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.

Tumor rabdoide/teratoide atípico del sistema nervioso central. Presentación de un caso / Atypical teratoid/rhabdoid tumor of the central nervous system. Case report

Reportamos un caso de tumor rabdoide/teratoide atípico del sistema nervioso central (SNC) en un paciente de sexo masculino, de 20 años de edad, que se encontraba en tratamiento médico desde hacía seis años por diagnóstico de epilepsia. Concurrió a nuestro hospital para realizarse una resonancia magnética (RM), en la cual se visualizó una lesión lobulada de 10 cm de diámetro máximo en la línea media de la región frontal. Los tumores rabdoides/teratoides atípicos del sistema nervioso central son infrecuentes y sólo unos pocos casos fueron reportados en pacientes adultos.

Atypical teratoid/rhabdoid tumor of the central nervous system. Case report. We report a case of atypical teratoid/ rhabdoid tumor of the central nervous system in a 20 year-old male, who was under treatment for epilepsy since six years ago. The patient presented at our hospital for magnetic resonance imaging (MRI), which demonstrated a midline lobulated frontal lesion with a maximum diameter of 10 cm.Atypical teratoid/rhabdoid tumors of the central nervous system are infrequent and only a few cases have been reported in adult patients.

Atypical teratoid/rhabdoid tumor of the brain? A case with three secondary implants / Tumor rabdoide/teratoide atípico de encéfalo? um caso com três implantes secundários

Atypical teratoid/rhabdoid (AT/RT) of the brain is a rare malignant pediatric neoplasm that usually affects children around age two. This report is about a male patient, six months of age, who presented with seizures and decreased level of consciousness, progressing to numbness, oculomotor nerve palsy and tetra-spasticity. CT scan showed left cerebellopontine angle tumor. Magnetic resonance imaging (MRI) showed a solid lesion, hypointense on T1W and heterogeneous hyperintense on T2W, enhanced after contrast infusion, accompanied by three solid lesions, rounded and irregular in the left cerebellar hemisphere, occipito-parietal transition and right occipital lobe with no evidence of leptomeningeal spread, forming secondary implants. We conducted a biopsy, which confirmed AT/RT. Chemotherapic treatment was ineffective and the patient passed away quickly. In the literature review we found about 300 cases reported, as it is, therefore, extremely rare tumor with a mean age at diagnosis of 29 months. It can affect any area of the central nervous system, mainly infratentorial, being its main differential diagnosis medulloblastomas. The findings of secondary implantation without leptomeningeal spread seen in this patient are described in only one other case in literature. The clinical features usually are neurological deficits, seizures and coma. Its genesis stems from mutations in the gene hSNF5/INI1 on chromosome 22. Neuroimaging studies don?t reveal radiological pattern suggesting AT/RT and the diagnosis is possible only through a biopsy with immunohistochemical analysis. The available treatments are ineffective, and death is the outcome, with 84% in six months.

Tumor rabdoide/teratoide atípico de encéfalo ? um caso com três implantes secundários O tumor rabdoide/teratoide atípico (AT/RT) do encéfalo é uma neoplasia pediátrica maligna rara que acomete geralmente crianças ao redor dos dois anos. O caso descrito é de um paciente masculino, de seis meses de idade, que apresentou convulsões e diminuição do nível de consciência, evoluindo com torpor, paralisia do nervo oculomotor e tetraespasticidade. Exame de tomografia evidenciou neoplasia do ângulo ponto-cerebelar esquerdo. A ressonância magnética (RNM) demonstrou lesão sólida, hipointensa em T1, e heterogênea e hiperintensa em T2, realçada após contraste, acompanhada de três lesões sólidas, arredondadas e irregulares no hemisfério cerebelar esquerdo, transição occipito-parietal direita e lobo occipital direito, sem sinais de disseminação leptomeníngea, constituindo implantes secundários. Realizou-se então uma biópsia, que confirmou AT/RT. O tratamento realizado por meio de quimioterapia foi ineficaz e o óbito ocorreu rapidamente. Na revisão de literatura encontramos pouco mais de 300 casos descritos, tratando-se, portanto, de neoplasia extremamente rara, com média de idade ao diagnóstico de 29 meses. Pode acometer qualquer área do sistema nervoso central, com predomínio infratentorial, sendo seu principal diagnóstico diferencial os meduloblastomas. Os achados de implantação secundária sem disseminação leptomeníngea encontrados neste paciente são descritos em apenas um outro caso na literatura. O quadro clínico costuma cursar com déficits neurológicos, convulsões e coma. Sua gênese decorre de mutações no gene hSNF5/INI1 do cromossomo 22. As neuroimagens não revelam padrão específico, sendo o diagnóstico possível somente mediante biópsia com análise imuno-histoquímica. Os tratamentos disponíveis são ineficazes, e o óbito constitui a via final, ocorrendo 84% destes nos primeiros seis meses.

Rhabdoid choroid plexus carcinoma: a rare histological type

Primary central nervous system atypical teratoid/rhabdoid tumors mostly occur during early childhood and are almost invariably fatal. These tumors show similar histological and radiological features to primitive neuroectodermal tumor, meduloblastoma and choroid plexus carcinoma, but present different biological behaviors. We present the case of an 18 year-old man who presented headache, vomiting and ataxia. CT-scan and MRI revealed a posterior fossa tumor. A gross total resection was performed. An intraoperative study showed papillary-like tumors with large cells and mitotic features. Histological examination showed two different main growth patterns: solid sheets of undifferentiated polygonal cells with papillary features and rhabdoid cells. Immunohistochemically, these rhabdoid cells were positive for vimentin, epithelial membrane antigen, smooth-muscle actin, cytokeratin, S-100 protein, and glial fibrillary acidic protein. Electro-microscopically, the typical rhabdoid cells contained whorled bundles of intermediate filaments in their cytoplasm. A rhabdoid tumor is a clinicalpathological entity and emphasizes the necessity to distinguish this unique tumor from other pediatric central nervous system neoplasms. Cytopathological features, immunohistochemistry and electro-microscopy differential diagnoses are discussed.

Los tumores de tipo rabdoide primarios en cualquier sitio son raros y en el sistema nervioso central son extremadamente raros y ocurren principalmente en niños, el tumor teratoide/rabdoide es el tumor más frecuente dentro de este grupo y de evolución clínica fatal. El tumor neuroectodermico primitivo, medulobalstoma y al carcinoma de plexos coroides son tumores generalmente muestran aspectos clínicos radiológicos e histológicos similares, con evolución diferente. Presentamos el caso de un hombre joven de 18 años que inició con cefalea vómitos y ataxia. La imagen de TC muestra tumor en fosa posterior. Se realizó resección total del tumor. En el estudio transoperatorio se observó neoplasia maligna de células grandes con mitosis y que formaba estructuras papilares. Histológicamente se observaron dos patrones diferentes, uno formado por nidos sólidos de células poligonales indiferenciadas con formación de estructuras papilares y el otro con abundantes células grandes de aspecto rabdoide. Por inmunohistoquímica las células de aspecto rabdoide fueron positivas para vimentina, antigeno de membrana epitelial, actina de músculo liso, citoqueratina, y proteína S-100, La PGAF fue focalmente positiva. Se realizó microscopía electrónica de las células rabdoides que mostraban nidos irregulares de filamentos intermedios intracitoplasmicos y lamina basal. El tumor rabdoide cerebral es clínica como histológicamente una rara entidad en la población pediátrica. Se discute el aspecto citopatológicas de inmunohistoquímica y de microscopia electrónica y sus diagnósticos diferenciales.