Synovial sarcoma of the hypopharynx in a pediatric patient: Case report

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Article

Reference

Synovial sarcoma of the hypopharynx in a pediatric patient: Case report

ALOTAIBI, Naif Hudaik K, et al.

Abstract

Synovial sarcoma (SS) is uncommon high grade soft tissue sarcoma, accounting for less than 10% of all head and neck sarcomas. Also, about 10% of SS occur within the Head & Neck. In the pediatric population, SS is an extremely rare head & neck malignancy.

ALOTAIBI, Naif Hudaik K, et al . Synovial sarcoma of the hypopharynx in a pediatric patient:

Case report. International Journal of Surgery Case Reports , 2016, vol. 28, p. 1-3

DOI : 10.1016/j.ijscr.2016.08.043 PMID : 27649458

Available at:

http://archive-ouverte.unige.ch/unige:89608

Disclaimer: layout of this document may differ from the published version.

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CASE REPORT – OPEN ACCESS

InternationalJournalofSurgeryCaseReports28(2016)1–3

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

Synovial sarcoma of the hypopharynx in a pediatric patient: Case report

N.H. Alotaibi

^a,∗

, Aurélie Bornand

^b

, Nicolas Dulguerov

^a

, M. Becker

^c

, Pavel Dulguerov

^a

aDepartmentofOtorhinolaryngology–Head&NeckSurgery,GenevaUniversityHospital,4,rueGabriellePerret-Gentil,1204Geneva,Switzerland

bDepartmentofClinicalPathology,GenevaUniversityHospital,4,rueGabriellePerret-Gentil,1204Geneva,Switzerland

cDepartmentofRadiology,GenevaUniversityHospital,4,rueGabriellePerret-Gentil,1204Geneva,Switzerland

a r t i c l e i n f o

Articlehistory:

Received13July2016

Receivedinrevisedform27August2016 Accepted27August2016

Availableonline3September2016

Keywords:

Synovialsarcoma Head&neck Pediatric Casereport

a b s t r a c t

INTRODUCTION:Synovialsarcoma(SS)isuncommonhighgradesofttissuesarcoma,accountingforless than10%ofallheadandnecksarcomas.Also,about10%ofSSoccurwithintheHead&Neck.Inthe pediatricpopulation,SSisanextremelyrarehead&neckmalignancy.

PRESENTATIONOFCASE:WepresentacaseofsixteenyearsoldboydiagnosedwithSSsituatedofthe hypopharynxtreatedbysurgicalexcisionandpostoperativeradio-chemotherapy.

DISCUSSION:Thisanatomicallocationbringsadditionalfunctionalchallenges(swallowing,phonation, respiration),especiallyinthepediatricpopulation.Pre-operativeandevenpost-operativehistopatho- logicaldiagnosisofSSremainsdifﬁcult.OptimaltreatmentofHead&NeckSShastobalancefunctional andoncologicaspects.

CONCLUSION:SSisanextremelyrarehead&neckmalignancyinpediatricpopulation.Ithasmultifaceted challengesincludingpreandpost-operativehistopathologicaldiagnosisandoptimalmodalityoftreat- ment.Clinicaljudgment,especiallyinthepediatricpopulation,needstobalancetumorfreemarginsand organpreservationinheadandneckregion.

1. Introduction

Synovialsarcoma(SS)isuncommonhighgradesofttissuesarcoma,accountingforlessthan10%ofallheadandnecksarcomas.

Also,about10%ofSSoccurwithintheHead&Neck.Inthepediatric population,SSisanextremelyrarehead&neckmalignancy.

2. Presentationofcase

Asixteenyearsoldboywasreferredforaleftneckmassandthe remainingclinicalhistorywasunremarkable.Aﬁrm4×3cmleft neckmass,notmobile,medialtothesternocleidomastoidmuscle wasappreciated.Flexibleendoscopy(Fig.1)revealedaleftsub- mucosallateralpharyngealwallmassimpingingonthelarynxbut withnormalvocalcordsmobility.

Theheadandneckmagneticresonanceimagingstudiesshowed thatthemassmeasured4.8×3.3×7.0cmdisplacingthegreatves- selslaterallyandpushingthelefthypopharynxandlarynxmedially (Fig.2).

Thepatientunderwentanexcisionofthemassthoroughaleft cervicotomy.Duringsurgery,thetumorwasmedialandeasilydis-

Abbreviations:SS,synovialsarcoma.

∗Correspondingauthor.

E-mailaddress:nlot@hcuge.ch(N.H.Alotaibi).

sectedfromthesternocleidomastoidmuscleandcarotidsheath.It wascoveredlaterallybyamuscularlayeranddifficulttodissect fromtheposterioredgeofthethyroidcartilage.Completeresec- tionresultedinanelongatedhypopharyngealperforationwhich wasrepairedwithoutflapusage.Thepost-operativecoursewent uneventful,withoutcranialnervedeficit,andthepatientresumed oralfeedingonday7.At8monthsfollowup,norecurrencewas detected(Fig.3).

HistologyrevealedabiphasicSynovialsarcoma(SS),withmalig- nantspindle-cellproliferation(Fig.4)andfocalepithelioidcells, showingvascularinvasion. Therewere35 mitosesper10 high- powerfields(HPFs)andnecroticfoci.Thetumorwaswell-defined butnotencapsulated.Immunohistochemicalstainingwasfocally positiveforEMA(EpithelialMembraneAntigen),pancytokeratins, CD56andDOG1(DiscoveredonGIST-1),andnegativeforS100, smooth muscleactin, desmin, c-Kit (CD117) and CD34.RT-PCR showedat(X;18)(p11;q11)translocation,andfluorescenceinsitu hybridization (FISH)showeda rearrangementof theSS18 gene (Fig.5).

3. Discussion–synovialsarcomaofthehypopharynx

Synovialsarcoma(SS)isuncommonhighgradesofttissuesarcoma,supposedlyaccountingforlessthan10%ofallheadandneck sarcomas[1].About10%ofSSoccurwithintheHead&Neck[1], withamedianageofpresentationinthethirddecade¹makingSS

http://dx.doi.org/10.1016/j.ijscr.2016.08.043

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

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Fig.1. Endoscopicviewofthelarynxandpharynx.Alateralnormalmucosacovered massdisplacesthelarynx.

Fig.2. ThemassparenchymashowedT1weightedsignalisointensetoskeletalmus- cleandhyperintensesignalonT2weightedimagingwithremarkableenhancement.

T1SPAIRsequenceaftergadoliniumshown.

anextremelyrareheadandneckmalignancyinthepediatricpop- ulation.AbouthalfofheadandneckSSarisefromthesofttissuesof neck,whiletheremaininghalfarerelatedtoaero-digestivetrack structures[1].Therefore,apainlessneckmassisthemostfrequent presentingsign,theremainingsymptomsdependingontheexact locationofthetumor.

AlthoughSSisnamedbecauseofthehistologicalresemblance tothesynovium,jointsarerarelyinvolvedandtheoriginhasbeen attributedtopluripotentmesenchymalcells[1].Histologicallytwo formsaredescribed:monophasic(containingonlyspindlecells) andbiphasic,madeoffbothspindleandepithelioidcells.Spindle cellsarearrangedinsheetsorfascicleswithoccasionalherring- bonepattern.Nuclearpalissadingisrare,unlikeleiomyosarcoma andmalignantperipheralnervesheathtumors.Epithelialcellsform glandularstructureorarearrangedinsolidnestsorcords.Therecan besomepoorlydifferentiatedareasshowinganepithelioidpattern, asmall-cellpatternand/orahigh-gradespindle-cellpattern.Many SSfocallyshowahemangiopericytic(vascular)pattern[2–4].

Fig.3. GadoliniumenhancedT1weightedimageobtainedaftersurgeryshows contrastenhancementalongtheouterborderofthethyroidcartilageintheleft prelaryngealstrapmusclesandalongtheleftsternocleidomastoidmuscledueto inﬂammatorypostoperativechanges.Follow-upMRIeightmonthslaterrevealed gradualdecreaseofcontrastenhancement.

Fig.4.Malignantspindle-cellproliferation.Hematoxylin-eosin,originalmagniﬁca- tion,20×.

Fig.5.Break-apartFISH.TheredandgreensignalsnormallyﬂanktheSS18gene;

splittingofthesesignalsindicatesarearrangement(arrow).Magniﬁcation10×.

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ThedifferentialdiagnosisdependsonthetypeofSS.Acorrect initialhistopathologicdiagnosisofmonophasicSSisoftendiffi- cult:thedifferentialdiagnosisincludingotherspindle-celltumors suchasmalignant peripheralnervesheath tumors, leiomyosar- coma,rhabdomyosarcoma,fibrosarcoma, solitaryfibroustumor, andspindlecellcarcinoma.BiphasicSSiseasiertoidentify,with malignantperipheralnervesheath tumors,carcinosarcoma,and malignantmesotheliomabeingthedifferentialdiagnosis[3,4].

Immunohistochemistry is helpful, with most SS showing focal immunoreactivity for EMA and cytokeratins, contrary to malignantperipheralnervesheath tumors,leiomyosarcomaand rhabdomyosarcoma[2–4].SSmaybefocallypositiveforCD56(up to80%)[4],S100(upto40%)[2,4],andDOG1(15%)[5].CD34is generallynegative(<5%),incontrasttosolitaryﬁbroustumor[2,4].

Leiomyosarcomaispositivefordesminandsmoothmuscleactin, whilerhabdomyosarcomaispositivefordesminandmyogenin[3].

Most(90%)SSexhibitatranslocationt(X;18)(p11:q11)between chromosomes 18 (SYT gene) and X (SSX gene), resulting in a SYT-SSX-1(biphasicSS)orSYT-SSX-2(monophasicSS)fusion[6].

Generally we use break-apart FISH and RT-PCR to search the translocation.Thistranslocation isspeciﬁcanddiagnosticforSS [2–4].

PreoperativediagnosisofSSischallengingbecauseofitsnon- specificsymptomatology,lowclinicalmorbidity,lackofspecific radiologicfeatures, and physicians’unfamiliarity. Themostfre- quentpreoperativediagnosisisneurogenictumors andarecent studyofperipheralSSsuggeststhatpain,shortsymptomduration, peritumoraledemawithoutadefinitetargetsignonMRimages shouldevokeSS[7].

Prognosisofsynovialsarcomahasbeenrelatedtotumorsize [1,8],biphasichistology,[1,6,8]SSY-SSX2genefusion,andnega- tiveresectionmargins[1].Sinceourpreoperativediagnosiswasa schwannoma,theresectionwaslessradicalthanpossibleandthe marginswerefocallypositive,afrequentﬁndingwithSS.Others haveperformedextensiveresectionswithtotallaryngopharyngec- tomyformarginclearanceinsimilarcase[9].Clinicaljudgment, especiallyinthepediatricpopulation,needstobalancetumorfree marginsandorganpreservation.Besidessurgery,radiationseems toconfer a localcontrol and survival beneﬁt,while therole of chemotherapyiscontroversial[1].

4. Conclusion

SSisanextremelyrarehead&neckmalignancyinpediatric population.Ithasmultifacetedchallengesincludingpreandpost- operative histopathological diagnosis and optimal modality of treatment.Clinicaljudgment,especiallyinthepediatricpopulation,needstobalancetumorfreemarginsandorganpreservation inheadandneckregion.

Conﬂictsofinterest

Theauthorshavenoconﬂictofinteresttodeclare.

Funding None.

Ethicalapproval

Approvaltopublishcasereportiswaivedbytheinstitution.

Consent

Writteninformedconsentwasobtainedfromthepatientfor publicationofthiscasereportandaccompanyingimages.Acopy ofthewrittenconsentisavailableforreviewbytheEditor-in-Chief ofthisjournalonrequest.

Authorcontribution

NaifAlotaibi.H,MD:makesubstantialcontributionstoconcep- tionanddesign,acquisitionofdata,analysisandinterpretationof data.

Aurélie Bornand, MD: participate in drafting thearticle and revisingitcriticallyforimportantintellectualcontent.

DulguerovNicolas,MD:participateindraftingthearticleand revisingitcriticallyforimportantintellectualcontent.

BeckerM,MD:participateindraftingthearticleandrevisingit criticallyforimportantintellectualcontent.

PavelDulguerovMD:giveﬁnalapprovaloftheversiontobe submittedandanyrevisedversion.

Guarantor

PavelDulguerov,MD.

Acknowledgements Notapplicable.

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