Epithelioid Hemangioendothelioma: clinicopathologic, immunhistochemical, and molecular genetic analysis of 39 cases

Diagnostic Pathology

Thomas Mentzel⁵  Patricia JTA Groenen⁴  Gabriele Palmedo⁵  Johannes Bras²  Albert JH Suurmeijer³  Monique M van Asseldonk⁴  Marian AJ Verdijk⁴  Clement J Huysentruyt¹  Anya N Milne⁶  Joost M van Gorp⁶  Robert G Riedl⁷  David H Creytens⁹  Nicolas de Saint Aubain Somerhausen⁸  Rob JC Vogels⁴  Uta Flucke⁴ 

[1] Laboratory of Pathological Anatomy and Medical Microbiology (PAMM), Eindhoven, The Netherlands;Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands;Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;Department of Pathology, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands;Dermatopathology Bodensee, Friedrichshafen, Germany;Department of Pathology, Diakonessenhuis Utrecht, Utrecht, The Netherlands;Department of Pathology, Maastricht University Medical Center, Maastricht, The Netherlands;Jules Bordet Institute, Brussels, Belgium;Department of Pathology, Ghent University Hospital, Ghent, Belgium

关键词: Liver;    Lung;    Skin;    Bone;    Soft tissue;    Vascular tumors;    Epithelioid hemangioendothelioma;   

Others  :  870292
DOI  :  10.1186/1746-1596-9-131

 received in 2014-04-04, accepted in 2014-06-22,  发布年份 2014

【 摘 要 】

Background

Epithelioid hemangioendothelioma is a malignant, often indolent vascular tumor which occurs at various anatomic sites. Based on a reciprocal translocation t (1;3)(p36;q25), a consistent WWTR1-CAMTA1 fusion gene has been found. An alternate YAP1-TFE3 fusion has been detected in a small and distinct subset of cases.

Methods

Thirty-nine tumors, from 24 females and 15 males with an age range 9–85 years, were located in soft tissue (head and neck [8], trunk [5], upper extremities [3], lower extremities [2], mediastinal [1], and paratesticular [1]), lymph node (1), breast (1), skin (2), bone (6), lung (7), and liver (2). The cases were investigated using a panel of immunohistochemical markers. The aforementioned fusion-genes were examined using RT-PCR and/or FISH in order to validate their diagnostic value.

Results

Follow-up available for 17 patients ranged from 3 months to 7 years (median interval 1.5 years). Eleven patients were alive without disease, 2 patients were alive with disease after 1.5 and 2 years, respectively. Four patients died of disease after 4 months (n = 1), 5 months (n = 2), and 1.5 years (n = 1).

The size, known for 30 lesions, was >3 cm in 9 of them. Histologically, all lesions had classical features, at least focally. Four tumors counted >3 mitoses/50 HPF.

Immunohistochemically, all cases tested stained positive for ERG (21), FLI1 (5) and CD31 (39). CD34 and D2-40 positivity was seen in 81% and 71% of the examined cases, respectively. 11/35 cases expressed pan-keratin and 6/20 cases CK8.18. TFE3 showed a nuclear reaction in 21/24 cases, irrespective of TFE3 rearrangement.

Molecular genetically, 35/35 cases revealed one of the fusion genes by FISH and/or RT-PCR with WWTR1-CAMTA1 in 33 cases and YAP1-TFE3 in 2 cases.

Conclusions

These results demonstrate the high diagnostic value of FISH and RT-PCR in detecting the fusion genes of EHE. The immunohistochemical utility of TFE3 appears questionable in this study.

【 授权许可】

   
2014 Flucke et al.; licensee BioMed Central Ltd.

【 图 表 】

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