Embryonal tumors in the WHO CNS5 classification: A Review

Embryonal tumors are a heterogenous group of neoplasms mostly defined by recurrent genetic driver events. They have been, previously, broadly classified as either medulloblastoma or supratentorial primitive neuroectodermal tumors (PNETs). However, the application of DNA methylation/gene expression profiling in large series of neoplasms histologically defined as PNET, revealed tumors, which showed genetic events associated with glial tumors. These findings led to the definitive removal of the term “PNET” in the 2016 World Health Organization (WHO) classification of CNS tumors. Moreover, further studies on a large scale of methylation profiling have allowed the identification of new molecular-defined entities and have largely influenced the 5th edition of the WHO classification of CNS tumors (WHO CNS5) for both medulloblastomas and other CNS embryonal tumors. The importance of molecular characteristics in CNS embryonal tumors is well represented by the identification of different molecular groups and subgroups in medulloblastoma. So, in the CNS5, the emerged group 3 and group 4 belong to the classification, and the four molecular and morphologic types are now combined into a unique section. Among other embryonal tumors, two new recognized entities are introduced in CNS5: CNS neuroblastoma, FOXR2-activated, and CNS tumor with BCOR internal tandem duplication (ITD). Embryonal tumor with multilayered rosettes (ETMR), already present in the previous classification now has a revised nomenclature as a result of the new DICER1 alteration, additional to the formerly known C19MC. Regarding atypical teratoid/rhabdoid tumor (AT/RT), three molecular subgroups are recognized in CNS5. The combination of histopathological and molecular features reflects the complexity of all these tumors and gives critical information in terms of prognosis and therapy. This encourages the use of a layered diagnostic report with the integrated diagnosis at the top, succeeded by layers including the histological, molecular, and other essential details.

Intraocular medulloepithelioma – A review of clinical features, DICER 1 mutation, and management

Intraocular medulloepithelioma is a nonhereditary neoplasm of childhood arising from primitive medullary epithelium. It most often involves the ciliary body. Most patients present between 2 and 10 years of age with loss of vision, pain, leucocoria, or conjunctival congestion. The mass appears as a grey-white ciliary body lesion with intratumoral cysts. Presence of a neoplastic cyclitic membrane with extension to retrolental region is characteristic. Secondary manifestations like cataract and neovascular glaucoma may be present in up to 50% and 60% patients, respectively. These could be the first signs for which, unfortunately, about 50% patients undergo surgery before recognition of the hidden tumor. Systemic correlation with pleuropulmonary blastoma (DICER1 gene) has been documented in 5% cases. Histopathology shows primitive neuroepithelial cells arranged as cords closely resembling the primitive retina. Histopathologically, the tumor is classified as teratoid (containing heteroplastic elements) and nonteratoid (containing medullary epithelial elements), each of which are further subclassified as benign or malignant. Retinoblastoma-like and sarcoma-like areas may be seen within the tissue. The treatment modality depends on tumor size and extent of invasion. For small localized tumors (?3-4 clock hours), conservative treatments with cryotherapy, plaque radiotherapy, or partial lamellar sclerouvectomy (PLSU) have been used. Plaque brachytherapy is generally preferred for best tumor control. Advanced and extensive tumors require enucleation. Rare use of intra-arterial and intravitreal chemotherapy has been employed. Systemic prognosis is favorable, but those with extraocular extension and orbital involvement show risk for local recurrence and metastatic disease, which can lead to death.

Clinicopatholoical Spectrum Of Embryonal Brain Tumors And Their Prognostic Significance – A Three Years Institutional Study At A Tertiary Care Hospital In South India

BACKGROUND:Central nervous system tumors constitute second most common paediatric cancers.Emyonal tumors are neoplasms of immature cells resembling primitive neuroepithelium.All are similarly aggressive and have a tendency to disseminate throughout CNS.Therefore identification of specific subtype helps in prognosis evaluation,to avoid unnecessary treatment related neurotoxicity and further treatment implications. METHODS: This is a retrospective study conducted at The Department of neuropathology, Institute of neurosurgery MMC/RGGGH from January 2015 to December 2017.A total of 34 cases of Emyonal tumors were reviewed during this period.Among which Medulloblastoma was reclassified histopathologically based upon the World Health Organisation 2016 classification of CNS tumors.Data on clinical presentation and radiological features of all cases were collected from patients records.In all cases gross features were recorded during grossing of the resected tumors.The tissue sections were processed and stained as per standard protocols. IHC markers were done in deserving cases .Age predilection,Sex Predilection,Tumor location,Comparison with squash and Histological grade in relation to age of emyonal tumors studied. RESULTS:Out of 1422 cases evaluated in adults emyonal tumors comprised 0.21%(3 cases).Out of 150 cases evaluated in chidren aged 16 years emyonal tumors comprised 20.6%(31 cases).Sex ratio(males to females) 2:1 males outnumbering females.94.11%(32 cases) of emyonal tumors presented as posterior fossa tumors,2.94%(1 case) presented as hypothalamic SOL,2.94%(1 case) presented with multiple lesions in spine and cranium–This was a rare case of Atypical Teratoid /Rhabdoid tumor presented with drop metastasis.5.88%(2 cases) presented as recurrent tumors.82.3%(28 cases) presented histologically as classic medulloblastomas,2.94%(1 case) presented as Anaplastic/Large cell type, 2.94%(1 case) presented as Desmoplastic type,11.76%(4 cases) presented as Atypical Teratoid/Rhabdoid tumor.Most commonly affected age group is 6–10 years comprising 50%(17 cases),20.5%(7 cases) affecting 0–5 years, 20.5%(7 cases) affecting 11–16 years. CONCLUSION:Emyonal tumors are highly malignant tumors affecting children from early infancy to adolescence .Because of efforts to avoid craniospinal irradiation in an attempt to lessen treatment related neurotoxicity,diagnosis and management is very important.

Atypical Teratoid/Rhabdoid Tumor Presenting as a Cutaneous Lesion: A Case Report / 대한피부과학회지

An atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignancy occurring in the first few years of life. This tumor shows rapid growth, a poor response to treatment, and poor prognosis. Cutaneous metastases presents as hamartomatous lesions mimicking skin tags. Immunohistochemical examination shows varied patterns of expression based on the sites of the body affected. Integrase interactor-1 (INI-1) gene sequencing and loss of expression of INI-1 observed with immunostaining can confirm AT/RT. In our patient, the skin lesion was identified at birth. Histopathological examination of the skin lesion could not establish an accurate diagnosis. Two months later, the patient presented with a brain tumor. Immunohistochemical examination of the brain lesion revealed complete loss of INI-1 expression in tumor cells, and the lesion was diagnosed as AT/RT. After that, we can detect the loss of INI-1 expression in the skin on the back. We report a rare case of AT/RT affecting the brain with cutaneous metastasis diagnosed with immunohistochemical staining.

Supratentorial Atypical Rhabdoid Teratoid Tumor ­ A Case Report

Atypical rhabdoid teratoid tumors (ARTTs) are rare embryonic tumors, usually localized in the posterior fossa and diagnosed in children under 3 years-old. The treatment includes surgical resection, radio and chemotherapy, and the prognostic is unfavorable, with an average median survival of 1 year. We present the case of a 3-year-old patient, with history of headache and vomiting, followed by absence seizures, temporal automatism, syncope accompanied by sialorrhea and sphincteric loss succeeded by a postictal period. Surgical excision was performed and the anatomopathological study confirmed ARTT. The ARTTs are embryonic tumors, a category in which medulloblastoma and primitive neuroectodermal tumors (PNETs) represent the most common central nervous system (CNS) malignancies in childhood.

Tumores teratóides rabdóides atípicos (TTRA) são tumores embrionários raros, geralmente localizados na fossa posterior e diagnosticados em crianças com menos de 3 anos de idade. O tratamento inclui ressecção cirúrgica, radio e quimioterapia. Contudo, o prognóstico é desfavorável, com uma sobrevida média de 1 ano. Apresentamos o caso de um paciente de 3 anos de idade, com quadro de cefaléia e vômitos, companhados por automatismo temporal e perda de consciência, seguidos por período pós-ictal. A ressonância nuclear magnética (RNM) do encéfalo evidenciou lesão frontal compatível com tumor intra-axial, efeito de massa local e invasão do corpo caloso. Foi realizada excisão cirúrgica, e o estudo anatômico-patológico confirmou TTRA. Os TTRA são tumores embrionários, categoria na qual o meduloblastoma e os tumores neuroectodermais primitivos representam as malignidades mais comuns no sistema nervoso central de crianças.

Malignant Brain Tumours in Children : Present and Future Perspectives

In contrast to many of the malignant tumors that occur in the central nervous system in adults, the management, responses to therapy, and future perspectives of children with malignant lesions of the brain hold considerable promise. Within the past 5 years, remarkable progress has been made with our understanding of the basic biology of the molecular genetics of several pediatric malignant brain tumors including medulloblastoma, ependymoma, atypical teratoid rhabdoid tumour, and high grade glioma/diffuse intrinsic pontine glioma. The recent literature in pediatric neuro-oncology was reviewed, and a summary of the major findings are presented. Meaningful sub-classifications of these tumors have arisen, placing children into discrete categories of disease with requirements for targeted therapy. While the mainstay of therapy these past 30 years has been a combination of central nervous system irradiation and conventional chemotherapy, now with the advent of high resolution genetic mapping, targeted therapies have emerged, and less emphasis is being placed on craniospinal irradiation. In this article, the present and future perspective of pediatric brain malignancy are reviewed in detail. The progress that has been made offers significant hope for the future for patients with these tumours.

Malignant Brain Tumours in Children : Present and Future Perspectives

In contrast to many of the malignant tumors that occur in the central nervous system in adults, the management, responses to therapy, and future perspectives of children with malignant lesions of the brain hold considerable promise. Within the past 5 years, remarkable progress has been made with our understanding of the basic biology of the molecular genetics of several pediatric malignant brain tumors including medulloblastoma, ependymoma, atypical teratoid rhabdoid tumour, and high grade glioma/diffuse intrinsic pontine glioma. The recent literature in pediatric neuro-oncology was reviewed, and a summary of the major findings are presented. Meaningful sub-classifications of these tumors have arisen, placing children into discrete categories of disease with requirements for targeted therapy. While the mainstay of therapy these past 30 years has been a combination of central nervous system irradiation and conventional chemotherapy, now with the advent of high resolution genetic mapping, targeted therapies have emerged, and less emphasis is being placed on craniospinal irradiation. In this article, the present and future perspective of pediatric brain malignancy are reviewed in detail. The progress that has been made offers significant hope for the future for patients with these tumours.

Quiste teratoide sublingual. Reporte de un caso / Sublingual teratoid cyst. A case report

Resumen Antecedentes: Los quistes dermoides en el piso de la boca son lesiones que se observan raramente,y se presentan como masas de lento crecimiento causadas por atrapamiento de tejido ectodérmico en la línea media y en la línea de fusión embrionaria de los procesos faciales. Reporte del caso: Varón de 2 años de edad con aumento de volumen sublinqual proqresivo desde el nacimiento, a la exploración con tumor a nivel del piso de la boca de aproximadamente 3 X 4 cm que desplaza la lenqua hacia arriba, blanda, no dolorosa. Se realizó resección quirúrqica de la lesión, y se confirmó quiste teratoide mediante el reporte histopatológico. Conclusión: Los quistes dermoides se caracterizan por su beniqnidad, así como por un lento crecimiento; sin embargo, se recomienda la resección quirúrgica como tratamiento de elección, cuya técnica dependerá de su posición anatómica. Debido a la variedad de patologías en la zona es importante realizar un adecuado diagnóstico diferencial.

Abstract Background: Dermoid cysts at the floor of the mouth are rarely observed lesions; they appear as slow growth masses caused by entrapment of ectodermal tissue at the midline and the embryonic fusion line of the facial processes. Case report: A two-year-old male presents sublingual growth of increasing volume from birth, at the time of the clinica examination corresponds to a soft, non-tender, 3 X 4 cm tսmor at the floor of the mouth that is displacing the tongue upwards. The patient underwent surgical resection of the lesion. A histopathologic report confirmed a teratoid cyst. Conclusion: Dermoid cysts are characterized by their benign characteristics and slowgrowth. However, surgical resection is recommended as the treatment of choice. The surgica technique depends on its anatomical position. It is important to make a proper differential diagnosis due to the different kinds of pathologies in this region.

Imaging findings of atypical teratoid/rhabdoid tumor of central nervous system with clinical correlation / 中华放射学杂志

Objective To evaluate the imaging characteristics of atypical teratoid/rhab doid tumor (AT/RT) of central nervous system(CNS), and to improve the diagnostic ability of the disease. Methods The clinical and imaging findings of 9 patients were retrospectively analyzed. There were 5 male and 4 female, ages 7 months to 5 years,median age was 1.4 years. MR enhancement studies were obtained in all the cases. One case had CT enhancement examination. Results The lesions were seen in brain in 8 cases and in lumbosacral spinal cord in one case. The tumors size varied from 4.8—7.8 cm, Necrosis was seen in nine cases, cystic change in eight cases and hemorrhage in five cases. The tumors had high signal on DWI, and low signal on ADC map. Dura matter invasion(2 cases), cerebrospinal fluid spread(2 cases)and intracerebral metastasis were seen. Conclusion There are some relatively specific imaging findings of primary CNS AT/RT that could assist their diagnosis.

Tumor rabdoide teratoide en paciente pediátrico: reporte de caso / Teratoid rhabdoid tumor in pediatric patient: case report

El tumor Rabdoide/Teratoide atípico (AT/RT) representa un subtipo tumoral primario de sistema nervioso central bastante raro, con un alto grado de malignidad y de pobre pronóstico (grado IV según OMS) encontrándose principalmente en niños menores de 3 años sin antecedentes de importancia y con cuadros clínicos bastante insidiosos que representa un reto en cuanto al diagnóstico y tratamiento teniendo en cuenta la limitada cantidad de casos reportados a nivel mundial, así como poca literatura disponible. Presentamos el caso de una paciente femenina de 23 meses de edad quien ingresa al servicio de urgencias del Hospital Militar Central (Bogotá, Colombia) en coma con midriasis izquierda, deshidratación grado 2, con escanografía cerebral simple de ingreso donde se observa lesión ligeramente isodensa fronto parieto occipital izquierda con sangrado intralesional que ejerce importante efecto de masa desplazando la línea media 22 mm y produce herniación del uncus, paraclínicos que reportan anemia, trombocitopenia y tiempos de coagulación prolongados, por lo cual se decide ingresar a salas de cirugía como urgencia vital realizando resección de lesión macroscópica de aspecto grisáceo, muy vascularizada, similar al tejido cerebral con sangrado fácil y muy difícil de controlar. 72 horas después requiere nueva intervención quirúrgica por inestabilidad hemodinámica durante el postoperatorio encontrando lesión de similares características, se envían muestras a patología reportando diagnóstico patológico definitivo: tumor Teratoide Rabdoide atípico grado IV OMS.

Atypical teratoid rhabdoid tumor (AT/RT) represents a subtype of malignant CNS neoplasms quite rare, with a high degree of malignancy and poor prognosis (WHO grade IV) found mainly in children younger than 3 years old without medical history of diseases and with Clinical characteristics quite insidious that represents a challenge in the diagnosis and treatment taking into account the limited number of cases reported, as well as little literature available. We report a 23 months of age female who is admitted to the emergency room of the Central Military Hospital (Bogotá, Colombia) in coma with mydriasis, dehydration, In the cranial scan showed injury slightly isodensa fronto-parieto-occipital left with intralesional bleeding that exerts important mass effect by moving the Midline of the brain 22 mm and produces herniation of the uncus, paraclinical reported anemia, thrombocytopenia and prolonged coagulation times, by which it decides to enter rooms for surgery making resection of macroscopic lesion of grayish look, highly vascularized, similar to the brain tissue with easy bleeding and very difficult to control. 72 hours after requires new surgical intervention for hemodynamic instability during the postoperative period finding similar lesion characteristics, samples are sent to Pathology reporting final pathological diagnosis: tumor atypical Teratoid Rhabdoid WHO grade IV by OMS.

Giant epignathus of the palate: a case report / Epignathus gigante do palato: relato de caso

ABSTRACTEpignathi are congenital malformations, with a high level of mortality due to their obstructive mechanism and respiratory involvement. Most of them are benign; however, cases of malignant epignathus have been described. The possibilities of malignancy increase in the presence of neuroepithelium, an important confounding factor. Epignathus is described in a newborn, besides its clinical and histopathological study. Surgery with complete resection is the definitive treatment. Residual tissue is linked to recurrence, curiously without increasing the risk of malignancy.

RESUMOEpignathus é um tipo de malformações raras, com elevado índice de mortalidade devido ao comprometimento respiratório por mecanismos obstrutivos. Na maioria dos casos, é benigno; entretanto, casos de epignathus maligno já foram descritos. A presença de neuroepitélio é um fator que aumenta a possibilidade de malignidade e pode confundir o diagnóstico. Descreve-se um epignathus em neonato, além de seu estudo clínico e histopatológico. O tratamento definitivo é a ressecção cirúrgica completa; focos residuais associam-se à recidiva, sem necessariamente aumentar o risco de malignidade.

Atypical Teratoid Rhabdoid Tumor in a Child: Case Report / Tumor teratóide rabdóide atípico emuma criança: relato de caso

Atypical teratoid/rhabdoid tumor (ATRT) is a rare and aggressive type of embryonal tumor of the central nervous system (CNS) occurring in childhood. The present study aims to describe the case of a 16-year-old girl who presented with an occipital mass lesion that was diagnosed as ATRT.We present a brief review of the current knowledge of the treatment of this rare neoplasm. A previously healthy 16-year-old girl was referred after two episodes of partial complex seizure 2 weeks before admission. MRI showed a right parieto-occipital lesion with homogeneous contrast-enhancing and significant surrounding brain edema. The patient underwent uneventful surgical resection of the lesion and was discharged home on the fifth postoperative day. Pathologic examination revealed it to be ATRT. The patient was referred to chemotherapy and radiotherapy. After 6 months of follow-up, the patient remains free of seizure and disease progression. ATRT is a rare and aggressive disease. Therefore, early diagnosis and treatment may improve the patient's prognosis and quality of life.

O tumor teratoide rabdoide atípico (TTRA) é um tipo de neoplasia rara, com comportamento maligno, que atinge o sistema nervoso central (SNC) de crianças. O objetivo do presente estudo é relatar o caso de uma paciente de 16 anos de idade admitida no nosso serviço com uma lesão occipital que revelou tratar-se de TTRA em estudo anatomopatológico. Uma paciente previamente hígida foi admitida no nosso serviço referindo ocorrência de dois episódios de crises convulsivas nas últimas 2 semanas. A ressonância magnética de crânio mostrou a presença de lesão occipital direita com captação homogênea do meio de contraste. A paciente foi submetida a cirurgia de ressecção da lesão expansiva sem intercorrências. A análise histopatológica e imuno-histoquímica revelou tratar-se de TTRA. A paciente foi encaminhada para a realização de quimioterapia e radioterapia complementares ao tratamento cirúrgico. Após 6 meses de seguimento ambulatorial, a paciente encontra-se assintomática, sem recorrência das crises convulsivas e/ou progressão radiológica da doença. TTRA é uma doença rara e agressiva. Com isso, diagnóstico e tratamento antecipados podem aprimorar prognóstico e qualidade de vida dos pacientes.

Rehabilitación protésica de órbita implantosoportada en paciente con secuela de meduloepitelioma teratoide maligno / Implant-supported orbit prosthetic rehabilitation in patient with malignant teratoid medulloepithelioma

La prótesis maxilofacial es «la especialidad odontológica que se dedica a la rehabilitación estética de las estructuras intraorales y extraorales por medios artificiales¼.¹ Una prótesis orbital es un dispositivo artificial que reemplaza la ausencia del ojo y sus anexos (párpados, pestañas y cejas). Ésta es una alternativa a la rehabilitación cuando la reconstrucción quirúrgica no sea viable, o se prefiere por el paciente. Hoy en día, con el avance de la investigación, podemos contar con el uso de los implantes de oseointegración, los cuales hasta el momento han evidenciado ser el medio de fijación óptimo en la rehabilitación protésica craneofacial. El caso clínico que se presenta corresponde a un paciente masculino con secuelas postquirúrgicas orbitofaciales de un carcinoma derivado del sistema nervioso central (meduloepitelioma teratoide maligno), que tiene como principal tratamiento la exenteración del globo ocular y áreas circunscritas que se encuentren afectadas, dejando un defecto orbitofacial, el cual se rehabilitó con una prótesis maxilofacial retenida por implantes integrados al hueso del reborde supraorbitario. El objetivo de este trabajo es dar a conocer el tipo de tratamiento integral que se da a un paciente con estos antecedentes, desde el diagnóstico de la afección, el tratamiento de la misma, así como la rehabilitación protésica del defecto resultante, con lo que se demuestra las ventajas del uso de implantes de oseointegración como medio de retención de la prótesis, y finalmente se observa cómo este tipo de rehabilitación incrementa la apariencia estética del paciente con secuelas quirúrgicas faciales, logrando su reintegración a la sociedad con más confianza y seguridad. Para lograr un tratamiento exitoso y brindarle al paciente el bienestar físico y mental, debemos trabajar en conjunto con un equipo multidisciplinario que resuelva el caso en su totalidad, para finalmente ofrecer los beneficios reales de la rehabilitación protésica con un medio de retención que ha sido, sin duda, una ventaja más que ofrecer para el paciente portador de la prótesis orbitaria. El uso de implantes ha tenido un gran impacto en estos pacientes, dándoles una favorable reintegración a la sociedad, disimulando sus defectos faciales y brindándoles comodidad y seguridad en el ejercicio de sus actividades cotidianas, sin el temor de un posible desprendimiento de su prótesis.

Maxillofacial prosthesis can be described as «the specialty in dental science devoted to the aesthetic rehabilitation by artificial means of intra-and extra-oral structures¼.¹ Orbit prostheses are artificial devices used to substitute the absence of the eye and annex structures (eyelids, lashes and eyebrows). They represent a rehabilitation alternative when surgical reconstruction is either unviable or not preferred by the patient. In our days, in the light of recent research advances, we can make use of bone-integrated implants. To this date they have proven to be the best fixation means in craniofacial prosthetic rehabilitation cases. The clinical case introduced in the present study is that of a male patient exhibiting postsurgical orbital-facial sequels after a carcinoma derived from the central nervous system (CNS) (malignant teratoid medulloepithelioma). Main treatment for this type of carcinoma is ocular globe and circumscribed affected areas exenteration. In this case, this procedure left an orbital-facial defect which was rehabilitated with a maxillofacial prosthesis, fixated to the supraorbital ridge by bone-integrated implants. The aim of the present study was to describe the comprehensive treatment administered to a patient exhibiting this kind of history, from the moment when the condition was diagnosed, its treatment, and the prosthetic rehabilitation of the resulting defect. This study shows the advantages obtained when using bone-integrated implants as a means for prosthesis retention. It is equally observed how this type of rehabilitation greatly improves the aesthetic appearance of patients afflicted with surgical facial sequels, thus achieving a more confident and self-assured reinsertion into society. In order to achieve successful treatment and offer mental and physical welfare to the patient we must work alongside a multi-disciplinary team, to comprehensively solve the case. We can then finally offer the real advantages of prosthetic rehabilitation with a retention means which has proved to be an additional advantage for patients wearing orbital prostheses. Implant usehas bornea great impact in these patients, fostering favorable reinsertion into society, since facial defects are dissimulated and patients can exhibit comfort and security in their day-to-day activities, without fear of a possible prosthesis displacement.

Imaging and pathological features of atypical teratoid/rhabdoid tumors in the central nervous system / 实用放射学杂志

Objective To investigate the imaging and pathological features of atypical teratoid/rhab doid tumor (AT/RT)occur-ring in the central nervous system (CNS).Methods The CT and MRI findings of 1 6 patients with CNS AT/RT were retrospectively analyzed,and their pathological and immunohistochemical results were studied.Results There were 12 males and 4 females. Tumors located is at supratentorial in 10 and infratentorial in 6.Cystic changes in tumors were noted in 12 cases.The solid portion of tumors was isointense on T2-weighted images relative to normal brain grey matter in 9 patients.Extensive peritumoral edema was observed in 1 1 lesions.The tumors showed bandlike rim of significant enhancement in 10 cases.The incidence of hemorrhage and calcification in tumors were 43.8% and 41.7% respectively.Histopathologically,AT/RT was characterized by the presence of rhab-doid cells associated with variable components of epithelial,primitive neuroectodermal and mesenchymal differentiation.Conclusion Atypical teratoid/rhabdoid tumor is several imaging findings which are relatively specific on CT and MR images.CT and MRI may provide valuable information for pre-operation diagnosis and prognostic evaluation in patients with CNS AT/RT.

Adult-Onset Sellar and Suprasellar Atypical Teratoid Rhabdoid Tumor Treated with a Multimodal Approach: A Case Report

We report a very rare case of sellar and suprasellar atypical teratoid rhabdoid tumor (ATRT) in a 42-year-old female patient. The tumor was removed subtotally with a transsphenoidal approach. Histopathologic study showed rhabdoid cells with prominent nucleoli and abundant cytoplasm. Immunohistochemistry for INI1 was completely negative in the tumor cells, consistent with ATRT. After surgery, she received radiotherapy including spinal irradiation with proton beam therapy and subsequent chemotherapy, with no evidence of recurrence for more than 2 years. Up to date, this is the 8th case of an adult-onset ATRT in the sellar or suprasellar region. Despite its rarity, ATRTs should be considered in the differential diagnosis of an unclear malignant sellar or suprasellar lesion in adult patients and the treatment strategies for adult ATRT patients could be differentiated from those of pediatric ATRT patients.

Struma ovarii maligno / Malignant Struma ovarii

O "Struma ovarii" é um tumor ginecológico raro, sendo de malignização e metástases incomuns. Constituído predominantemente por tecido tireoideano, apresenta maior incidência aos 50 anos. Apresentamos o caso de uma paciente de 41 anos com história prévia de teratoma tratado, que desenvolve dor pélvica e tumoração abdominal. Operada, concluiu-se tratar de "Struma ovarii" maligno com metástases. Após a radioablação com I-131, encontra-se sob controle clínico. Apesar de sua raridade, o "Struma ovarii" possui bom prognóstico, devendo ser lembrado no diagnóstico diferencial dos tumores ovarianos.

A Case of Medulloepithelioma Originating from the Retina

PURPOSE: To report a rare case of medulloepithelioma originating from the retina. CASE SUMMARY: A nine-year-old boy visited our clinic with conjunctival injection and decreased visual acuity in the left eye, which had developed two month previously. Slit lamp examination revealed a distorted pupil and an anteriorly protruding ciliary body displacing the peripheral iris toward the cornea on the inferonasal side. Funduscopic examination showed total retinal detachment accompanied by an inferior hypervascular mass. The examination of the right eye was unremarkable. On computer tomography imaging, a calcified mass was identified behind the iris of the left globe in the inferomedial aspect, and ultrasound biomicroscopy revealed a medium to high echogenic tumor with an uneven oval cystic cavity in the ciliary body. At the follow-up examination, the size of the mass was increased, so we performed enucleation of the left eye. Pathology demonstrated that the retrolental mass abutting the lens had arisen from the retina. Histological examination revealed that the tumor had originated from the retina and extended into the ciliary body, and most of the tumor was composed of hyaline cartilage with calicification. Tumor cells were identified in the periphery, forming elongated tubules and cord-like structures that were immunohistochemically positive for vimentin, neuron-specific enolase, and CD56 compatible with a teratoid medulloepithelioma. The patient was followed up for eight months without any metastasis in the orbit or elsewhere. CONCLUSIONS: Medulloepithelioma should be considered in the differential diagnosis of pediatric orbital mass accompanied by calcification.

Sinonasal teratoid carcinosarcoma

This is from a 76-year-old male with a fungating maxillary antral mass that extends into the nasal cavity. (Author)

Intracranial Atypical Teratoid/Rhabdoid Tumor: Retrospective Analysis in a Single Institution / 대한소아혈액종양학회지

PURPOSE: Intracranial atypical teratoid/rhabdoid tumor (ATRT) is an extremely rare and aggressive tumor of early childhood. In this study, we evaluated the clinical characteristics, therapeutic approaches and outcomes of children who were treated at Seoul National University Children's Hospital (SNUCH). METHODS: We reviewed the clinical records of seven patients who were diagnosed as ATRT at SNUCH between January 2000 and July 2005. RESULTS: Of the seven patients, three patients were male and four were female. Median age at diagnosis was 13 months ranging from 3 months to 67 months. The tumors occurred in the infratentorial area in six and at multiple sites in one patient. Metastatic disease at diagnosis was present in two patients. One showed cerebrospinal fluid (CSF) dissemination and the other showed bony metastasis. Tumor excision was performed in all patients, and with the exception of two cases that refused further treatment, five patients received postoperative chemotherpay. One patient with CSF dissemination received radiotherapy and intrathecal chemotherapy as well. Of all the patients who received chemotherapy, two patients died during treatment because of tumor progression. The chemotherapy regimen was changed in three patients during treatment because the tumor showed poor response to chemotherapy. The median length of follow-up for five patients receiving chemotherapy was 6 months and the overall survival (OS) and event free survival (EFS) were 33.3% and 0%, respectively. CONCLUSION: Though various therapeutic approaches have led to improved survival in ATRT, the prognosis of ATRT is dismal compared with other brain tumors. A precise pathologic diagnosis is crucial and intensified treatment modalities should be considered according to the extent of tumor. To establish optimal treatment guidelines, a cooperative prospective study is needed and the efficacy of individual regimens should be analyzed.