RESUMO
Abstract A 33-year-old woman with a history of high blood pressure since she was 8 years old, hypothyroidism, polycystic ovary syndrome, metabolic syndrome, multiple nevi, and a maternal family history of death at age 50 due to malignant high blood pressure and heart failure. Cushing's syndrome secondary to a secretory pituitary microadenoma was diagnosed, being the cause of secondary arterial hypertension, and ruling out other causes such as renal stenosis and coarctation of the aorta. A transthoracic and transesophageal echocardiogram was performed, which detected a left atrial myxoma. Given the presence of an atrial myxoma, Cushing's syndro me and polycystic ovary syndrome, a diagnosis of Carney Complex was made due to the presence of positive Stratakis criteria. The cardiac tumor was resected, and pathology confirmed that it was an atrial myxoma. She evolved clinically stable in outpatient controls in a 6-month follow-up. Resection of the pituitary microadenoma is planned as a curative treatment for Cushing's syndrome and arterial hypertension.
Resumen Mujer de 33 años, con antecedentes de hipertensión arterial desde los 8 años, hipotiroidismo, síndrome de ovario poliquístico, síndrome metabólico, nevos múltiples y antecedente familiar materno de muerte a los 50 años por hipertensión arterial maligna e insuficiencia cardiaca. Se diagnosticó síndrome de Cushing secundario a un mi croadenoma hipofisario secretor, siendo la causa de la hipertensión arterial secundaria, y descartándose otras causas como estenosis renal y coartación de aorta. Se realizó u n ecocardiograma transtorácico y transesofágico que detectaron un mixoma auricular izquierdo. Ante la presencia de un mixoma auricular, síndrome de Cushing y síndrome de ovario poliquístico se llegó al diagnóstico de Complejo de Carney por la presencia de criterios de Stratakis positivos. Se realizó la resección del tumor cardiaco, y la anatomía patológica confirmó que se trataba de un mixoma auricular. Evolucionó clínicamente estable en controles ambulatorios en un seguimiento de 6 meses, y se planifica la resección del microadenoma hipofisario como tratamiento curativo del síndrome de Cushing y la hipertensión arterial.
RESUMO
INTRODUCTION AND IMPORTANCE: Carney complex (CNC) is an extremely infrequent multiple endocrine neoplasia syndrome characterized by distinctive pigmented skin and mucosal lesions, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. We herein report a case of CNC and surgical and history of laparoscopic left adrenalectomy complicated with a primary pigmented nodular adrenocortical disease (PPNAD). PRESENTATION OF CASE: We present the case of a 38-year-old woman with a previous diagnosis of CNC and history of laparoscopic left adrenalectomy who consulted for severe depression refractory to medical treatment. In the laboratory tests performed, altered ACTH, prolactin, Somatomedin C-IGF-1 and estradiol. An abdomen and pelvis C/T scan was requested, where an 8 mm lesion was found at the level of the right adrenal gland. Laparoscopic right adrenalectomy was performed. Histopathology of the surgical resection specimen revealed PPNAD. DISCUSSION: CNC is an infrequent syndrome with autosomal dominant inheritance and genetically heterogeneous. PPNAD is a consistent feature in CNC patients, however, reports of Cushing's syndrome in the literature indicate that only 25-45 % of CNC patients have PPNAD. CONCLUSION: PPNAD can be present in patients with Carney complex, with surgical adrenalectomy history. With an adequate selection of patients, laparoscopic adrenalectomy with subsequent hormone replacement therapy should be performed.
RESUMO
A 33-year-old woman with a history of high blood pressure since she was 8 years old, hypothyroidism, polycystic ovary syndrome, metabolic syndrome, multiple nevi, and a maternal family history of death at age 50 due to malignant high blood pressure and heart failure. Cushing's syndrome secondary to a secretory pituitary microadenoma was diagnosed, being the cause of secondary arterial hypertension, and ruling out other causes such as renal stenosis and coarctation of the aorta. A transthoracic and transesophageal echocardiogram was performed, which detected a left atrial myxoma. Given the presence of an atrial myxoma, Cushing's syndrome and polycystic ovary syndrome, a diagnosis of Carney Complex was made due to the presence of positive Stratakis criteria. The cardiac tumor was resected, and pathology confirmed that it was an atrial myxoma. She evolved clinically stable in outpatient controls in a 6-month follow-up. Resection of the pituitary microadenoma is planned as a curative treatment for Cushing's syndrome and arterial hypertension.
Mujer de 33 años, con antecedentes de hipertensión arterial desde los 8 años, hipotiroidismo, síndrome de ovario poliquístico, síndrome metabólico, nevos múltiples y antecedente familiar materno de muerte a los 50 años por hipertensión arterial maligna e insuficiencia cardiaca. Se diagnosticó síndrome de Cushing secundario a un microadenoma hipofisario secretor, siendo la causa de la hipertensión arterial secundaria, y descartándose otras causas como estenosis renal y coartación de aorta. Se realizó u n ecocardiograma transtorácico y transesofágico que detectaron un mixoma auricular izquierdo. Ante la presencia de un mixoma auricular, síndrome de Cushing y síndrome de ovario poliquístico se llegó al diagnóstico de Complejo de Carney por la presencia de criterios de Stratakis positivos. Se realizó la resección del tumor cardiaco, y la anatomía patológica confirmó que se trataba de un mixoma auricular. Evolucionó clínicamente estable en controles ambulatorios en un seguimiento de 6 meses, y se planifica la resección del microadenoma hipofisario como tratamiento curativo del síndrome de Cushing y la hipertensión arterial.
Assuntos
Fibrilação Atrial , Complexo de Carney , Síndrome de Cushing , Neoplasias Cardíacas , Hipertensão , Mixoma , Neoplasias Hipofisárias , Síndrome do Ovário Policístico , Feminino , Humanos , Pessoa de Meia-Idade , Adulto , Criança , Complexo de Carney/complicações , Complexo de Carney/diagnóstico , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/etiologia , Síndrome de Cushing/cirurgia , Síndrome do Ovário Policístico/complicações , Fibrilação Atrial/complicações , Mixoma/complicações , Mixoma/diagnóstico por imagem , Mixoma/cirurgia , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/cirurgia , Neoplasias Hipofisárias/complicações , Hipertensão/complicaçõesRESUMO
Resumen El complejo de Carney es una enfermedad caracterizada por lesiones en la piel, tumores endocrinos, cardiacos, gonadales y en otros órganos, que está asociada con mutaciones del gen PRKAR1A. Presentamos el caso clínico de una paciente con varias de las manifestaciones más características de este síndrome. Finalmente, se hace una revisión de la literatura.
Abstract Carney complex is a disease characterized by skin lesions, endocrine, cardiac, gonadal and other organ tumors, associated with mutations of the PRKAR1A gene. We present the clinical case of a patient with several of the most characteristic manifestations of this syndrome. Finally, there will be a review of the literature.
RESUMO
Abstract Carney complex is a rare genodermatosis characterized by cardiac and cutaneous myxomas, among other tumors. In the majority of cases, cutaneous myxomas precede the diagnosis of cardiac myxomas, which are the main cause of death in these patients. Despite the fact that the diagnosis of cutaneous myxomas is histopathological, high-frequency ultrasonography plays an essential role in the differential diagnosis with other cutaneous and subcutaneous tumors. The authors of the present study describe, for the first time in the literature, the ultrasonographic features of both variants of cutaneous myxomas, superficial and subcutaneous, in a patient with a Carney complex.
Assuntos
Humanos , Neoplasias Cutâneas/diagnóstico por imagem , Complexo de Carney/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico por imagem , Mixoma/diagnóstico por imagem , Diagnóstico DiferencialRESUMO
Carney complex is a rare genodermatosis characterized by cardiac and cutaneous myxomas, among other tumors. In the majority of cases, cutaneous myxomas precede the diagnosis of cardiac myxomas, which are the main cause of death in these patients. Despite the fact that the diagnosis of cutaneous myxomas is histopathological, high-frequency ultrasonography plays an essential role in the differential diagnosis with other cutaneous and subcutaneous tumors. The authors of the present study describe, for the first time in the literature, the ultrasonographic features of both variants of cutaneous myxomas, superficial and subcutaneous, in a patient with a Carney complex.
Assuntos
Complexo de Carney , Neoplasias Cardíacas , Mixoma , Neoplasias Cutâneas , Complexo de Carney/diagnóstico por imagem , Diagnóstico Diferencial , Neoplasias Cardíacas/diagnóstico por imagem , Humanos , Mixoma/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagemRESUMO
Carney complex (CNC) is a rare, autosomal dominant multiple neoplasia syndrome. Although cutaneous myxomas commonly occur in CNC patients, intraoral myxomas are extremely rare. We present a case of a palatal myxoma in a 21-year-old female patient with CNC, along with a review of the pertinent literature. She presented with a sessile nodule on the hard palate that microscopically showed a multilobulated and highly vascularized myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells, suggestive of myxoid neurofibroma. Six years after the oral lesion was removed, she presented with a growth hormone (GH)-producing pituitary adenoma, a cardiac myxoma, two cutaneous myxomas on the lower abdomen area, and one myxoma in the vaginal mucosa. Therefore, the final diagnosis of the palatal lesion was of a soft tissue myxoma related to CNC. The patient remains on close follow-up, with no recurrences of the palatal myxoma after 7 years.
Assuntos
Complexo de Carney/patologia , Mixoma/genética , Neoplasias Palatinas/genética , Palato Duro/patologia , Feminino , Humanos , Mixoma/patologia , Neoplasias Palatinas/patologia , Adulto JovemRESUMO
The pituitary gland is responsible for the synthesis and secretion of various hormones that play a key role in regulating endocrine function and homeostasis. Pituitary adenomas (PA) are benign epithelial tumors arising from the endocrine cells of the anterior pituitary gland. Clinically relevant PA are relatively common and they occur in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior pituitary gland. PA are categorized as either functioning or non-functioning, depending on whether or not they produce a hormonal hypersecretion syndrome. Both functioning and non-functioning adenomas can produce symptoms or signs resulting from compression of the optic chiasm or invasion of cavernous sinuses. Only 5% of PA occur within the context of hereditary syndromes with reasonably well-defined oncogenic mechanisms. The vast majority of PA are sporadic, and their etiopathogenesis remains largely unknown. Pituitary tumor oncogenesis involves several mechanisms that eventually lead to abnormal cell proliferation and dysregulated hormone production. Among these factors, we found inactivating mutations of tumor suppressor genes, activating mutation of oncogenes and the participation of hormonal signals coming from the hypothalamus, all resulting in cell-cycle regulation abnormalities. In this review, we summarize the clinical and pathophysiological aspects of the different hereditary pituitary tumor syndromes.
Assuntos
Adenoma/patologia , Hipófise/patologia , Neoplasias Hipofisárias/patologia , Adenoma/epidemiologia , Adenoma/genética , Animais , Humanos , Mutação , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/genética , SíndromeRESUMO
ABSTRACT The pituitary gland is responsible for the synthesis and secretion of various hormones that play a key role in regulating endocrine function and homeostasis. Pituitary adenomas (PA) are benign epithelial tumors arising from the endocrine cells of the anterior pituitary gland. Clinically relevant PA are relatively common and they occur in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior pituitary gland. PA are categorized as either functioning or non-functioning, depending on whether or not they produce a hormonal hypersecretion syndrome. Both functioning and non-functioning adenomas can produce symptoms or signs resulting from compression of the optic chiasm or invasion of cavernous sinuses. Only 5% of PA occur within the context of hereditary syndromes with reasonably well-defined oncogenic mechanisms. The vast majority of PA are sporadic, and their etiopathogenesis remains largely unknown. Pituitary tumor oncogenesis involves several mechanisms that eventually lead to abnormal cell proliferation and dysregulated hormone production. Among these factors, we found inactivating mutations of tumor suppressor genes, activating mutation of oncogenes and the participation of hormonal signals coming from the hypothalamus, all resulting in cell-cycle regulation abnormalities. In this review, we summarize the clinical and pathophysiological aspects of the different hereditary pituitary tumor syndromes.
Assuntos
Humanos , Animais , Hipófise/patologia , Neoplasias Hipofisárias/patologia , Adenoma/patologia , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/epidemiologia , Síndrome , Adenoma/genética , Adenoma/epidemiologia , MutaçãoRESUMO
Carney described a disorder characterized by the presence of several uncommon tumors which were pulmonary chondromas, gastric sarcomas and extra-adrenal paragangliomas. We report a 14 year-old girl in whom multiple gastric tumors were discovered during a study of an iron deficiency anemia and was subjected to a partial gastrectomy. At 25 years of age, she developed several pulmonary chondromas and at 33 years, a mediastinal tumor with features of an extra-adrenal paraganglioma was found. At 35 years of age, a total gastrectomy was performed to remove a gastrointestinal stromal tumor with excision of peritoneal and lymph node metastasis. One year later, the patient died due to liver failure secondary to liver metastases.
Assuntos
Humanos , Feminino , Adolescente , Neoplasias Gástricas/diagnóstico , Condroma/diagnóstico , Paraganglioma Extrassuprarrenal/diagnóstico , Leiomiossarcoma/diagnóstico , Neoplasias Pulmonares/diagnóstico , Neoplasias Gástricas/cirurgia , Neoplasias Gástricas/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Condroma/cirurgia , Condroma/diagnóstico por imagem , Evolução Fatal , Paraganglioma Extrassuprarrenal/cirurgia , Paraganglioma Extrassuprarrenal/diagnóstico por imagem , Gastrectomia , Leiomiossarcoma/cirurgia , Leiomiossarcoma/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/diagnóstico por imagemRESUMO
Pituitary adenomas are common neoplasms. Their classification is based upon size, invasion of adjacent structures, sporadic or familial cases, biochemical activity, clinical manifestations, morphological characteristics, response to treatment and recurrence. Although they are considered benign tumors, some of them are difficult to treat due to their tendency to recur despite standardized treatment. Functional tumors present other challenges for normalizing their biochemical activity. Novel approaches for early diagnosis, as well as different perspectives on classification, may help to identify subgroups of patients with similar characteristics, creating opportunities to match each patient with the best personalized treatment option. In this paper, we present the progress in the diagnosis and classification of different subgroups of patients with pituitary tumors that may be managed with specific considerations according to their tumor subtype.
RESUMO
Los síndromes lentiginosos familiares (SLF)involucran un amplio espectro fenotípico, que abarcadesde una predisposiciónhereditaria a desarrollar lentigos sinenfermedad sistémica hasta un riesgo incrementado en la formación de hamartomas, hiperplasias y otras neoplasias.El prototipo de SLF es el síndrome de Peutz-Jeghers, pero también se incluyen dentro de este grupo de patologías el complejo de Carney, el síndrome LEOPARD, el síndrome de Bannayan-Riley-Ruvalcaba, la enfermedad de Cowden, el síndrome de Laugier-Hunziker, la disección arterial con lentiginosis y las lentiginosis benignas (lentiginosis unilateral parcial y centrofacial).La presencia de lentigos es uno de los hallazgos semiológicos más prominentes en estos cuadros y probablemente, más que una característica clínica asociada, sea el reflejo de la convergencia entre vías de señalización de importancia crucial para la embriogénesis, la diferenciación de la cresta neural, el crecimiento de los órganos diana y el funcionamiento de una amplia gama de tejidos.En el presente trabajo se realiza una descripción detallada de cada uno de los SLF, incluyendo el mecanismo molecular involucrado, las manifestaciones clínicas, la metodología diagnóstica, el seguimiento y el tratamiento.
Familial lentiginosis syndromes involve a broad phenotypic spectrum that includesfrom hereditary predisposition to presentlentigines without systemic disease to the increased risk of hamartomas, hyperplasia and other malignancies development.The prototype is Peutz-Jeghers syndrome, but Carney complex, LEOPARD syndrome, Bannayan-Riley-Ruvalcaba syndrome, Cowden's disease, Laugier-Hunziker syndrome, arterial dissection with lentigines and benign lentiginosis (partial and unilateral centrofaciallentigines) are also included in this group.The presence of lentigines is the most relevant finding and probably more than a clinical feature associated represents a reflection of the convergence of crucial signaling pathways that are important to embryogenesis, differentiation of the neural crest, target organs growth and funcional of a wide range of tissues.In this paper we perform a detailed description of these syndromes, including the molecular mechanisms involved, clinical manifestationsdiagnostic procedures, monitoring, and treatment.
Assuntos
Humanos , Criança , Complexo de Carney , Hiperpigmentação , Lentigo , Síndrome LEOPARD , Síndrome do Hamartoma Múltiplo , Síndrome de Peutz-JeghersRESUMO
O complexo de Carney é uma rara forma de neoplasia endócrina múltipla familial autossômica dominante. Está associado à alteração de pigmentação cutânea e mucosa, doença nodular adrenal pigmentosa primária, mixomas cardíacos e cutâneos, adenomas hipofisários funcionantes, neoplasia testicular, adenoma ou carcinoma de tireoide, além de cistos ovarianos. Aproximadamente 70% dos indivíduos diagnosticados com complexo de Carney têm pais afetados, e 30% apresentam forma esporádica. O objetivo deste estudo foi relatar um caso de complexo de Carney esporádico por mixoma cardíaco e tumor testicular. Ressalta-se a importância do caso por sua raridade e sua forma curiosa de apresentação. Homem, 33 anos, manifestou dois quadros de acidentes vasculares cerebrais em 4 meses. Na investigação apresentou pressão arterial elevada com sopro sistólico discreto e fraqueza muscular (força grau 4 em membro superior direito e grau 3 em membro inferior direito). História mórbida de tumor testicular de células de Sertoli há 7 anos com orquiectomia bilateral. História familiar sem particularidades. Na investigação, evidenciaram-se sobrecarga atrial esquerda ao eletrocardiograma e massa tumoral pedunculada compatível com mixoma atrial esquerdo ao ecocardiograma transesofágico. Foi configurada síndrome de Carney pela presença de dois critérios maiores, e o paciente foi submetido à atriotomia esquerda, com ressecção da massa tumoral e confirmação anatomopatológica. A curiosa apresentação do caso recorda que, diante de um caso de acidente vascular cerebral em paciente jovem, a suspeita clínica seja direcionada a causas mais raras. O complexo de Carney esporádico é raro, dificultando ainda mais a elucidação.
Carney complex is a rare form of autosomal dominant multiple endocrine neoplasia familial. Changing skin pigmentation and mucos, primary pigmented nodular adrenal disease, cardiac and cutaneous myxomas, functioning pituitary adenomas, testicular cancer, thyroid adenoma or carcinoma is associated, and ovarian cysts. Approximately 70% of individuals diagnosed with Carney complex have affected parents and 30% have sporadically. The aim of this study was to report a case of sporadic Carney complex due to cardiac myxoma and testicular tumor. We emphasized the importance of the case for its rarity and curious form of presentation. Man, 33, showed two episodes of strokes in 4 months. In research presented high blood pressure with mild systolic murmur and muscle weakness (grade 4 strengthin the right arm and grade 3 in the right lower limb). Morbid history of testicular Sertoli cell tumor 7 years ago with bilateral orchiectomy. No special family history. On investigation, left atrial enlargement and was evident on the electrocardiogram, and transesophageal echocardiogram revealed the presence of pedunculated tumor mass setting a left atrial myxoma. Carney's syndrome was characterized by the existence of two major criteria and patient underwent left atriotomy with resection of the tumor mass and anatomic-pathologic confirmation. The curious case presentation reminded us that before a case of stroke in a young patient should direct the clinical suspicion for rarer causes. The Carney complex sporadic is rare, yet difficult to elucidate.
Assuntos
Humanos , Masculino , Adulto , Complexo de Carney/diagnóstico , Mixoma/diagnóstico , Neoplasia Endócrina Múltipla/diagnóstico , Tumor de Células de Sertoli/diagnósticoRESUMO
Reportamos caso clínico de una mujer de 22 años quien presentó un fibroadenoma mixoide de localización mamaria. Previamente se había diagnosticado un microadenoma pituitario y tiroiditis con bocio difuso leve. Se realizó un estudio multidisciplinario para descartar otras localizaciones de tumores mixoides en el contexto del infrecuente síndrome de Carney.
We report a 22-year-old woman, who presented a myxoid fibroadenoma affecting the breast. Previously a pituitary microadenoma and thyroiditis with mild diffuse goiter was diagnosed. A multidisciplinary study was performed to rule out the location of other myxoid tumors in the context of infrequent Carney syndrome.
Assuntos
Humanos , Adulto , Feminino , Mixoma/complicações , Mixoma/patologia , Neoplasias da Mama/complicações , Neoplasias da Mama/patologia , Complexo de Carney/complicações , Complexo de Carney/patologia , FibroadenomaRESUMO
Lo que se ha dado en llamar melanoma de tipo animal es un tumor aún no bien determinado ni clasificado. Tiene similitudes clínicas e histopatológicas con el melanoma que se observa en los caballos de pelaje tordillo: un infiltrado alarmante, denso y extenso, de células que ocupan toda la dermis y aún el celular subcutáneo, acompañado sin embargo de un pronóstico benigno y larga sobrevida. El nombre propuesto por Zembowicz et ál., melanocitoma epitelioide pigmentado, parece más adecuado para esta rara variante de melanoma.
Animal-type melanoma is a rare distinct variant of melanoma, charac-terized by a dense proliferation of epithelioid and spindle-shaped mela-nocytes occupying the dermis and the hypodermis, and resembles theheavily pigmented melanomas as seen in grey horses. Only a limitednumber of cases have been reported and, as such, the clinical character-istics of this melanoma variant are incompletely understood. Despite thehigh mean thickness of the tumors, reports indicate a less aggressive behavior and a better outcome of this tumor when compared with conven-tional melanoma, but the underlying pathways related to this particularoutcome are still unknown. As proposed by Zembowicz et ál., the termpigmented epithelioid melanocitoma seems much more suitable.
Assuntos
Humanos , Feminino , Adulto , Melanoma/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Adulto , Imuno-Histoquímica , Nevo Azul/patologia , Nevo Pigmentado/metabolismo , Nevo Pigmentado/patologia , Proteínas de Neoplasias/análiseRESUMO
Carney Complex (CNC) and Multiple Endocrine Neoplasia type 1 (MEN1) are forms of multiple endocrine neoplasia of dominant autosomal inheritance. Diagnosis of CNC occurs when two major criteria (lentiginoses, primary pigmented nodular adrenocortical disease, cardiac and cutaneous myxomas, acromegaly, testicular neoplasias, thyroid cancer) are observed and/or a major criterion associated with a supplementary criterion (affected relative, PRKAR1A gene mutation) occurs. On the other hand, diagnosis for MEN1 occurs through detection of two or more tumors located at the pituitary gland, parathyroid and/or pancreatic cells. The present case describes a 55 year-old male patient, diagnosed with acromegaly, primary hyperparathyroidism and papillary thyroid cancer, exhibiting components that meet the diagnostic criteria of both conditions described. Despite the occurrence of only one sporadic association or the acromegaly per se being responsible for the papillary cancer, new molecular mechanisms may not be ruled out.
Complexo de Carney (CNC) e neoplasia endócrina múltipla tipo 1 (MEN1) são formas de neoplasias endócrinas múltiplas de herança autossômica dominante. O diagnóstico do CNC ocorre quando dois critérios maiores (lentiginose, doença nodular pigmentosa primária das adrenais, mixomas cardíacos e cutâneos, acromegalia, neoplasia testicular, carcinoma de tireóide) são observados e/ou um critério maior associado a um critério suplementar (familiar afetado, mutação do gene PRKAR1A) ocorre. Por outro lado, o diagnóstico de MEN1 dá-se pela detecção de dois ou mais tumores localizados na glândula hipofisária, paratireóide e/ou células pancreáticas. O presente caso descreve um homem de 55 anos, com diagnóstico de acromegalia, hiperparatireoidismo primário e carcinoma papilífero de tireóide, exibindo critérios diagnósticos para as duas condições descritas. Embora possa ter ocorrido apenas uma associação esporádica, ou a acromegalia per se tenha predisposto ao carcinoma papilífero, novos mecanismos moleculares podem estar envolvidos.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/patologia , Acromegalia/diagnóstico , Carcinoma Papilar/diagnóstico , Hiperparatireoidismo Primário/diagnóstico , Mutação , Neoplasia Endócrina Múltipla Tipo 1/genética , Linhagem , Fenótipo , Proteínas Proto-Oncogênicas/genética , Neoplasias da Glândula Tireoide/diagnósticoRESUMO
Os adenomas hipofisários familiares são condição rara, cuja descrição inicial foi em neoplasia endócrina múltipla tipo 1 e em complexo de Carney, doenças provocadas por mutações nos genes MEN1 e PRKAR1A respectivamente. O somatotropinoma familiar isolado é também uma síndrome clínica bem descrita, relacionada exclusivamente em pacientes com acrogigantismo. Os adenomas hipofisários de todos os tipos - não limitados aos somatotropinomas - podem ocorrer em cenário familiar na ausência do MEN1 e do complexo de Carney. Este fenótipo é denominado adenomas hipofisários familiares isolados. Nesses adenomas, os fenótipos do adenoma da hipófise, seja homogêneo ou heterogêneo, podem ocorrer em famílias. Os casos de adenomas hipofisários familiares isolados diferem do MEN1 em termos de baixa proporção de prolactinomas e maior frequência de somatotropinomas no coorte desses adenomas. Pacientes com esta doença são mais jovens e têm prolactinomas com maiores dimensões que aqueles portadores de adenoma hipofisário esporádico. A minoria das famílias com esses adenomas hipofisários (15%) trazem mutação no gene que codifica a proteína interatuante-receptora do aril-hidrocarboneto (aryl hydrocarbon receptor interacting protein AIP). Mutações nessa proteína estão presentes em somente metade dos casos de somatotropinoma familiar isolado, ocorrendo como parte dos coortes de adenomas hipofisários familiares isolados. Em famílias com mutações no gene da AIP, os adenomas hipofisários estão em fase invasiva em mais de 50% dos casos. Tais mutações são extremamente raras em pacientes com adenoma hipofisário esporádico. Esta revisão trata de adenomas hipofisários de origem familiar, em que se descrevem em detalhes os achados clínicos, patológicos e genéticos dessa afecção e direciona aspectos da abordagem clínica das famílias com a anomalia, portadoras ou não de mutações no gene AIP.
Familial pituitary adenomas are a rare condition and was firstly described in multiple endocrine neoplasia type 1(MEN1) and Carney's complex, which occur due to mutations in the genes MEN1 and PRKAR1A, respectively. Isolated familial somatotropinoma is also a well-described clinical syndrome related only to patients with acrogigantism. Pituitary adenomas of all types - not limited to isolated familial somatotropinoma - can occur in a familial setting in the absence of MEN1 and Carney's complex; this phenotype is termed familial isolated pituitary adenomas (FIPA). In these adenomas both homogeneous and heterogeneous pituitary adenoma phenotypes can occur within families. These adenomas differs from MEN1 in terms of a lower proportion of prolactinomas and more frequent somatotropinomas in the FIPA cohort. Patients with familial isolated pituitary adenomas are significantly younger at diagnosis and have significantly larger pituitary adenomas than matched sporadic pituitary adenoma counterparts. A minority of FIPA families overall (15%) exhibit mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene; AIP mutations are present in only half of isolated familial somatotropinoma kindreds occurring as part of the FIPA cohort. In families with AIP mutations, pituitary adenomas have a penetrance of over 50%. AIP mutations are extremely rare in patients with sporadic pituitary adenomas. This review deals with pituitary adenomas that occur in a familial setting, describes in detail the clinical, pathological and genetic features of familial isolated pituitary adenomas and addresses aspects of the clinical approach to FIPA families with and without AIP mutations.
Assuntos
Humanos , Adenoma , Hipófise , Neoplasias Hipofisárias , Sinais e SintomasRESUMO
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)-independent Cushing's syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules (1,2). PPNAD may occur in an isolated form or associated with a multiple neoplasia syndrome, the complex of spotty skin pigmentation, myxomas, and endocrine overactivity, or Carney complex, in which Cushing's syndrome is the most common endocrine manifestation (3). Molecular studies have led to the identification of several genes, defects in which may predispose PPNAD formation; all of these molecules play important role for the cAMP signaling pathway. This review intends to present the most recent knowledge of the pathology and molecular genetics of the benign bilateral adrenocortical lesions, as well as to discuss the modern tools for diagnostics and treatment of this condition.
A doença adrenocortical nodular pigmentada primária (PPNAD) é uma forma de hiperplasia adrenocortical bilateral que está freqüentemente associada com a síndrome de Cushing (SC) ACTH-independente, sendo caracterizada por glândulas adrenais de tamanho pequeno ou normal contendo múltiplos nódulos corticais pigmentados pequenos. PPNAD pode ocorrer de forma isolada ou associada com uma síndrome de neoplasia múltipla, o complexo de manchas pigmentadas na pele (lentigíneas), mixomas e hiperatividade endócrina, ou complexo de Carney, no qual a SC é a manifestação endócrina mais comum. Estudos moleculares levaram à identificação de vários genes que, quando mutados, podem predispor à formação da PPNAD; todas essas moléculas têm um papel importante na via de sinalização do AMPc. Esta revisão pretende apresentar os conhecimentos mais recentes sobre a patologia e a genética molecular das lesões adrenocorticais benignas bilaterais e discutir os modernos instrumentos para diagnóstico e tratamento dessa condição.
Assuntos
Humanos , Doenças do Córtex Suprarrenal/genética , Glândulas Suprarrenais/patologia , Síndrome de Cushing/etiologia , Transtornos da Pigmentação/genética , Doenças do Córtex Suprarrenal/complicações , Doenças do Córtex Suprarrenal/diagnóstico , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , AMP Cíclico/fisiologia , Hiperplasia/complicações , Hiperplasia/patologia , Neoplasia Endócrina Múltipla/complicações , Mutação/genética , Diester Fosfórico Hidrolases/genéticaRESUMO
O fibromixoma ou mixoma mamário é uma neoplasia mesenquimal benigna, rara, considerada uma forma de fibroma que se diferencia pela capacidade de o fibroblasto produzir mucina. Daí também se denomina mucinose focal. O fibromixoma pode apresentar-se nas formas mucocutânea, cardíaca e mamária. A relação com história familiar é vista em alguns casos e, se associada à neoplasia endócrina múltipla, caracteriza o chamado complexo de Carney ou complexo mixoma. A ocorrência de malignização para mixossarcoma é extremamente rara. O objetivo deste trabalho é relatar um caso clínico de fibromixoma mamário: paciente jovem, 22 anos, que aos 15 anos apresentou um nódulo de cerca de três centímetros na aréola direita, de consistência borrachosa. Submeteu-se à exérese cirúrgica da lesão na Santa Casa de Misericórdia de Vitória. O estudo histopatológico evidenciou fibromixoma mamário. Apresentou recidiva da lesão dois anos após, e esta foi crescendo lentamente. Em 2006, procurou novamente o serviço, com lesão nodular de cerca de quatro centímetros, lobulada, no mesmo local. Não apresentava outras lesões associadas. Submeteu-se a exérese cirúrgica, estudos histopatológico e imunoistoquímico, confirmando a recidiva do fibromixoma e descartando malignização.
The fibromyxomas or mamary myxoma is a rare benign mesenchymal neoplasm which is considered to be a form of fibroma and is characterized by the capacity of the fibroblast to produced mucin. Thus it is also called focal mucinous. The fibromyxoma can appear in mucocutaneous, cardiac, or mammary forms.In some cases, it is a related to family history, and if it is associated with multiple endocrinal neoplasm, it characterizes the so-called Carney complex or myxoma complex. The occurrence of malignancy for a myxosarcoma is extremely rare. This paper aims to relate a clinical case study of mammary fibromyxoma: a young patient, 22 years old, who happened to have a three-centimeter foamy growth in the right areola when she was 15 years. This young patient underwent a surgery at Santa Casa de Misericordia in Vitória, ES, and had the growth extracted. The histopathological study confirmed the presence of a mammary fibromyxoma. After two years, a lesion had reappeared in the same place, and it grew slowly. In 2006 same patient seeked again the service with a nodular lesion of about four centimeters, lobuled, in the same location. No other associated lesions were found. She was submitted to surgical extraction, histopathological and immunohistochemical investigations, confirming the fibromyxoma.recurrence without showing malignancy.