RESUMEN
BACKGROUND: Intracranial germ cell tumors (GCTs) comprise 3%-5% of pediatric primary central nervous system (CNS) tumors in Western countries. Though they are related in embryonic origin to gonadal GCTs, which are considered highly treatable with cisplatin-based chemotherapy regimens, intracranial GCTs vary in malignant potential and sensitivity to radiation and chemotherapy, generally carrying a worse prognosis. Metastases of intracranial GCTs outside of the CNS are rare, indicate a poor prognosis, and their salvage treatment is not well established. CASE: A 15-year-old boy presented with bifocal (suprasellar and pineal) intracranial nongerminomatous germ cell tumors of mixed origin. The tumors were treated to full response with a multimodal approach of neoadjuvant chemotherapy, surgical resection, and adjuvant craniospinal proton radiation. Nine months following treatment completion, the patient presented with an enlarged cervical lymph node determined on excisional biopsy to be a recurrence of pure germinoma from the primary tumors. Salvage treatment involved high-dose chemotherapy and autologous stem cell transplantation; however, the patient denied further treatment prior to planned focal radiotherapy. Thirty months post-treatment, the patient is well with no evidence of recurrence. CONCLUSION: This case demonstrated the successful salvage treatment of an extraneural recurrence of an intracranial GCT using surgical resection and a high-dose chemotherapy and autologous stem-cell transplantation regimen, highlighting the unique factors which led to the selection of this regimen.
Asunto(s)
Neoplasias Encefálicas , Germinoma , Trasplante de Células Madre Hematopoyéticas , Neoplasias de Células Germinales y Embrionarias , Adolescente , Neoplasias Encefálicas/patología , Niño , Germinoma/tratamiento farmacológico , Germinoma/patología , Humanos , Ganglios Linfáticos/patología , Masculino , Neoplasias de Células Germinales y Embrionarias/diagnóstico , Neoplasias de Células Germinales y Embrionarias/terapia , Trasplante AutólogoRESUMEN
Central giant cell granuloma (CGCG) is a relatively rare non-neoplastic, intraosseous lesion that exhibits a wide spectrum of clinical behavior, and its management can be particularly challenging even for experienced clinicians. The etiopathogenesis of this disease process remains unclear, although factors such as trauma, inflammatory foci, and a genetic predisposition have been implicated. Although multiple treatment modalities have been used with varying degrees of success, there is no accepted algorithm for therapeutic intervention and little is known about the reasons for success or failure of a given treatment. This article reviews the epidemiology, presentation, classification, and currently used therapies for CGCG while describing the clinical course and successful therapeutic outcome of a young female patient with an aggressive CGCG of the mandible.
Asunto(s)
Granuloma de Células Gigantes/terapia , Enfermedades Mandibulares/terapia , Biopsia , Niño , Terapia Combinada , Femenino , Granuloma de Células Gigantes/diagnóstico por imagen , Humanos , Enfermedades Mandibulares/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
Hypogranular platelet disorders in human subjects are relatively rare. They include the gray platelet syndrome, αδ storage pool deficiency, the Hermansky-Pudlak syndrome, and the white platelet syndrome. Perhaps the rarest of them all is the Medich giant platelet disorder. No additional cases of this condition have been reported since description of the first case in 2004. This study describes two children with thrombocytopenia and giant, hypogranular platelets found shortly after birth. Electron microscopic study of their platelets revealed sheets of membrane wrapped into tubes resembling scrolls. The scroll-like structures were open at both ends and often filled with glycogen particles. The abnormal structures are identical to those found in the initial case. As a result, the disorder can now be referred to as the Medich giant platelet syndrome.
Asunto(s)
Síndrome de Bernard-Soulier/diagnóstico , Trastornos de las Plaquetas Sanguíneas/congénito , Síndrome de Hermanski-Pudlak/diagnóstico , Deficiencia de Almacenamiento del Pool Plaquetario/diagnóstico , Trastornos de las Plaquetas Sanguíneas/diagnóstico , Plaquetas/ultraestructura , Femenino , Humanos , Masculino , Trombocitopenia/diagnósticoRESUMEN
BACKGROUND: 6-Thioguanine (TG) was recently studied to determine whether TG in maintenance therapy achieves better event free survival than 6-mercaptopurine (MP) for standard risk acute lymphoblastic leukemia (ALL) on the clinical trial, CCG-1952 (5/1996-1/2000). Veno-occlusive disease was previously recognized as a complication of TG on CCG-1952. We report a newly recognized pediatric complication of TG: splenomegaly and portal hypertension (PH) developing during maintenance or after completion of therapy. PROCEDURE: Twelve patients (3-10 years) had been randomized to receive a targeted dose of 50 mg/m(2)/day of TG during maintenance phases. Actual TG dose ranged from 25 to 77 mg/m(2)/day (median 34 mg/m(2)/day). RESULTS: The initial patient, a boy who had marked thrombocytopenia and intermittent splenomegaly during maintenance therapy, was evaluated for persistent pancytopenia and progressive splenomegaly 3 months after completion of therapy. Dilated splenic vein and collaterals consistent with PH were documented by MRI/MRA. Esophagogastroduodenoscopy found esophageal varices. Liver biopsy showed periportal fibrosis and marked dilatation of veins and venules. Of the other 12 patients, 9 patients studied had abnormal MRI/MRAs with evidence of varices in 4. Eight patients had splenomegaly on physical examination. Liver biopsies in a girl after 3.3 courses of TG and a boy after 4.6 courses of TG showed periportal fibrosis and dilatation of venules and sinusoids and minimal focal fatty changes. Subsequent MRI/MRAs have been stable or improved. CONCLUSIONS: The evaluations of these 12 patients suggest that treatment with TG causes injury to the liver leading to PH and that thrombocytopenia and splenomegaly are clinical hallmarks of this toxicity.
Asunto(s)
Antimetabolitos Antineoplásicos/toxicidad , Hipertensión Portal/inducido químicamente , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Tioguanina/toxicidad , Administración Oral , Niño , Preescolar , Várices Esofágicas y Gástricas/inducido químicamente , Femenino , Humanos , Hipertensión Portal/patología , Angiografía por Resonancia Magnética , Imagen por Resonancia Magnética , Masculino , Mercaptopurina/toxicidad , Pancitopenia/inducido químicamente , Esplenomegalia/inducido químicamente , Trombocitopenia/inducido químicamenteAsunto(s)
Cromosomas Humanos Par 21 , Cromosomas Humanos Par 8 , Leucemia Monocítica Aguda/genética , Leucemia Mieloide Aguda/genética , Neurofibromatosis 1/genética , Translocación Genética , Trisomía , Preescolar , Cromosomas Humanos Par 21/ultraestructura , Cromosomas Humanos Par 8/ultraestructura , Resultado Fatal , Femenino , Humanos , Lactante , Masculino , Neoplasias Primarias Múltiples/genética , Neurofibromina 1/genética , Glioma del Nervio Óptico/genética , Estructura Terciaria de Proteína/genéticaRESUMEN
Epstein-Barr virus-associated lymphoproliferative disease (EBV-LPD) is a serious disorder seen in various states of immunodeficiency, often with a fatal outcome. In this article, a patient with EBV-lymphoma after autologous stem cell rescue for treatment of a nonhematologic solid tumor is described. The child, a 4-year-old boy, had unilateral retinoblastoma with metastatic spread to the central nervous system. He had previously received both local tumor bed and craniospinal radiation therapy together with intensive myeloablative alkylator chemotherapy before autologous stem cell rescue. Histologically confirmed lymphoma with evidence of active EBV proliferation developed within cervical lymph nodes 3 weeks after his first autologous stem cell rescue. A complete clinical remission of the lymphadenopathy was obtained after infusions of rituximab (an anti-CD20 monoclonal antibody), acyclovir, and high-titer anticytomegalovirus immunoglobulin. The patient died approximately 6 months later of persistent and progressive retinoblastoma without any clinical evidence of lymphoma. It is concluded that EBV-LPD should be included in the differential diagnosis in patients in whom lymphadenopathy develops after autologous stem cell rescue.