High-Dose Chemotherapy with Stem Cell Rescue in Desmoplastic Small Round Cell Tumor: A Single-Institution Experience and Review of the Literature.

Kayleen Bailey,Michael Roth,Jonathan Gill,Daniel Weiser

doi:10.1155/2018/1948093

Abstract

Purpose Desmoplastic small round cell tumor (DSRCT) is a rare cancer that predominantly affects males averaging 21 years of age at the time of diagnosis. We describe four cases from our institution and place them within the context of a comprehensive review of the literature. Patients and Methods Study population included any patient who received treatment at Children's Hospital at Montefiore (CHAM) with histologic diagnosis of DSRCT. A search of the electronic databases PubMed, Cochrane Central Register of Controlled Trials, MEDLINE, and EMBASE for the terms “desmoplastic” AND “small” AND “round” AND “cell” AND “tumor” was performed. Results One CHAM patient died of disease at 39 months, one patient has relapsed disease at 40 months, and two patients have no evidence of disease at 60 and 91 months. In the literature review, the 3-year OS was 36% and 5-year OS was 13%. There was a statistically significant difference in OS between no transplant and SCT in remission (p=0.004); however, there was no difference between no transplant and SCT not in remission (p=0.23). Conclusion Given the poor prognosis in DSRCT, this study supports further prospective research into the possible benefit of consolidation of autologous SCT in patients with DSRCT who are in remission, with the alternative inference that these patients in remission may fare well without SCT. Our retrospective review of the literature does not support SCT for patients who are not in remission.

Highlights

Desmoplastic small round cell tumor (DSRCT) is a rare cancer which predominantly affects males averaging 21 years of age at the time of diagnosis [1]
DSRCT is characterized by the fusion of the Wilms tumor (WT1) gene and the Ewing sarcoma (EWS) gene to form the t(11;22)(p13;q12) fusion, resulting in the upregulation of growth factors on the EWS gene and loss of tumor suppressor function of WT1 [5]. e EWS/WT1 fusion gene can be identified utilizing polymerase chain reaction (PCR) or fluorescent in situ hybridization (FISH), which proves especially helpful in diagnosing extra-abdominal tumors [6]
Our review of over 250 patients in the literature with DSRCT demonstrates that treatment with Stem cell transplant Children’s Hospital at Montefiore (CHAM) (SCT) in remission, complete surgical resection, and radiation had statistically significantly improved OS at 3 and 5 years, compared to the patients who were not in remission at the time of SCT, incomplete or no surgical resection, and no radiation, respectively. e results of this study postulate that more aggressive multimodal treatment that achieves remission, followed by SCT, could result in improved long-term outcomes for these patients

Summary

Introduction

Desmoplastic small round cell tumor (DSRCT) is a rare cancer which predominantly affects males averaging 21 years of age at the time of diagnosis [1]. Depending on the size of the tumor, patients can present with a range of symptoms: nausea, emesis, abdominal pain or distention, constipation, bowel obstruction, and acute renal failure. DSRCT has been described histologically as clusters of small round blue cells with polyphenotypic differentiation within a desmoplastic framework [4]. Because it contains epithelial, neural, and mesenchymal features, the tumor stains positive for desmin, keratin, vimentin, and epithelial membrane antigen. DSRCT is characterized by the fusion of the Wilms tumor (WT1) gene and the Ewing sarcoma (EWS) gene to form the t(11;22)(p13;q12) fusion, resulting in the upregulation of growth factors on the EWS gene and loss of tumor suppressor function of WT1 [5]. e EWS/WT1 fusion gene can be identified utilizing polymerase chain reaction (PCR) or fluorescent in situ hybridization (FISH), which proves especially helpful in diagnosing extra-abdominal tumors (that have been previously identified in pleural, intrathoracic, posterior cranial fossa, soft tissue, bones, ovarian, and sinonasal spaces) [6]

Methods

Results

Conclusion