Concomitant Intraocular Retinoblastoma and Choroidal Hemangioma in a 1-Year-Old Boy

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1 Cse Report doi: /tjpth Concomitnt Introculr Retinoblstom nd Choroidl Hemngiom in 1-Yer-Old oy Ycoub A. Yousef 1, Mys Al-Hussini 2, Freed H. rkt 2, Al Sleh 3, Mon Mohmmd 1, Rsh Deebjh 4 Deprtment of 1 Surgery/Ophthlmology, 2 Pthology, 3 Rdiology nd 4 Peditric Oncology, King Hussein Cncer Center, Ammn, Jordn ASTRACT We report cse of concomitnt choroidl hemngiom in n eye tht hrbored introculr retinoblstom (R) in 1-yer-old child. A 12-month-old boy presented with right white pupil (Leukocori). The initil clinicl dignosis ws unilterl introculr R Group C. The eye ws treted initilly by systemic chemotherpy combined with focl consolidtion therpy followed by I-125 plque rdiotherpy. Mssive sub-retinl recurrence ws seen 4 months lter, nd Mgnetic Resonnce Imging (MRI) showed extr-sclerl invsion of the tumor, nd therefore enucletion ws performed. Microscopic exmintion reveled differentited retinoblstom ssocited t the site of the bse of the tumor with choroidl hemngiom with trns-sclerl invsion. Orbit MRI ws repeted 3 months fter the surgery, nd there ws no orbitl tumor recurrence. We re reporting rre cse of pthologiclly concomitnt choroidl hemngiom with trns-sclerl invsion in n eye tht hrbored ctive recurrent introculr R. This trns-sclerl extension of hemngiom ws misinterpreted by MRI s extroculr retinoblstom nd resulted in enucletion. Key Words: Choroidl neoplsm, Hemngiom, Leukocori, Retinoblstom INTRODUCTION Retinoblstom (R) is the most common introculr mlignnt tumor in children with bout two-thirds of cses occurring before the end of the third yer of ge (1). Such Rs usully remin undetected until they grow lrge enough to produce white pupil or result in eye redness nd pin due to secondry glucom. R often spreds through the optic nerve, or the orbitl tissues by penetrting the scler (2), nd it is therefore not uncommon to see concomitnt introculr nd orbitl spce-occupying lesions in ptients with dvnced R. Although the dignosis of R is clinicl, imging plys n importnt role in supporting the dignosis in ddition to the bility to detect extroculr disese extension (4). Mgnetic Resonnce Imging (MRI) is used to nswer the key clinicl questions tht my help in the selection of n pproprite line of tretment by detecting tumor extension, optic nerve nd retro-bulbr spce involvement, s well s brin metstsis (3,4). Herein we re reporting very rre cse of concomitnt choroidl hemngiom with trns-sclerl invsion in n eye tht hrbored ctive recurrent introculr R in 1-yerold child tht ws misinterpreted by MRI s extroculr extension of R. MEDLINE serch of the published literture did not show ny similr cses. CASE REPORT A 12-month-old boy presented with two weeks history of right white pupil (Leukocori) nd loss of fixtion when the left eye ws closed. There ws no fmily history of eye cncer. On exmintion, the right eye did not fixte, while the left eye ws centrl, stedy nd mintined. There ws right fferent pupillry defect. No oculr inflmmtion nd no port wine stin were seen. Exmintion under nesthesi showed norml nterior segment, nd introculr pressure ws 14mmHg in both eyes. Dilted fundus exm of the right eye reveled lrge mculr retinl melnotic mss ssocited with focl subretinl seeds nd vitreous seeds within 3mm of the tumor (Figure 1A). There were no bnorml iris vessels or nterior segment invsion. The left fundus exm ws unremrkble. Orbit MRI reveled right endophytic, dome-shpe introculr mss tht showed hyper intense signl on T1- weighted imges nd intermedite signl on T2-weighted imges with mild homogeneous post contrst enhncement (0.6cmx1.3cm) nd no extr sclerl extension or optic nerve invsion. The initil clinicl dignosis ws unilterl introculr endophytic retinoblstom (R); interntionl introculr retinoblstom (IIRC) group C (5). The fmily elected to Received : Accepted : Correspondence: Rsh Deebjh Deprtment of Peditric Oncology, King Hussein Cncer Center, Ammn 11941, Jordn E-mil: Phone:

2 Turkish Journl of Pthology Yousef YA et l: Concomitnt Retinoblstom nd Hemngiom follow conservtive therpy (rther thn enucletion), nd therefore the ptient received 6 cycles of systemic chemotherpy (CVE) combined with focl consolidtion therpy. Since the tumor ws ctive nd loclized fter 6 cycles, I-125 rdioctive plque ws inserted. Initilly the tumor showed regression, but tumor recurrence ws seen 4 months fter plque surgery, ssocited with mssive recurrent retinl seeds (Figure 1). Initil pln for this recurrence ws intr-rteril chemotherpy versus enucletion, but new MRI showed extr-sclerl invsion t the bse of the previously treted tumor (Figure 2A,). Therefore enucletion ws performed. At the time of enucletion, gross inspection of the globe did not show extr-sclerl tumor extension or optic nerve invsion. The bisected eye hrbored grossly melnotic tumor mesuring 11x4mm. Microscopic exmintion reveled differentited R with endophytic growth pttern ssocited with miniml choroid invsion nd no optic nerve invsion or extr sclerl extension. The R cells did not extend into or beyond the scler, however, there ws nother melnotic growth underneth the R composed of prolifertion of thin-wlled lrge cliber vessels (dilted spces, filled with blood) tht hd the longest dimeter prllel to the surfce of the choroid nd penetrted the scler. The growth showed positive stining for CD34 nd FLI-1 stins tht mde it consistent with hemngiom (Figure 3A-D). Interestingly, this lesion ws t the site of the bse of the tumor corresponding to the suspicious re of trns-sclerl extension seen on MRI, nd this hd been misinterpreted on MRI s R with extroculr extension. There ws no histologicl evidence of extroculr or trns-sclerl R, nd the only explntion for the discrepncy between the MRI findings nd the pthology findings ws the detected unexpected hemngiom t this site. The finl histopthologic dignosis ws differentited introculr R ssocited with choroidl hemngiom. Orbit MRI ws repeted 3 months fter the surgery, nd there ws no tumor recurrence. DISCUSSION Orbitl extension of R develops in fewer thn 10% of ptients nd is ssocited with higher mortlity rte. When the tumor is confined to the globe, the 5 yer survivl is over 90%, wheres if the tumor extends outside the globe, the mortlity is over 90% (6,7). This ws the bsis for the enucletion decision in this cse immeditely fter the MRI tht showed suspicion of extroculr disese extension. sed upon the findings of study of 1543 ptients with dignosis of introculr nd/or orbitl spce occupying lesions, the differentil dignosis of lesion involving both the orbit nd the eye includes R, idiopthic inflmmtory pseudotumor, lymphom, nd Sturge-Weber syndrome (8). Figure 1: Clinicl fetures. Fundus exm of the right eye t dignosis A) reveled lrge mculr retinl tumor (blck str) with enlrged vessels ssocited with sub-retinl fluid, focl sub-retinl seeds, nd vitreous seeds. ) Four months fter rdioctive plque therpy, the ptient developed recurrent tumor ctivity in the min tumor (blck str) ssocited with multiple ctive retinl seeds (blck rrows). 2

3 Yousef YA et l: Concomitnt Retinoblstom nd Hemngiom Turkish Journl of Pthology The most common concomitnt scenrio is R with orbitl extension, even in ptient with Sturge-Weber syndrome. In single cse in this series, the ptient hd R with introculr nd extroculr extension, nd lthough he hd Sturge-Weber syndrome, there ws no concomitnt hemngiom. In our ptient, we were looking pthologiclly for evidence of extroculr tumor extension t the site tht ws seen in MRI. No extroculr extension by R ws noted in the initil pthologic review of the sections, nd therefore we could not find n explntion for the MRI finding of sclerl invsive R. However; upon further pthology review, hemngiom ws noted corresponding exctly to the site nd morphology of the sclerl invsion reported in MRI. Immuno-histochemicl stining confirmed the dignosis nd therefore no further mngement ws necessry. Full body exmintion of the ptient filed to show ny evidence of hemngioms, so this ptient did not hve Sturge-Weber syndrome. Choroidl hemngioms re congenitl vsculr hmrtoms tht hve been reported in 2 vrieties: solitry circumscribed hemngioms, nd diffuse hemngioms. Riss et l. (9) reported cse of 4-yer-old boy with diffuse choroidl hemngiom, nd without fetures of the Sturge-Weber syndrome, which presented s gryish introculr mss with n overlying retinl detchment ssocited with orbitl mss. The pthologic exmintion reveled choroidl hemngiom involving the entire choroid with n extr-sclerl extension. Similrly, Fru et l. (10) reported cse of typicl circumscribed choroidl hemngiom with retinl detchment in 41-yer-old mn in which ultrsonogrphy showed hyper-echogenic re extending through the scler, nd surgicl explortion reveled n extr-sclerl hemngiom. Our ptient would hve the circumscribed type of choroidl hemngiom with trns-sclerl extension. Figure 2: Rdiologic findings. A) Orbit MRI showed smll, contrst enhncing mss in the posterior segment of right eye globe, comptible with clinicl fetures of recurrent tumor (red rrow). ) There is focl defect of the overlying scler ssocited with thin liner, trns-sclerl enhncement extending to extr-oculr tissue (red rrow), which shows intermedite signl on T2WI, similr to the remnnt tumor. 3

4 Turkish Journl of Pthology Yousef YA et l: Concomitnt Retinoblstom nd Hemngiom C D Figure 3: Histopthologic sections showed A) Retinoblstom (lck strt) overlying nother melnotic choroidl tumor (blck rrow) tht penetrtes the scler (H&E; x40). ) This choroidl tumor (blck rrow) exists between the Retinoblstom (Str) nd the scler (Dimond) nd consists of dilted spces, lined by flttened endothelium nd filled with blood (H&E; x100). These cells re positive for both C) CD34 stin (IHC; x200) nd D) FLI-1 stin (IHC; x100), which is consistent with hemngiom. In conclusion we re reporting very rre cse of pthologiclly dignosed concomitnt choroidl hemngiom with trns-sclerl extension in n eye tht hrbored ctive recurrent introculr R in 1-yer-old child. This trns-sclerl extension of hemngiom ws misdignosed rdiologiclly s extroculr R nd resulted in enucletion. To our knowledge, this is the first cse report of this unusul ssocition. CONFLICT of INTEREST The uthors declre no conflict of interest. REFERENCES 1. Interntionl Incidence of Childhood Cncer, Vol. II. IARC Sci Publ. 1998: Yousef YA, Al-Hussini M, Mehyr M, Sultn I, Jrdt I, AlRwshdeh K, Khurm S, Deebjh R, Nwiseh I. The Predictive Vlue of TNM Clssifiction, The Interntionl Clssifiction, nd Reese- Ellsworth stging of retinoblstom for the likelihood of high risk pthologic fetures. Retin. 2015;35: Kivel T. The epidemiologicl chllenge of the most frequent eye cncer: Retinoblstom, n issue of birth nd deth. ritish Journl of Ophthlmology, 2009;93:

5 Yousef YA et l: Concomitnt Retinoblstom nd Hemngiom Turkish Journl of Pthology 4. Rzek AA, Elkhmry S. MRI of retinoblstom. r J Rdiol. 2011;84: Linn Murphree A. Introculr retinoblstom: The cse for new group clssifiction. Ophthlmol Clin North Am. 2005;18: Kliki S, Shields CL, Rojnporn D, Al-Dhmsh S, McLughlin JP, Shields JA, Egle RC Jr. High-risk retinoblstom bsed on interntionl clssifiction of retinoblstom: Anlysis of 519 enucleted eyes. Ophthlmology. 2013;120: Kopelmn JE, McLen IW, Rosenberg SH. Multivrite nlysis of risk fctors for metstsis in retinoblstom treted by enucletion. Ophthlmology. 1987;94: Yn L, Shen T, Chen J. Concomitnt Introculr nd Orbitl Spce-Occupied. Optom Open Access 2016; 1:2. 9. Riss JM, Girrd NJ, Proust H, Lebreuil G, Rybud CA, Ridings. Diffuse choroidl hemngiom: Report of clinicopthologicl study in 4-yer-old boy. Ophthlmologic. 1995;209: Fru E, Grégoire-Cssoux N, Lbetoulle M, Lutier-Fru M, Offret H. Hemngiom of the choroid with extr-sclerl extension. J Fr Ophtlmol. 1999;22:

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