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 maligno rabdoide primitivo de maxilar inferior / Primitive malignant rhabdoid tumor of the mandible

El término tumor rabdoide fue utilizado en un comienzo para neoplasias renales con inclusiones citoplasmáticashialinas, que corresponden ultraestructuralmente a filamentos intermedios. Inicialmente descrito en 1978 como una variante rabdosarcomatoide del tumor de Wilms, separándose tres años después por presentar diferencias clinicopatológicas.Después de la descripción clinicohistológica del tumor rabdoide a nivel renal se han descrito tumoresmorfológicamente idénticos en tejidos blandos y órganos. La cavidad oral no es la excepción y han aparecido informes de carcinoma escamocelular con fenotipos rabdoides orales documentados en el año 1996.Se informa este caso debido a su rareza y su origen primario en el maxilar inferior.

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, medulloblastoma 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 clinical-pathological 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.

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.

[Meningioma with rhabdoid transformation: case report]. / Meningioma com transformação rabdóide: relato de caso.

Meningiomas represent aproximatelly 30% of all intracranial tumors in autopsy studies. With an incidence of 2.3 per 100000, they are considered commom tumors in clinical practice. Twenty percent of the all intracranial tumors diagnosed in vivo are meningiomas. Most of these lesions are benign and the prognosis is intimatelly related to acessibility and ressectability of the lesion. Malignant meningiomas are rare lesions, representing between 1 to 11% of all meningiomas, varying with the definition of pathological criteria for malignancy used, and are categorized in atypical or malignant. Only recently rhabdoid transformation of meningiomas have been reported. We present a case of an extremelly aggressive rhabdoid meningioma in a 56 year-old woman. The tumor was surgically removed twice, with a lethal outcome due to local recurrence, despite maximum radiation and quimiotherapy, six months after the initial presentation.

Stereotactically-guided biopsies of brainstem tumors.

INTRODUCTION: More than 10 years ago, the goal of our work had been to obtain a tissue sample of infiltrating lesions of the brainstem that had been diagnosed using computerized axial tomography (CAT). At that time, biopsies were believed to be indispensable when starting treatment of tumors. With time our objectives changed. Biopsies remained necessary, since until 1 year before the writing of this article we had not had the benefits of magnetic resonance imaging (MRI) at our Hospital. We also decided that carrying out sound statistics, confirmed by biopsies, was in itself a good procedure, especially in a country in which, to date, no serial studies of brainstem tumors had been undertaken. METHODS: We analyzed all of the patients diagnosed with posterior fossa tumors between March 1989 and March 2002 at the Hospital Infantil de México Federico Gómez (HIM). A preoperative TAC of the cranium was performed on every patient. Stereotactically-guided biopsies during tomography allowed precise control of penetration. Material obtained was sent to the Department of Pathology for analysis. RESULTS: Fifty patients were diagnosed with infiltrating tumors of the brainstem: 30 cases of low-grade astrocytomas, 13 cases of high-grade astrocytomas, 2 cases of primitive neuroectodermic tumors, 2 cases of rhabdoid tumors, 1 case of ependymoma, and 2 patients had non-specified tumors. The most frequent symptoms and signs were ataxia and disturbances of the cranial nerves. There was no mortality caused by penetration, and follow-up studies of more than 5 years were carried out. DISCUSSION: The results from our series were similar to those in the literature. In our case, follow-up studies were undertaken for longer periods. In the first section of our work, we suggest the need for stereotactic biopsies in order to arrive at a precise diagnosis in environments in which MRI may be unavailable. CONCLUSION: At present, presumptive diagnosis of infiltrating brainstem lesions may be adequately undertaken with imaging methods, such as MRI. However, we believe that a stereotactically-guided biopsy provides an accurate method for diagnosing lesions of the brainstem. In our case, this procedure has been carried out entirely in the tomography room, without any complications of disease or mortality.

Tumor rabdoide-teratoide primario del sistema nervioso central de comportamiento benigno. Informe de un caso / Primary rabdoid-teratoid tumor of the central nervous system with benign behavior. Report of one case

Se presenta el caso de un tumor frontoparietal derecho de una adolescente de 13 años de edad, con características hostológicas e inmunohistoquímicas de tumor rabdoideoteratoide (TR), de localización frontoparietal derecha y con evolución neurológica durante 4 años, manifestada únicamente por monoparesia braquial izquierda de -1 hasta hoy. El tumor primario de S.N.C. es patológicamente idéntico al tumor rabdoide maligno de riñón, tiene el comportamiento clinicopatológico de un sarcoma de alta malignidad y en los niños (edad de mayor presentación) se caracteriza por su gran agresividad a corto plazo, con recurrencia frecuente, y progresión rápida a la muerte, independientemente del tratamiento instituido. Nosostros reportamos un caso, que se ha comportado como una neoplasia benigna, expresada fenotípicamente como tumor rabdoide extrarrenal