Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno / Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case

Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing showed a c.117_120delGTCT TMEM127 gene mutation. She was subjected to a laparoscopic bilateral adrenal excision. After five years of follow up, no recurrence of the disease has been recorded.

Enhancement patterns of adrenal nodules on magnetic resonance imaging

ABSTRACT Objective: To compare enhancement patterns of typical adrenal adenomas, lipid-poor adenomas, and non-adenomas on magnetic resonance imaging (MRI). Materials and Methods: Evaluation of adrenal nodules larger than 1.0 cm, with at least 2-year follow-up, evaluated on MRI in January 2007 and December 2016. Two different protocols were included - upper abdomen MRI (delayed phase after 3 minutes) and abdomen and pelvis MRI (delayed phase after 7 minutes) - and nodules were divided in typical adenomas (characterized on out-of-phase MRI sequence), lipid-poor adenomas (based on follow-up imaging stability) and non-adenomas (based on pathological finding or follow-up imaging). T2-weighted and enhancement features were analyzed (absolute and relative washout and enhancement curve pattern), similarly to classic computed tomography equations. Results: Final cohort was composed of 123 nodules in 116 patients (mean diameter of 1.8 cm and mean follow up time of 4 years and 3 months). Of them, 98 (79%) nodules had features of typical adenomas by quantitative chemical shift imaging, and demonstrated type 3 curve pattern in 77%, mean absolute and relative washout of 29% and 16%, respectively. Size, oncologic history and T2-weighted features showed statistically significant differences among groups. Also, a threshold greater than 11.75% for absolute washout on MRI achieved sensitivity of 71.4% and specificity of 70.0%, in differentiating typical adenomas from non-adenomas. Conclusion: Calculating absolute washout of adrenal nodules on MRI may help identifying proportion of non-adenomas.

Mielolipoma suprarrenal / Adrenal myelolipoma

Introducción: Los mielolipomas suprarrenales son tumores benignos inusuales compuestos por tejido adiposo maduro y células hematopoyéticas. Objetivo: Presentar un nuevo caso de mielolipoma suprarrenal y describir sus características clínicas, imaginológicas y la terapéutica aplicada. Caso clínico: Paciente femenina de 68 años de edad, con antecedentes de hipertensión arterial, diabetes mellitus tipo 2 y obesidad mórbida, que ingresó en el Servicio de Cirugía General del Hospital Militar Central Dr. Carlos J. Finlay, por presentar dolor en el hipocondrio derecho. Al examen físico presentaba ligero tinte ictérico de piel y mucosas, dolor abdominal difuso a predominio de hipocondrio derecho, sin reacción peritoneal, signo de Murphy negativo. En el tórax se auscultaron crepitantes bibasales y el murmullo vesicular disminuido. Los exámenes de analítica sanguínea demostraron pruebas hepáticas con valores elevados y eritrosedimentación acelerada. La tomografía axial computarizada abdominal reveló una tumoración, que se correspondía conla glándula suprarrenal derecha, que medía110x135x90 mm. Se realizó la suprarrenalectomía derecha que transcurrió sin complicaciones. El diagnóstico histopatológico fue mielolipoma suprarrenal. La paciente evolucionó satisfactoriamente. Conclusiones: El mielolipoma suprarrenal no presenta un cuadro clínico característico y en muchas ocasiones su hallazgo es incidental. La tomografía axial computarizada es la técnica de elección para el diagnóstico imaginológico de esta lesión. En las masas mayores de 6 cm está indicado el tratamiento quirúrgico, y la cirugía convencional, es un método útil para este fin(AU)

Introduction: Adrenal myelolipomas are unusual slow-growing benign tumors, composed of mature adipose tissue and hematopoietic cells. Objective: To present a new case of adrenal myelolipoma as well as to describe its clinical, imaging and applied therapeutic characteristics. Clinical Case: Female patient of 68 years old, with a history of hypertension, diabetes mellitus type 2 and obese, who was admitted to the General Surgery Service of the Hospital Militar Central Dr. Carlos J. Finlay, for presenting pain in the right hypochondrium. In the general physical examination, she presented a morbid obesity with a slight icteric dye of the skin and mucous membranes, and in the abdomen diffuse abdominal pain was observed, predominantly in the right hypochondrium without peritoneal reaction and negative Murphy sign; no palpated visceromegalias. Bi-basal crackles were heard in the thorax with diminished vesicular murmur. The blood tests performed showed liver tests with high values, and accelerated erythrosedimentation. In the computerized axial tomography an abdominal tumor was observed that impressed to correspond with the right adrenal gland, and that it mediates 110x135x90 mm. The right adrenalectomy was performed without complications. The histopathological diagnosis was an adrenal myelolipoma. The patient has evolved satisfactorily. Conclusions: Adrenal myelolipoma does not present a characteristic clinical picture, so its finding is often incidental. Computed tomography is the technique of choice for the diagnosis of this lesion. In the masses greater than 6 centimeters, surgical treatment is indicated, with conventional surgery being a useful route for this(AU)

Outcome and long-term follow-up of adrenal lesions in multiple endocrine neoplasia type 1

ABSTRACT Objective To describe the prevalence, clinical characteristics and outcome of adrenal lesions in long-term follow-up of Multiple endocrine neoplasia type 1 (MEN1) patients. Subjects and methods We retrospectively studied sixteen patients from six families of individuals with MEN1. Adrenal involvement was evaluated using clinical, biochemical and imaging data. Results Adrenal lesions were identified in nine of sixteen (56.3%) patients: seven women and two men (mean age: 52.2 years). Adrenal involvement was detected at MEN1 diagnosis in more than half of the patients. Eighteen adrenal nodules were founded (median of two nodules per patient) with mean adrenal lesion diameter of 17.4 mm. Three patients had unilateral adrenal involvement. Hormonal hypersecretion (autonomous cortisol secretion) was found in two patients. None of the patients was submitted to adrenalectomy, presented an aldosterone-secreting lesion, a pheochromocytoma, an adrenal carcinoma or metastatic disease during the follow-up. A predominance of stable adrenal disease, in terms of size and hormonal secretion, was observed. Adrenal lesions were evenly distributed between the germline mutations. Conclusion Adrenal tumours are a common feature of MEN1 that can affect more than half of the patients. Most of the tumours are bilateral non-functional lesions, but hormonal secretion may occur and should be promptly identified to reduce the morbidity/mortality of the syndrome. Periodic surveillance of these patients should be performed.

Diagnóstico diferencial y cirugía mínimamente invasiva de un tumor suprarrenal de hallazgo antenatal / Differential diagnosis and minimally invasive surgery of an antenatal adrenal mass

Resumen: Introducción: Las masas suprarrenales en recién nacidos son infrecuentes. El diagnóstico diferen cial incluye masas benignas (hemorragia suprarrenal o secuestro pulmonar extralobar) y malignas (neuroblastoma), y pueden ser un hallazgo durante la ecografía obstétrica. El uso de imágenes com plementarias en el periodo postnatal permite una mejor aproximación diagnóstica, con implicancias en el manejo de estos pacientes. Objetivos: comunicar el caso de una recién nacida portadora de una masa suprarrenal, discutir los diagnósticos diferenciales y el manejo de lesiones suprarrenales en recién nacidos. Caso Clínico: Lactante de 2 meses de edad, derivada para estudio de tumor supra rrenal de diagnóstico antenatal a las 22 semanas de edad gestacional. El estudio imagenológico con ecografía postnatal mostró un tumor compatible con neuroblastoma. Paciente asintomática, estudios de laboratorios sin hallazgos relevantes. Se realizó resección laparoscópica de la lesión. El estudio histológico confirmó un secuestro pulmonar. Conclusión: El secuestro pulmonar extralobar debe ser considerado en el diagnóstico diferencial de una masa suprarenal del recién nacido. La cirugía mínimamente invasiva debiera considerarse como el abordaje de elección en casos como este, donde existe factibilidad técnica y beneficios en la recuperación y secuelas cosméticas del paciente.

Abstract: Introduction: Adrenal masses are uncommon in newborns. The differential diagnosis includes be nign masses (adrenal hemorrhage, extralobar pulmonary sequestration) and malignant ones (neuro blastoma) that may be a finding during an obstetric ultrasound. The use of complementary imaging methods allows a better diagnosis approach during the postnatal period, with implications for the management of these patients. Objective: To report the case of a female newborn with diagnosis of an adrenal mass, and to discuss differential diagnoses and management alternatives of adrenal lesions in newborns. Case report: Two-month-old female infant, referred for adrenal tumor study diagnosed at 22 weeks gestational age. Postnatal ultrasound showed a tumor compatible with neuroblastoma. The patient was asymptomatic, and the laboratory studies showed no relevant findings. The lesion was excised by laparoscopy. A histological study confirmed pulmonary sequestration. Conclusions: Extralobar pulmonary sequestration should be considered in the differential diagnosis of an adrenal mass in the newborn. Minimally invasive surgery should be the preferred surgical technique choice in these cases, given the technical feasibility and benefits in the recovery and cosmetic issues of the patient.

Limited significance of repeated long-term radiological and hormonal examination in nonfunctioning adrenal incidentalomas

ABSTRACT Purpose: The purposes of the present study were to evaluate growth rate of nonfunctioning adrenal incidentalomas (AIs) and their development to hormonal hypersecretion on follow-up. Materials and methods: A retrospective study was conducted from the electronic medical records. A total of 314 patients were diagnosed with adrenal tumors between 2000 and 2016. After excluding patients who had overt adrenal endocrine disorders or whose adrenal tumors were clinically diagnosed as metastatic malignancies, we investigated 108 patients with nonfunctioning AIs including characteristics, the treatment, the way of follow-up and pathology. Results: Fifteen patients received immediate adrenalectomy because of the initial tumor size or patient's preference. Pathological examination revealed malignancy in 2 patients. In the remaining 93 patients, radiological examinations were performed periodically. Tumor enlargement of ≥ 1.0cm was observed in 8.6% of the patients who were followed up as nonfunctioning AIs with a median follow-up period of 61.5 months (range: 4-192). Eleven patients underwent adrenalectomy. On the pathological examinations, all of the tumors, which showed a size increase, were diagnosed as benign tumors. Regarding the followed up patients without adrenalectomy, only 2.4% of the patients had tumor enlargement during the prolonged follow-up. Furthermore, none of the patients developed hormonal hypersecretion or clinical signs such as obesity, glucose intolerance or poorly controlled hypertension. Conclusions: Tumor enlargement of AIs did not correlate with malignancy. The value of repeat radiological and hormonal examinations may be limited in the long-term follow-up of patients whose AIs are not enlarged.

Síndrome del dedo azul como manifestación de feocromocitoma / Blue toe syndrome as a clinical finding of pheochromocytoma

Los feocromocitomas son tumores que proceden de las células cromafines del sistema nervioso simpático y actúan sintetizando y liberando catecolaminas. Suelen presentarse entre la cuarta y quinta década de la vida y tienen presentaciones clínicas muy diversas. Ocurren solamente en 0.1-0.2% de la población hipertensa, constituyen una causa tratable y curable de hipertensión arterial, así como de otras manifestaciones derivadas de la liberación incontrolada de catecolaminas. La isquemia arterial periférica secundaria a la liberación masiva de aminas por un feocromocitoma es muy infrecuente. Aquí se presenta un caso clínico de feocromocitoma manifestado como síndrome del dedo azul en un paciente con pulsos distales conservados y el antecedente de mal control tensional a pesar de tratamiento con dos fármacos.

Pheochromocytomas are tumors that arise from chromaffin cells of the sympathetic nervous system and act by synthesizing and releasing catecholamines. They usually occur between the fourth and fifth decade of life and have a very wide clinical presentation. They occur only in 0.1-0.2% of the hypertensive population and represent a treatable and curable cause of arterial hypertension, as well as other symptoms derived from the uncontrolled secretion of catecholamines. Peripheral arterial ischemia secondary to massive amines release by a pheochromocytoma is a very uncommon condition. Here we report a case of pheochromocytoma manifested as blue finger syndrome in a patient with palpable distal pulses and history of poor blood pressure control despite treatment with two drugs.

Ruptured abdominal aortic aneurysm with a suprarenal tumor

Abstract This paper presents a case study of a patient that underwent surgery for a ruptured abdominal aneurysm. The postoperative course was complicated by resistant hypertension and tachycardia. A suprarenal mass was detected in the computed tomography scan with radiological suspicion of pheochromocytoma. Few cases of pheochromocytoma coexisting with aneurysms have been reported. Management of cardiovascular stability is crucial in such cases. Despite the lack of evidence, pheochromocytomas might have a role in the etiology of aortic aneurysms.

What determines mortality in malignant pheochromocytoma? - Report of a case with eighteen-year survival and review of the literature

SUMMARY Pheochromocytoma (PCC) is a tumor derived from adrenomedullary chromaffin cells. Prognosis of malignant PCC is generally poor due to local recurrence or metastasis. We aim to report a case of malignant PCC with 18-year survival and discuss which factors may be related to mortality and long-term survival in malignant pheochromocytoma. The patient, a 45-year-old man, reported sustained arterial hypertension with paroxysmal episodes of tachycardia, associated with head and neck burning sensation, and hand and foot tremors. Diagnosis of PCC was established biochemically and a tumor with infiltration of renal parenchyma was resected. No genetic mutation or copy number variations were identified in SDHB, SDHD, SDHC, MAX and VHL. Over 18 years, tumor progression was managed with 131I-MIBG (iodine-metaiodobenzylguanidine) and 177Lutetium-octreotate therapy. Currently, the patient is asymptomatic and presents sustained stable disease, despite the presence of lung, para-aortic lymph nodes and femoral metastases. Adequate response to treatment with control of tumor progression, absence of significant cardiovascular events and other neoplasms, and lack of mutations in the main predisposing genes reported so far may be factors possibly associated with the prolonged survival in this case. Early diagnosis and life-long follow-up in patients with malignant pheochromocytoma are known to be crucial in improving survival.

Feocromocitoma quístico gigante: reporte de un caso / Pheochromocytoma giant cystic: a case report

El feocromocitoma quístico gigante es tumor adrenal raro en el que predomina el curso asintomático; por lo que muchos de los casos no son diagnosticados hasta el momento de la cirugía. La simple movilización del tumor se asocia con el paso a la sangre de grandes cantidades de catecolaminas y a una elevada morbimortalidad.; por esta razón la cirugía per se y su manejo perioperatorio constituyen un enorme desafío. En este artículo se presenta el caso de un feocromocitoma gigante maligno (35 cm) que ocupaba todo el hemiabdomen derecho. Aun con el diagnóstico preoperatorio de feocromocitoma, el bloqueo farmacológico preoperatorio y las medidas intraoperatorias, el paciente falleció poco antes de que finalizara la cirugía.

The giant cystic pheochromocytoma is a rare adrenal tumor in the predominantly asymptomatic course; so many cases are not diagnosed until the time of surgery. The simple mobilization of the tumor is associated with the passage to the blood of large amounts of catecholamines and high morbidity and mortality. So the surgery itself and perioperative management are a huge challenge. This article describes the case of a malignant giant pheochromocytoma (35 cm) which occupied the entire right abdomen. Even with the preoperative diagnosis of pheochromocytoma, pharmacological blockade preoperative and intraoperative measures, the patient died shortly before the end of surgery.

Incidentalomas endocrinos, más que una imagen / Endocrine incidentalomas, more than an image

Endocrine incidentalomas are nodular lesions located in endocrine glands, diagnosed serendipitously by different image techniques requested for non-endocrine reasons. They can be located in many sites, but this review describes those that compromise pituitary, adrenal and thyroid gland. The main diagnostic challenges of endocrine incidentalomas are discrimination between benign and malignant lesions, and their functional or non-functional endocrine activity. The relevance of adequate image interpretation and associated hormonal study is discussed. (AU)

Mielolipoma adrenal gigante: Adrenalectomía derecha laparoscópica / Giant adrenal myelolipoma. Right laparoscopic adrenalectomy

El mielolipoma es un tumor adrenal poco frecuente. Se trata de un tumor benigno no funcionante compuesto por tejido adiposo y hematopoyético. Presentamos el caso de una paciente de 33 años de edad con diagnóstico de incidentaloma adrenal de 14 cm de diámetro no funcionante. Los estudios imagenológicos presentaban características sugestivas de mielolipoma. Debido a la naturaleza benigna del tumor se decidió el abordaje laparoscópico. La anatomía patológica informó un mielolipoma de 444 gramos. La paciente evolucionó favorablemente en el postoperatorio. El abordaje laparoscópico para la resección del mielolipoma gigante fue factible y exitoso.

Adrenal myelolipoma is a rare, benign, non-functioning tumor. It is composed by fat and hematopoietic tissues. We present the case of a 33-year-old woman with diagnosis of a 14 cm diameter non-functioning right adrenal incidentaloma, with imaging features suggestive of myelolipoma. Based on the benign nature of the tumor, laparoscopic resection was performed. Histopathology showed a myelolipoma, weighting 444 grams. The patient evolved with an uneventful postoperative period. Laparoscopic adrenalectomy for a giant myelolipoma was feasible and successful.

Actualización en el diagnóstico por imágenes de los tumores adrenales / Update on imaging diagnosis of adrenal tumors

Cada vez es más frecuente el diagnóstico por imágenes de los tumores adrenales. La caracterización y diferenciación de los adenomas benignos y las lesiones malignas es muy importante, sobre todo, en el paciente con enfermedad maligna o funcionante. La tomografía axial computarizada, la resonancia magnética nuclear, y la tomografía con emisión de positrones acoplada a tomografía axial computarizada, permiten, con gran precisión, caracterizar y diferenciar, de forma no invasiva, las masas adrenales. En esta revisión se explican los principios fisiológicos en que se basan estas técnicas, sus ventajas y sus limitaciones. Se describen las principales características de imagen de los tumores suprarrenales más frecuentes, y se propone un algoritmo para el uso de estos medios diagnósticos(AU)

Imaging diagnosis of adrenal tumors is increasingly frequent. Characterization and differentiation of benign adenomas and malignant injures is very important, mainly in the patient with malignant or functioning disease. Computed tomography, magnetic resonance imaging and positron emission tomography/computed tomography allowed greater precision in characterizing and differentiating the adrenal masses in a non-invasive way. This review explained the physiological principles supporting these techniques, its advantages and restrictions. The main characteristics of the most frequent adrenal tumor images were described, in addition to submitting an algorithm for the use of these diagnostic means(AU)

Adenoma corticosuprarrenal no funcionante / Non-functional corticosuprarenal adenoma

Alrededor del 50 por ciento de las tumoraciones corticosuprerrenales son benignas y funcionales, muchas son sólidas con signos y síntomas de exceso de glucocorticoides (Cushing) o mineralocorticoides (Conn). El otro 50 por ciento de neoplasias sólidas corresponde a carcinomas adrenocorticales primarios, la mitad funcionales. Dentro de las tumoraciones sólidas benignas la más frecuente es el adenoma. Se presenta un paciente de 36 años de edad, de piel blanca, sexo masculino, con buena salud anterior, que ingresó por astenia desde hace 6 meses y dolor abdominal en el flanco derecho, de ligera intensidad, irradiado a la espalda, además de la pérdida de peso. Al examen físico se constata tumoración en flanco derecho. Se diagnostica tumoración suprarrenal voluminosa por ultrasonografía, tomografía axial computarizada y elevación del cortisol en sangre. Se extirpa el tumor por una incisión combinada anterior y lateral en posición semidecúbito, que brindó un buen campo, y se obtuvieron excelentes resultados. El diagnóstico anatomopatológico fue adenoma corticosuprarrenal, que se analizan y comparan con otros reportes(AU)

About the 50 percent of the cortical-suprarenal tumor are benign and functional, much of them are solid with signs and symptoms of glucocorticoids (Cushing) or mineralocorticoid (Conn). The remainder 50 percent of solid neoplasm corresponds to primary adrenocortical carcinomas whose half is functional. Within the benign solid tumors the more frequent is the adenoma. This is the case of a white male patient aged 36 with a prior good health admitted due to asthenia from 6 months ago and slightly intensive abdominal pain the right flank irradiating to back as well as weight loss. In physical examination it was verified a right flank tumor. A bulky suprarenal tumor was diagnosed by ultrasonography, computerized axial tomography and a rise of blood cortisol. Tumor is removed b y anterior and lateral combined incision in semi-decubitus position allowed a good field with satisfactory results. Anatomical-pathological diagnosis was a corticosuprarenal adenoma which was analyzed and compared with other reports(AU)

Mielolipoma adrenal bilateral ligado a hipotiroidismo primario / Bilateral adrenal myelolipoma linked to primary hypothyroidism

Los mielolipomas adrenales son tumores benignos, no funcionantes e infrecuentes, generalmente de diagnóstico incidental, que eventualmente provocan síntomas locales. Tras una revisión de la literatura previa publicada, se realizó la descripción de un caso clínico de mielolipoma adrenal bilateral, que coexiste con hipotiroidismo primario, relación no reportada hasta el presente. Dichas masas tumorales se diagnosticaron en una mujer de 66 años, aquejada de dolor abdominal recurrente, que además padecía hipotiroidismo e hipercolesterolemia, a la que se le practicó con éxito la exéresis de la lesión de mayor tamaño. Se propuso un tratamiento diagnóstico-terapéutico para este tipo de tumores(AU)

The adrenal myelolipomas are benign tumors, non-functioning and infrequent, generally of incidental diagnosis which by chance provoke local symptoms. After a review of published previous literature it was possible to describe of a clinical case of bilateral adrenal myelolipoma coexisting with a primary hypothyroidism with a relation not reported until now. Such tumoral masses were diagnosed in a woman aged 66 with recurrent abdominal pain and hypothyroidism and hypercholesterolemia who undergoes successfully a exeresis of the bigger lesion. A diagnostic-therapeutic treatment was proposed for this type of tumors(AU)

Mielolipoma adrenal bilateral asociado a disfunción endocrina / Bilateral adrenal myelolipoma associated with an endocrine dysfunction

Se presentó un caso de mielolipoma adrenal bilateral asociado a hiperplasia adrenal congénita por déficit de enzima 21 hidroxilasa en un joven de 27 años de edad, que abandonó tratamiento sustitutivo con acetato de cortisona a los 14 años. Estuvo asintomático hasta su ingreso en el hospital, al cual es remitido por dolor abdominal, vómitos y fiebre, constatándose tumoración abdominal gigante en hemiabdomen izquierdo. Las características clínicas, hormonales y radiológicas halladas son comentadas y correlacionadas con lo registrado en la literatura médica. Hasta donde se revisó, es el primer caso de mielolipoma adrenal bilateral asociado a disfunción endocrina que se publica en Cuba(AU)

Authors present a case of bilateral adrenal myelolipoma associated with a congenital adrenal hyperplasia by deficit of hydroxilase enzyme 21 in a young aged 27 who leaves the substitution treatment with cortisone acetate at 14 years old. He was asymptomatic until its hospital admission due to abdominal pain, vomiting and fever and a high abdominal tumor in left hemi-abdomen. Clinical hormonal and radiological features founded are discussed and correlated with those registered in medical literature. As far as we know, this is the first case of bilateral adrenal myelolipoma associated with an endocrine dysfunction published in Cuba(AU)

Adrenal sarcomatoid carcinoma: A rare case depicted on multi-detector row computed tomography.

Primary adrenal sarcomatoid carcinoma is rare malignant tumor with the characteristics of carcinoma and sarcoma. To date, only one case of primary sarcomatoid carcinoma in the adrenal gland was reported. We present here computed tomography appearance and pathological features of the case with primary adrenal sarcomatoid carcinoma confirmed by pathology. In addition, a brief review of the relevant literature is presented.

Spontaneous Regression of Pulmonary and Adrenal Metastases Following Percutaneous Radiofrequency Ablation of a Recurrent Renal Cell Carcinoma

The spontaneous regression of metastatic lesions from renal cell carcinoma (RCC) is extremely rare, but may be encountered following cytoreductive treatments. We report a case of a recurrent RCC with multiple metastatic lesions which spontaneously regressed after undergoing radiofrequency ablation of the renal tumor.