Aalborg Universitet A case of clear cell sarcoma-A rare malignancy Juel, Jacob; Ibrahim, Rami Mossad

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A case of clear cell sarcoma-A rare malignancy

Juel, Jacob; Ibrahim, Rami Mossad

Published in:

International Journal of Surgery Case Reports

DOI (link to publication from Publisher):

10.1016/j.ijscr.2017.05.034

Creative Commons License CC BY-NC-ND 4.0

Publication date:

2017

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Publisher's PDF, also known as Version of record Link to publication from Aalborg University

Citation for published version (APA):

Juel, J., & Ibrahim, R. M. (2017). A case of clear cell sarcoma-A rare malignancy. International Journal of Surgery Case Reports, 36, 151-154. https://doi.org/10.1016/j.ijscr.2017.05.034

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ContentslistsavailableatScienceDirect

International Journal of Surgery Case Reports

j o u r n al ho m e p a g e :w w w . c a s e r e p o r t s . c o m

A case of clear cell sarcoma—A rare malignancy

Jacob Juel

^a,∗

, Rami Mossad Ibrahim

^b

aDepartmentofPlasticandReconstructiveSurgery,AalborgUniversityHospital,Aalborg,Denmark

bDepartmentofPlasticandReconstructiveSurgery,OdenseUniversityHospital,Odense,Denmark

a r t i c l e i n f o

Articlehistory:

Received20February2017

Receivedinrevisedform26May2017 Accepted27May2017

Keywords:

Clearcellsarcoma Sarcoma

Malignantmelanomaofthesofttissue Surgery

Plasticsurgery

Clearcellsarcomaoftendonsand aponeuroses

Clearcellsarcomaofthesofttissue

a b s t r a c t

INTRODUCTION:Clearcellsarcoma(CCS)isararetumourofthesofttissueoftenmisdiagnosed,asitshares characteristicswithmalignantmelanoma(MM).Previously,CCShasbeencharacterised,asmalignant melanomaofthesofttissue,contemporaryimmunohistochemicaltechniques,however,havemadethis designationobsolete.Thetrueincidenceremainsunknown,butCCSisbelievedtorepresentlessthan onepercentofallsarcomas.

PRESENTATIONOFCASE:A22-year-oldpatientpresentedwithamasssized2.6×2.7×2.7cmoftheleft glutealregion,pain,andmalaise.Initially,thesymptomswereinterpretedasaninfection.Subsequent, pathologicaldiagnosisaftersurgicalremovalwastentativelyMMalbeitdeﬁnitivepathologicaldiagnosis wasCCS.

DISCUSSION:Thepatientofthiscaseunderwentdeﬁnitivesurgicaltreatmentwith2cmmargin.Inspite oftimedelay,becauseofprolongedtimefordeﬁnitivediagnosis,PET-CTandsentinellymphnodebiopsy didnotshowanymetastasis.One-yearpostoperatively,multidisciplinaryfollow-upiswithoutsuspicion ofrelapse.

CONCLUSION:AccurateandtimelydiagnosisofCCSareimperative,asinitialmisdiagnosis,maycause delayandfurthertumourgrowth,whichiscorrelatedtotheprognosis.

1. Introduction

Clearcellsarcomaoftendonsandaponeurosesorsoft tissue orsimplyjustclearcellsarcoma(CCS)aretumoursofverylow incidencederivedfromneuralcrestcellsoriginatingfromthesoft tissue,representinganestimatedonepercentofallsarcomas,yet, thetrueincidenceremainsunknown[1,2].In2013theannualinci- denceofallsarcomasofthesofttissuewere220inDenmark[3].

Hitherto,nodescriptionsofCCSfromDenmarkareavailableinthe Englishliterature,andonlythreeoccurrencesofCCSarereported inDenmarkintheperiodfrom2009to2013[3].Thiscaseisdis- seminatedaccordingtotheSCAREcriteria[4].Thetreatmentofthis patientwasmanagedatauniversityhospitalinDenmark.

CCS shares morphological similarities with malignant melanoma (MM), hence, the key process in the diagnosis of CCSistodistinguishitfromothertumours,i.e.MMinparticular, tofacilitatefast,correct,andappropriatetreatment[5,6].Theneo- plasticcellsofCCSareclearorpale,appearpolygonaltofusiform witheosinophilictoamphophiliccytoplasm, andhave centrally located uniform and round nuclei with prominent basophilic nucleoli,similartothatofMM[5].Theclearcellappearanceisdue

∗ Correspondingauthorat:DepartmentofPlasticSurgery,AalborgUniversity Hospital,Sdr.Skovej3,DK-9000Aalborg,Denmark.

E-mailaddress:jacob.juel@rn.dk(J.Juel).

totheaccumulationofglycogen(Fig.1).CCSwaspreviouslychar- acterisedasMMofthesofttissue,butcontemporarytechniques havemadethisdesignationobsolete[5].Debutisonaveragedur- ingthethirddecade,themale-femaleratioisapproximately1:1, althoughCCSseemstobeslightlymorecommoninfemales.The lowerlimbsaremostfrequentlyaffected[5].Themostcommon presentationisa slowlygrowingandtenderorpainful lumpof theextremities.Asthetumourgrows,it invadesnearbytissues andovertime,symptomsofmoreadvancedcancermightdevelop, includingi.a.weightloss,malaiseandlossofappetite.The5-year survivalisestimatedto63percentandtumoursizeisimplicated intheprognosis[7,8].

2. Presentationofcase

A22-year-olduniversitystudentwithnopreviousmedicalhis- torypresentedtotheAccidentandEmergencyDepartmentafter referral from her General Practitioner with a growing mass of theleftglutealregion.Thepatienthadexperiencedlocaltender- ness and malaisefor approximatelyone weekprior tocontact.

Noprevioustraumawaspresentandthepatientwasnotonany medication.Therewasnofamilyhistoryofanycancersandthe patient didnotsmoke. Anultrasound showed awell-delimited massof2.6×2.7×2.7cmbelowskin,butabovetheglutealmus- cles(Fig.2).Initially,theprocesswassuspectedtorepresentan infection.Hence,anoperationwasmadetoevacuatethepotential

http://dx.doi.org/10.1016/j.ijscr.2017.05.034

org/licenses/by-nc-nd/4.0/).

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152 J.Juel,R.M.Ibrahim/InternationalJournalofSurgeryCaseReports36(2017)151–154

Fig.1.Periodicacid-Schiffstain.Clearcellsarcoma.Clearcellappearancebecauseofglycogenaccumulationincytoplasm.

Fig.2.Preoperativeultrasonographyofthepatient’sglutealregion.

abscess.Duringtheoperationacentrallylocatedsolidmasswas noted,whichthesurgeonremovedintoto.Subsequentpathological diagnosiswasMMandthepatientwasreferredtotheDepartment ofPlasticSurgeryforfurthertreatment.AninterimPET-CTrevealed nometastases. AttheDepartmentofPlastic Surgery,ingeneral anaesthesiathepatienthadfurthersurgerytoremoveanyremain- ingtumourandtomakesentinellymphnodebiopsy.Thesurgeon wasaConsultantPlasticSurgeon.Thelymphnodebiopsyrevealed notumourcells.Apathologicalrevisionofthetumourconcluded thatthetumourrepresentedCCSwithintactsurgicalmarginsof twocm.Forfollow-up,thepatienthasbeenreferredtoamultidis- ciplinarysarcomacentre.Includedinthefollow-uparechestx-rays andPET-CTs.One-yearpostoperatively,thepatientadherestothe follow-upprogrammewithoutanysignsofrelapse.

3. Discussion

The present case of CCSrepresentsan unfortunatelytypical courseofCCS,asthetumourwasmisdiagnosedinitially(Fig.3a andb).In thiscase a 22-year-oldlady presentedwithlocalised pain,anexpandingmass,andlethargy.In previouscasesofCCS manifestationsresemblingthecurrentcasewereevident[1,2,7].

Meanageandlocalisationoftumour areparalleltothepresent case,asthelowerlimbsseemtobemostfrequentlyaffected[9].Ina retrospectivestudyofpatientswithCCS,thetumoursoccurredpre- dominantlyinyoungpatientsbetweentheageof15and35years [9],Furthermore,femaleswereslightlymoreaffectedthanmale patients[9].Thecurrentcaseisthereforeacommonpresentation ofCSSandinspiteofthis,thediagnosiswasnotmadeprimarily, whichfurtherunderlinestheimportancetoconsiderbothCCSand

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Fig.3. (a)TypicalappearanceofclearcellsarcomaonMRIenhancedbycontrast administration.bTypicalappearanceofclearcellsarcomaonMRIwithoutcontrast administration.

MMincasesofdoubttoensuretimelyandcorrectdiagnosisfor optimaltreatment.Fortunatelyinthepresentcase,thetumoursize remainedwithinthereachofsurgerydespitedelayandthepatient remainscancerfree.

ThetreatmentprotocolsofbothCCSandMMwasfollowedinthe currentcase,asMMofthissizeshouldbesurgicallyremovedwitha marginoftwocm[10].NocurrentnationalguidelineforCCSexists, however,asurgicalmarginofatleastonecmisaccepteddomesti- cally[3].Follow-updiffers,aschemotherapymaybebeneﬁcialin selectedcasesofMM,whereasCCSdoesnotseemtorespondto neitherchemotherapynorradiation[11,12].Inallcasesamultidis- ciplinaryapproachforfollow-upisrecommended.

Regardingpathologicalexamination,nocommonsignsorsymp- toms,atypicallylocalisation, and/orpresentationof MMshould warrantfurtherexaminations,ifthehistologicalfeatures ofthe

tumourpresentsastypicallytoMM,consideringCCSasmaindiffer- entialdiagnosis[7].Keepinmindthatapproximatelytwothirdsof allCCScontainmelanin,andthereforeareS-100positive,whereas theimmunologicalproﬁleforCCSistypicallypositiveformelan- A,HMB-45,andmicrophthalmiatranscriptionfactor[7].In90%of allcasesofCCSpolymerasechainreactionandﬂuorescenceinsitu hybridisationcandetachthetranslocation(t[12;22][q13;q12])or aresultantEWSR1-ATF1fusiongeneuniqueforCCS[7,13].

4. Conclusion

Although,CCSisararetumour,itshouldbekeptinmindincases ofpatientspresentingwithtumoursofthesofttissue.Furthermore, aninitialdiagnosisofMMintumoursofthesofttissueshouldwar- rantfurtherexaminationstoexcludeCCS,fortheoptimalspeciﬁc treatment, albeitall delaysshouldbediminishedifpossible,as moretimespendondiagnosispotentiallyequalsalargertumour andamoresinisterprognosis.

Conlictsofinterest

Noneoftheauthorshaveanyconﬂictofintereststodeclare.

Funding None.

Ethicalapproval

Thiscasereportdidnotrequireethicalapproval.

Consent

Writteninformedconsentwasobtainedfromthepatientfor publicationofthiscasereportandanyaccompanyingimages.

Authorcontributions

JacobJuel:draftedtheﬁrstversionofthemanuscriptandcritical revisionofthemanuscriptforimportantintellectualcontent.

RamiMossadIbrahim:criticalrevisionofthemanuscriptfor importantintellectualcontent.

Guarantor DrJacobJuel.

Acknowledgment None.

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