RESUMO
PURPOSE: To describe the clinical and imaging features of a sellar-suprasellar pineoblastoma RB1 subgroup without pineal or retinal involvement. CASE REPORT: An 11-month-old girl presented to the emergency department with fever, rhinorrhea, vomiting, altered level of consciousness, and one seizure. Head CT and brain MRI demonstrated a large lobulated mass with calcifications and heterogeneous enhancement in the suprasellar region causing mass effect to the ventricular system and hydrocephalus. Histology revealed a CNS embryonal tumor not otherwise specified (NOS) with small round nuclei with mitotic activity and necrosis. DNA methylation analysis classified the tumor in the pineoblastoma RB1 subgroup. CONCLUSION: Pineoblastoma RB1 subgroup should be considered in the differential diagnosis of large sellar-suprasellar masses with calcifications and heterogeneous enhancement in children younger than 18 months even in cases of absent pineal or retinal involvement. Molecular analysis with DNA methylation profiling is critical for diagnosis and management.
Assuntos
Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Glândula Pineal , Pinealoma , Neoplasias da Retina , Feminino , Humanos , Lactente , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Neoplasias do Sistema Nervoso Central/patologia , Glândula Pineal/diagnóstico por imagem , Pinealoma/diagnóstico por imagem , Pinealoma/genética , Neoplasias da Retina/diagnóstico por imagem , Neoplasias da Retina/patologia , Proteínas de Ligação a Retinoblastoma , Ubiquitina-Proteína LigasesRESUMO
BACKGROUND: Intracranial germinomas (GN) are rare cancers that primarily affect children, making them rarer still in adults. Standard treatment for this neoplasm includes neoadjuvant chemotherapy (NC) followed by radiotherapy (RT) or RT at a higher dose and larger field. These recommendations are based on studies focused mostly on children; it is currently unclear whether this treatment is applicable to adults. CASE: We present a case of a 23-year-old adult male with no underlying pathologies, drug allergies, or family history of cancer, who presented for medical evaluation with blurred vision, diplopia, forgetfulness, and weight loss starting 3-4 months before the evaluation. Clinical examination indicated Parinaud's Syndrome. Magnetic resonance imaging (MRI) and computed tomography (CT) revealed a pineal tumor with ependymal dissemination in both lateral ventricles, which was causing obstructive hydrocephalus. The patient had surgery consisting of ventriculostomy, Holter shunt insertion, cisternal ventricular intubation, and cisterna magna anastomosis to improve ventricular drainage. Pathology confirmed pineal germinoma. Cerebrospinal fluid cytology and MRI of the axis were negative. Four cycles of NC were given to the patient (carboplatin, etoposide, and ifosfamide), with reduced dosage. Once a partial volumetric response was confirmed, whole-ventricular radiotherapy (WVR) was initiated with a total tumor bed dose of 45 Gy over 25 sessions in 5 weeks. Optimum clinical results were observed, and no short-term (<90 day) radiation toxicity was observed. The patient was able to resume his normal activities soon after treatment. Follow-ups over 2 years post-surgery indicated continued control of the lesion and absence of symptoms except for mild diplopia. CONCLUSION: Although this is a case report, these data suggest that a reduced NC course and WVR may effectively treat adult GN. This protocol likely decreases the risk of undesirable NC and RT secondary effects, while providing excellent local control; however, using a narrower RT field is not recommended.
Assuntos
Neoplasias Encefálicas , Germinoma , Glândula Pineal , Pinealoma , Adulto , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/terapia , Criança , Diplopia/complicações , Diplopia/patologia , Germinoma/diagnóstico por imagem , Germinoma/terapia , Humanos , Masculino , Glândula Pineal/diagnóstico por imagem , Glândula Pineal/patologia , Pinealoma/diagnóstico por imagem , Pinealoma/terapia , Adulto JovemRESUMO
PURPOSE: Pineal anlage tumors (PAT) are extremely rare malignant tumors in the pediatric population considered to be a variant of pineoblastomas. These tumors are characterized by a combination of neuroectodermal and heterologous ectomesenchymal components. PAT can be clinically aggressive and has a propensity to cerebrospinal fluid (CSF) dissemination. So far, only 13 cases of these tumors have been reported in the literature. CASE ARTICLE: In this article, we report the case of an anlage tumor in a 3-year-old girl with a rapidly aggressive course.
Assuntos
Neoplasias Encefálicas , Glândula Pineal , Pinealoma , Neoplasias Supratentoriais , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Glândula Pineal/diagnóstico por imagem , Glândula Pineal/patologia , Glândula Pineal/cirurgia , Pinealoma/diagnóstico por imagem , Pinealoma/patologia , Pinealoma/cirurgia , Neoplasias Supratentoriais/patologiaRESUMO
Introduction Hemangioblastomas of the pineal region or pituitary stalk are extremely rare. Only two cases of hemangioblastomas involving the pineal region have been reported, and four involving the pituitary stalk. The purpose of the present manuscript is to describe an unusual case of supposed hemangioblastoma found concomitantly in the pineal region and pituitary stalk of a patient diagnosed with Von Hippel-Lindau (VHL) disease. Case Report A 35-year-old female patient with a previous diagnosis of VHL complaining of occipital headaches and balance disturbances for three weeks, who previously had a cerebellar hemangioblastoma resected. The visual characteristics of the tumor suggested a friable vascular lesion with a reddish-brown surface, and an incisional biopsy was performed. The tumor consisted of a dense vascular network surrounded by fibrous stroma abundant in reticulin and composed by both fusiform and dispersed xanthomatous cells; the immunohistochemistry was immunopositive for neuronspecific enolase and immunonegative for epithelial membranous antigen. The patient has been monitored closely for 2 years, and the supratentorial masses have not presented any volume alteration. Conclusion This rare association must be taken into account in patients with VHL disease, or at least be suspected in patients who present a thickening of the pituitary stalk and a pineal-region mass. We believe a biopsy of our asymptomatic patient could have been dangerous due to inherent complications like intraoperative bleeding. We recommend close observation of asymptomatic lesions with MRIs every six months or until the lesions become symptomatic. If the pineal-region tumor does become symptomatic, gross resection via a transcallosal approach would be ideal.
Assuntos
Humanos , Feminino , Adulto , Glândula Pineal/cirurgia , Pinealoma/cirurgia , Hipófise/cirurgia , Hemangioblastoma/cirurgia , Glândula Pineal/anormalidades , Pinealoma/diagnóstico por imagem , Hipófise/anormalidades , Neoplasias Hipofisárias/cirurgia , Hemangioblastoma/diagnóstico por imagem , Continuidade da Assistência ao Paciente , Doença de von Hippel-LindauRESUMO
A 30-month-old boy presented to a Haitian emergency department with proptosis, periorbital edema, and progressive blindness. Bedside ultrasound examination revealed bilateral ocular masses with dense calcifications pathognomonic for retinoblastoma. This case illustrates the diagnostic utility of bedside ultrasound for an advanced case of retinoblastoma in a resource-poor setting. Ocular ultrasound technique is also reviewed.
Assuntos
Serviço Hospitalar de Emergência , Neoplasias Oculares/diagnóstico por imagem , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Sistemas Automatizados de Assistência Junto ao Leito , Retinoblastoma/diagnóstico por imagem , Cegueira/etiologia , Neoplasias Encefálicas/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Calcinose/etiologia , Pré-Escolar , Países em Desenvolvimento , Erros de Diagnóstico , Exoftalmia/etiologia , Neoplasias Oculares/complicações , Neoplasias Oculares/cirurgia , Haiti , Humanos , Masculino , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/cirurgia , Glândula Pineal/diagnóstico por imagem , Pinealoma/diagnóstico por imagem , Retinoblastoma/complicações , Retinoblastoma/cirurgia , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
PURPOSE: To compare the sparing potential of cerebral hemispheres with intensity-modulated radiotherapy (IMRT) and three-dimensional conformal radiotherapy (3D-CRT) for whole-ventricular irradiation (WVI) and conventional whole-brain irradiation (WBI) in the management of localized central nervous system germ cell tumors (CNSGCTs). METHODS AND MATERIALS: Ten cases of patients with localized CNSGCTs and submitted to WVI by use of IMRT with or without a "boost" to the primary lesion were selected. For comparison purposes, similar treatment plans were produced by use of 3D-CRT (WVI with or without boost) and WBI (opposed lateral fields with or without boost), and cerebral hemisphere sparing was evaluated at dose levels ranging from 2 Gy to 40 Gy. RESULTS: The median prescription dose for WVI was 30.6 Gy (range, 25.2-37.5 Gy), and that for the boost was 16.5 Gy (range, 0-23.4 Gy). Mean irradiated cerebral hemisphere volumes were lower for WVI with IMRT than for 3D-CRT and were lower for WVI with 3D-CRT than for WBI. Intensity-modulated radiotherapy was associated with the lowest irradiated volumes, with reductions of 7.5%, 12.2%, and 9.0% at dose levels of 20, 30, and 40 Gy, respectively, compared with 3D-CRT. Intensity-modulated radiotherapy provided statistically significant reductions of median irradiated volumes at all dose levels (p = 0.002 or less). However, estimated radiation doses to peripheral areas of the body were 1.9 times higher with IMRT than with 3D-CRT. CONCLUSIONS: Although IMRT is associated with increased radiation doses to peripheral areas of the body, its use can spare a significant amount of normal central nervous system tissue compared with 3D-CRT or WBI in the setting of CNSGCT treatment.