ABSTRACT
El cáncer medular de tiroides (CMT) correspondeal 5% de los tumores de la glándula tiroides. El único tratamiento curativo es la cirugía. En pacientes con compromiso locorregional o a distancia, la enfermedad puede evolucionar en forma indolente o bien con una rápida progresión de síntomas, requiriendo tratamiento sistémico. Si bien el CMT se caracteriza por tener escasa respuesta a la quimioterapia (QT), la evidencia actual en estudios aleatorizados demostró que los inhibidores de tirosina quinasa (ITQ) han demostrado beneficio en supervivencia libre de progresión (SLP). Se analizaron 6 pacientes con un seguimiento mediano de 29 meses. Todos presentaron más de dos sitios metastásicos. Dos requirieron tratamientos locorregionales (quimioembolización y RT). Los ITQ más utilizados fueron: vandetanib (3), sorafenib (2) y sunitinib (1). Un 50% inició tratamiento con dosis plenas y 3 requirieron reducción de dosis debido a toxicidad G3-G4. El intervalo libre de progresión (ILP) mediano, luego del inicio con ITQ, fue de 4.1 meses (AU)
Medullary thyroid cancer (CMT) accounts for 5% of thyroid tumors. The only curative treatment is surgery. In patients with locally or distal involvement, the disease may evolve indolently or with rapid progression of symptoms, requiring systemic treatment. Although CMT is characterized by a poor response to chemotherapy, current evidence in randomized trials has shown that tyrosine kinase inhibitors (ITKs) have demonstrated benefit in progressionfree survival. Six patients with a median follow-up of 29 months were analyzed. All had more than two metastatic sites. Two patients required locoregional treatments (chemoembolization and radio therapy). The most commonly used ITKs were: vandetanib (3), sorafenib (2) and sunitinib (1). The 50% initiated treatment with full dose and 3 required reduction of the dose due to G3- G4 toxicity. The median progression-free interval after initiation with ITK was 4.1 months (AU)
Subject(s)
Humans , Male , Female , Carcinoma, Medullary/diagnosis , Protein Kinase Inhibitors , Thyroid Neoplasms , Carcinoma, Medullary/drug therapy , Neoplasm Metastasis , ThyroidectomyABSTRACT
El carcinoma de tiroides es un tumor infrecuente; constituye menos del 1% de las neoplasias malignas en la población general y el 0,5%-3% en la edad pediátrica. Existen cuatro tipos: papilar (80%-90% de los casos), folicular (5%-10%), medular (5%) y anaplásico (2%-3%). En el tipo medular, el 80% son esporádicos, y un 20% se asocia a un síndrome hereditario que se divide, fundamentalmente, en tres grupos: neoplasia endócrina múltiple 1, neoplasia endócrina múltiple 2 y carcinoma medular de tiroides familiar. Las formas hereditarias se producen por una mutación en el protooncogén RET, localizado en el brazo largo del cromosoma 10. Se presenta un caso de carcinoma medular de tiroides detectado a raíz de un estudio genético familiar con el propósito de resaltar la importancia del diagnóstico precoz y la intervención de equipos multidisciplinares expertos en esta patología para su manejo y seguimiento.
Thyroid cancer is an uncommon type of cancer, accounting less than 1% of all cancers in adults, and 0.5-3% of all cancers in children. There are four different types: papillary carcinoma (80-90% of cases), follicular (5-10%), medullary (5%) and anaplastic cell (2-3%). Eighty per cent of cases of medullary thyroid cancer are sporadic, but 20% are associated with an inherited syndrome that is divided into three groups: multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. The inherited forms are caused by a disruption in the RET oncogene, which is located in the long arm of chromosome 10. A hereditary case of medullary thyroid carcinoma is presented. It was detected because of a familial genetic study. The purpose of the paper is emphasize the importance of the early diagnosis and the intervention of multidisciplinary teams of experts.
Subject(s)
Humans , Female , Child, Preschool , Thyroid Neoplasms/genetics , Carcinoma, Neuroendocrine/genetics , Pedigree , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/therapy , Carcinoma, Neuroendocrine/diagnosis , Carcinoma, Neuroendocrine/therapyABSTRACT
Medullary thyroid cancer can appear sporadically or as part of a multiple endocrine neoplasia type 2A or 2B. In both conditions, it is associated with mutations of proto oncogene RET (rearranged during transfection). We report a 14 years old male presenting with a bone lesion in the skull followed by a hard cevical mass. A CAT scan showed an invasive thyroid nodule with involvement of regional lymph nodes , osteolytic lesions in skull, spine and ribs and liver metastases. Serum calcitonin was markedly elevated (9752 pg/ml, normal below 14 pg/ml). Fine needle biopsy showed a medullary thyroid carcinoma and the patient was subjected to a total thyroidectomy and radical cervical dissection. In the postoperative period the patient required calcium and vitamin D supplementation. Serum calcitonin 15 days after surgery was 11.692 pg/ml. Palliative radiotherapy was indicated for spine pain. A percutaneous gastrostomy was indication for nutritional support. The molecular study did not detect mutations of RET gene between exons 10 and 16.
Subject(s)
Humans , Male , Adolescent , Carcinoma, Medullary/surgery , Carcinoma, Medullary/diagnosis , Thyroid Neoplasms/surgery , Thyroid Neoplasms/diagnosis , Biopsy, Fine-Needle , Calcitonin/blood , Carcinoma, Medullary/pathology , /diagnosis , /diagnosis , Thyroid Neoplasms/pathology , Positron-Emission Tomography , Proto-Oncogene Proteins c-ret , Thyroidectomy , Tomography, X-Ray ComputedABSTRACT
La neoplasia endocrina múltiple tipo 2B es un padecimiento autosómico dominante, conlleva carcinoma medular de tiroides, feocromocitoma, ganglioneuromas en mucosas e intestino y habitus marfanoide. Se presenta el caso de un paciente de 35 años de edad con diagnóstico de neoplasia endocrina múltiple tipo 2B y feocromocitoma suprarrenal derecho, tratado con adrenalectomía lumboscópica. El diagnóstico del feocromocitoma incluye detección de catecolaminas en suero y orina, estudios de imagen como tomografía axial computarizada, resonancia magnética nuclear y gammagrama con metaiodobencilguanidina. En la actualidad el abordaje laparoscópico se ha convertido en el tratamiento de elección.
Multiple endocrine neoplasia type 2B (MEN 2B) is an autosomal dominant syndrome characterized by medullary thyroid carcinoma, pheochromocytoma, a marfanoid habitus and mucosal ganglioneuromatosis. We present a case of a 35-year-old male with MEN 2B with right adrenal pheochromocytoma diagnosed biochemically and radiologically and treated by laparoscopic adrenalectomy. Diagnosis of pheochromocytoma includes detection of catecholamines in urine and plasma and radiological tests such as computed axial tomography, nuclear magnetic resonance imaging and metaiodobenzylguanidine scintigraphy. Laparoscopic techniques have become standard for treatment of tumors of the adrenal glands.