ORIGINAL ARTICLE

Ewing family of tumours involving the vulva and vagina: report of a series of four cases

W Glenn McCluggage¹, Vaiyapuri P Sumathi², Marisa R Nucci³, Michelle Hirsch³, Paola Dal Cin³, Michael Wells⁴, Adrienne M Flanagan⁵ and Cyril Fisher⁶

¹ Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland
² Department of Musculoskeletal Pathology, The Royal Orthopaedic Hospital NHS Trust, Birmingham, UK
³ Department of Pathology, Brigham and Women’s Hospital and Harvard Medical School, Boston, USA
⁴ Department of Pathology, Sheffield University Medical School, Sheffield, England
⁵ Institute of Orthopaedics and Musculoskeletal Sciences, Stanmore, Middlesex, UK
⁶ Department of Pathology, Royal Marsden Hospital, London, UK

Correspondence to:
Correspondence to:
Professor W G McCluggage
Department of Pathology, Royal Group of Hospitals Trust, Grosvenor Road, Belfast BT12 6BL, Northern Ireland; glenn.mccluggage{at}bll.n-i.nhs.uk

Background: Ewing’s sarcoma and peripheral primitive neuroectodermal tumour (pPNET) are now regarded as two morphological ends of a spectrum of neoplasms, characterised by a t(11;22) or other related chromosomal translocation involving the EWS gene on chromosome 22 and referred to as Ewing family of tumours (EFTs). EFTs are extremely rare in the vulva and vagina, a review of the literature revealing only 13 previously reported possible cases, most of which have not had molecular confirmation. In this study, four new cases of EFTs involving the vulva (three cases) or vagina (one case) are reported.

Results: The tumours occurred in women aged 19, 20, 30 and 40 years and ranged in size from 3 to 8 cm. Morphologically, all neoplasms had a lobulated architecture and were composed of solid aggregates of cells. In one case, occasional rosettes were formed. In all the tumours, there was diffuse membranous staining with CD99; nuclear positivity with FLI-1 was present in two cases. Three cases were focally positive with the broad-spectrum cytokeratin AE1/3, all were diffusely positive with vimentin and all were desmin negative. In two cases, a t(11;22) (q24;q12) (EWSR1-FLI-1) chromosomal translocation was demonstrated by reverse transcriptase-PCR (one case) and fluorescence in situ hybridisation (FISH) (one case), and in another case a rearrangement of the EWSR1 gene on chromosome 22 was demonstrated by FISH. In the other case, a variety of molecular studies did not reveal a translocation involving the EWS gene but this tumour, on the balance of probability, is still considered to represent a neoplasm in the EFTs. Follow-up in two cases revealed that one patient developed pulmonary metastasis and died and another is alive without disease at 12 months.

Conclusions: This report expands the published literature regarding EFTs involving the vulva and vagina and stresses the importance of molecular techniques in firmly establishing the diagnosis, especially when these neoplasms arise at unusual sites.

Abbreviations: EFTs, Ewing family of tumours; FISH, fluorescence in situ hybridisation; PNET, primitive neuroectodermal tumour; pPNET, peripheral PNET; RT-PCR, reverse transcriptase-PCR

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