abdominal pain, and vomiting. Three patients with inoperable tumor on admission were submitted initially to open biopsy followed by aggressive chemotherapy. Regression of the tumor was followed by a second laparotomy and radical excision of any macroscopically distinguishable masses, followed by chemotherapy. In the remaining two patients a debulking procedure was done initially, followed by chemotherapy. The accurate diagnosis of the disease was established by immunohistochemistry, additionally confirmed in the last two patients by molecular analysis. Results: Three patients who had radical excision of the tumor and adjuvant chemotherapy had recurrence after two to six months. In the remaining two patients, recurrence was evident after two and eighteen months, respectively, following debulking. In addition, one patient with recurrence received radiotherapy and two others underwent peripheral blood stem cell transplantation. All but one patient died within three years from diagnosis. The last patient, who was submitted to a debulking procedure, is still alive eight months after the operation. Conclusions: Intrabdominal desmoplastic small round cell tumor is a highly aggressive malignancy with a very poor prognosis. Multiagent chemotherapy usually leads initially to a temporary regression of the tumor, but recurrence is the rule. Radical surgical excision, radiotherapy and peripheral blood stem cell transplantation does not seem to improve prognosis significantly. Despite all therapeutic modalities the outcome is dismal and surgical efforts can be considered only as palliative.

Key words

Desmoplastic small round cell tumor - childhood

References

• 1 Ariffin H, Ariffin W A, Wong K T, Ramanujam T M, Lin H P. Intraabdominal desmoplastic small round cell in an 11-year-old boy.  Singapore Med J. 1997;  38 169-171
• 2 Baltogiannis N, Mavridis G, Keramidas D. Intraabdominal desmoplastic small round cell tumor: report of two cases in paediatric population.  Eur J Pediatr Surg. 2002;  12 333-336
• 3 Bellah R, Suzuki-Bordalo L, Brecher E. et al . Desmoplastic small round cell tumor in the abdomen and pelvis: report of CT findings in 11 affected children and young adults.  Am J Roentgenol. 2005;  184 1910-1914
• 4 Bisogno G, Rovganovich J, Sotti G, Ninfo V, di Montezemolo L G, Donfrancesco A, Mascarin M, Carli M. Desmoplastic small round cell tumor in children and adolescents.  Med Pediatr Oncol. 2000;  34 338-342
• 5 Chang F. Desmoplastic small round cell tumors: cytologic, histologic and immunohistochemical features.  Arch Pathol Lab Med. 2006;  130 728-732
• 6 Crombleholme T M, Harris B H, Jacir N N, Latchaw L A, Kretschmar C S, Rosenfield C G, Wolfe L C, Cendron M, Trask C, Wolfe H J. The desmoplastic round cell tumor: a new solid tumor of childhood.  J Pediatr Surg. 1993;  28 1023-1025
• 7 Cummings O W, Ulbright T M, Young R H, Dei Tos A P, Fletcher C DM, Hull M T. Desmoplastic small round cell tumors of the paratesticular region. A report of six cases.  Am J Surg Pathol. 1997;  21 219-225
• 8 Frappaz D, Bouffet E, Dolbeau D, Bouvier R, Carrie C, Louis D, Pondarre C, Tabone E, Philip T, Brunat-Mentigny M. Desmoplastic small round cell tumors of the abdomen.  Cancer. 1994;  73 1753-1756
• 9 Gerald W L, Haber D A. The EWS‐WT1 gene fusion in desmoplastic small round cell tumor.  Semin Cancer Biol. 2005;  15 197-205
• 10 Gerald W L, Ladanyi M, Alava A, Cuatrecasas M, Kushner B H, LaQuaglia M P, Rosai J. Clinical, pathologic and molecular spectrum of tumors associated with t(11; 22)(p 13;q12): desmoplastic small round-cell tumor and its variants.  J Clin Oncol. 1998;  16 3028-3036
• 11 Gerald W L, Miller H K, Battifora H, Miettinen M, Silva E G, Rosai J. Intra-abdominal desmoplastic small round-cell tumor. Report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals.  Am J Surg Pathol. 1991;  15 499-513
• 12 Gerald W L, Rosai J. Desmoplastic small cell tumor with divergent differentiation.  Pediatr Pathol. 1989;  9 177-183
• 13 Goodman K A, Wolden S L, La Quaglia M P, Kushner B H. Whole abdominopelvic radiotherapy for desmoplastic small round-cell tumor.  Int J Radiat Oncol Biol Phys. 2002;  54 170-176
• 14 Hill D A, Pfeifez J D, Marley E F. et al . WT1 staining reliably differentiates desmoplastic small round cell tumor from Ewing sarcoma/primitive neuroectodermal tumor. An immunohistochemical and molecular diagnostic study.  Am J Clin Pathology. 2000;  114 345-353
• 15 Lal D R, Su W T, Wolden S L, Loh K C, Modak S, La Quaglia M P. Results of multimodal treatment for desmoplastic small round cell tumors.  J Pediatr Surg. 2005;  40 251-255 255
• 16 Liang W Y, Chen W Y, Tsay S H, Chiang H. Desmoplastic small round cell tumor - report of 3 cases and review of the literature.  Kaohsiung J Med Sci. 2000;  16 261-265
• 17 Liu J, Nau M M, Yeh J C, Allegra C J, Chu E, Wright J J. Molecular heterogenity and function of EWS‐WT1 fusion transcripts in desmoplastic small round cell tumors.  Clin Cancer Res. 2000;  6 3522-3529
• 18 Mingo L, Seguel F, Rollan V. Intraabdominal desmoplastic small round cell tumor.  Pediatr Surg Int. 2005;  21 279-281
• 19 Murray J C, Minifee P K, Trautwein L M, Hicks M J, Langston C, Morad A B. Intraabdominal desmoplastic small round cell tumor presenting as a gastric mural mass with hepatic metastases.  J Pediatr Hematol Oncol. 1996;  18 289-292
• 20 Ordi J, Alava E, Torne A, Mellado B, Pardo-Mindan J, Iglesias X, Cardesa A. Intraabdominal small round cell tumor with EWS/ERG fusion transcript.  Am J Surg Pathol. 1998;  22 1026-1032
• 21 Ordonez N G. Desmoplastic small round cell tumor. I: a histopathologic study of 39 cases with emphasis on unusual histological patterns.  Am J Surg Pathol. 1998;  22 1303-1313
• 22 Parkash V, Gerald W L, Parma A. Desmoplastic small round cell tumor of the pleura.  Am J Surg Pathol. 1995;  19 659-665
• 23 Rachfal A W, Luquette M H, Brigstock D R. Expression of connective tissue growth factor (CCN2) I desmoplastic small round cell tumor.  J Clin Pathol. 2004;  57 422-425
• 24 Roganovich J, Bisogno G, Cecchetto G, D'Amore E S, Carli M. Paratesticular desmoplastic small round cell tumor: case report and review of the literature.  J Surg Oncol. 1999;  71 269-272
• 25 Schidt B F, Koscielniak E, Pilz T, Treuner J. Radiation therapy in juvenile aggressive fibromatosis.  Klin Radiatr. 1999;  211 296-299
• 26 Schwarz R E, Gerald W L, Kushner B H, Coit D G, Brennan M F, LaQuaglia M P. Desmoplastic small round cell tumors: prognostic indicators and results of surgical management.  Ann Surg Oncol. 1998;  5 416-422
• 27 Setrakian S, Gupta P K, Heald J, Brooks J J. Intraabdominal desmoplastic small round cell tumor. Report of a case diagnosed by fine needle aspiration cytology.  Acta Cytol. 1992;  36 373-376
• 28 Slomovitz B M, Girotta M, Aledo A, Saqi A, Soslow R A, Spigland N A, Caputo T A. Desmoplastic small round cell tumor with primary ovarian involvement: case report and review.  Gynecol Oncol. 2000;  79 124-128
• 29 Yoshizawa J, Masahiko M, Takao E. et al . A case of intra-abdominal desmoplastic small-round-cell tumor with elevated serum CA125.  Pediatr Surg Int. 2002;  18 238-240