RESUMEN
Primary Ewing sarcoma/primitive neuroectodermal tumor is a group of rare aggressive tumors in adults derived from neuroectoderm, and primary renal involvement is extremely rare. We describe an F-FDG PET/CT findings of a 28-year-old man who presented with left renal mass with inferior vena cava thrombus, which turned out to be primary Ewing sarcoma on histopathology specimen post left nephrectomy.
Asunto(s)
Neoplasias Renales/diagnóstico por imagen , Tumores Neuroectodérmicos/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Sarcoma de Ewing/diagnóstico por imagen , Trombosis de la Vena/diagnóstico por imagen , Adulto , Fluorodesoxiglucosa F18 , Humanos , Neoplasias Renales/complicaciones , Masculino , Tumores Neuroectodérmicos/complicaciones , Radiofármacos , Sarcoma de Ewing/complicaciones , Vena Cava Inferior/diagnóstico por imagen , Vena Cava Inferior/patología , Trombosis de la Vena/complicacionesRESUMEN
A 21-year-old male visited our hospital with a complaint of aggravating dysphagia and odynophagia for a few days. Esophagogastroduodenoscopy showed huge bulging mucosa with an intact surface causing luminal narrowing at 35 cm from the incisor teeth. Endoscopic ultrasonography showed an about 35 mm sized irregular margined in-homogenous hypoechoic lesion with an obscure layer of origin. Endoscopic ultrasonography fine needle aspiration revealed spindle cell proliferation without immunoreactivity for CD117, SMA, and cytokeratin. The patient underwent excision of the subepithelial lesion at the distal esophagus. On pathologic examination of the specimen, the tumor was composed of short fascicles of oval to spindle cells with eosinophilic and clear cytoplasm and vesicular nuclei. The tumor cells were positive for S-100 and SOX10 and negative for CD117, SMA, HMB-45, melan-A, cytokeratin, and CD99. The split-apart signal was detected in EWSR1 on FISH, suggesting a malignant gastrointestinal neuroectodermal tumor. At the time of writing, the patient is on radiation therapy at the operated site of esophagus and doing well, with no recurrence for three months. Malignant gastrointestinal neuroectodermal tumor is a rare gastrointestinal tumor with features of clear cell sarcoma, without melanocytic differentiation, and shows a poor prognosis. This is the first reported case of malignant gastrointestinal neuroectodermal tumor arising as subepithelial lesion in the esophagus.
Asunto(s)
Neoplasias Esofágicas/patología , Esófago/patología , Tumores Neuroectodérmicos/patología , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Biopsia , Trastornos de Deglución/etiología , Endosonografía , Neoplasias Esofágicas/química , Neoplasias Esofágicas/complicaciones , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/cirugía , Esofagectomía , Esofagoscopía , Esófago/química , Esófago/fisiopatología , Esófago/cirugía , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Masculino , Membrana Mucosa/patología , Tumores Neuroectodérmicos/química , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/genética , Tumores Neuroectodérmicos/cirugía , Radioterapia Adyuvante , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Carga Tumoral , Adulto JovenAsunto(s)
Neoplasias Encefálicas/patología , Encéfalo/patología , Síndrome de Aspiración de Meconio/complicaciones , Tumores Neuroectodérmicos/patología , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/diagnóstico por imagen , Diabetes Insípida/diagnóstico , Diagnóstico Diferencial , Ecoencefalografía , Resultado Fatal , Humanos , Hipernatremia/etiología , Hipotensión/etiología , Recién Nacido , Letargia/etiología , Masculino , Mioclonía/etiología , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/diagnóstico por imagen , Síndrome de Circulación Fetal Persistente/diagnóstico , Síndrome de Circulación Fetal Persistente/etiología , Insuficiencia Respiratoria/etiologíaRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Adulto Joven , Tumores Neuroectodérmicos/irrigación sanguínea , Tumores Neuroectodérmicos/diagnóstico , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/metabolismo , Tumor Desmoplásico de Células Pequeñas Redondas , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/tratamiento farmacológico , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/prevención & control , Tumor Desmoplásico de Células Pequeñas Redondas/diagnósticoRESUMEN
BACKGROUND: Back pain is common in industrialized countries and one of the most frequent causes of work incapacity. Successful treatment is, therefore, not only important for improving the symptoms and the quality of life of these patients but also for socioeconomic reasons. Back pain is frequently caused by degenerative spine disease. Intradural spinal tumors are rare with an annual incidence of 2-4/1,00,000 and are mostly associated with neurological deficits and radicular and nocturnal pain. Back pain is not commonly described as a concomitant symptom, such that in patients with both a tumor and degenerative spine disease, any back pain is typically attributed to the degeneration rather than the tumor. OBJECTIVE: The aim of the present retrospective investigation was to study and analyze the impact of microsurgery on back/neck pain in patients with intradural spinal tumor in the presence of degenerative spinal disease in adjacent spinal segments. METHODS: Fifty-eight consecutive patients underwent microsurgical, intradural tumor surgery using a standardized protocol assisted by multimodal intraoperative neuromonitoring. Clinical symptoms, complications and surgery characteristics were documented. Standardized questionnaires were used to measure outcome from the surgeon's and the patient's perspectives (Spine Tango Registry and Core Outcome Measures Index). Follow-up included clinical and neuroradiological examinations 6 weeks, 3 months and 1 year postoperatively. RESULTS: Back/neck pain as a leading symptom and coexisting degenerative spine disease was present in 27/58 (47 %) of the tumor patients, and these comprised to group under study. Patients underwent tumor surgery only, without addressing the degenerative spinal disease. Remission rate after tumor removal was 85 %. There were no major surgical complications. Back/neck pain as the leading symptom was eradicated in 67 % of patients. There were 7 % of patients who required further invasive therapy for their degenerative spinal disease. CONCLUSIONS: Intradural spinal tumor surgery improves back/neck pain in patients with coexisting severe degenerative spinal disease. Intradural spinal tumors seem to be the only cause of back/neck pain more often than appreciated. In these patients suffering from both pathologies, there is a higher risk of surgical overtreatment than undertreatment. Therefore, elaborate clinical and radiological examinations should be performed preoperatively and the indication for stabilization/fusion should be discussed carefully in patients foreseen for first time intradural tumor surgery.
Asunto(s)
Dolor de Espalda/etiología , Degeneración del Disco Intervertebral/cirugía , Microcirugia , Tumores Neuroectodérmicos/cirugía , Neoplasias de la Médula Espinal/cirugía , Columna Vertebral/cirugía , Espondiloartritis/cirugía , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Degeneración del Disco Intervertebral/complicaciones , Masculino , Persona de Mediana Edad , Dolor de Cuello/etiología , Tumores Neuroectodérmicos/complicaciones , Calidad de Vida , Estudios Retrospectivos , Neoplasias de la Médula Espinal/complicaciones , Espondiloartritis/complicaciones , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
Nosocomial/hospital acquired herpes encephalitis is rare and is usually undiagnosed in its early phase because of the non-specific clinical picture and low level of clinical and neuroimaging suspicion. There is a paucity of data in radiology literature for this entity, specifically in the settings of surgery and trauma. We describe two cases of nosocomial herpes simplex encephalitis to demonstrate the imaging clues that might lead to an early diagnosis of this disease.
Asunto(s)
Infección Hospitalaria/diagnóstico , Imagen de Difusión por Resonancia Magnética , Encefalitis por Herpes Simple/diagnóstico , Encefalitis por Herpes Simple/terapia , Adulto , Niño , Infección Hospitalaria/complicaciones , Diagnóstico Precoz , Encefalitis por Herpes Simple/complicaciones , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Tumores Neuroectodérmicos/complicaciones , Tomografía Computarizada por Rayos XRESUMEN
We present a case of primitive neuroectodermal tumor of the left atrium with involvement of the coronary sinus. The initial presentation was of cardiac tamponade resulting from the size of the tumor. There was no evidence of tumor elsewhere, and after complete resection and without adjuvant chemotherapy the patient is well at 2-year follow-up. There has been no evidence of tumor recurrence. This is a rare reported case of resection of a cardiac primitive neuroectodermal tumor without adjuvant chemotherapy. Other cases in the literature have been treated by orthoptic transplantation and resection with chemotherapy.
Asunto(s)
Taponamiento Cardíaco/etiología , Seno Coronario/patología , Atrios Cardíacos/patología , Neoplasias Cardíacas/patología , Tumores Neuroectodérmicos/patología , Trastornos Puerperales/patología , Adulto , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Cesárea , Disnea/etiología , Edema/etiología , Femenino , Neoplasias Cardíacas/química , Neoplasias Cardíacas/complicaciones , Neoplasias Cardíacas/genética , Neoplasias Cardíacas/cirugía , Humanos , Imagen por Resonancia Magnética , Tumores Neuroectodérmicos/química , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/genética , Tumores Neuroectodérmicos/cirugía , Proteínas de Fusión Oncogénica/genética , Derrame Pericárdico/etiología , Complicaciones Posoperatorias/patología , Complicaciones Posoperatorias/cirugía , Proteína Proto-Oncogénica c-fli-1/genética , Trastornos Puerperales/cirugía , Proteína EWS de Unión a ARN/genética , Inducción de RemisiónRESUMEN
Extraskeletal Ewing's sarcoma (ES) and primitive neuroectodermal tumor (PNET) are widely regarded as clinically and histologically identical tumors which consist of small blue round cells. Extraskeletal ESs/PNETs usually occur in the deep soft tissues of the paraspinal region, chest wall, or lower extremities. However, superficially located cases, so-called cutaneous ESs/PNETs, are exceedingly rare, and the vast majority of the reported cases present as a single small mass. We present magnetic resonance imaging (MRI) findings and clinical course of a unique case of primary cutaneous ES/PNET presenting as numerous huge masses with severe ulceration on them.
Asunto(s)
Antineoplásicos/administración & dosificación , Imagen por Resonancia Magnética/métodos , Neoplasias Primarias Múltiples/diagnóstico , Tumores Neuroectodérmicos/diagnóstico , Sarcoma de Ewing/diagnóstico , Neoplasias Cutáneas/diagnóstico , Úlcera/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/complicaciones , Neoplasias Primarias Múltiples/tratamiento farmacológico , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/tratamiento farmacológico , Sarcoma de Ewing/complicaciones , Sarcoma de Ewing/tratamiento farmacológico , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/tratamiento farmacológico , Resultado del Tratamiento , Úlcera/etiología , Úlcera/prevención & controlRESUMEN
Endolymphatic sac tumours (ELST) are aggressive papillary tumours of the temporal bone. The name was finally determined after the endolymphatic sac was determined as the site of their origin. They should be considered in patients with tumours eroding the petrous part of the temporal bone, extending to the cerebellopontine angle or other adjacent structures. These very rare tumours in the general population have much higher prevalence in von Hippel-Lindau disease. Hence molecular analysis of the VHL gene should be performed in patients with ELST and their relatives. The purpose of this study is to present a case report, histopathological characterization of endolymphatic sac tumours, their association with von Hippel-Lindau disease and use of molecular analysis.
Asunto(s)
Tumores Neuroectodérmicos/complicaciones , Neoplasias Craneales/complicaciones , Hueso Temporal/patología , Enfermedad de von Hippel-Lindau/complicaciones , Enfermedad de von Hippel-Lindau/genética , Adulto , Neoplasias Cerebelosas/genética , Neoplasias Cerebelosas/patología , Errores Diagnósticos , Hemangioblastoma/genética , Hemangioblastoma/patología , Humanos , Masculino , Tumores Neuroectodérmicos/genética , Tumores Neuroectodérmicos/patología , Papiloma del Plexo Coroideo/patología , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Neoplasias Craneales/genética , Neoplasias Craneales/patología , Enfermedad de von Hippel-Lindau/patologíaAsunto(s)
Neoplasias del Mediastino/complicaciones , Neoplasias del Mediastino/diagnóstico , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/diagnóstico , Derrame Pericárdico/diagnóstico , Derrame Pericárdico/etiología , Adulto , Humanos , Masculino , Tomografía de Emisión de Positrones , Enfermedades Raras/complicaciones , Enfermedades Raras/diagnóstico , Tomografía Computarizada por Rayos XAsunto(s)
Neoplasias Encefálicas/diagnóstico , Cefalea , Tumores Neuroectodérmicos/diagnóstico , Atención Perioperativa , Adolescente , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/terapia , Terapia Combinada , Femenino , Cefalea/diagnóstico , Cefalea/tratamiento farmacológico , Cefalea/etiología , Humanos , Imagen por Resonancia Magnética , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/terapia , Estados UnidosRESUMEN
BACKGROUND: Recurrent non-cerebellar primitive neuroectodermal tumors (PNETs) carry a dismal prognosis when treated with conventional chemotherapy alone. XSWe tested the efficacy of high-dose chemotherapy (HDC) followed by autologous stem-cell rescue (ASCR) in this setting. PROCEDURE: Eligibility mandated either minimal residual disease or evidence of chemosensitivity before HDC. Conditioning consisted of carboplatin (CBDCA) (500 mg/m(2) or AUC = 7 mg/ml min using the Calvert formula) on days -8 to -6, thiotepa (300 mg/m(2)), and etoposide (250 mg/m(2)) on days -5 to -3. Irradiation was given post HDC selectively. RESULTS: Among 17 patients treated in this study, there were eight pineoblastoma(s) (pineo), seven cortical PNETs, and two arising elsewhere. Relapse was either local (nine) or metastatic to the brain (four) or spine (four). Two patients received HDC as the sole therapy for recurrence; additionally, eight underwent surgical debulking before HDC, and nine received irradiation, including six after HDC. Median age at ASCR was 3.9 years. Two patients died of toxicity (11%) and ten experienced tumor relapse (range: 23-361 days post ASCR). Five patients with cortical PNETs remain alive disease-free (median follow-up: 8.3 years); four of them received irradiation post HDC. The difference in 5-year event-free survival (EFS) between patients with pineo and other supratentorial PNETs was significant (0 vs. 62.5 +/- 17%, P = 0.0065). Both surgery at relapse and irradiation post HDC were favorable prognostic factors (P = 0.006 and 0.01, respectively). CONCLUSIONS: Patients with recurrent cortical PNETs can be cured with this strategy. Surgical debulking before, and irradiation after HDC play an important role in treatment success.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Trasplante de Células Madre Hematopoyéticas , Tumores Neuroectodérmicos/terapia , Terapia Recuperativa/métodos , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/toxicidad , Niño , Preescolar , Ensayos Clínicos como Asunto , Terapia Combinada , Supervivencia sin Enfermedad , Femenino , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Lactante , Masculino , Estudios Multicéntricos como Asunto , Tumores Neuroectodérmicos/complicaciones , Recurrencia , Estudios Retrospectivos , Acondicionamiento Pretrasplante/efectos adversos , Acondicionamiento Pretrasplante/métodos , Trasplante Autólogo , Resultado del TratamientoAsunto(s)
Tumores Neuroectodérmicos/diagnóstico , Neoplasias Ováricas/diagnóstico , Dolor Abdominal/etiología , Antineoplásicos/uso terapéutico , Diagnóstico Diferencial , Resultado Fatal , Femenino , Humanos , Pierna , Melanoma/cirugía , Persona de Mediana Edad , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/diagnóstico por imagen , Tumores Neuroectodérmicos/tratamiento farmacológico , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/diagnóstico por imagen , Neoplasias Ováricas/tratamiento farmacológico , Cuidados Paliativos , Posmenopausia , Radiografía , Neoplasias Cutáneas/cirugía , UltrasonografíaAsunto(s)
Analgesia/métodos , Dolor/tratamiento farmacológico , Cuidados Paliativos/métodos , Ventriculostomía/métodos , Adulto , Anciano , Analgesia/psicología , Analgésicos Opioides/administración & dosificación , Neoplasias Óseas/complicaciones , Neoplasias Óseas/secundario , Esquema de Medicación , Monitoreo de Drogas , Resultado Fatal , Humanos , Inyecciones Intraventriculares , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/secundario , Masculino , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/secundario , Dolor/diagnóstico , Dolor/etiología , Dolor/psicología , Dimensión del Dolor , Cuidados Paliativos/psicología , Neoplasias de la Próstata/complicaciones , Neoplasias de la Próstata/secundario , Calidad de Vida , Neoplasias de la Columna Vertebral/complicaciones , Neoplasias de la Columna Vertebral/secundario , Resultado del Tratamiento , Ventriculostomía/psicologíaRESUMEN
Describir un caso clínico de tumor funcional del órgano de Zuckerkandl y revisión de la literatura. Descripción de una paciente de 14 años de edad con hipertención juvenil y un paraganglioma funcional del órgano de Zuckerkandl. Se presenta el caso y se revisa la literatura acerca del diagnóstico, terapéutica y pronóstico del tumor funcional del órgano Zuckerkandl. La presencia de hipertensión juvenil severa justifica la exhaustiva búsqueda de un tumor productor de catecolaminas. El tratamiento de los tumores productores de catecolaminas es quirúrgico. La diferenciación entre un paraganglioma benigno o maligno se evidencia por la presencia de metástasis o invasión a órganos adyacentes. El seguimiento de estos pacientes es indispensable por la probable aparición de metástasis o recurrencia muchos años después
Asunto(s)
Humanos , Adolescente , Adolescente , Hipertensión/patología , Paraganglios Cromafines , Paraganglioma , Pronóstico , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/diagnóstico , VenezuelaRESUMEN
A young man was admitted to hospital with dyspnea, malaise, chest pain and night sweating. Investigative studies revealed a cystic mass lesion originating from the heart. Surgical exploration of the tumor showed that it was unresectable and pathology of the biopsy material was primitive neuroectodermal tumor. Medical literature concerning this unusual type of tumor is reviewed.
Asunto(s)
Neoplasias Cardíacas/diagnóstico , Tumores Neuroectodérmicos/diagnóstico , Adulto , Antineoplásicos/uso terapéutico , Biopsia , Dolor en el Pecho/etiología , Disnea/etiología , Neoplasias Cardíacas/complicaciones , Neoplasias Cardíacas/tratamiento farmacológico , Humanos , Masculino , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/tratamiento farmacológico , Derrame Pericárdico/etiología , Sudoración , Tomografía Computarizada por Rayos X , Negativa del Paciente al Tratamiento , Pérdida de PesoRESUMEN
Ultrasound and CT in a young man, admitted for violent left flank pain, revelead a large heterogeneous left renal mass, with hypodense collection along the psoas. The diagnosis was spontaneous renal hematoma. A check CT 3 weeks later found a large tumor of the inferior pole. After radical nephrectomy, histopathology diagnosed a primitive neuroectodermal tumor. The patient died one year later despite neoadjuvant chemotherapy. This article reports the clinical, radiological and histopathological aspect of a primitive neuroectodermal tumor of the kidney, compared with the other cases in literature.
Asunto(s)
Hematoma/etiología , Enfermedades Renales/etiología , Neoplasias Renales/complicaciones , Neoplasias Renales/diagnóstico , Tumores Neuroectodérmicos/complicaciones , Tumores Neuroectodérmicos/diagnóstico , Adulto , Antineoplásicos/uso terapéutico , Biopsia , Quimioterapia Adyuvante , Resultado Fatal , Humanos , Neoplasias Renales/cirugía , Masculino , Nefrectomía , Tumores Neuroectodérmicos/cirugía , Dolor/etiología , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
BACKGROUND: Trilateral retinoblastoma refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. The purpose of this study was to review patient and tumor characteristics and treatment outcome in patients with trilateral retinoblastoma and to determine whether there is a difference in presentation or outcome according to the location of the intracranial tumor. METHODS: A MEDLINE search of all English language articles pertaining to trilateral retinoblastoma published between 1977-1997 was performed. A total of 94 different cases were identified and analyzed. RESULTS: The gender was male in 39 patients (41.5%), female in 50 patients (53.2%), and unknown in 5 patients (5.3%). Family history for retinoblastoma was positive in 44 patients (46.8%), negative in 39 patients (41.5%), and unknown in 11 patients (11.7%). The median age at the time of diagnosis of retinoblastoma was 6 months. The median time interval to the development of an intracranial tumor from the time of diagnosis of retinoblastoma was 21 months. In 78 patients (83.0%) the intracranial tumor was in the pineal region and in 16 patients (17.0%) it was in the suprasellar region. The median time interval from the time of diagnosis of retinoblastoma to the development of a pineal region tumor was 24 months whereas the median time interval for the development of a suprasellar region tumor was 1 month. At 6 months after the diagnosis of intraocular tumors, 6 of 61 children with pineal region tumors and 10 of 14 patients with suprasellar region tumors had developed intracranial disease (P = 0.005). Unilateral intraocular retinoblastoma associated with intracranial tumor was more likely to occur in patients with suprasellar region tumors than pineal region tumors (P < 0.015). The median survival after the diagnosis of an intracranial tumor was 6 months regardless of the location of the intracranial tumor. For patients who received no treatment for the intracranial tumor the median survival was 1 month whereas it was 8 months for those who received treatment. Children who were asymptomatic at the time of diagnosis of the intracranial tumor had a better overall survival than those who were symptomatic (P = 0.002). CONCLUSIONS: The prognosis of children who develop trilateral retinoblastoma is dismal with current treatment strategies. Tumors of the suprasellar region present earlier than tumors of the pineal region after the diagnosis of intraocular tumors. Because patients who were asymptomatic at the time of diagnosis of intracranial disease had a better overall survival than those who were symptomatic, screening for intracranial tumors may be a valuable strategy in the management of patients with bilateral and/or hereditary retinoblastoma. [See editorial on pages 3-5, this issue.]
Asunto(s)
Neoplasias Encefálicas/patología , Tumores Neuroectodérmicos/patología , Glándula Pineal/patología , Retinoblastoma/patología , Adolescente , Neoplasias Encefálicas/complicaciones , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Tumores Neuroectodérmicos/complicaciones , Pronóstico , Retinoblastoma/complicaciones , Estudios Retrospectivos , Análisis de SupervivenciaAsunto(s)
Tumores Neuroectodérmicos/complicaciones , Infecciones del Sistema Respiratorio/complicaciones , Neoplasias de la Médula Espinal/complicaciones , Tortícolis/etiología , Articulación Atlantoaxoidea , Niño , Preescolar , Humanos , Luxaciones Articulares/complicaciones , Trastornos de la Motilidad Ocular/complicaciones , Postura , Síndrome , Visión OcularRESUMEN
This review article surveys clinical and pathological literature on endolymphatic sac tumours (ELST) and summarizes characteristics that describe the entity. ELST are rare neuroectodermal neoplasms in the petrous bone, originating from inner ear structures. They can be encountered sporadically or in von Hippel-Lindau disease. The most prominent symptom is sensorineural deafness. Historically, nomenclature of invasive adenoid tumours in the petrous bone has been divergent, the term papillary adenocarcinoma used most frequently. Histologically, they have a follicular or papillary and adenoid pattern that can be easily confused with various other neoplastic conditions including metastatic carcinoma. It remains to be verified whether similar tumours (papillary adenocarcinomas) can originate from the middle ear. Middle ear adenomas have a similar appearance but probably originate from neural crest cells in the middle ear. ELST can express a variety of epitopes (including cytokeratin and neuroectodermal markers) which can be detected immunohistochemically. In cases in von Hippel-Lindau disease the cerebello-pontine angle should be included in routine radiological examinations to detect ELST before the tumours lead to deafness. In apparently sporadic cases of ELST, genetic testing for von Hippel-Lindau disease should be considered. Correct distinction of ELST from metastatic carcinoma prevents futile searches for unknown primary tumours.