Primary undifferentiated small round cell sarcoma of the deep abdominal wall with a novel variant of t(10;19) CIC-DUX4 gene fusion.

Abstract

We experienced a 38-year-old Japanese male with t(10;19) CIC-DUX4 -positive undifferentiated small round cell sarcoma in the deep abdominal wall. Three months before his first visit to our hospital, he noticed a mass in his right abdominal wall. Computed tomography on admission revealed a solid abdominal tumor 70×53mm in size and multiple small tumors in both lungs. The biopsy of the abdominal tumor revealed undifferentiated small round cell sarcoma, suggestive of Ewing sarcoma. Under the clinical diagnosis of Ewing-like sarcoma of the abdominal wall with multiple lung metastases, several cycles of ICE (ifosfamide, carboplatin and etoposide) therapy were performed. After the chemotherapy, the lung metastases disappeared, while the primary lesion rapidly grew. Additional VDC (vincristine, doxorubicin and cyclophosphamide) therapy was carried out without apparent effect. Although the surgical removal of the primary lesion was done, peritoneal dissemination and a huge metastatic liver tumor appeared thereafter. The patient died of disease progression two months after the surgery. The total clinical course was approximately one year, showing that the tumor was extremely aggressive. The tumor cells of the surgical specimen were positive for CD99, WT1, calretinin, INI1, ERG and Fli1 by immunohistochemistry. Fusion gene analyses using the frozen surgical material revealed negativity for EWSR1-Fli1, EWSR1-ERG and t(4;19) CIC-DUX4 fusions, but positivity for t(10;19) CIC-DUX4 fusion. Thus, we made a final pathological diagnosis of t(10;19) CIC-DUX4-positive undifferentiated small round cell sarcoma. To our knowledge, this is the 13th case of t(10;19) CIC-DUX4 undifferentiated small round cell sarcoma with precise clinicopathological information. Especially in our case, two types of t(10;19) CIC-DUX4 fusion transcripts were observed, both of which are in-frame and novel.

• Authors: Yoshitane Tsukamoto, Hiroyuki Futani, Shinichi Yoshiya, Takahiro Watanabe, Takako Kihara, Shohei Matsuo, Seiichi Hirota
• Journal: Pathology, research and practice (Pathol Res Pract) Vol. 213 Issue 10 Pg. 1315-1321 (Oct 2017) ISSN: 1618-0631 [Electronic] Germany
• PMID: 28645808 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2017 Elsevier GmbH. All rights reserved.

Chemical References

• Biomarkers, Tumor
• CIC-DUX4 fusion protein, human
• Oncogene Proteins, Fusion

Topics

• Abdominal Neoplasms (chemistry, genetics, pathology, therapy)
• Adult
• Biomarkers, Tumor (analysis, genetics)
• Biopsy
• Blotting, Western
• Cell Differentiation
• Chromosomes, Human, Pair 10
• Chromosomes, Human, Pair 19
• Disease Progression
• Fatal Outcome
• Gene Fusion
• Humans
• Immunohistochemistry
• In Situ Hybridization, Fluorescence
• Male
• Oncogene Proteins, Fusion (genetics)
• Reverse Transcriptase Polymerase Chain Reaction
• Sarcoma, Small Cell (chemistry, genetics, secondary, therapy)
• Tomography, X-Ray Computed
• Treatment Outcome