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

Abstract:

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.

journal_name

J Clin Pathol

authors

McCluggage WG,Sumathi VP,Nucci MR,Hirsch M,Dal Cin P,Wells M,Flanagan AM,Fisher C

doi

10.1136/jcp.2006.040931

subject

Has Abstract

pub_date

2007-06-01 00:00:00

pages

674-80

issue

6

eissn

0021-9746

issn

1472-4146

pii

60/6/674

journal_volume

60

pub_type

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