Asunto(s)
Adenoma , Imagen por Resonancia Magnética , Neoplasias Hipofisarias , Humanos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/patología , Adenoma/patología , Adenoma/diagnóstico por imagen , Femenino , Síndrome , Adulto , Persona de Mediana Edad , MasculinoRESUMEN
TITLE: Adenoma hemorrágico que imita a un aneurisma de la arteria comunicante anterior.
Asunto(s)
Adenoma , Aneurisma Intracraneal , Humanos , Aneurisma Intracraneal/diagnóstico , Aneurisma Intracraneal/diagnóstico por imagen , Diagnóstico Diferencial , Adenoma/diagnóstico , Adenoma/diagnóstico por imagen , Adenoma/complicaciones , Femenino , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/complicaciones , Masculino , Persona de Mediana Edad , Angiografía CerebralRESUMEN
INTRODUCTION: Sellar metastases (SM) are rare manifestations of malignancy. Breast and lung cancer are the most common primary tumors. Most cases are diagnosed in patients with advanced malignant disease; however, symptoms of pituitary involvement can precede the diagnosis of the primary tumor. METHODS: Retrospective analysis of symptoms at presentation, hormonal, radiological and histological findings, management, and outcome of patients with SM from 2009 to 2020. RESULTS: Eighteen patients'cases were included, 11 with histological confirmation. Median (m) age was 53 years (range 35-75), 53% male. Primary malignant tumors: 8 lungs, 6 breast, 1 follicular thyroid carcinoma, 1 Hodgkin lymphoma, and 2 clear cell renal carcinomas. The m time between the diagnosis of the primary neoplasm and the occurrence of the SM was 108 months (range: 11-180). In 8 patients the diagnosis of the primary neoplasm was made after the finding of the symptomatic sellar mass. Insipidus diabetes, adenohypophysis deficit, visual disorders, headache, and cranial nerve deficits were evident in 78, 77, 61, 39 and 39% of the cases, respectively. Fifteen patients harbored supra / parasellar masses, in three a lesion was limited to the pituitary gland, and stalk. Eleven out of 18 (61.1%) of the patients were operated on by the trans-sphenoidal approach, for diagnostic and / or decompressive purposes. Eighteen died, with a median survival time of 6 months (1-36). DISCUSSION: In the presence of a pituitary lesion with diffuse gadolinium uptake, associated with insipidus diabetes and / or visual disorder SM should be suspected even in patients without a history of oncological disease.
Introducción: La región selar es un sitio infrecuente de metástasis, encontrándose en el 1% de las cirugías hipofisarias. Los tumores primarios más habituales son mama y pulmón. En general son diagnosticadas en pacientes con enfermedad avanzada, aunque pueden ser el debut de la enfermedad oncológica. Métodos: Análisis retrospectivo de las características clínicas, bioquímicas, radiológicas de pacientes con metástasis selares o hipofisarias (MS) durante el periodo 2009-2020. Resultados: Se reportaron 18 casos de pacientes, 11 de ellos con confirmación histológica. La mediana de edad fue 53 años (rango: 35-75), 53% hombres. La localización del tumor primario fue: 8 pulmón, 6 mama, 1 carcinoma folicular de tiroides, 1 linfoma Hodgkin y 2 carcinomas renales de células claras. La media de tiempo entre el diagnóstico del tumor primario y la aparición de la MS -en los casos de presentación metacrónica- fue 108 meses (rango: 11-180). En 8 pacientes (44.4%), el diagnóstico de la neoplasia primaria se hizo a partir del hallazgo de la masa selar. Diabetes insípida, hipopituitarismo, trastornos visuales, oftalmoplejía y cefalea se presentaron en el 78, 77, 61, 39 y 39%, respectivamente. Quince pacientes presentaron masas con extensión supra/paraselar; y 3 lesión limitada a la hipófisis y tallo. Fueron operados 11/18 por vía transesfenoidal, para diagnóstico y/o descompresión. Fallecieron 17, con una mediana de sobrevida de 6 meses (1- 36). Discusión: La sospecha de MS debe estar presente ante una masa selar y supraselar con captación difusa del gadolinio, diabetes insípida, hipopituitarismo y/o disfunción visual, aun en pacientes sin antecedentes oncológicos.
Asunto(s)
Neoplasias Hipofisarias , Humanos , Persona de Mediana Edad , Masculino , Femenino , Anciano , Adulto , Estudios Retrospectivos , Neoplasias Hipofisarias/secundario , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/patología , Neoplasias Hipofisarias/terapia , Imagen por Resonancia MagnéticaRESUMEN
Hyperprolactinemia is a frequent cause of menstrual irregularity, galactorrhea, hypogonadism, and infertility. The most common etiologies of hyperprolactinemia can be classified as physiological, pharmacological, and pathological. Among pathological conditions, it is essential to distinguish prolactinomas from other tumors and pituitary lesions presenting with hyperprolactinemia due to pituitary stalk disconnection. Proper investigation considering clinical data, laboratory tests, and, if necessary, imaging evaluation, is important to identify the correctcause of hyperprolactinemia and manage the patient properly. This position statement by the Brazilian Federation of Gynecology and Obstetrics Associations (Febrasgo) and Brazilian Societyof Endocrinology and Metabolism (SBEM) addresses the recommendations for measurement of serum prolactin levels and the investigations of symptomatic and asymptomatic hyperprolactinemia and medication-induced hyperprolactinemia in women.
Asunto(s)
Hiperprolactinemia , Neoplasias Hipofisarias , Prolactinoma , Embarazo , Humanos , Femenino , Hiperprolactinemia/diagnóstico , Neoplasias Hipofisarias/diagnóstico , Brasil , Prolactina , Prolactinoma/diagnósticoRESUMEN
PURPOSE: We studied a pediatric group of patients with sellar-suprasellar tumors, aiming to develop a convolutional deep learning algorithm for radiological assistance to classify them into their respective cohort. METHODS: T1w and T2w preoperative magnetic resonance images of 226 Chilean patients were collected at the Institute of Neurosurgery Dr. Alfonso Asenjo (INCA), which were divided into three classes: healthy control (68 subjects), craniopharyngioma (58 subjects) and differential sellar/suprasellar tumors (100 subjects). RESULTS: The PPV among classes was 0.828±0.039, and the NPV was 0.919±0.063. Also explainable artificial intelligence (XAI) was used, finding that structures that are relevant during diagnosis and radiological evaluation highly influence the decision-making process of the machine. CONCLUSION: This is the first experience of this kind of study in our institution, and it led to promising results on the task of radiological diagnostic support based on explainable artificial intelligence (AI) and deep learning models.
Asunto(s)
Craneofaringioma , Aprendizaje Profundo , Imagen por Resonancia Magnética , Neoplasias Hipofisarias , Humanos , Craneofaringioma/diagnóstico por imagen , Craneofaringioma/diagnóstico , Craneofaringioma/cirugía , Niño , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/diagnóstico , Masculino , Femenino , Imagen por Resonancia Magnética/métodos , Adolescente , PreescolarRESUMEN
It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to inheritable causes. Since this estimate was reported, however, multiple genetic defects driving syndromic and nonsyndromic somatotrophinomas have been unveiled. This heterogeneous genetic background results in overlapping phenotypes of GH excess. Genetic tests should be part of the approach to patients with acromegaly and gigantism because they can refine the clinical diagnoses, opening the possibility to tailor the clinical conduct to each patient. Even more, genetic testing and clinical screening of at-risk individuals have a positive impact on disease outcomes, by allowing for the timely detection and treatment of somatotrophinomas at early stages. Future research should focus on determining the actual frequency of novel genetic drivers of somatotrophinomas in the general population, developing up-to-date disease-specific multi-gene panels for clinical use, and finding strategies to improve access to modern genetic testing worldwide.
Asunto(s)
Acromegalia , Pruebas Genéticas , Gigantismo , Humanos , Acromegalia/genética , Acromegalia/diagnóstico , Acromegalia/terapia , Gigantismo/genética , Gigantismo/diagnóstico , Neoplasias Hipofisarias/genética , Neoplasias Hipofisarias/diagnóstico , Adenoma Hipofisario Secretor de Hormona del Crecimiento/genética , Adenoma Hipofisario Secretor de Hormona del Crecimiento/diagnóstico , Adenoma Hipofisario Secretor de Hormona del Crecimiento/terapiaRESUMEN
Pituitary adenomas are benign tumors of the anterior portion of the pituitary gland (adenohypophysis), representing the 25% of all the tumor alterations. Pituitary adenomas are classified by the type of hormone secreted, cellularity, size, and structural alterations by the hormonal segregation. The diagnosis consists on the histopathological identification of cell types and the image-guided by magnetic resonance or tomography; the treatment can be both pharmacological and surgical. Metabolic Syndrome is the set of clinical conditions that increase the risk of cardiovascular diseases with an estimated prevalence of 25% worldwide. The alterations of metabolic syndrome are obesity, hypertension, dyslipidemia, insulin resistance, and diabetes mellitus type II. Pituitary adenomas and metabolic syndrome have an important relationship, hormone-secreting by pituitary adenomas affects a myriad of signaling pathways, which allows a favorable environment for the appearance of the metabolic syndrome. Moreover, patients with pituitary adenomas are shown to have an improvement in metabolic parameters after the medical/surgical treatment. The objective of this review is to explore the possible mechanisms through which PAs contributes to MetSx.
Asunto(s)
Adenoma , Síndrome Metabólico , Neoplasias Hipofisarias , Humanos , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/terapia , Neoplasias Hipofisarias/diagnóstico , Síndrome Metabólico/complicaciones , Adenoma/complicaciones , Adenoma/terapia , Adenoma/diagnóstico , Hipófisis/patología , HormonasRESUMEN
Hypophysitis is a pathology with low incidence and prevalence. Likewise, deep fungal infections in immunocompetent patients also represent a rare phenomenon. Even rarer is the case described below, where these two mentioned elements are combined, namely: pituitary cryptococcoma or granulomatous hypophysitis caused by said pathogen in a host without altered immune response. After research in PubMed, there are limited cases in the medical literature of granulomatous hypophysitis caused by Cryptococcus spp., which simulated a pituitary macroadenoma by clinical and imaging manifestations. We did not find reports in which there is no evidence of involvement of the meningeal tissue. The fungal etiology is scarcely described in the reference guidelines for hypophysitis and we believe that Cryptococcus spp. it should be taken into account in the differential diagnosis of secondary granulomatous hypophysitis since it is a ubiquitous pathogen and the treatment is substantially different from other entities. It becomes more relevant given the current trend towards the use of high-dose systemic glucocorticoids for the treatment of hypophysitis, which could have generated greater damage if the correct diagnosis had not been made.
La hipofisitis es una afección con baja incidencia y prevalencia. Asimismo, las infecciones profundas por hongos en pacientes inmunocompetentes también representan un fenómeno infrecuente. Más raro aún es el caso que se describe a continuación, en donde se conjugan estos dos elementos mencionados, a saber: cryptococcoma hipofisario o hipofisitis granulomatosa causado por dicho patógeno en un huésped sin alteración de la respuesta inmune. Luego de una búsqueda realizada en PubMed, existen limitados casos en la literatura médica de hipofisitis granulomatosa por Cryptococcus spp., que simuló por manifestaciones clínicas e imagenológicas un macroadenoma hipofisario. No encontramos informes en los que no haya evidencia de afectación del tejido meníngeo. La etiología micótica está escasamente descrita en las guías de referencia para hipofisitis y creemos que Cryptococcus spp. debe ser tenido en cuenta en el diagnóstico diferencial de las hipofisitis granulomatosas secundarias dado que es un patógeno ubicuo y el tratamiento es sustancialmente diferente a otras entidades. Cobra mayor relevancia ante la tendencia actual al uso de glucocorticoides sistémicos a altas dosis para el tratamiento de la hipofisitis, que podría haber generado mayor daño de no haberse hecho el diagnóstico correcto.
Asunto(s)
Hipofisitis Autoinmune , Hipofisitis , Neoplasias Hipofisarias , Humanos , Hipofisitis Autoinmune/diagnóstico , Hipofisitis Autoinmune/tratamiento farmacológico , Hipofisitis Autoinmune/patología , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Hipofisitis/complicaciones , Hipofisitis/diagnóstico , Neoplasias Hipofisarias/diagnóstico , Glucocorticoides/uso terapéuticoRESUMEN
Objective: Data regarding rare FPAs from India, a resource limited setting, are limited. We describe a case series of rare FPAs from a single center in western India. Materials and methods: This was a retrospective case record review of patients diagnosed between January 2010 and July 2022. The diagnosis was based on biochemical(inappropriately elevated serum FSH/LH) and pathologic (positive immunostaining for FSH/LH) features in patients with FGA, and elevated serum thyroid hormones and normal/elevated TSH in patients with TSHomas. Results: We identified 11 patients with a total of six FGAs (median age 43.5 years, five men, one FGA cosecreting TSH, median largest dimension 40 mm, range 33-60 mm) and six TSHomas (median age 34.5 years, four women, two TSHomas cosecreting GH, median largest dimension 42.5 mm, range 13-60 mm). Symptoms of sellar mass effects led to pituitary imaging in most patients with FGA. Patients with TSHomas had symptoms of excess hormone secretion (GH/TSH) or sellar mass effects. The TSHomas that cosecreted GH/FSH were larger than those secreting only TSH. Transsphenoidal resection was the most common first-line therapy but significant residual disease was frequent (3 out of 6 FGAs and 4 out of 5 TSHomas). Conclusion: This is the first and second case series of FGAs and TSHomas, respectively, from India. In this study, TSHomas presented at younger age, were larger andhad low surgical cure rates.
Asunto(s)
Adenoma , Neoplasias Hipofisarias , Masculino , Humanos , Femenino , Adulto , Persona de Mediana Edad , Neoplasias Hipofisarias/diagnóstico , Estudios Retrospectivos , Adenoma/diagnóstico , Tirotropina , Gonadotropinas , Hormona Folículo EstimulanteRESUMEN
INTRODUCTION: Pituitary neuroendocrine tumors (PitNETs) represent 15-18.2% of all intracranial tumors. Their clinical presentation can range from chronic headache, visual defects, hypopituitarism to hormone excess syndromes. PitNETS are commonly classified as functioning neuroendocrine tumors (F-PitNETs) and non-functioning neuroendocrine tumors (NF-PitNETs). At the moment, new classification has emerged based on cell lineages. Almost 50% of all patients with PitNETs require surgical intervention, and about 25% of these have residual and persistent disease that may require additional management. SUBJECTS AND METHODS: A retrospective cohort of medical records of patients with PitNETs, aiming to describe the incidence of recurrence of patients who received surgical treatment over a 12 month follow up period at San Jose Hospital (SJH) in Bogotá, Colombia, over an observation period of 10 years. Furthermore, clinical presentation, biochemical characteristics and immunohistochemistry, postoperative complications are detailed. RESULTS: Eight hundred and eighty-seven patients with pituitary tumors were included in the cohort; 83% (737/887) had a diagnosis of PitNET. Of these, 18.9% (140) received surgical management. The majority 58% (98/140) had nonfunctional-PitNETs (NF-PitNETs), followed by growth-hormone-secreting pituitary adenoma (22.1%; 33/140), adrenocorticotropic- hormone-secreting pituitary adenoma (9.3%; 13/140), and prolactinomas (9.3%; 13/140). A recurrence was found in 45.71% (64/140), subclassified as biochemical in 15.71% (22/140), controlled with medications in 20% (28/140), and remission occurred in 18.57% (26/140). CONCLUSION: Clinical presentation and incidence of recurrence in patients with PitNETs in a referral center in Colombia are similar to other surgical cohorts with low cure rates and high recurrence.
Asunto(s)
Adenoma Hipofisario Secretor de ACTH , Adenoma , Tumores Neuroendocrinos , Neoplasias Hipofisarias , Humanos , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/epidemiología , Neoplasias Hipofisarias/terapia , Colombia/epidemiología , Estudios Retrospectivos , Tumores Neuroendocrinos/diagnóstico , Tumores Neuroendocrinos/epidemiología , Tumores Neuroendocrinos/cirugía , Adenoma Hipofisario Secretor de ACTH/cirugía , Adenoma/diagnóstico , Adenoma/epidemiología , Adenoma/terapia , HormonasRESUMEN
Objective: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by its clinical variability and complexity in diagnosis and treatment. We performed both clinical and molecular descriptions of four families with MEN1 in a follow-up at a tertiary center in Brasília. Methods: From a preliminary review of approximately 500 medical records of patients with pituitary neuroendocrine tumor (PitNET) from the database of the Neuroendocrinology Outpatient Clinic of the University Hospital of Brasília, a total of 135 patients met the criteria of at least two affected family members. From this cohort, we have identified 34 families: only four with a phenotype of MEN1 and the other 30 families with the phenotype of familial isolated pituitary adenoma (FIPA). Eleven patients with a clinical diagnosis of MEN1 from these four families were selected. Results: Variants in MEN1 gene were identified in all families. One individual from each family underwent genetic testing using targeted high-throughput sequencing (HTS). All patients had primary hyperparathyroidism (PHPT), and the second most common manifestation was PitNET. One individual had well-differentiated liposarcoma, which has been previously reported in a single case of MEN1. Three variants previously described in the database and a novel variant in exon 2 have been found. Conclusions: The study allowed the genotypic and phenotypic characterization of families with MEN1 in a follow-up at a tertiary center in Brasília.
Asunto(s)
Adenoma Hipofisario Secretor de Hormona del Crecimiento , Neoplasia Endocrina Múltiple Tipo 1 , Tumores Neuroendocrinos , Neoplasias Hipofisarias , Humanos , Neoplasia Endocrina Múltiple Tipo 1/diagnóstico , Neoplasia Endocrina Múltiple Tipo 1/genética , Neoplasia Endocrina Múltiple Tipo 1/patología , Brasil/epidemiología , Adenoma Hipofisario Secretor de Hormona del Crecimiento/genética , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/genética , Neoplasias Hipofisarias/patologíaRESUMEN
Coronavirus disease (SARS-CoV-2/COVID-19) is responsible for a wide variety of extrapulmonary manifestations, among which direct or indirect neurological compromise stands out. Pituitary apoplexy is a clinical and neurosurgical entity of variable severity, usually associated with a pituitary adenoma. Literature is scarce regarding the association between these diseases. This paper reports a case of pituitary apoplexy, manifested concomitantly to the diagnosis of COVID 19 in a patient with unknown pituitary macroadenoma, and its therapeutic management, reviewing the mechanisms potentially underlying the link between both entities.
La infección por coronavirus (SARS-CoV-2/COVID-19) es responsable de un diverso rango de manifestaciones extrapulmonares entre las cuales se destaca el compromiso neurológico directo o indirecto. La apoplejía hipofisaria es una entidad médica y neuroquirúrgica de gravedad variable que suele asociarse a la presencia de un adenoma subyacente. Un escaso número de reportes han vinculado estas dos enfermedades entre sí. Este trabajo describe un caso de apoplejía hipofisaria manifestada clínicamente en forma concomitante al diagnóstico de COVID 19, en un paciente con macroadenoma hipofisario desconocido y su manejo terapéutico, revisando los mecanismos potencialmente subyacentes al nexo entre ambas entidades.
Asunto(s)
Adenoma , COVID-19 , Apoplejia Hipofisaria , Neoplasias Hipofisarias , Humanos , SARS-CoV-2 , COVID-19/complicaciones , Apoplejia Hipofisaria/etiología , Apoplejia Hipofisaria/complicaciones , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/cirugía , Adenoma/complicaciones , Adenoma/diagnóstico , Adenoma/cirugíaRESUMEN
The diagnostic algorithm and nomenclature of pituitary neuroendocrine tumors have evolved over the past decade, beginning with simpler categorical schemes focused on histomorphologic features and moving to a more sophisticated lineage-specific categorization. This contemporary overview highlights a multimodal approach to pituitary neuroendocrine tumors with a focus on changes in nomenclature, classification, and subclassification; including, brief comments on treatment, and new guidelines for genetic screening, particularly for young patients with such neoplasms.
Asunto(s)
Tumores Neuroendocrinos , Neoplasias Hipofisarias , Humanos , Tumores Neuroendocrinos/diagnóstico , Tumores Neuroendocrinos/patología , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/genéticaRESUMEN
Cystic lesions arising in the sellar region are not uncommon and encompass cystic pituitary adenomas, Rathke cleft cysts, craniopharyngiomas, and arachnoid cysts. Their clinical presentation may be similar, including headache, visual field defects, and anterior pituitary hormone deficits, which makes differential diagnosis challenging. On the other hand, imaging features may indicate certain pathologies. In this approach to the patient, we describe the case of a patient who presented with right temporal hemianopsia and a sellar/suprasellar cystic lesion, which was determined to be Rathke cleft cyst. We discuss the imaging characteristics that may suggest a particular diagnosis between Rathke cleft cyst, cystic pituitary adenoma, craniopharyngioma, and arachnoid cyst and propose a flowchart for aiding in the imaging differential diagnosis.
Asunto(s)
Adenoma , Quistes del Sistema Nervioso Central , Craneofaringioma , Neoplasias Hipofisarias , Adenoma/diagnóstico , Adenoma/patología , Quistes del Sistema Nervioso Central/diagnóstico , Craneofaringioma/diagnóstico , Craneofaringioma/patología , Diagnóstico Diferencial , Humanos , Imagen por Resonancia Magnética/métodos , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/patologíaAsunto(s)
Enfermedades de los Nervios Craneales , Enfermedades del Nervio Oculomotor , Enfermedad de Parkinson , Apoplejia Hipofisaria , Neoplasias Hipofisarias , Trastornos de la Pupila , Humanos , Apoplejia Hipofisaria/complicaciones , Apoplejia Hipofisaria/diagnóstico , Neoplasias Hipofisarias/diagnóstico , Trastornos de la Pupila/diagnóstico , Trastornos de la Pupila/etiología , Nervios Craneales , Parálisis , Imagen por Resonancia Magnética , Enfermedades del Nervio Oculomotor/diagnóstico , Enfermedades del Nervio Oculomotor/etiologíaRESUMEN
INTRODUCTION: Non-functioning pituitary adenomas (NFPAs) are clinically silent tumors and the second most common pituitary adenoma. Surgery is the mainstay of treatment as there is, as yet, no effective medical treatment. AREAS COVERED: We present current knowledge on the clinical diagnosis, histopathological classification, molecular data, and management strategies in NFPA. EXPERT OPINION: NFPA is a heterogeneous group of tumors, in respect to their origin and clinical course. In recent years, research on pathology and molecular biology have advanced our knowledge of NFPA pathogenesis. NFPA exhibit, in the majority of cases, an indolent behavior, with satisfactory response to treatment. In aggressive cases, multimodal management is needed; however, even this approach may be insufficient, so the development of new treatments is warranted for better management. In this setting, the understanding of the mechanisms involved in the genesis and progression of NFPA is crucial for the identification and development of directed treatments with higher chances of response.
Asunto(s)
Adenoma , Neoplasias Hipofisarias , Adenoma/diagnóstico , Adenoma/terapia , Humanos , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/terapia , Resultado del TratamientoRESUMEN
Hyperprolactinemia, defined by a level of serum prolactin above the standard upper limit of normal range, is a common finding in clinical practice and prolactinomas are the main pathological cause. Prolactinomas lead to signs and symptoms of hormone oversecretion, such as galactorrhea and hypogonadism, as well as symptoms of mass effect, including visual impairment, headaches and intracranial hypertension. Diagnosis involves prolactin measurement and sellar imaging, but several pitfalls are involved in this evaluation, which may difficult the proper management. Treatment is medical in the majority of cases, consisting of dopamine agonists, which present high response rates, with a very favorable safety profile. Major adverse effects that should be monitored consist of cardiac valvulopathy and impulse control disorders. Other treatment options include surgery and radiotherapy. Temozolomide may be used for aggressive or malignant carcinomas. Finally, pregnancy outcomes are similar to general population even when dopamine agonist treatment is maintained.
Asunto(s)
Neoplasias Hipofisarias , Prolactinoma , Antineoplásicos Alquilantes/uso terapéutico , Trastornos Disruptivos, del Control de Impulso y de la Conducta/diagnóstico , Trastornos Disruptivos, del Control de Impulso y de la Conducta/etiología , Agonistas de Dopamina/uso terapéutico , Femenino , Galactorrea/etiología , Humanos , Hiperprolactinemia/etiología , Hipogonadismo/etiología , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/epidemiología , Neoplasias Hipofisarias/terapia , Embarazo , Prolactina/sangre , Prolactinoma/complicaciones , Prolactinoma/diagnóstico , Prolactinoma/epidemiología , Prolactinoma/terapia , Silla Turca/diagnóstico por imagen , Temozolomida/uso terapéuticoRESUMEN
OBJECTIVE: Pituitary adenomas (PA) are rare in young patients, and additional studies are needed to fully understand their pathogenesis in this population. We describe the clinical and genetic characteristics of apparently sporadic PA in a cohort of young patients. DESIGN: Clinical and molecular analysis of 235 patients (age ≤ 30 years) with PA. Clinicians from several Spanish and Chilean hospitals provided data. METHODS: Genetic screening was performed via next-generation sequencing and comparative genomic hybridization array. Clinical variables were compared among paediatric, adolescent (<19 years) and young adults' (≥19-30 years) cohorts and types of adenomas. Phenotype-genotype associations were examined. RESULTS: Among the total cohort, mean age was 17.3 years. Local mass effect symptoms were present in 22.0%, and prolactinomas were the most frequent (44.7%). Disease-causing germline variants were identified in 22 individuals (9.3%), more exactly in 13.1 and 4.7% of the populations aged between 0-19 and 19-30 years, respectively; genetically positive patients were younger at diagnosis and had larger tumour size. Healthy family carriers were also identified. CONCLUSIONS: Variants in genes associated with syndromic forms of PAs were detected in a large cohort of apparently sporadic pituitary tumours. We have identified novel variants in well-known genes and set the possibility of incomplete disease penetrance in carriers of MEN1 alterations or a limited clinical expression of the syndrome. Despite the low penetrance observed, screening of AIP and MEN1 variants in young patients and relatives is of clinical value.
Asunto(s)
Adenoma , Neoplasias Hipofisarias , Adenoma/diagnóstico , Adenoma/epidemiología , Adenoma/genética , Adolescente , Adulto , Edad de Inicio , Niño , Preescolar , Chile/epidemiología , Estudios de Cohortes , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Mutación de Línea Germinal , Humanos , Lactante , Recién Nacido , Pérdida de Heterocigocidad , Masculino , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/epidemiología , Neoplasias Hipofisarias/genética , España/epidemiología , Adulto JovenRESUMEN
OBJECTIVE: To evaluate the prevalence of differentiated thyroid cancer (DTC) in patients with non-GH secreting pituitary adenomas [NGHPA group: non-functioning (NFPA), prolactin (PRL) and corticotropin (ACTH)-secreting adenomas] compared to patients with acromegaly, a pituitary disease that has been associated with increased risk for thyroid cancer. PATIENTS AND METHODS: Prospective, cross-sectional study involving consecutive outpatients followed in our institution with diagnosis of acromegaly (n = 71; 43 women, median age 57 yrs) and NGHPA (n = 57; 38 women, median age 48 yrs.; PRL (n = 35), ACTH (n = 7), NFPA (n = 15). All participants were subjected to thyroid ultrasound (US) by the same examiner, and US-guided fine needle aspiration (FNA) biopsy when indicated. RESULTS: Thyroid volume was higher in acromegaly than in NGHPA (median 12.5 ml vs 6.3 ml; p < 0.0001), and thyroid nodules were present in 27/71 (38.0%) of acromegaly patients and in 14/57 (24.6%) of NGHPA group. FNA was indicated in 15/27 (55.5%) of acromegaly patients [Bethesda I (n = 1); II (n = 11), III (n = 1), two patients refused FNA], and in 8/14 (57.1%) of the NGHPA group [Bethesda I (n = 2); II (n = 4); V (n = 1); VI (n = 1)]. The two patients of NGHPA group with Bethesda V and VI were operated and papillary carcinoma was confirmed histologically. CONCLUSION: DTC was not detected in our acromegaly patients and its presence in patients with NGHPA suggests that DTC predisposition is not related to GH excess.
Asunto(s)
Acromegalia/complicaciones , Neoplasias Hipofisarias/complicaciones , Neoplasias de la Tiroides/complicaciones , Acromegalia/diagnóstico , Acromegalia/epidemiología , Biopsia con Aguja Fina , Estudios Transversales , Femenino , Hormona de Crecimiento Humana/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/epidemiología , Prevalencia , Estudios Prospectivos , Riesgo , Glándula Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/epidemiología , UltrasonografíaRESUMEN
PURPOSE: Pituitary abscesses (PAs) are a rare clinical entity which may arise from normal pituitary tissue or underlying lesions within the gland. Rathke's cleft cysts (RCCs) are not commonly associated with the development of PA. METHODS: Retrospective chart review of three patients with PAs within RCCs at a single university center and review of the literature. RESULTS: Three cases are reported. The first case presented with fever and headache and a history of prior surgery due to RCC and a recent respiratory tract infection. The second case had a history of recent skin infections and presented with sudden onset headache and hypopituitarism. In the third case, chronic visual field impairment prompted an ophthalmologic evaluation resulting in a diagnosis of an adenoma and an infected RCC. In all three cases, an endoscopic endonasal approach was performed to drain infected tissue and allowed microbiological identification of gram-positive cocci, followed by treatment with antibiotics for at least three weeks. Cases in the literature are scarce and the diagnosis is usually made intraoperatively due to non-specific manifestations and imaging. PAs arising from underlying pituitary lesions are less common than primary PAs. Differential diagnosis should include pituitary apoplexy, hypophysitis and other cystic lesions. CONCLUSION: PAs occurring in RCCs are infrequent. Clinical manifestations are commonly subacute, without septic symptoms. Imaging is usually non-specific. Preoperative diagnosis is infrequent and a broad differential diagnosis should be considered. Empirical antimicrobial therapy should be initiated and adjusted after obtaining cultures to reduce the rate of recurrence and improve clinical outcomes.