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Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma
Tumor óseo de células gigantes en techo orbitario de paciente con retinoblastoma bilateral
P. Llavero-Valeroa, A.M. Garrido-Hermosillab,c,
, M.C. Díaz-Ruizb, D. García Aldanad, A. Fernández-Teijeiro Álvarezd, F. Espejo-Arjonac,e
Corresponding author
a UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, Spain
b Unidades de Oculoplastia-Órbita y Oncología Ocular, UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, Spain
c Unidades de Oculoplastia-órbita, RETICS OftaRed, Instituto de Salud Carlos III, Madrid, Spain
d Unidad de Oncohematología Pediátrica, Hospital Universitario Virgen Macarena, Sevilla, Spain
e Unidades de Retina y Oncología Ocular, UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, Spain
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"apellidos" => "Espejo-Arjona" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] ] ] "afiliaciones" => array:5 [ 0 => array:3 [ "entidad" => "UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidades de Oculoplastia-Órbita y Oncología Ocular, UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Unidades de Oculoplastia-órbita, RETICS OftaRed, Instituto de Salud Carlos III, Madrid, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Unidad de Oncohematología Pediátrica, Hospital Universitario Virgen Macarena, Sevilla, Spain" "etiqueta" => "d" "identificador" => "aff0020" ] 4 => array:3 [ "entidad" => "Unidades de Retina y Oncología Ocular, UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, Spain" "etiqueta" => "e" "identificador" => "aff0025" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Tumor óseo de células gigantes en techo orbitario de paciente con retinoblastoma bilateral" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1598 "Ancho" => 1600 "Tamanyo" => 271600 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Tumour seen through RetCam3 (Clarity Medical Systems, Inc., Pleasanton, CA, USA) upon arrival to the authors’ hospital. (A and B) RE: large tumour concentrations with type I regression pattern (predominant calcification) and diffuse vitreous seeding. (C and D) LE: tumour area occupying the entire inferonasal quadrant with multiple subretinal seedings and diffuse in posterior pole, including the macula.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Retinoblastoma is a relatively infrequent tumour, the overall incidence of which is of approximately one for every 20,000 live births. Typically, it expresses in children under 5 years of age. In patients with hereditary retinoblastoma with RB1 gene mutation it is important to follow the possible progression of the tumour as well as the appearance of tumours in other locations due to the high predisposition to tumour development on the basis of said mutation.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">In general, the differential diagnostic of all orbital tumours is complex due to the large number of expansive lesions that could take hold in the area. Even though the certainty diagnostic for this type of lesions is usually anatomopathologic, current imaging tests and their correlation with clinic contribute to the diagnostic.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinic case report</span><p id="par0015" class="elsevierStylePara elsevierViewall">The case of a 5-year-old girl with antecedent of nonfamilial hereditary bilateral retinoblastoma is presented. The patient was diagnosed at 17 months of age in her country of origin, where she was administered 3 cycles of chemotherapy after which right eye (RE) enucleation was proposed. Upon arrival to the authors’ country, funduscopic examination revealed the existence of 4 tumour areas in the RE with regression pattern, predominantly calcified in the nasal and inferotemporal sectors, as well as multiple vitreous seedings and full retina detachment (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A and B). In turn, the opposite eye exhibited inferonasal neoplastic locus with mixed regression pattern, associated to diffuse subretinal seedings throughout the posterior pole (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>C and D). Electroretinogram showed severe compromise of both eyes. It was agreed to administer 3 new cycles of chemotherapy but, due to poor response, it was decided to enucleate the RE and treat the fellow eye with external radiotherapy. The anatomopathological study of the surgical product confirmed the retinoblastoma diagnostic, without invasion of the optic nerve, uveal tract or extraocular tissue.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">After 3 years of symptomatic stability and without evidencing clinic or radiological progression, the patient consulted due to tumefaction and erythema predominantly in the upper RE eyelid. Nuclear magnetic resonance revealed the existence of a mass in the anterior and superolateral region of the right orbit, without compromising the orbital roof (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>A). Taking into account the suspicion of possible orbital retinoblastoma relapse, the lesion was biopsied on 2 occasions (the first result was not conclusive), evidencing myofibroblastic proliferation without atypia, with discrete unspecific chronic inflammatory infiltrate, hemosiderophages and giant cell response. Immunohistochemical analysis discarded retinoblastoma relapse, orbital inflammatory pseudotumour (IgG4 negative), inflammatory tumour myofibroblastic tumour (ALK negative) and histiocytosis (S100 and CD1a negative).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">However, nuclear magnetic resonance taken one month later evidenced growth of the lesion towards the anterior cranial fossa, leaving a mark at the inferior region of the right frontal lobe, being described as a well-defined polyobulated tumour with intra-lesion levels compatible with hematic content.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Finally, after complete exeresis through neurosurgical approach, the anatomopathological diagnostic of giant cell bone tumour was arrived at. Post-surgery did not produce events and to date the patient remains without signs of relapse (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>B and C).</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0035" class="elsevierStylePara elsevierViewall">Orbital retinoblastoma relapse after enucleation is an infrequent complication, comprising 5–9.5% of cases according to different series. These patients exhibit poor prognosis, reaching a mortality rate of 90–100% when the biopsy confirms the disease.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> However, this was our initial suspicion. Accordingly, and due to the repercussion of this possible relapse on survival, the anatomopathological study of the lesion was carried out without delay.</p><p id="par0040" class="elsevierStylePara elsevierViewall">An additional factor to be considered in similar cases is the heterozygote mutation in exon 20 of the RB1 gene, of which the patient was a carrier. This type of mutation predisposes to the development of retinoblastoma as well as other extraocular tumours, mainly osteosarcoma, followed by melanoma, brain tumour, fibrosarcoma and chondrosarcoma.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Similarly, the potential cancerigenous effect of radiotherapy treatment must also be taken into account. The literature describes cases of patients with retinoblastoma diagnostic treated with radiotherapy who subsequently develop second tumours in the irradiated fields, particularly sarcoma.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> Generally accepted criteria for diagnostic of a radio-induced tumour were proposed by Cahan et al.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> These are the following: location within the irradiated zone, latency period of at least 10 years for solid tumours, exclusion of metastases or recurrence of primary tumour and exclusion of a second primary tumour. In the present case, the lesion appeared in the right orbit whereas the left had been irradiated, for which reason radiotherapy was discarded as possible aetiology.</p><p id="par0050" class="elsevierStylePara elsevierViewall">On the other hand, primary bone tumours constitute between 0.6% and 2% of orbital neoplasia.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> Among these, the giant cell tumour is extremely rare.<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">7,8</span></a> The usual location is in long bone epiphysis and expresses with osteolysis and tends to relapse unless completely resected. Despite being locally aggressive, it is regarded as a benign tumour. However, the literature comprises cases of malignization of this type of tumour, making it necessary to maintain a close follow-up despite resection.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The differential diagnostic of giant cell tumours includes all bone lesions comprising multinucleated giant cells and exhibiting a similar radiological pattern. Due to its great similarity in imaging tests, the aneurysmatic bone cyst is worthy of note. This is a benign lesion with cystic appearance as its name implies that mainly originates in the metaphysis of long bones. Despite its rarity, the literature describes cases of orbital involvement in children.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">In summary, despite extremely low incidence, giant cell bone tumour should be considered in the differential diagnostic of orbital neoplasia, particularly in children with hereditary retinoblastoma and mutation of the RB1 gene as in the present case, which is the first described with said characteristics</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of interests</span><p id="par0065" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres1173021" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1097156" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1173022" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1097155" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinic case report" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interests" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2018-06-13" "fechaAceptado" => "2018-10-09" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1097156" "palabras" => array:3 [ 0 => "Giant cell tumour of bone" 1 => "Retinoblastoma" 2 => "Orbit" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1097155" "palabras" => array:3 [ 0 => "Tumor óseo de células gigantes" 1 => "Retinoblastoma" 2 => "Órbita" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A case is presented of a 5 year-old patient with bilateral hereditary retinoblastoma treated with radiotherapy in the right eye and enucleation of the left eye. After three years without evidence of progression, the patient presented with a right orbital mass that compromised the frontal bone. After surgical excision, the histology analysis was consistent with a diagnosis of giant cell tumour.</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Primary orbital bone neoplasms, such as giant cell tumours, are extremely rare. Both radiological and histopathology studies are essential to establish the differential diagnosis of orbital mass lesions.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Paciente de 5 años de edad con diagnóstico de retinoblastoma hereditario bilateral tratada con radioterapia en el ojo izquierdo (OS) y enucleación del ojo derecho (OD). Después de 3 años sin evidencia de progresión presenta una nueva masa tumoral en la órbita derecha, con compromiso del techo, cuyo diagnóstico anatomopatológico tras su exéresis mediante abordaje neuroquirúrgico resultó ser de tumor óseo de células gigantes.</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Los tumores óseos primarios de la órbita como el tumor de células gigantes son una entidad poco frecuente. Los estudios radiológicos y anatomopatológicos resultan esenciales para establecer el diagnóstico diferencial de las lesiones que asientan en la órbita.</p></span>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Llavero-Valero P, Garrido-Hermosilla AM, Díaz-Ruiz MC, García Aldana D, Fernández-Teijeiro Álvarez A, Espejo-Arjona F. Tumor óseo de células gigantes en techo orbitario de paciente con retinoblastoma bilateral. Arch Soc Esp Oftalmol. 2019;94:200–203.</p>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1598 "Ancho" => 1600 "Tamanyo" => 271600 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Tumour seen through RetCam3 (Clarity Medical Systems, Inc., Pleasanton, CA, USA) upon arrival to the authors’ hospital. (A and B) RE: large tumour concentrations with type I regression pattern (predominant calcification) and diffuse vitreous seeding. (C and D) LE: tumour area occupying the entire inferonasal quadrant with multiple subretinal seedings and diffuse in posterior pole, including the macula.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1600 "Ancho" => 1600 "Tamanyo" => 225134 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Pre- and postoperative nuclear magnetic resonance images. (A) Sagittal section of right orbit evidencing superolateral mass with interruption in the orbital roof. 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