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Rare myxoid pleomorphic liposarcoma: a case report and literature review
  1. Yanying Shen1,
  2. Ling Zhao1,
  3. Anqi Li2,
  4. Qi Peng1,
  5. Qiang Liu1,
  6. Lisha Wang3,
  7. Zebing Liu4
  1. 1 Department of Pathology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
  2. 2 Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
  3. 3 Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA
  4. 4 Department of Pathology, Shanghai Jiao Tong University School of Medicine, Shanghai, China
  1. Correspondence to Dr Zebing Liu, Department of Pathology, Shanghai Jiao Tong University School of Medicine, Shanghai, China; zebing080{at}163.com

Abstract

We report a case of a middle-aged woman with a rapidly growing abdominal mass that was diagnosed as myxoid pleomorphic liposarcoma, a recently recognised, rare and aggressive subtype of liposarcoma. The tumour exhibits a combination of histological features from both myxoid liposarcoma and pleomorphic liposarcoma. Genetic analysis revealed mutations in TP53 and RB1, along with widespread loss of heterozygosity. However, no DDIT3 gene translocation or MDM2/CDK4 gene amplification was detected. These genetic characteristics can be used to distinguish this type of liposarcoma from others. Two unusual gene fusion/rearrangements, CREB5::TERT fusion and ETV1::LFNG rearrangement, were identified. The patient underwent complete removal of the tumour without the use of radiotherapy or chemotherapy. No recurrence was observed during the follow-up period of 18 months.

  • Sarcoma
  • Soft Tissue Neoplasms
  • Genes, Neoplasm

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Footnotes

  • LW and ZL are joint senior authors.

  • Handling editor David Creytens.

  • X @lishawang9

  • Contributors YS conducted literature search, data collection, and analysis and drafted the manuscript. LZ and AL provided with molecular service (including FISH and NGS detections) and contributed to drafting the manuscript. QP conducted bioinformatical analysis. QL assisted in pathology analysis and in drafting the manuscript. LW and ZL performed the pathological analysis and drafted the manuscript. All authors have read and approved the final manuscript.

  • Funding Supported by the National Nature Science Foundation of China (820702070, 82002543).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.