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
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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
aaDepartmentofOtorhinolaryngology–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.
©2016TheAuthors.PublishedbyElsevierLtdonbehalfofIJSPublishingGroupLtd.Thisisanopen accessarticleundertheCCBY-NC-NDlicense(http://creativecommons.org/licenses/by-nc-nd/4.0/).
1. Introduction
Synovialsarcoma(SS)isuncommonhighgradesofttissuesar- coma,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)isuncommonhighgradesofttissuesar- coma,supposedlyaccountingforlessthan10%ofallheadandneck sarcomas[1].About10%ofSSoccurwithintheHead&Neck[1], withamedianageofpresentationinthethirddecade1makingSS
http://dx.doi.org/10.1016/j.ijscr.2016.08.043
2210-2612/©2016TheAuthors.PublishedbyElsevierLtdonbehalfofIJSPublishingGroupLtd.ThisisanopenaccessarticleundertheCCBY-NC-NDlicense(http://
creativecommons.org/licenses/by-nc-nd/4.0/).
CASE REPORT – OPEN ACCESS
2 N.H.Alotaibietal./InternationalJournalofSurgeryCaseReports28(2016)1–3
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×.
CASE REPORT – OPEN ACCESS
N.H.Alotaibietal./InternationalJournalofSurgeryCaseReports28(2016)1–3 3
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,especiallyinthepediatricpopula- tion,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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