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Right ventricular undifferentiated pleomorphic sarcoma: A case report.

ABSTRACT: Undifferentiated pleomorphic sarcoma (UPS), previously known as malignant fibrous histiocytoma, is a neoplasm that occurs most often in the extremities, trunk, and retroperitoneum. Rarely, UPS can occur in the cardiac chambers and great vessels. The diagnosis of UPS is difficult to establish with noninvasive imaging techniques, and these tumors may be mistaken for benign neoplasms preoperatively. Surgical excision is the standard therapy, although the extent and location of the tumor may limit the ability to perform a complete resection. Adjuvant chemotherapy and/or radiation are often used for incomplete resections. We report the case of a 57-year-old woman with a large right ventricular UPS who presented with signs of right-sided heart failure. Preoperative imaging was suggestive of a myxoma; however, histopathologic evaluation of the specimen confirmed a diagnosis of UPS. Microscopic margins of the specimen were positive, and adjuvant chemotherapy was given. We discuss diagnostic and treatment considerations for this unusual cardiac tumor. .

SUBMITTER: Beller JP

PROVIDER: S-EPMC6262133 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Right ventricular undifferentiated pleomorphic sarcoma: A case report.

Beller Jared P JP Maddalo Scott S Zamuco Ronaldo R Axel Leon L DeAnda Abe A Balsam Leora B LB

Journal of cardiology cases 20151126 2

Undifferentiated pleomorphic sarcoma (UPS), previously known as malignant fibrous histiocytoma, is a neoplasm that occurs most often in the extremities, trunk, and retroperitoneum. Rarely, UPS can occur in the cardiac chambers and great vessels. The diagnosis of UPS is difficult to establish with noninvasive imaging techniques, and these tumors may be mistaken for benign neoplasms preoperatively. Surgical excision is the standard therapy, although the extent and location of the tumor may limit t ...[more]

PMID: 30524557

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Project description:BackgroundUndifferentiated pleomorphic sarcoma (UPS) is a malignant soft tissue tumor that has been reclassified from malignant fibrous histiocytoma with the development of the pathological diagnosis. It principally occurs in the extremities but rarely occurs in the rectum. We herein report a rare case of UPS arising in the rectum.Case presentationA 85-year-old woman was referred to our hospital with a complaint of anal pain, which had persisted for several months. Computed tomography (CT) showed a 53 × 58 × 75 mm mass on the left side of the rectum. Colonoscopy revealed a submucosal elevation in the rectum without any exposure of the tumor to the surface. Contrast-enhanced CT and magnetic resonance imaging revealed an 80-mm mass that originated in the rectal muscular propria, and we suspected a gastrointestinal stromal tumor. No lymph node metastasis or distant metastasis was observed. We performed a laparoscopic Hartmann's operation. Intraoperatively, severe adhesion around the tumor caused tumor injury and right ureteral dissection. Thus, laparoscopic right ureteral anastomosis and ureteral stenting were additionally performed. The operation time was 6 h and 3 min, and the estimated blood loss was small. The patient was discharged without complications 25 days after surgery. A pathological examination showed that the tumor was composed of highly heterogeneous cells with no specific differentiation traits, leading to a diagnosis of UPS. Contrast-enhanced CT performed 2 months after surgery showed bilateral pelvic lymph node enlargement, which indicated recurrence. Considering the patient's age, we performed radiotherapy (50 Gy/25 Fr targeting the pelvic region). At present, 16 months have passed since the completion of radiotherapy. Contrast-enhanced CT shows that the recurrent lymph nodes have disappeared, and no new distant metastasis has been observed.ConclusionsWe reported a case of UPS arising in the rectum. The surgical procedure and indication of preoperative therapy should be carefully selected because complete removal of the tumor is desirable in UPS.

Project description:Undifferentiated pleomorphic sarcoma of bone (UPSb) is a rare primary bone sarcoma that lacks a specific line of differentiation. There is very little information about the genetic alterations leading to tumourigenesis or malignant transformation. Distinguishing between UPSb and other malignant bone sarcomas, including dedifferentiated chondrosarcoma and osteosarcoma, can be challenging due to overlapping features. To explore the genomic and transcriptomic landscape of UPSb tumours, whole-exome sequencing (WES) and RNA sequencing (RNA-Seq) were performed on UPSb tumours. All tumours lacked hotspot mutations in IDH1/2 132 or 172 codons, thereby excluding the diagnosis of dedifferentiated chondrosarcoma. Recurrent somatic mutations in TP53 were identified in four of 14 samples (29%). Moreover, recurrent mutations in histone chromatin remodelling genes, including H3F3A, ATRX and DOT1L, were identified in five of 14 samples (36%), highlighting the potential role of deregulated chromatin remodelling pathways in UPSb tumourigenesis. The majority of recurrent mutations in chromatin remodelling genes identified here are reported in COSMIC, including the H3F3A G34 and K36 hotspot residues. Copy number alteration analysis identified gains and losses in genes that have been previously altered in UPSb or UPS of soft tissue. Eight somatic gene fusions were identified by RNA-Seq, two of which, CLTC-VMP1 and FARP1-STK24, were reported previously in multiple cancers. Five gene fusions were genomically characterised. Hierarchical clustering analysis, using RNA-Seq data, distinctly clustered UPSb tumours from osteosarcoma and other sarcomas, thus molecularly distinguishing UPSb from other sarcomas. RNA-Seq expression profiling analysis and quantitative reverse transcription-polymerase chain reaction showed an elevated expression in FGF23, which can be a potential molecular biomarker for UPSb. To our knowledge, this study represents the first comprehensive WES and RNA-Seq analysis of UPSb tumours revealing novel protein-coding recurrent gene mutations, gene fusions and identifying a potential UPSb molecular biomarker, thereby broadening the understanding of the pathogenic mechanisms and highlighting the possibility of developing novel targeted therapeutics. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Dataset Information

Right ventricular undifferentiated pleomorphic sarcoma: A case report.

Publications

Right ventricular undifferentiated pleomorphic sarcoma: A case report.

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