An Extremely Rare Case of a High-Grade Pleomorphic Cardiac Sarcoma and Likely Cerebral Metastasis in a Young Patient

An extremely rare case of a high-grade pleomorphic cardiac sarcoma and likely cerebral metastasis in a young patient

TG Wilson, P Jenkins, A Hoschtitzky and M McCabe

Central Manchester Foundation Trust, Oxford Rd, Manchester M13 9WL, UK

Correspondence to: Wilson TG. Email: [email protected]

Abstract

To date, there have been less than a 100 confirmed case reports of primary cardiac malignant fibrous histiocytomas, a rare form of sarcoma. In this report, we discuss the case of a 15-year-old girl who initially presented with a histiocytic cerebral sarcoma that was treated with aggressive resection and chemotherapy. Three years later, the same patient developed increasing shortness of breath and was found to have a high-grade pleomorphic undifferentiated cardiac sarcoma that likely represents the primary tumour from which the cerebral lesion metastasised. This represents an extremely unique case; in 2010, a research group in Germany claimed the very first description of a true cardiac sarcoma with brain metastasis [1]. However, even as far back as 1960, there were three case reports [2] and more extensive sarcoma studies recently have revealed further cases [3]. Nevertheless, there have probably been less than 10 cases in the literature up until this point. Case Report Keywords: sarcoma, cardiac tumours, cardiac MRI, leiomyosarcoma

Published: 15/08/2016 Received: 21/03/2016 ecancer 2016, 10:664 DOI: 10.3332/ecancer.2016.664

Copyright: © the authors; licensee ecancermedicalscience. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

1 Figure 1.MRIbrain2013. treated inMarch2014withnoevidenceofreoccurrenceoranyresidualdisease. by sevencyclesoftemozolomidewherethepatientwasabletotolerate3–4outfivedailydosesineachcycle. The patientconcluded patient wasthentreatedasperUKCCLGHigh-GradeGliomaguidelineswithconcomitantfocalradiotherapyandtemozolomide followed no evidence of lesions in either lung, liver, spleen, or kidneys. There was no lymphadenopathy or free fluid in the abdomen and pelvis. The A CT scanofthepatient’s thorax,abdomen,andpelviswasperformedtolookforothersitesofsarcoma,thisreportedasshowing subtype soft-tissue sarcomas<1%hadcerebralmetastases[9]inthestudyfourofthese20patientswereconfirmedtobehistiocytoma been reported[8].Counteringthis,soft-tissuesarcomasareknownveryrarelytometastasesthebrain,inastudyof3829patientswith or another primary location. Primary cerebral histiocytomas are even rarer than cardiac histiocytomas and as of 2013, only 10 have ever likely diagnosisof the brain tumour was suggested to be ahistiocyticsarcoma,andfurther, imaging was suggested toexclude metastases able atthisstage,showedlymphocyticinfiltrationandahigh-gradetumourthatwasINI1,vimentin,histiocyticmarkers positive. The nately, post-operativescansshowed significant residualdiseaseandthecasewastaken to neurosurgical MDT mid-May. Histology, avail- The followingday, neurosurgeonsperformedaright-sidedfrontal-pterionalcraniotomytoremovethespaceoccupyinglesion. Unfortu- this mostlikelyrepresentedahigh-gradegliomabutalsooffered differentials ofependymomaoraprimitiveneuroectodermaltumour(PNET). mass effect, but no diffusion restriction to indicate tumour infiltration. The on call radiologist felt given the patient’s age and symptoms that cm largeheterogenousmixedsolidandcysticenhancingmassintherightfrontallobe,therewassurroundingvasogenic oedemaandlocal insightful emergencydoctororderedanMRIscanwithIVcontrastthatwasperformedthesameday(Figure1). This revealeda5.8×4.74 history ofanoccipitalheadache,threeweeksintermittentdiplopiaandaone-weekvomitingonmultiple occasionsdaily. An Our case report starts in April 2013 when a 15-year-old girl presented to her local accident and emergency department with a two-month coma, fibrosarcoma,andmalignantfibroushistiocytoma)tendtoaffect theleft-handchambers[7]. mas tendtoaffectosteosar- liposarcoma, leiomyosarcoma, therightsideofheartandotherformssarcoma(rhabdomyosarcoma, with myxomasaccountingforover50%[5]. Just 25%ofcardiactumoursaremalignant,andthese,80%sarcomas[6], angiosarco of 0.001–0.03% a prevalence have shown at autopsy tumours arerare,studies Cardiac Report these tumours. and primarycardiaccerebralsarcomasthatareallrareformconclusionstohelpassisteverydaypracticewhenfacedwith represented theprimarytumourofwhichoriginalbraindepositwasametastasis.We willpresenttheliteratureonhistiocytomas surgery and extensive chemotherapy. During follow–up, two years later, however, she was found to have a cardiac sarcoma that likely This reporthighlightsthecaseofayoungpatientwhopresentedwithanextremelyrarehistiocytomabraintumourthatwastreated Introduction [9]. A dayaftertheMDT, aredorightfrontalcraniotomy wasperformedbytheneurosurgeonstoremoveresidualtumour. 2 www.ecancer.org , and of these, most cardiac tumours arebenign, of these,mostcardiac [4], and ecancer 2016,10:664 -

Case Report de-differentiationtiocytic markersuggested to was given seen. Someconsideration of mitosis were levels high extremely unfortunately and large atypicalcellswasona similar spectrumto the histiocytic sarcomafoundtwo years earlierinthe patient’s brain andthe loss of the his- fluid. were foundinthepericardial MDTat anOncology was discussed histology The caseincluding sarcoma with whofeltthepleomorphic undifferentiatedpleomorphic high-grade sarcomawithMDM2amplificationsuggestingthat cells it was anintimalsarcoma.Nomalignant fluid wassentalongwithtissuefor histology.also performedandpericardial The 8.5× 4.5 × 4 cm specimen (Figure6) was identifiedasa ostia and the posterior mitralvalveannuluswasreconstructedwitha patch of bovine pericardium. A mediastinal lymphnodebiopsy was cardiac tumourwas stripped off layer of the endothelial the mitral valveandthe defect of the left atrial wallbetweenthe vein pulmonary morning (Figure5). urgent resectionthefollowing valve andshethereforeunderwent The posteriorleftatrialwallwiththepedunculated was just28%withastrokevolumeof33mL andcardiac outputof3L/min. obstruction ofinflowintothemitral The mass wasclearlycausing ejection fractionwas55%withastrokevolumeof76mLventricular andcardiacoutputof4.55L/min. fraction ejection The right ventricular vein (Figure4). pulmonary theleftlower to butnotoccluding from themass. inseparable The posteriormitralvalveleafletlooked The left Five dayslater, a cardiacMRI scan wasperformedshowingatumourmassattachedto the posteriorwallof the left atrium lyingveryclose gist suggestedthiscouldeitherrepresentachronicvegetationwithdiseasedmitralvalveormasslesion. time, althoughonlymeasuring2×1.6cmatthattime(Figure3). The masswascentred onthemitralvalveandreportingradiolo- × 3 cm filling defect in the left atrium (Figure ). 2 The radiologist compared this to the 2013 CT scan and noted that it was present at that ing evening and night time fevers. A CT scan was performed to look for a source of the pyrexia of unknown origin. It showed a 4.6 × 3.5 relapse. However, in August 2015,thepatienthadafurtherdropinherhaemoglobinthistimewithoutirondeficiencyandstartedhav- performed in mid-June, the frontal lobe appearances were unaltered from the preceding scan, and there was no evidence of disease with Irondeficiencyanaemiathoughttobesecondaryheavymenstruationthatwassubsequentlytreated.MRIbrain withcontrastwas of breath over a one-month period combined with lethargy and an isolated anaemia. She was assessed by haematology and diagnosed In May 2015, the patient now 17 years old presented to her oncology follow-up clinic appointment complaining of increasing shortness Figure 3.2013CTthoraxwithcontrast. Figure 2.2015CTthoraxwithcontrast. 3 www.ecancer.org ecancer 2016,10:664

Case Report Figure 5.Surgery2015. Figure 4.CardiacMRI2015. aggressive treatmentwithchemotherapyandradiotherapy isbetween9.6and16.5monthsevenwithextensiveresection suggests life-expectancy at primary cardiacsarcomasprognosis looking of 11blood vesselssuggestanaverageprognosis in thiscasetreatmentoptionsaremorerestricted.Casestudies months[13],although toms andmortality,poor extremely remains prognosis although metastasis a cerebral had Aone and onlyasingle patients withsarcoma14wereprimarycardiacsarcomas 13-year datain2007;of1429 Sarcomacentrepublished until thispoint. any signs of post-operativere-occurrence. chemotherapy andhashadfourcyclesup The patienthasnowbegundoxycycline/ifosfamide backto48%allvaluesmeasuredbySimpson’sin themonth,thishadanincreased method. Acardiac MRIdidnotshow post-operative Post-operatively,in thepatient’s there wasaninitialdeterioration 51% downto33%;however, ejectionfractionfromapre-operative later, Two yearslater, whenthecardiactumourwasdiscovered,sarcomahadundergonede-differentiation. a metastasis. represented lesion the cerebral tumour and primary tumour wastheoriginal thatthecardiac it wasmostlylikely and syndrome mutations inp53 with germline to breastcancer,by apredisposition carcinoma, andsarcomas[10].LiFraumeniisassociated adrenocortical braintumours,leukaemia, characterised with veryhighpenetrance condition dominant is anautosomal syndrome. LiFraumenisyndrome a diagnosisofLiFraumeni [12]. in symp- improvements with sarcomas of cardiac management the principle remains resection Aggressive [11]. was The patientwastestedand Li Fraumeni not represent therefore, hercasedid and TP53 negative, [14]. . Case studies of undifferentiatedstudies [12]. Case systemic in large sarcomas intimal 4 www.ecancer.org ecancer 2016,10:664

Case Report

10. References also recommendconsiderationofcardiacMRIimaging,ifthereisanypotentialconcernthataprimaryhearttumourmay beinvolved. CTthat maybemissedonplain of othermetastatic sitesorprimarytumourlocation cases toassistintheidentification We imaging. would has beenfound.PETprimary location an unusual be extremelyuseful inthese surgery would or afterinitial at thetimeofdiagnosis imaging if especially at presentation, investigation for extensive the need highlights of sarcoma, of ararepresentation this case,albeit In conclusion, Conclusion Figure 6.Specimen2015.

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