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Primary desmoplastic small round cell tumor of the tibia: PET/CT and MRI presentation of a rare case and review of the literature.

ABSTRACT: Desmoplastic small round cell tumor (DSRCT) was a soft tissue sarcoma of mesenchymal cell origin that typically exhibited a multi-phenotypic pattern of immunohistochemical staining. DSRCT mainly presented in the abdomen sites and primary occurrence in bone was exceptional. In this study, we reported a new case of primary DSRCT of the tibia in a 33-year-old man who had intermittent pain in the left tibia. Radiographs showed transparent lesions in the left upper tibial. MRI revealed a lobular, lytic and ill-identified lesion with adjacent soft tissues swelling of the upper left tibia. CT confirmed notable destruction and wormlike osteolysis of the bone cortex. PET/CT showed a mass of high uptakes, indicating the malignance. He accepted surgical resection with followed multi-agent chemotherapy, containing vincristine, doxorubicin, ifosfamide and etoposide. Clinically and radiologically, the patient did not show any evidence of recurrence or metastasis at 30 months after surgical treatment. Primary osteogenic DSRCT was extremely rare and should be considered in differential diagnosis of bone tumors.

SUBMITTER: Xuesong D

PROVIDER: S-EPMC6911945 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Primary desmoplastic small round cell tumor of the tibia: PET/CT and MRI presentation of a rare case and review of the literature.

Xuesong Du D Hong Guo G Weiguo Zhang Z

Journal of bone oncology 20191203

Desmoplastic small round cell tumor (DSRCT) was a soft tissue sarcoma of mesenchymal cell origin that typically exhibited a multi-phenotypic pattern of immunohistochemical staining. DSRCT mainly presented in the abdomen sites and primary occurrence in bone was exceptional. In this study, we reported a new case of primary DSRCT of the tibia in a 33-year-old man who had intermittent pain in the left tibia. Radiographs showed transparent lesions in the left upper tibial. MRI revealed a lobular, lyt ...[more]

PMID: 31871884

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Project description:BackgroundIntra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare entity (0.2-0.74 cases per million people per year), which predominantly occurs in young men. It may present as an abdominal mass with pain, distention, and constipation. IDSRCT has a very poor prognosis, with 5-year overall survival estimated at 15%-30%. Diagnosis is made with tissue biopsy.Case descriptionWe present a case of a 28-year-old man with a history of schizophrenia and depression who presented to an emergency room (ER) in November 2022 with constipation and pelvic pain. The patient was sent home with a bowel regimen after radiography showed no obstruction. He re-presented for evaluation due to persistent pain. A computerized tomography scan of the abdomen and pelvis (CT A/P) revealed numerous pelvic masses with severe colitis, bilateral moderate hydronephrosis, and metastatic disease in the liver. A colonoscopy showed a mass extending 3 cm from the anus to 10 cm causing a partial obstruction. Biopsy was read as squamous cell carcinoma (SCC). The patient was subsequently admitted to our institution with pelvic pain, nausea, and vomiting. Colorectal surgery performed a colectomy with end-ileostomy due to colonic obstruction. He was evaluated by a medical oncologist, with previous slides requested for review. Initial review was concerning metastatic basaloid SCC with neuroendocrine features and a Ki67 of 70%. Given his recent abdominal surgeries, chemotherapy was delayed until February 2023 when he was started on reduced dose carboplatin and paclitaxel. Tumor specimen was sent for next generation sequencing (NGS) and programmed death-1 ligand 1 (PD-L1) testing. NGS results returned after the first dose of chemotherapy was given and showed a t(11;22) EWSR-WT1 translocation characteristic of desmoplastic small round cell tumor. The patient was supported in the hospital and discharged with oncology follow-up.DiscussionAs seen in this case, pathology review is essential to ensuring correct diagnosis and appropriate treatment plan. This is especially true when the clinical scenario does not match the listed pathology. Additional diagnostics such as NGS are invaluable in establishing correct diagnosis.

Project description:Desmoplastic small round cell tumor (DSRCT) is characterized by the EWSR1-WT1 t(11;22) (p13:q12) translocation. Few additional putative drivers have been identified, and research has suffered from a lack of model systems. Next-generation sequencing (NGS) data from 68 matched tumor-normal samples, whole-genome sequencing data from 10 samples, transcriptomic and affymetrix array data, and a bank of DSRCT patient-derived xenograft (PDX) are presented. EWSR1-WT1 fusions were noted to be simple, balanced events. Recurrent mutations were uncommon, but were noted in TERT (3%), ARID1A (6%), HRAS (5%), and TP53 (3%), and recurrent loss of heterozygosity (LOH) at 11p, 11q, and 16q was identified in 18%, 22%, and 34% of samples, respectively. Comparison of tumor-normal matched versus unmatched analysis suggests overcalling of somatic mutations in prior publications of DSRCT NGS data. Alterations in fibroblast growth factor receptor 4 (FGFR4) were identified in 5 of 68 (7%) of tumor samples, whereas differential overexpression of FGFR4 was confirmed orthogonally using 2 platforms. PDX models harbored the pathognomic EWSR1-WT1 fusion and were highly representative of corresponding tumors. Our analyses confirm DSRCT as a genomically quiet cancer defined by the balanced translocation, t(11;22)(p13:q12), characterized by a paucity of secondary mutations but a significant number of copy number alterations. Against this genomically quiet background, recurrent activating alterations of FGFR4 stood out, and suggest that this receptor tyrosine kinase, also noted to be highly expressed in DSRCT, should be further investigated. Future studies of DSRCT biology and preclinical therapeutic strategies should benefit from the PDX models characterized in this study. IMPLICATIONS: These data describe the general quiescence of the desmoplastic small round cell tumor (DSRCT) genome, present the first available bank of DSRCT model systems, and nominate FGFR4 as a key receptor tyrosine kinase in DSRCT, based on high expression, recurrent amplification, and recurrent activating mutations.

Dataset Information

Primary desmoplastic small round cell tumor of the tibia: PET/CT and MRI presentation of a rare case and review of the literature.

Publications

Primary desmoplastic small round cell tumor of the tibia: PET/CT and MRI presentation of a rare case and review of the literature.

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