Entendiendo la Biología y la Historia Natural del MEN2 con o sin CMT en Niños y Adultos
Este estudio tiene como objetivo observar y comprender la tasa de crecimiento biológico de las lesiones tumorales primarias y metastásicas, así como las vías moleculares alteradas en la Neoplasia Endocrina Múltiple tipo 2 (MEN2) con o sin Cáncer Medular de Tiroides (MTC) en niños y adultos.
Colección de datos
Recopilados desde hoy en adelante - ProspectivoAdenocarcinoma+12
+ Carcinoma
+ Enfermedades del Sistema Endocrino
Cohorte
Seguimiento de la incidencia de una enfermedad para identificar factores de riesgo y comprender su progresión a lo largo del tiempo.Resumen
Fecha de inicio: 30 de julio de 2012
Fecha en la que se inscribió al primer participante.Background: * Medullary Thyroid Carcinoma (MTC) is a calcitonin producing tumor arising from the parafollicular C cells of thyroid. In children and adults, MTC is usually seen in association with Multiple Endocrine Neoplasia (MEN) 2A and 2B, which are rare cancer syndromes resulting from germline mutations of Rearranged during Transfection (RET) proto-oncogene. MTC develops in virtually all patients with MEN 2, and is the leading cause of death in these patients. Patients with MEN 2 may have other characteristic manifestations such as pheochromocytoma and hyperparathyroidism in MEN 2A and pheochromocytoma, ganglioneuromatosis, and skeletal deformities in MEN 2B. * Complete surgical resection is the only current curative treatment for MTC, and the tumor is unresponsive to standard chemotherapy and conventional doses of radiation therapy. However, more than half the patients present with advanced or metastatic disease and cannot be cured surgically. Novel agents are currently under investigation for treatment of MTC, and vandetanib, an oral RET and receptor tyrosine kinase (RTK) inhibitor was recently approved by the FDA for adults with advanced or metastatic MTC. Vandetanib also has activity in children with hereditary MTC. * However, complete responses to RTKs have not been observed, and some patients develop resistance to the treatment with RET and RTK inhibitors or have primary refractory disease. The natural history of MTC, particularly in patients with MEN 2, the molecular pathways involved in tumorigenesis, and the development of resistance to targeted therapies are not well understood. Objectives: -The overall objective of this longitudinal study is to develop a better understanding of the biology and natural history of MEN2 with or without MTC, particularly in children and adults with MEN 2A and 2B, as well as study non-tumor manifestations of MEN 2. This will hopefully allow for developing more effective treatment interventions for tumor and non-tumor related manifestations, and more sensitive endpoints in clinical trials. Eligibility: * Patients, must have histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI or who have MEN2 (regardless of MTC status). * Parent or primary caregiver of patient participant (<= 21) * Participants may be undergoing standard care or receiving treatment on a clinical trial while participating in this study. Design: This study will allow for longitudinal evaluations of MTC and MEN2 and non-tumor related manifestations of MEN 2A and 2B in children and adults. Evaluations will consist of the following (summarized): 1. Clinical and radiological evaluations 2. Detailed pathologic and molecular analysis of tumor specimens will be performed, including immunohistochemistry (IHC), comparative genomic hybridization (CGH), and genome sequencing. CGH and genome sequencing will be performd with co-enrollment on protocol 10-C-0086 Comprehensive Omics Analysis of Pediatric Solid Tumors and Establishment of a Repository for Related Biological Studies.
Protocolo
Esta sección proporciona detalles del plan del estudio, incluyendo cómo está diseñado y qué se está evaluando.Se reclutarán 259 pacientes
Número total de participantes que el ensayo clínico espera reclutar.Cohorte
Elegibilidad
Los investigadores buscan pacientes que cumplan ciertos criterios, conocidos como criterios de elegibilidad: estado general de salud o tratamientos previos.Cualquier sexo
Sexo biológico de los participantes elegibles para inscribirse.A partir de 4 meses
Rango de edades de los participantes que pueden unirse al estudio.Voluntarios sanos permitidos
Indica si personas sanas, sin la condición que se estudia, pueden participar.Condiciones
Patología
Criterios
* INCLUSION CRITERIA FOR PATIENTS: * Patients must have histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI OR Confirmation of MEN2A or MEN2B diagnosis, regardless of presence of MTC. * Performance Status: Ability to travel to the NIH and to undergo evaluations to be performed on this protocol. * Informed Consent: Ability of patient or their legal guardian (if the patient is \<18 years old) to understand and willing to sign a written informed consent document. * Prior and current therapy: For the purpose of this study subjects who have not previously received medical or surgical treatment, patients, who have previously received medical or surgical treatment, and subjects who are currently receiving medical treatment and/or radiation for MEN 2 related manifestation(s) will be eligible. Prior and current treatment for MEN 2 related manifestations will be recorded at trial entry and throughout the study. * Patients must have a primary care provider (for example a primary oncologist or endocrinologist) who can provide and coordinate the medical care for the patient. EXCLUSION CRITERIA FOR PATIENTS: -In the opinion of the investigator the patient is not able to return for follow-up visits or obtain required follow-up studies. Inclusion Criteria for Parents or Primary Caregivers * Must be a parent or primary caregiver of a patient (\< 21) who has a histologically or cytologically confirmed MTC or who have MEN2 (regardless of MTC status). * Ability to understand and be willing to sign a written informed consent document. EXCLUSION CRITERIA FOR PARENTS OR PRIMARY CAREGIVERS: None
Plan de Estudio
Conoce todos los tratamientos administrados en este estudio, su descripción detallada y en qué consisten.2 grupos de intervención están designados en este estudio
0% de probabilidad de ser asignado al grupo placebo
Grupos de Tratamiento
Objetivos del Estudio
Objetivos Primarios
Objetivos Secundarios
Centros del Estudio
Estos son los hospitales, clínicas o centros de investigación donde se lleva a cabo el estudio. Puedes encontrar la ubicación más cercana a ti y su estado de reclutamiento.Este estudio tiene una ubicación
National Institutes of Health Clinical Center
Bethesda, United StatesAbrir National Institutes of Health Clinical Center en Google Maps