Challenging dedifferentiated liposarcoma identified by MDM2-amplification, a report of two cases

BMC Clinical Pathology

Hans-Ulrich Schildhaus³  Josef Rüschoff⁴  Rudolf Hesterberg¹  Katja Schmitz³  Sebastian Dango²  Andreas H Scheel³  Suvi Lokka⁴ 

[1] Rotes Kreuz Krankenhaus, Department of Surgery, Hansteinstrasse 29, 34121 Kassel, Germany;Department of General, Visceral, and Paediatric Surgery, University Medical Centre Göttingen, Robert-Koch-Str. 38, 37077 Göttingen, Germany;Department of Pathology, University Medical Centre Göttingen, Robert-Koch-Str. 38, 37077 Göttingen, Germany;Institute of Pathology Nordhessen, Germaniastr. 7, 34119 Kassel, Germany

关键词: Fluorescence in situ hybridisation;    MDM2;    Liposarcoma with osteoblastic component;    Dedifferentiated Liposarcoma;   

Others  :  1084535
DOI  :  10.1186/1472-6890-14-36

 received in 2014-02-07, accepted in 2014-07-16,  发布年份 2014

【 摘 要 】

Background

Liposarcoma is the most frequent soft tissue sarcoma. Well differentiated liposarcoma may progress into dedifferentiated liposarcoma with pleomorphic histology. A minority additionally features myogenic, osteo- or chondrosarcomatous heterologous differentiation. Genomic amplification of the Mouse double minute 2 homolog (MDM2) locus is characteristic for well differentiated and dedifferentiated liposarcomas. Detection of MDM2 amplification may supplement histopathology and aid to distinguish liposarcoma from other soft tissue neoplasia.

Case presentation

Here we present two cases of dedifferentiated liposarcoma with challenging presentation. Case 1 features a myogenic component. As the tumour infiltrated the abdominal muscles and showed immunohistochemical expression of myogenic proteins, rhabdomyosarcoma had to be ruled out. Case 2 has an osteosarcomatous component resembling extraosseous osteosarcoma. The MDM2 status was determined in both cases and helped making the correct diagnosis. Overexpression of MDM2 and co-overexpression of Cyclin-dependent kinase 4 is demonstrated by immunohistochemistry. The underlying MDM2 amplification is shown by fluorescence in situ hybridisation. Since low grade osteosarcoma may also harbour MDM2 amplification it is emphasised that the amplification has to be present in the lipomatous parts of the tumour to distinguish liposarcoma from extraosseous osteosarcoma.

Conclusions

The two cases exemplify challenges in the diagnoses of dedifferentiated liposarcoma. Liposarcoma often has pleomorphic histology and additionally may feature heterologous components that mimic other soft tissue neoplasms. Amplification of MDM2 is characteristic for well differentiated and dedifferentiated liposarcomas. Determination of the MDM2 status by in situ hybridisation may assist histopathology and help to rule out differential diagnoses.

【 授权许可】

   
2014 Lokka et al.; licensee BioMed Central Ltd.

【 图 表 】

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