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1.
Rev. argent. radiol ; 82(3): 124-130, set. 2018. ilus
Artigo em Espanhol | LILACS | ID: biblio-977273

RESUMO

Los síndromes de neoplasia endocrina múltiple (MEN), incluyen una serie de enfermedades con alteraciones genéticas que se caracterizan por la presencia de tumores que afectan a dos o más glándulas endocrinas. Son síndromes con una herencia autosómica dominante e incluyen tres patrones: MEN 1 (síndrome de Wermer), MEN 2 (que incluye MEN 2A o síndrome de Sipple y MEN 2B o síndrome de Wagenmann-Froboese) y MEN 4. Los adenomas paratiroideos y el carcinoma medular tiroideo, son los tumores más frecuentes del MEN tipo 1 y 2 respectivamente. Esos síndromes son más comunes en pacientes jóvenes, con patología de afectación bilateral, múltiple o multifocal y, sobre todo, en pacientes con antecedentes familiares. Es necesario el trabajo en equipo de endocrinólogos, cirujanos, oncólogos y radiólogos para optimizar el tratamiento de esos pacientes.


Multiple endocrine neoplasia (MEN) encompasses a serial of familial genetically disorders in wich tumors simultaneusly occur in two or more endocrine organs. MEN síndromes are autosomal-dominant disorders categorized into three main patterns: MEN 1 (Wermer syndrome), MEN 2 (includes MEN 2A o Sipple syndrome and MEN 2B o Wagenmann-Froboese syndrome) and MEN 4. Parathyroid adenomas and medullary thyroid carcinoma are the most frecuent tumors in MEN 1 and MEN 2 respectively. These entities will be suspected in younger patients, bilateral, multiple or multifocal disease and, specially, in patients with family background. Cooperation between endocrinologist, surgeons, oncologists and radiologists is pivotal for optimizing patient treatment.


Assuntos
Humanos , Neoplasia Endócrina Múltipla/diagnóstico por imagem , Neoplasia Endócrina Múltipla Tipo 2b/diagnóstico por imagem , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico por imagem , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias das Paratireoides/diagnóstico por imagem , Doenças da Hipófise/complicações , Doenças da Hipófise/diagnóstico por imagem , Neoplasia Endócrina Múltipla/complicações , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias do Córtex Suprarrenal/diagnóstico por imagem , Carcinoma Adrenocortical/diagnóstico por imagem , Hiperparatireoidismo Primário/diagnóstico por imagem
2.
Prensa méd. argent ; 104(6): 288-294, Ago2018. fig, graf, tab
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1051238

RESUMO

This study examines a description of pituitary tumors considering an anatomopathological casuistic. The study of the tumors of the Central Nervous System (CNS) include the pituitary gland, located in the sella turcica. The pathology of the sellar region is represented by the adenomas, tumors of slow development with or without endocrine secretion, that usually involve the population of young adults. The aim of this report, was to describe the casuistic of the " J. Fernandez Hospital" between the years 2000 through 2017. A retrospective review was performed and 234 samples of the sellar region were processed. Mean age was 42 years with a range of 17 to 77 years. Sex distribution was 57% women and 43 % men. Of these, 77% of the cases resulted adenomas. The conclusions obtained in the study are detailed.


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Adeno-Hipófise/patologia , Neoplasias Hipofisárias/patologia , Sela Túrcica/patologia , Sistema Nervoso Central/patologia , Neoplasia Endócrina Múltipla Tipo 1/genética , Diagnóstico
3.
Rev. cuba. endocrinol ; 27(3): 63-68, sep.-dic. 2016.
Artigo em Espanhol | LILACS | ID: biblio-830469

RESUMO

Introducción: existen 4 tipos de neoplasias endocrinas múltiples, las cuales se caracterizan por la aparición de tumores en 2 o más glándulas endocrinas. La prevalencia de neoplasia endocrina múltiple 1 es aproximadamente 2 por 100 000, y constituyen una enfermedad poco frecuente. Objetivo: descartar, ante la sospecha de una neoplasia endocrina múltiple 1 con mutación negativa, otras enfermedades para poder diagnosticarla como tal. Presentación del caso clínico: mujer de 36 años, con diagnóstico de macroprolactinoma e hiperparatiroidismo primario normocalcémico (neoplasia endocrina múltiple 1 clínica), hallazgos clínicos que justificaron el estudio genético. Inicialmente para neoplasia endocrina múltiple 1, resultó negativo. En pacientes con neoplasia endocrina múltiple 1 clínica -o alta sospecha de neoplasia endocrina múltiple 1 en los que no se identifica mutación- hay que considerar que se trate de una fenocopia y ampliar el estudio genético: CDC73, CDKN1B, CaSR y AIP. También se analizaron estos genes, y fueron negativos. Otra entidad a considerar sería el hiperparatiroidismo aislado familiar. Conclusiones: llegar al diagnóstico de neoplasia endocrina múltiple 1 a veces no es tan simple, como identificar una mutación positiva. Es importante descartar fenocopias, para poder diagnosticar correctamente al paciente, pues esto determinará el seguimiento en búsqueda de otros posibles tumores, lo que -en último término- puede condicionar el pronóstico(AU)


Introduction: there are four types of multiple endocrine neoplasias which are characterized by occurrence of tumors in two or more endocrine glands. The prevalence rate of multiple endocrine neoplasia type 1 is 2 per 100 000 patients approximately and it is a rare disease. Objective: to rule out the existence of any other disease in order to properly diagnose a suspected multiple endocrine neoplasia type 1 with negative mutation. Clinical case presentation: a 36 years-old woman diagnosed with macroprolactinoma and primary normocalcemic hyperparathyroidism (clinical multiple endocrine neoplasia type 1) and clinical findings supporting the performance of a genetic study. The study initially yielded negative results for the above-mentioned disease. However, in those patients with clinical multiple endocrine neoplasia type 1- or high suspicious of multiple endocrine neoplasia type 1 with no identified mutation- it must be considered that there is a phenocopy and the genetic study must be extended to include CDC 73, CDKN1B, CaSR and AIP. These genes were also analyzed with negative results. Another disease to be considered would be isolated family hyperparathyroidism. Conclusions: making the diagnosis of a multiple endocrine neoplasia type 1 is not sometimes as simple as identifying a positive mutation. It is important to rule out possible phenocopies to be able to adequately diagnose a patient, since this will determine the search for other probable tumors which may ultimately influence this prognosis(AU)


Assuntos
Humanos , Feminino , Adulto , Hiperparatireoidismo Primário/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/epidemiologia , Proteína Quinase CDC2/análise
4.
Metro cienc ; 24(2): 75-79, 01 de Diciembre del 2016.
Artigo em Espanhol | LILACS | ID: biblio-986554

RESUMO

La neoplasia endocrina múltiple tipo 1 (NEM1) es un raro síndrome hereditario, autosómico dominante, clásicamente caracterizado por tumores en varias glándulas (paratiroides, adenohipófisis e islotes pancreáticos). La prevalencia del NEM1 es de aproximadamente 2 por 100.000 habitantes.El síndrome de Zollinger Ellison (SZE) es una de las 3 neoplasias que forman parte del NEM1 y corresponde al 20 a 60%. A continuación se presenta el caso clínico de un paciente de sexo masculino, 66 años de edad, con cuadro clínico de síndrome de Zollinger Ellison que, en investigación posterior, evidencia alteración funcional de las glándulas paratiroides, cumpliendo criterios diagnósticos de neoplasia endocrina múltiple tipo 1 (NEM1).(AU)


Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary syndrome, classically characterized by the presence of tumors in several glands (parathyroid, anterior pituitary and pancreatic islets) The prevalence of MEN 1 is approximately 2 per 100,000 inhabitants. The Zollinger Ellison syndrome (ZES) is one of the three neoplasias that form part of the MEN 1, and corresponds to 20 to 60%. The clinical case of a 66-year-old male patient, with a clinical of Zollinger Ellison Syndrome, who in a subsequent investigation shows functional abnormality of the parathyroid glands, fulfilling diagnostic criteria of Multiple Endocrine Neoplasia type 1 (NEM1) (AU)


Assuntos
Humanos , Masculino , Idoso , Neoplasias das Paratireoides , Síndrome de Zollinger-Ellison , Neoplasia Endócrina Múltipla Tipo 1 , Síncope , Endoscopia do Sistema Digestório , Úlcera Duodenal , Esofagite
5.
Rev. Soc. Bras. Clín. Méd ; 13(4): 282-288, out-dez 2015. tab
Artigo em Português | LILACS | ID: lil-785269

RESUMO

A alta prevalência de tumores da glândula adrenal deve-se, em parte, ao avanço dos métodos de imagem. Os adenomas, carcinomas e hiperplasias oriundos do córtex adrenal são responsáveis por 80 a 90% dos processos tumorais. Alguns casos são herdados e podem estar associados a efeito compressivo de massa tumoral, hipersecreção de esteroides ou manifestações clínicas em outros órgãos. Considerando as hiperplasias e tumores adrenocorticais, o objetivo desse trabalho foi auxiliar os médicos na identificação de pacientes que apresentem risco para doença hereditária. As neoplasias e hiperplasias adrenocorticais podem ser encontradas em síndromes hereditárias, como a síndrome de Li-Fraumeni, síndrome de Beckwith-Wiedemann, neoplasia endócrina múltipla do tipo I, síndrome de Gardner e no complexo de Carney. A hereditariedade também está associada com doenças adrenocorticais na hiperplasia adrenal congênita, no aldosteronismo primário e/ou na síndrome de Cushing (doença clínica ou subclínica) na hiperplasia adrenal macronodular primária. Essa revisão descreve as características clínicas e os defeitos genéticos responsáveis pelas síndromes hereditárias. Relacionamos também a classificação histopatológica dos processos expansivos com os principais sinais clínicos e os genes relacionados. A identificação de defeitos genéticos em células germinativas nessas doenças familiais permite o conhecimento de alterações somáticas em alguns tipos de processos tumorais adrenocorticais de etiologia esporádica. Considerando a prevalência dos tumores do córtex adrenal, a identificação de predisposição hereditária é essencial para assegurar a conduta clínica correta do paciente e o aconselhamento genético de seus familiares.


The adrenal gland tumors are prevalent due in part by the widespread use of imaging studies. Adenomas, carcinomas and hyperplasias, originating from the adrenal cortex, account for 80-90% of adrenal tumoral processes. Some cases are inherited and may be associated with local mass effect, steroid hypersecretion and/or clinical manifestation in other organs. In the context of adrenocortical tumors and hyperplasias, the purpose of this article is to assist physicians in identifying patients who may be at risk of hereditary diseases. Adrenocortical hyperplasias and neoplasias can be found in familial tumor syndromes, such as Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia type 1, Gardner syndrome and Carney complex. Heredity has been also associated with adrenocortical lesions in congenital adrenal hyperplasia, primary aldosteronism and/or Cushing syndrome (overt or subclinical disease) in primary macronodular adrenal hyperplasia (PMAH). This review describes the clinical recognition and genetic defects that have been found to be responsible for these hereditary diseases. Furthermore, we present the histopathologic classification of adrenocortical expansive processes in correlation to the main clinical features and related genes. The identification of germline genetic defects in such familial diseases lead to the identification of somatic alterations in a subgroup of sporadic adrenocortical lesions. Considering the prevalence of adrenocortical tumors, identification of a hereditary predisposition is essential to assure the adequate clinical management of the patient and to offer the genetic counselling to family members.


Assuntos
Síndromes Neoplásicas Hereditárias , Neoplasias do Córtex Suprarrenal , Adenoma Adrenocortical , Hormônio Adrenocorticotrópico , Aconselhamento Genético , Síndrome de Beckwith-Wiedemann , Síndrome de Gardner , Síndrome de Li-Fraumeni , Neoplasia Endócrina Múltipla Tipo 1 , Doenças Genéticas Inatas/diagnóstico
6.
Rev. colomb. radiol ; 25(4): 4090-4095, 2014. ilus
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-995122

RESUMO

Objetivo: Revisar la literatura sobre la utilidad de la ultrasonografía intraoperatoria (USIOP) en sujetos con tumores neuroendocrinos del páncreas (TNEp). Metodología: Se presenta un caso de TNEp en el contexto de neoplasia endocrina múltiple tipo 1 (NEM-1) con sus hallazgos clínicos, bioquímicos y radiológicos, así como el abordaje quirúrgico y los resultados. Se discute el rendimiento de las imágenes diagnósticas preoperatorias y el uso de la USIOP. Resultados: Hombre de 31 años remitido con sospecha de insulinoma e historia de síndrome convulsivo de 9 años de evolución. Tenía una tomografía computarizada de abdomen que mostraba una lesión pancreática de 28 × 22 mm; un estudio de Octreoscan® mostró captación focal del radiotrazador muy prominente en la unión de la cabeza con el cuerpo del páncreas; se realizó una prueba de ayuno que mostró hipoglucemia hiperinsulinémica, calcio ionizado elevado, paratohormona (PTH) elevada, compatible con hiperparatiroidismo primario. Se llevó a cirugía guiada por USIOP con sospecha de NEM 1 y se lograron resecar cinco tumores neuroendocrinos de páncreas y duodeno, con metástasis ganglionar regional. Conclusiones: La USIOP de páncreas puede cambiar el abordaje quirúrgico y el pronóstico de los sujetos con TNEp y en sospecha de NEM 1. Además, permite guiar el tratamiento quirúrgico, al facilitar la localización y caracterización de las lesiones pancreáticas y, a su vez, confirma si las lesiones han sido completamente resecadas. Se recomienda su uso en todos los sujetos con TNEp y en aquellos con sospecha de NEM 1.


Purpose: Review of the literature regarding the utility of intraoperative ultrasonography in patients with pancreatic neuroendocrine tumors (PNETs). Methods: We present a case of PNETs in the context of multiple endocrine neoplasia type 1 (MEN-1), with their clinical, biochemical, and radiological findings, as well as surgical approach and results. The performance of pre-operatory diagnostic images and the use of USIOP is discussed. Results: A 31 year old man with history of epilepsy was remitted with suspicion of insulinoma and a history of convulsive syndrome with 9 years of evolution. An abdominal computerized tomography scan showed a 28 x 22 mm. pancreatic lesion and an Octreoscan® showed focal capitation of the very prominent radiotracer at the junction of the head and body of the pancreas. Fasting tests showed hypoglycemic hyperinsulinemia; elevated parathyroid hormones compatible with primary hyperparathyroidism. The patient was remitted to surgery guided by IO-US with suspicion of MEN 1 and five neuroendocrine tumors of the pancreas and duodenum were isolated, with regional lymph node metastasis. Conclusions: IO-US of the pancreas can modify the surgical approach and the prognosis in patients with PNETs with suspicion of MEN- 1; it guides surgical treatment, enabling localization and characterization of pancreatic lesions and confirmation of the complete removal of the tumors. IO- US is recommended in all patients with PNETs and patients with suspicion of MEN- 1.


Assuntos
Humanos , Ultrassonografia , Pâncreas , Tumores Neuroendócrinos , Neoplasia Endócrina Múltipla Tipo 1
7.
Rev. Assoc. Med. Bras. (1992) ; 58(3): 323-327, May-June 2012. tab
Artigo em Inglês | LILACS | ID: lil-639556

RESUMO

OBJECTIVE: To evaluate frequency, anatomic presentation, and quantities of supernumerary parathyroids glands in patients with primary hyperparathyroidism (HPT1) associated with multiple endocrine neoplasia type 1 (MEN1), as well as the importance of thymectomy, and the benefits of localizing examinations for those glands. METHODS: Forty-one patients with hyperparathyroidism associated with MEN1 who underwent parathyroidectomy between 1997 and 2007 were retrospectively studied. The location and number of supernumerary parathyroids were reviewed, as well as whether cervical ultrasound and parathyroid SESTAMIBI scan (MIBI) were useful diagnostic tools. RESULTS: In five patients (12.2%) a supernumerary gland was identified. In three of these cases (40%), the glands were near the thyroid gland and were found during the procedure. None of the imaging examinations were able to detect supernumerary parathyroids. In one case, only the pathologic examination could find a microscopic fifth gland in the thymus. In the last case, the supernumerary gland was resected through a sternotomy after a recurrence of hyperparathyroidism, ten years after the initial four-gland parathyroidectomy without thymectomy. MIBI was capable of detecting this gland, but only in the recurrent setting. Cervical ultrasound did not detect any supernumerary glands. CONCLUSION: The frequency of supernumerary parathyroid gland in the HPT1/MEN1 patients studied (12.2%) was significant. Surgeons should be aware of the need to search for supernumerary glands during neck exploration, besides the thymus. Imaging examinations were not useful in the pre-surgical location of these glands, and one case presented a recurrence of hyperparathyroidism.


OBJETIVO: Avaliação da frequência, da localização anatômica e do número de paratireoides extranumerárias em pacientes com hiperparatireoidismo primário (HPT1) associado a neoplasia endócrina múltipla tipo 1(NEM1), além da avaliação da importância da timectomia e da utilidade dos exames radiológicos para localização destes. MÉTODOS: Foram avaliados de forma retrospectiva 41 pacientes portadores de NEM1 com HPT1 submetidos a paratireoidectomia entre 1997 e 2007. O número de glândulas supranumerárias encontradas e a sua localização foram revisados, assim como a utilidade do ultrassom cervical e do SESTAMIBI (MIBI) de paratireoide como ferramentas diagnósticas. RESULTADOS: Em cinco pacientes (12,2%) foram identificadas glândulas supranumerárias. Em três destes (40%), as glândulas estavam próximas à glândula tireoide e foram encontradas durante a exploração cirúrgica. Os exames de imagem não foram úteis para a localização destas glândulas. Em um caso, apenas o exame anatomopatológico foi capaz de encontrar uma glândula extranumerária microscópica localizada no timo. No último caso, uma quinta glândula foi ressecada por meio de esternotomia após a recidiva do hiperparatireoidismo, cerca de 10 anos após a paratireoidectomia realizada sem timectomia na ocasião. Neste caso o MIBI detectou esta paratireoide apenas após a recidiva da doença. Em nenhum dos casos o ultrassom cervical foi capaz de detectar glândulas extranumerárias. CONCLUSÃO: A frequência de paratireoides supranumerárias em nossa casuística foi significativa (12,2%). Durante a exploração cervical, o cirurgião deve estar atento para localizar glândulas extranumerárias além do timo. Exames de imagem não foram úteis na localização préoperatória dessas glândulas, e em um caso houve recidiva do hiperparatireoidismo.


Assuntos
Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Hiperparatireoidismo/patologia , Neoplasia Endócrina Múltipla Tipo 1/patologia , Glândulas Paratireoides/anormalidades , Hiperparatireoidismo/etiologia , Neoplasia Endócrina Múltipla Tipo 1/complicações , Glândulas Paratireoides/patologia , Glândulas Paratireoides/cirurgia , Estudos Retrospectivos , Timectomia
8.
Arq. bras. endocrinol. metab ; 56(3): 184-189, Apr. 2012. ilus, tab
Artigo em Inglês | LILACS | ID: lil-626270

RESUMO

OBJECTIVE: This study aimed at identifing mutations in two Chinese genealogies with MEN1. SUBJECTS AND METHODS: Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced. RESULTS: A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insGAGGTGG mutation (c.703-709dup7bp) resulted in a frameshift (p.A237Gfsx13) in family II. CONCLUSION: We are able to add a new mutation of MEN1 gene in Chinese patients with MEN1 that will be useful for the diagnosis and treatment of the disease.


OBJETIVO: O objetivo deste estudo foi identificar as mutações em duas famílias chinesas com NEM1. SUJEITOS E MÉTODOS: Três membros das duas famílias chinesas foram estudados. Em todos eles, as regiões codificadoras e sequências adjacentes do gene MEN1 foram amplificadas e sequenciadas. RESULTADOS: Uma alteração heterozigota recorrente de T>A em IVS 4+1 foi encontrada na família I, e uma nova mutação insGAGGTGG (c.703-709dup7bp) levou a um frameshift (p.A237Gfsx13) na família II. CONCLUSÃO: Adicionou-se uma nova mutação ao gene MEN1 em pacientes chineses com diagnóstico de NEM1 que vai ser útil no diagnóstico e tratamento da doença.


Assuntos
Feminino , Humanos , Mutação em Linhagem Germinativa/genética , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasias das Paratireoides/genética , Mutação Puntual/genética , Sequência de Bases , China , Linhagem
9.
Clinics ; 67(supl.1): 7-11, 2012. tab
Artigo em Inglês | LILACS | ID: lil-623124

RESUMO

Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's": parathyroid, pituitary, and pancreatic tumors, including gastroenteroneuroendocrine tumors. Genetic testing can be performed on patients and the potential carriers of the menin gene mutation, but the genotype-phenotype correlation in multiple endocrine neoplasia type 1 is less straightforward than multiple endocrine neoplasia type 2. Most likely, the main advantage of genetic testing in MEN1 is to exclude from further studies those who are negative for the genetic mutation if they belong to a family with a known history of MEN1. In Chile, we started with rearranged during transfection proto-oncogene genetic testing (MEN2) 15 years ago. We carried out a prophylactic total thyroidectomy to prevent medullary thyroid carcinoma in a three-year-old girl who presented with microscopic medullary thyroid carcinoma. More than 90% of the individuals who tested positive using a genetic test achieved a biochemical cure compared with only 27% of patients who receive a clinical diagnosis. Mutations are mainly located in exon 11; the most common is C634W, rather than C634R. Hypertensive crisis was the cause of death in three patients, and extensive distant metastases occurred in nine (including two patients with multiple endocrine neoplasia type 2B) of 14 patients. Earlier recognition of medullary thyroid carcinoma and the other features of the disease, especially pheochromocytoma, will improve the survival rate of patients with multiple endocrine neoplasia.


Assuntos
Feminino , Humanos , Carcinoma Medular/congênito , Neoplasia Endócrina Múltipla Tipo 1/genética , /genética , Neoplasias da Glândula Tireoide/genética , Chile , Carcinoma Medular/diagnóstico , Carcinoma Medular/prevenção & controle , Estudos de Associação Genética , Testes Genéticos , Mutação , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , /diagnóstico , Tireoidectomia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/prevenção & controle
10.
Clinics ; 67(supl.1): 29-32, 2012. ilus
Artigo em Inglês | LILACS | ID: lil-623127
11.
Clinics ; 67(supl.1): 37-41, 2012. ilus, tab
Artigo em Inglês | LILACS | ID: lil-623129

RESUMO

Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.


Assuntos
Humanos , Adenoma/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Mutação , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasias Hipofisárias/genética , Acromegalia/genética , Testes Genéticos , Adenoma Hipofisário Secretor de Hormônio do Crescimento/genética , Linhagem
12.
Clinics ; 67(supl.1): 43-48, 2012.
Artigo em Inglês | LILACS | ID: lil-623130

RESUMO

We briefly review the characteristics of pituitary tumors associated with multiple endocrine neoplasia type 1. Multiple endocrine neoplasia type 1 is an autosomal-dominant disorder most commonly characterized by tumors of the pituitary, parathyroid, endocrine-gastrointestinal tract, and pancreas. A MEDLINE search for all available publications regarding multiple endocrine neoplasia type 1 and pituitary adenomas was undertaken. The prevalence of pituitary tumors in multiple endocrine neoplasia type 1 may vary from 10% to 60% depending on the studied series, and such tumors may occur as the first clinical manifestation of multiple endocrine neoplasia type 1 in 25% of sporadic and 10% of familial cases. Patients were younger and the time between initial and subsequent multiple endocrine neoplasia type 1 endocrine lesions was significantly longer when pituitary disease was the initial manifestation of multiple endocrine neoplasia type 1. Tumors were larger and more invasive and clinical manifestations related to the size of the pituitary adenoma were significantly more frequent in patients with multiple endocrine neoplasia type 1 than in subjects with non-multiple endocrine neoplasia type 1. Normalization of pituitary hypersecretion was much less frequent in patients with multiple endocrine neoplasia type 1 than in subjects with non-multiple endocrine neoplasia type 1. Pituitary tumors in patients with multiple endocrine neoplasia type 1 syndrome tend to be larger, invasive and more symptomatic, and they tend to occur in younger patients when they are the initial presentation of multiple endocrine neoplasia type 1.


Assuntos
Humanos , Adenoma/genética , Mutação , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasias Hipofisárias/genética , Adenoma/patologia , Genes Neoplásicos/genética , Mutação em Linhagem Germinativa/genética , Neoplasia Endócrina Múltipla Tipo 1/patologia , Neoplasias Hipofisárias/patologia , Síndrome
13.
Clinics ; 67(supl.1): 49-56, 2012. ilus, tab
Artigo em Inglês | LILACS | ID: lil-623131

RESUMO

Multiple endocrine neoplasia type 1 is an inherited endocrine tumor syndrome, predominantly characterized by tumors of the parathyroid glands, gastroenteropancreatic tumors, pituitary adenomas, adrenal adenomas, and neuroendocrine tumors of the thymus, lungs or stomach. Multiple endocrine neoplasia type 1 is caused by germline mutations of the multiple endocrine neoplasia type 1 tumor suppressor gene. The initial germline mutation, loss of the wild-type allele, and modifying genetic and possibly epigenetic and environmental events eventually result in multiple endocrine neoplasia type 1 tumors. Our understanding of the function of the multiple endocrine neoplasia type 1 gene product, menin, has increased significantly over the years. However, to date, no clear genotype-phenotype correlation has been established. In this review we discuss reports on exceptional clinical presentations of multiple endocrine neoplasia type 1, which may provide more insight into the pathogenesis of this disorder and offer clues for a possible genotype-phenotype correlation.


Assuntos
Humanos , Adenoma/genética , Estudos de Associação Genética , Mutação em Linhagem Germinativa/genética , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasias Hipofisárias/genética , Proteínas Proto-Oncogênicas/metabolismo , Adenoma/metabolismo , Predisposição Genética para Doença , Neoplasia Endócrina Múltipla Tipo 1/metabolismo , Neoplasias Hipofisárias/metabolismo
14.
Clinics ; 67(supl.1): 99-108, 2012. tab
Artigo em Inglês | LILACS | ID: lil-623138

RESUMO

Primary hyperparathyroidism associated with multiple endocrine neoplasia type I (hyperparathyroidism/multiple endocrine neoplasia type 1) differs in many aspects from sporadic hyperparathyroidism, which is the most frequently occurring form of hyperparathyroidism. Bone mineral density has frequently been studied in sporadic hyperparathyroidism but it has very rarely been examined in cases of hyperparathyroidism/multiple endocrine neoplasia type 1. Cortical bone mineral density in hyperparathyroidism/multiple endocrine neoplasia type 1 cases has only recently been examined, and early, severe and frequent bone mineral losses have been documented at this site. Early bone mineral losses are highly prevalent in the trabecular bone of patients with hyperparathyroidism/multiple endocrine neoplasia type 1. In summary, bone mineral disease in multiple endocrine neoplasia type 1related hyperparathyroidism is an early, frequent and severe disturbance, occurring in both the cortical and trabecular bones. In addition, renal complications secondary to sporadic hyperparathyroidism are often studied, but very little work has been done on this issue in hyperparathyroidism/multiple endocrine neoplasia type 1. It has been recently verified that early, frequent, and severe renal lesions occur in patients with hyperparathyroidism/multiple endocrine neoplasia type 1, which may lead to increased morbidity and mortality. In this article we review the few available studies on bone mineral and renal disturbances in the setting of hyperparathyroidism/multiple endocrine neoplasia type 1. We performed a meta-analysis of the available data on bone mineral and renal disease in cases of multiple endocrine neoplasia type 1-related hyperparathyroidism.


Assuntos
Humanos , Densidade Óssea , Hiperparatireoidismo Primário/fisiopatologia , Nefropatias/etiologia , Neoplasia Endócrina Múltipla Tipo 1/complicações , Desmineralização Patológica Óssea , Osso e Ossos/metabolismo , Seguimentos , Hiperparatireoidismo Primário/etiologia , Hiperparatireoidismo Primário/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Hormônio Paratireóideo/sangue , Resultado do Tratamento
15.
Clinics ; 67(supl.1): 131-139, 2012. ilus
Artigo em Inglês | LILACS | ID: lil-623143

RESUMO

Most cases of sporadic primary hyperparathyroidism present disturbances in a single parathyroid gland and the surgery of choice is adenomectomy. Conversely, hyperparathyroidism associated with multiple endocrine neoplasia type 1 (hyperparathyroidism/multiple endocrine neoplasia type 1) is an asynchronic, asymmetrical multiglandular disease and it is surgically approached by either subtotal parathyroidectomy or total parathyroidectomy followed by parathyroid auto-implant to the forearm. In skilful hands, the efficacy of both approaches is similar and both should be complemented by prophylactic thymectomy. In a single academic center, 83 cases of hyperparathyroidism/ multiple endocrine neoplasia type 1 were operated on from 1987 to 2010 and our first surgical choice was total parathyroidectomy followed by parathyroid auto-implant to the non-dominant forearm and, since 1997, associated transcervical thymectomy to prevent thymic carcinoid. Overall, 40% of patients were given calcium replacement (mean intake 1.6 g/day) during the first months after surgery, and this fell to 28% in patients with longer follow-up. These findings indicate that several months may be needed in order to achieve a proper secretion by the parathyroid auto-implant. Hyperparathyroidism recurrence was observed in up to 15% of cases several years after the initial surgery. Thus, long-term follow-up is recommended for such cases. We conclude that, despite a tendency to subtotal parathyroidectomy worldwide, total parathyroidectomy followed by parathyroid auto-implant is a valid surgical option to treat hyperparathyroidism/multiple endocrine neoplasia type 1. Larger comparative systematic studies are needed to define the best surgical approach to hyperparathyroidism/multiple endocrine neoplasia type 1.


Assuntos
Feminino , Humanos , Hiperparatireoidismo Primário/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Neoplasias das Paratireoides/cirurgia , Paratireoidectomia/métodos , Seguimentos , Hiperparatireoidismo Primário/etiologia , Neoplasia Endócrina Múltipla Tipo 1/complicações , Glândulas Paratireoides/transplante , Neoplasias das Paratireoides/complicações , Recidiva , Reoperação , Transplante Autólogo
16.
Clinics ; 67(supl.1): 141-144, 2012.
Artigo em Inglês | LILACS | ID: lil-623144

RESUMO

Primary hyperparathyroidism is a common endocrinological disorder. In rare circumstances, it is associated with familial syndromes, such as multiple endocrine neoplasia type 1. This syndrome is caused by a germline mutation in the multiple endocrine neoplasia type 1 gene encoding the tumor-suppressor protein menin. Usually, primary hyperparathyroidism is the initial clinical expression in carriers of multiple endocrine neoplasia type 1 mutations, occurring in more than 90% of patients and appearing at a young age (20-25 years). Multiple endocrine neoplasia type 1/primary hyperparathyroidism is generally accompanied by multiglandular disease, clinically manifesting with hypercalcemia, although it can remain asymptomatic for a long time and consequently not always be recognized early. Surgery is the recommended treatment. The goal of this short review is to discuss the timing of surgery in patients when primary hyperparathyroidism is associated with multiple endocrine neoplasia type 1.


Assuntos
Humanos , Hiperparatireoidismo Primário/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Neoplasias das Paratireoides/cirurgia , Mutação em Linhagem Germinativa , Hiperparatireoidismo Primário/genética , Neoplasia Endócrina Múltipla Tipo 1/genética , Linhagem , Neoplasias das Paratireoides/genética , Paratireoidectomia/métodos , Timectomia
17.
Clinics ; 67(supl.1): 145-148, 2012. ilus
Artigo em Inglês | LILACS | ID: lil-623145

RESUMO

Surgical approaches to pancreatic endocrine tumors associated with multiple endocrine neoplasia type 1 may differ greatly from those applied to sporadic pancreatic endocrine tumors. Presurgical diagnosis of multiple endocrine neoplasia type 1 is therefore crucial to plan a proper intervention. Of note, hyperparathyroidism/multiple endocrine neoplasia type 1 should be surgically treated before pancreatic endocrine tumors/multiple endocrine neoplasia type 1 resection, apart from insulinoma. Non-functioning pancreatic endocrine tumors/multiple endocrine neoplasia type 1 >1 cm have a high risk of malignancy and should be treated by a pancreatic resection associated with lymphadenectomy. The vast majority of patients with gastrinoma/multiple endocrine neoplasia type 1 present with tumor lesions at the duodenum, so the surgery of choice is subtotal or total pancreatoduodenectomy followed by regional lymphadenectomy. The usual surgical treatment for insulinoma/multiple endocrine neoplasia type 1 is distal pancreatectomy up to the mesenteric vein with or without spleen preservation, associated with enucleation of tumor lesions in the pancreatic head. Surgical procedures for glucagonomas, somatostatinomas, and vipomas/ multiple endocrine neoplasia type 1 are similar to those applied to sporadic pancreatic endocrine tumors. Some of these surgical strategies for pancreatic endocrine tumors/multiple endocrine neoplasia type 1 still remain controversial as to their proper extension and timing. Furthermore, surgical resection of single hepatic metastasis secondary to pancreatic endocrine tumors/multiple endocrine neoplasia type 1 may be curative and even in multiple liver metastases surgical resection is possible. Hepatic trans-arterial chemo-embolization is usually associated with surgical resection. Liver transplantation may be needed for select cases. Finally, pre-surgical clinical and genetic diagnosis of multiple endocrine neoplasia type 1 syndrome and localization of multiple endocrine neoplasia type 1related tumors are crucial for determining the best surgical strategies in each individual case with pancreatic endocrine tumors.


Assuntos
Humanos , Gastrinoma/cirurgia , Insulinoma/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Tumores Neuroendócrinos/cirurgia , Neoplasias Pancreáticas/cirurgia , Diagnóstico Diferencial , Gastrinoma/diagnóstico , Gastrinoma/genética , Insulinoma/diagnóstico , Insulinoma/genética , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/genética , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/genética , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética
18.
Clinics ; 67(supl.1): 155-160, 2012. ilus, tab
Artigo em Inglês | LILACS | ID: lil-623147

RESUMO

Usually, primary hyperparathyroidism is the first endocrinopathy to be diagnosed in patients with multiple endocrine neoplasia type 1, and is also the most common one. The timing of the surgery and strategy in multiple endocrine neoplasia type 1/hyperparathyroidism are still under debate. The aims of surgery are to: 1) correct hypercalcemia, thus preventing persistent or recurrent hyperparathyroidism; 2) avoid persistent hypoparathyroidism; and 3) facilitate the surgical treatment of possible recurrences. Currently, two types of surgical approach are indicated: 1) subtotal parathyroidectomy with removal of at least 3-3 K glands; and 2) total parathyroidectomy with grafting of autologous parathyroid tissue. Transcervical thymectomy must be performed with both of these procedures. Unsuccessful surgical treatment of hyperparathyroidism is more frequently observed in multiple endocrine neoplasia type 1 than in sporadic hyperparathyroidism. The recurrence rate is strongly influenced by: 1) the lack of a pre-operative multiple endocrine neoplasia type 1 diagnosis; 2) the surgeon's experience; 3) the timing of surgery; 4) the possibility of performing intra-operative confirmation (histologic examination, rapid parathyroid hormone assay) of the curative potential of the surgical procedure; and, 5) the surgical strategy. Persistent hyperparathyroidism seems to be more frequent after subtotal parathyroidectomy than after total parathyroidectomy with autologous graft of parathyroid tissue. Conversely, recurrent hyperparathyroidism has a similar frequency in the two surgical strategies. To plan further operations, it is very helpful to know all the available data about previous surgery and to undertake accurate identification of the site of recurrence.


Assuntos
Humanos , Hiperparatireoidismo Primário/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Paratireoidectomia/métodos , Cuidados Intraoperatórios , Cuidados Pré-Operatórios , Hormônio Paratireóideo/análise , Paratireoidectomia/estatística & dados numéricos , Recidiva , Glândula Tireoide/patologia
19.
Clinics ; 67(supl.1): 169-172, 2012. ilus, tab
Artigo em Inglês | LILACS | ID: lil-623148

RESUMO

The bone mineral density increments in patients with sporadic primary hyperparathyroidism after parathyroidectomy have been studied by several investigators, but few have investigated this topic in primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Further, as far as we know, only two studies have consistently evaluated bone mineral density values after parathyroidectomy in cases of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Here we revised the impact of parathyroidectomy (particularly total parathyroidectomy followed by autologous parathyroid implant into the forearm) on bone mineral density values in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Significant increases in bone mineral density in the lumbar spine and femoral neck values were found, although no short-term (15 months) improvement in bone mineral density at the proximal third of the distal radius was observed. Additionally, short-term and medium-term calcium and parathyroid hormone values after parathyroidectomy in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 are discussed. In most cases, this surgical approach was able to restore normal calcium/parathyroid hormone levels and ultimately lead to discontinuation of calcium and calcitriol supplementation.


Assuntos
Humanos , Densidade Óssea , Hiperparatireoidismo Primário/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Cálcio/sangue , Seguimentos , Hiperparatireoidismo Primário/fisiopatologia , Neoplasia Endócrina Múltipla Tipo 1/fisiopatologia , Período Pós-Operatório , Hormônio Paratireóideo/sangue , Paratireoidectomia/métodos
20.
Clinics ; 67(supl.1): 173-178, 2012. graf, tab
Artigo em Inglês | LILACS | ID: lil-623149

RESUMO

Pancreatico-duodenal tumors are the second most common endocrinopathy in multiple endocrine neoplasia syndrome type 1, and have a pronounced effect on life expectancy as the principal cause of disease-related death. Previous discussions about surgical management have focused mainly on syndromes of hormone excess and, in particular, the management of multiple endocrine neoplasia syndrome type 1-related Zollinger-Ellison syndrome. Since hormonal syndromes tend to occur late and indicate the presence of metastases, screening with biochemical markers and endoscopic ultrasound is recommended for early detection of pancreatico-duodenal tumors, and with early surgery before metastases have developed. Surgery is recommended in patients with or without hormonal syndromes in the absence of disseminated liver metastases. The suggested operation includes distal 80% subtotal pancreatic resection together with enucleation of tumors in the head of the pancreas, and in cases with Zollinger-Ellison syndrome, excision of duodenal gastrinomas together with clearance of regional lymph node metastases. This strategy, with early and aggressive surgery before metastases have developed, is believed to reduce the risks for tumor recurrence and malignant progression.


Assuntos
Humanos , Neoplasias Duodenais/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Neoplasias Pancreáticas/cirurgia , Neoplasias Duodenais/diagnóstico , Metástase Linfática , Neoplasias Hepáticas/secundário , Linfonodos/patologia , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasias Pancreáticas/diagnóstico
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