Dataset Information

Laparoscopically-Assisted Repair of a Small Bowel Perforation Secondary to Multiple Metastases of Undifferentiated Pleomorphic Sarcoma.

ABSTRACT: We present a very rare case of a laparoscopically-assisted repair of a small bowel perforation secondary to multiple metastases of undifferentiated pleomorphic sarcoma from the posterior mediastinum. A 46-year-old man presented with middle to upper abdominal pain during chemotherapy for lung metastases from undifferentiated pleomorphic sarcoma. Computed tomography revealed intra-abdominal free air, and emergency laparoscopy was performed. Consequently, a perforation was detected in the jejunum, and partial jejunal resection was performed by mini-laparotomy. Pathological examination demonstrated an ulcerated tumor with perforation and four additional tumors in the resected jejunum. Pathological examination also revealed undifferentiated pleomorphic sarcoma in all five tumors. To our knowledge, our case is the first report of a laparoscopically-assisted repair of a small bowel perforation secondary to metastasis of undifferentiated pleomorphic sarcoma. Although the perforation site was unclear preoperatively, laparoscopic observation readily identified the lesion in this patient. Therefore, minimally invasive surgery could be performed successfully with mini-laparotomy following laparoscopic observation. Laparoscopic techniques for the small intestine are viable options, even in acute and uncommon situations, and small bowel perforation secondary to metastasis should be considered in patients with undifferentiated pleomorphic sarcoma and acute abdomen.

SUBMITTER: Morimoto M

PROVIDER: S-EPMC7231876 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Laparoscopically-Assisted Repair of a Small Bowel Perforation Secondary to Multiple Metastases of Undifferentiated Pleomorphic Sarcoma.

Morimoto Masaki M Honjo Soichiro S Sakamoto Teruhisa T Yagyu Takuki T Uchinaka Ei E Hanaki Takehiko T Watanabe Joji J Matsunaga Tomoyuki T Yamamoto Manabu M Fukumoto Yoji Y Tokuyasu Naruo N Fujiwara Yoshiyuki Y

Yonago acta medica 20200318 2

We present a very rare case of a laparoscopically-assisted repair of a small bowel perforation secondary to multiple metastases of undifferentiated pleomorphic sarcoma from the posterior mediastinum. A 46-year-old man presented with middle to upper abdominal pain during chemotherapy for lung metastases from undifferentiated pleomorphic sarcoma. Computed tomography revealed intra-abdominal free air, and emergency laparoscopy was performed. Consequently, a perforation was detected in the jejunum, ...[more]

PMID: 32494218

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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

Laparoscopically-Assisted Repair of a Small Bowel Perforation Secondary to Multiple Metastases of Undifferentiated Pleomorphic Sarcoma.

Publications

Laparoscopically-Assisted Repair of a Small Bowel Perforation Secondary to Multiple Metastases of Undifferentiated Pleomorphic Sarcoma.

Similar Datasets

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