Condroma pulmonar y paraganglioma carotídeo como manifestaciones de la tríada de Carney: reporte de un caso / Pulmonary chondroma and carotid paraganglioma as expressions of Carney's triad: report of a case

Resumen Objetivos: Presentar caso clínico y revisión de la literatura sobre asociación de tumores poco frecuentes compatibles con diagnóstico de tríada de Carney. Paciente y Métodos: Revisión de ficha clínica de paciente de sexo femenino de 39 años de edad con antecedentes de asma, quien acude a servicio de urgencias por síntomas respiratorios. En estudio con imágenes se evidencia masa pulmonar en lóbulo superior derecho probablemente hamartoma y masa en la bifurcación carotídea izquierda compatible con posible paraganglioma. Se completó el estudio con endoscopia digestiva alta sin evidencia de tumor gástrico y PET-CT (tomografía de emisión de positrones-tomografía computarizada) que descartó otras lesiones. Resultados: La paciente fue sometida a resección quirúrgica de ambos tumores (pulmonar y carotídeo). En estudio histopatológico diferido, se plantean los diagnósticos de paraganglioma carotideo y hamartoma pulmonar, el cual, luego de una segunda revisión histopatológica, es corregido a condroma pulmonar. Discusión: La tríada de Carney se compone por la asociación de al menos 2 de 3 tumores: tumor estromal gastrointestinal (GIST), paraganglioma extra-adrenal y condroma pulmonar. Su expresión es variable, coexistiendo en forma completa en solo el 22% de los casos. Conclusión: Los pacientes con sospecha de tríada de Carney deben recibir evaluación multidisciplinaria, estudio completo en búsqueda de tumores asociados y seguimiento a largo plazo por posibles recurrencias o metástasis.

Objective: To present a clinical case and review of the literature on the infrequent association of pulmonary and extra thoracic tumors compatible with Carney's triad. Patient and Methods: Review of clinical records of a 39 years-old female patient with history of asthma who presented in the emergency department with respiratory symptoms. An imaging study showed a pulmonary mass in the right upper lobe with the aspect of hamartoma and a mass in the left carotid artery bifurcation compatible with a possible paraganglioma. Upper gastrointestinal endoscopy showed no evidence of gastric tumor and a PET-CT (Positron Emission Tomography - Computed Tomography) excluded other lesions. Results: Patient underwent surgical resection of both tumors (pulmonary and carotid). Diagnosis of carotid paraganglioma and pulmonary hamartoma were stated by histopathology. However, lung tumor after a second pathological analysis was confirmed to be a pulmonary chondroma. Discussion: Carney's triad is defined by the association of at least 2 of 3 tumors: Gastrointestinal Stromal Tumor (GIST), extraadrenal paraganglioma and pulmonary chondroma. Its expression is variable, coexisting completely in only 22% of cases. Conclusion: Patients with suspected Carney's triad should receive a multidisciplinary assessment, a complete study searching associated tumors and long-term follow-up for recurrences or metastases.

Cystic paraganglioma of the filum terminale / Paraganglioma quístico del filum terminal

Spinal Paragangliomas are rare tumors, most frequently involving the cauda equina and the filum terminale. We report the case of a 62-year old woman presenting with a one month's lower back pain, left sciatica and leg weakness. Spinal magnetic resonance imaging showed a extramedullary lesion at L3-L4 level, measuring 37 x 52 x 21 mm with contrast enhancement. It presented an unenhancing intradural cystic lesion in the upper pole. The patient underwent lumbar laminectomy, and with neurofisiologic monitorization the tumor was completely resected. Microscopic examination of the tumor revealed a paraganglioma. In a review of the literature, we found only five previous reported cases in which the tumor is accompanied by a cyst.

Los paragangliomas son tumores poco frecuentes que se localizan en la región de la cauda equina y filum terminal. Presentamos el caso de una mujer de 62 años con una historia de 1 mes de evolución de lumbalgia, ciática y debilidad en el miembro inferior izquierdo. Una resonancia magnética lumbar mostró una tumoración extramedular en el nivel L3-L4 que medía 37 x 52 x 21 mm que se realzaba con contraste. Presentaba así mismo una lesión quística en el polo superior del tumor. Se realizó una laminectomía lumbar y bajo control neurofisiológico se realizó una extirpación completa el tumor. El estudio microscópico revelo que se trataba de un paraganglioma. Realizamos una revisión de la literatura encontrando únicamente otros cinco casos de paraganglioma espinal con lesión quística acompañante

Preoperative Endovascular Embolization of Glomus Jugulare Tumors: A Retrospective Case Series of 22 Embolizations in 20 Patients and Literature Review

Objective Glomus jugulare tumors, or tympanojugular paragangliomas, are rare, highly vascularized skull base tumors originated from paraganglion cells of the neural crest. With nonabsorbable embolic agents, embolization combined with surgery has become the norm. The authors assess the profile and outcomes of patients submitted to preoperative embolization in a Brazilian tertiary care hospital. Methods The present study is a single-center, retrospective analysis; between January 2008 and December 2019, 22 embolizations were performed in 20 patients in a preoperative character, and their medical records were analyzed for the present case series. Results Hearing loss was the most common symptom, present in 50% of the patients, while 40% had tinnitus, 30% had dysphagia, 25% had facial paralysis, 20% had hoarseness, and 10% had diplopia. In 7 out of 22 embolization procedures (31%) more than a single embolic agent was used; Gelfoam (Pfizer, New York, NY, USA) was used in 18 procedures (81%), in 12 of which as the single agent, followed by Embosphere (Merit Medical, South Jordan, UT, USA) (31%), Onyx (Medtronic, Minneapolis, MN, USA) (9%), and polyvynil alcohol (PVA) and Bead Block (Boston Scientific, Marlborough, MA, USA) in 4,5% each. The most common vessel involved was the ascending pharyngeal artery, involved in 90% of the patients, followed by the posterior auricular artery in 15%, the internal maxillary artery or the occipital artery in 10% each, and the superficial temporal or the lingual arteries, with 6% each. Only one patient had involvement of the internal carotid artery. No complications from embolization were recorded. Conclusions Preoperative embolization of glomus tumors is safe and reduces surgical time and complications, due to the decrease in size and bleeding.

Endolymphatic Sac Tumour: A Case Report and Review of the Literature

Introduction Endolymphatic sac tumor (ELST) is a slow-growing, low-grade, locallyinfiltrative tumor arising from the endolymphatic sac/duct, which is located in the posterior part of the petrous temporal bone. It may be sporadic in origin, or may be associated with Von-Hippel Lindau (VHL) syndrome. Case description A 40-year-old female patient with an ELST without VHL syndrome who was treated successfully by microsurgical extirpation of the tumor. Discussion We discuss the radiological features and the histopathology of this rare tumor and review the relevant literature. Conclusion The case herein reported adds to the previously-reported cases of this rare tumor.

Gangliocytic Paraganglioma of the Filum Terminale. A Rare Entity

Paragangliomas are rare, benign and slow-growing neuroendocrine tumors that can arise from the adrenal medulla (85­90%) or from the extra-adrenal paraganglia. In the central nervous system (CNS), they can be found at several sites, but more often at the cauda equina and filum terminale region, where they account for between 2.5 and 3.8% of total tumor cases of that region. There are only 8 cases described in the literature that mention the presence of the gangliocytic variant of this entity at the filum terminale. We present the case of a 41-year-old man with chronic lumbar pain refractory to medical treatment, without any associated neurological deficits. Magnetic resonance imaging (MRI) revealed an intradural, extramedullar oval lesion with regular contours and homogeneous caption of contrast at L1 level. He was submitted to surgical treatment, with complete resection of the lesion. The histological analysis revealed a gangliocytic paraganglioma of the filum terminale. At 5 years of follow-up, he remains asymptomatic and without any signs of relapse. These are lesions with an overall good prognosis with gross total resection. Although the recurrence rate is extremely low, prolonged observation is recommended due to the slow-growing nature of the tumor, being estimated that between 1 and 4% can recur even after gross total removal.

Jugular Foramen's Paraganglioma in a Patient with Von Hippel-Lindau Disease: Case Report

Glomus jugular tumors, also known as paragangliomas (PGLs), are rare and related to several clinical syndromes described. These are located in the carotid body, the jugular glomus, the tympanic glomus and the vagal glomus. The symptoms are directly related to the site of involvement and infiltration. These lesions have slow growth, are generally benign and hypervascularized, have a peak incidence between the age of 30 to 50 years old; however, when associated with hereditary syndromes, they tend to occur a decade earlier. Several familial hereditary syndromes are associated with PGLs, including Von Hippel- Lindau disease (VHL) in< 10% of the cases. The diagnosis and staging of PGLs are based on imaging and functional exams (bone window computed tomography [CT] with a "ground moth" pattern and magnetic resonance imaging (MRI) with a "salt and pepper" pattern). The cerebral angiography is a prerequisite in patients with extremely vascularized lesions, whose preoperative embolization is necessary. The histopathological finding of cell clusters called "Zellballen" is a characteristic of PGLs. Regarding the jugular foramen, the combination of two or three surgical approaches may be necessary: (1) lateral group, approaches through themastoid; (2) posterior group, through the retrosigmoid access and its variants; and (3) anterior group, centered on the tympanic and petrous bone. In the present paper, we report a case of PGL of the jugular foramen operated on a young female patientwho underwent a surgery with a diagnosis ofVonHippel-Lindau Disease (VHL) at the Neurosurgery Service of the Hospital Heliópolis, São Paulo, state of São Paulo, Brazil in 2018, by the lateral and posterior combined route.

Paragangliomas cervicais: experiência de 114 casos em 14 anos / Cervical paragangliomas: experience of 114 cases in 14 years

Resumo Introdução e objetivo: Relatar a experiência de um único centro com casos de paraganglioma do corpo carotídeo tratados pelo mesmo cirurgião em uma cidade com alta prevalência de paragangliomas devido à alta altitude. Método: Foram investigados retrospectivamente os dados demográficos, clinico-patológicos e radiológicos de 104 pacientes com diagnóstico de paragangliomas cervicais entre 2003 e 2017. Os pacientes foram classificados de acordo com a classificação de Shamblin. Resultados: Neste estudo, foram incluídos 104 pacientes (33 homens e 71 mulheres, com média de 54,6 ± 13 anos, entre 2003 e 2017) com diagnóstico de paraganglioma cervical na bifurcação carotídea. Entre esses pacientes, 10 tinham tumores bilaterais e, no total, 114 paragangliomas foram tratados nesse período. O diâmetro médio dos tumores foi de 5,12 ± 1,45 cm. Um tumor maligno foi determinado em apenas um (0,9%) paciente. Todos os pacientes foram operados. Em 12 pacientes com diâmetro do tumor maior do que 5 cm, foi possível fazer embolização pré-operatória com molas; em 14 pacientes, foi feita embolização angiográfica e em 4 pacientes foram aplicadas injeções de agentes esclerosantes. Após o tratamento cirúrgico, paralisia facial foi observada em 2 pacientes, disfagia em um, síndrome de Horner em um e rouquidão em 7. Todas essas complicações melhoraram durante o acompanhamento. Não foi relatada mortalidade. Conclusão: A cirurgia é o tratamento definitivo em pacientes com paragangliomas cervicais. Embora possa ser difícil em pacientes com os tipos avançados de Shamblin, em mãos experientes as taxas de complicações são muito baixas.

Strategy of reoperation for pheochromocytoma and paraganglioma / 北京大学学报(医学版)

OBJECTIVE@#To explore the surgical strategy and experience of reoperation for pheochromocytoma and paraganglioma which is very challenging.@*METHODS@#The clinical data of 7 patients with pheochromocytoma and paraganglioma who underwent reoperation in Department of Urology, Peking University Third Hospital from August 2016 to February 2021 were analyzed retrospectively. There were 4 males and 3 females, with an average age of (44.1±11.5) years (28-60 years), 6 cases on the right side and 1 case on the left side. The causes of the operations included: (1) 2 cases of tumor recurrence after resection; (2) The primary operations failed to completely remove the tumors in 3 cases, because the tumors were large and closely related to blood vessels. (3) Pheochromocytoma and paraganglioma wasn't diagnosed before primary operation, therefore, drug preparation wasn't prepared. Two cases were interrupted by severe blood pressure fluctuations during the primary operations. Imaging evaluation, catecholamine biochemical examination and adequate adrenergic α receptor blockers were administrated in all the cases. The surgical approaches included open transperitoneal surgery in 4 cases, robot-assisted laparoscopy in 1 case and retroperitoneal laparoscopy in 2 cases. The innovative techniques included mobilization of the liver, inferior vena cava transection and anastomosis, and transection of left renal vein.@*RESULTS@#The average tumor size was (8.0±3.2) cm (3.6-13.9 cm). The median interval between the reoperation and the primary operation was 9 months (IQR: 6, 19 months). The median operation time was 407 min (IQR: 114, 430 min) and the median blood loss was 1 500 mL (IQR: 20, 3 800 mL). Operations of 5 cases were performed successfully, and 1 case failed only by exploration during the operation. One case died perioperatively. There were 5 cases of intraoperative blood transfusion, the median transfusion volume of red blood cells was 800 mL (IQR: 0, 2 000 mL). One case experienced postoperative lymphorrhagia, and recovered after conservative treatment. The renal function was normal in 2 cases after resection and anastomosis of inferior vena cava or transection of left renal vein. The average postoperative hospital stay was (7.2±3.3) d (4-13 d). The median follow-up time of 6 patients was 33.5 months (IQR: 4.8, 48.0 months). The case who failed in the reoperation still survived with tumor and there was no recurrence in the rest of the patients.@*CONCLUSION@#The reoperation of pheochromocytoma and paraganglioma, which can not be resected in the primary operation or recurred postoperatively, is difficult with high risk of hemorrhage, and there is a risk of failure and perioperative death. Different surgical approaches and strategies need to be adopted based on the different situation.

Paraganglioma Cardíaco: reporte de un caso / Cardiac Paraganglioma: case report

Abstract: A 49-year-old woman presented with dyspnea and palpitations, leading to Functional Class III.An echocardiogram showed a heterogeneous mass adhered to the right heart cavities. This was confirmed by NMR. A large right coronary artery was occluded in relation to the tumor, which was hyper vascularized. Resection of the tumor was performed; the right ventricular wall was sutured, and an atrial defect was closed using pericardial tissue. Post operative course was uneventful and she was asymptomatic 4 years after surgery.

Consideraciones anestésicas en tumores neuroendocrinos: a propósito de un caso de paraganglioma / Anesthetic management of neuroendocrine tumors regarding a case of paraganglioma

Introducción: El paraganglioma es un tumor neuroendocrino poco frecuente que surge de los paraganglios autonómicos extraadrenales en diversos lugares del organismo. También se les conoce como feocromocitomas extraadrenales. Alrededor de 90 por ciento son benignos y se curan mediante la extirpación quirúrgica, el restante 10 por ciento son malignos, y pueden provocar metástasis a distancia. El diagnóstico es importante por su riesgo de malignidad, por las implicaciones de otras neoplasias asociadas y dada la posibilidad de realizar estudios genéticos para la detección de otros casos dentro de una misma familia. Objetivo: Exponer aspectos clínico-epidemiológicos de esta enfermedad y las implicaciones perioperatorias concernientes a la conducta anestésica perioperatoria de estos pacientes. Caso clínico: Paciente femenina, de 56 años de edad con antecedentes de hipertensión arterial de más dos años de evolución y difícil control, diabetes mellitus e historia de cefalea, palpitaciones y sensación de calor. Diagnóstico imagenológico de una masa pararrenal sospechosa de paraganglioma que se confirmó por estudio histopatológico posterior a la exceresis. Conclusiones: La técnica anestésica para la resección de estos tumores es un desafío importante para el anestesiólogo que debe enfrentar dicha intervención quirúrgica, planteándose los riesgos de las etapas pre-, intra- y posoperatoria(AU)

Introduction: Paraganglioma is a rare neuroendocrine tumor that emerging from the extra-adrenal autonomic paraganglia and it may occur in several parts of the body. Paraganglioma is also named extra-adrenals pheochromocytomas. Roughly 90 percent of these tumors are benign and can be excised through surgery whereas 10 percent of them are malignant and cause distant metastasis. Paragangliomas are closely linked to pheochromocytomas because they cannot be differentiated at cell level and often share the same clinical manifestations such as hypertension, episodic headache, sweating and tachycardia. The diagnosis of these tumors is important because of risk of becoming malignant, the implications of other related neoplasias and the possibility of making genetic studies to detect other cases in the same family. Objective: To expose about epidemiology, clinical manifestations, diagnostic tests and perioperative management of these tumors by a presentation of a clinical case. Case Report: Female 56 years old, clinical history of 2 years of uncontrolled hypertension, diabetes mellitus, who presented with headache, palpitations and feeling of warm. She was diagnosed with a pararrenal mass suspected of paraganglioma associated with catecholamine hypersecretion, confirmed by histopathology. Conclusions: The treatment of these tumors requires a more complete surgical resection possible since the prognosis depends. Surgical management of pheochromocytoma needs special perioperative requirements. The anesthesiologist must observe this surgery, establish the risks of the phase pre-intra and postoperative(AU)

Manejo perioperatorio de feocromocitoma y paraganglioma / Perioperative management of paragangliomas and pheochromocytomas

Los feocromocitomas y paragangliomas son tumores neuroendocrinos raros, caracterizados por una alta tasa de morbilidad debida a un exceso de niveles de catecolaminas. Este exceso de catecolaminas es independiente de los estresores fisiológicos. Para el diagnóstico de un feocromocitoma-paraganglioma son fundamentales las pruebas bioquímicas. Las más utilizadas son las metanefrinas fraccionadas urinarias o metanefrinas libres plasmáticas. Seguido del diagnóstico bioquímico, debe realizarse un estudio imagenológico. La evaluación del paciente con diagnóstico de feocromocitoma-paraganglioma debe realizarse teniendo presente sus principales causas de morbimortalidad perioperatoria. Las dos grandes intervenciones que han disminuido la mortalidad perioperatoria son la introducción del α bloqueo y la restauración de la volemia. El otro gran avance ha sido la introducción de la cirugía laparoscópica como el estándar de oro para el abordaje quirúrgico. En relación con el manejo intraoperatorio, no se ha identificado que alguna técnica anestésica sea superior a otra. Sí se ha logrado establecer criterios de inestabilidad hemodinámica que se correlacionan con mayor morbilidad, por lo que los principales objetivos intraoperatorios son mantener estabilidad hemodinámica. El avance en el manejo preoperatorio e intraoperatorio con la consecuente disminución en la mortalidad relacionada a esta patología ha llevado el foco al manejo postoperatorio tanto agudo como a largo plazo. También se debe considerar el riesgo de recurrencia tumoral, por lo que estos pacientes deben tener un control anual de por vida.

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors, characterized by a high morbidity rate due to catecholamine excess. These high levels are independent of physiologic stressors. For the diagnosis, a biochemical workup is paramount. The most widely used are plasma-free metanephrines and urinary fractionated metanephrines. Imaging studies should be initiated once the biochemical diagnosis is established. Evaluation of the patient with pheochromocytomas and paragangliomas must be done taking into account the leading causes of perioperative morbidity and mortality. The two primary interventions that have reduced perioperative mortality are alpha-adrenergic blockade and intravascular volume normalization. Another significant advance has been the establishment of laparoscopic surgery as the gold standard for the surgical approach. No anesthetic technique has been found to be superior to another. Intraoperative hemodynamic instability has been correlated with poorer outcomes; thus one of the main intraoperative goals is maintaining hemodynamic stability. Lower morbidity and almost zero mortality rates due to preoperative and intraoperative management improvements have led to a focus on the immediate and long-term postoperative care. Anual lifelong follow-up is recommended to detect recurrent disease.

Non-functional paraganglioma of urinary bladder managed by transurethral resection

ABSTRACT Purpose As a rare bladder tumor, paraganglioma of the urinary bladder (PUB) is frequently misdiagnosed as bladder cancer, particularly for the non-functional type. To date, transurethral resection remains a controversial treatment for non-functional PUB. This study aimed to identify the clinical features, pathological characteristics, prognosis, and safe/effective treatment of non-functional PUB using transurethral resection of the bladder tumor (TURBT). Materials and Methods The clinical records, radiological data, pathological characteristics and follow-up times were retrospectively reviewed in 10 patients with clinically and pathologically proven non-functional PUB in our hospital from January 2008 to November 2016. All patients underwent TURBT treatment. Results The incidence of non-functional PUB in patients with bladder cancer was 0.17%. The mean age at diagnosis was 44.5 ± 13.6 years (range, 29-70 years), and the patient population had a female: male ratio of 3: 2. No patients had excess catecholamine (CA) whilst four patients had painless hematuria. All neoplasms were completely resected via TURBT. The majority of samples were positive for immunohistochemical markers including chromogranin A (CgA) and Synaptophysin (Syn), but were negative for cytokeratins (CKs). Only a single recurrence was observed from the mean follow-up period of 36.4 ± 24.8 months. Conclusion Complete TURBT is a safe and efficient treatment that serves both diagnostic and therapeutic purposes. Histopathological and immunohistochemistry examinations are mandatory for diagnostic confirmation. Long-term follow-up is recommended for patients with non-functional PUB.

A Retrospective Analysis of Patients Presenting with Head and Neck Paragangliomas at Two Tertiary Referral Centres in Jamaica / Análisis retrospectivo de pacientes que presentan paragangliomas de cabeza y cuello en dos centros de remisión terciarios en Jamaica

ABSTRACT Objective: Paragangliomas are slow-growing tumours that present with varied clinical spectra. Early recognition is paramount in achieving reduced morbidity and mortality. There is a paucity of data regarding head and neck paragangliomas (HNPGs) in the Caribbean literature. This study aimed to reflect the clinical experience in the management of HNPGs at two Jamaican tertiary referral centres: the Kingston Public Hospital (KPH) and the University Hospital of the West Indies (UHWI). Methods: A retrospective analysis was conducted on all patients presenting to the Ear, Nose and Throat (ENT) departments of the UHWI in 2004-14 and of the KPH in 2012-14 with the diagnosis of a HNPG. Results: There were 15 patients, 1 male and 14 females. The average age at presentation was 47.1 years. The HNPGs in this series included eight patients with glomus tympanicum (GT, 53%), four with glomus jugulare (GJ, 27%), two with carotid body tumours (CBTs, 13%) and one with glomus vagale (GV, 7%). Eight patients underwent surgical resection (two CBTs, four GT and two GJ). Treatment outcomes achieved included: complete resection (four patients), stable with residual disease (two patients), and recurrence (two patients). Seven patients were awaiting definitive treatment, one patient with GJ was referred overseas, and one patient with GV defaulted. Conclusion: Glomus tympanicum is the most common HNPG in this series which contrasts with that of most international series. Despite the limitations within this region, such as limited access to angio-embolization and stereotactic modalities, the management outcomes are similar in some respects to the reported international literature.

RESUMEN Objetivo: Los paragangliomas son tumores de crecimiento lento que se presentan con variados espectros clínicos. Su detección precoz es fundamental para lograr una reducción de la morbilidad y la mortalidad. Hay escasez de datos con respecto a los paragangliomas de cabeza y cuello (PgCC) en la literatura del Caribe. Este estudio tuvo como objetivo reflejar la experiencia clínica en el tratamiento de PgCC en dos centros de remisión terciarios de Jamaica: jamaiquinos: el Hospital Público de Kingston (KPH) y el Hospital Universitario de UWI (HUWI). Métodos: Se llevó a cabo un análisis retrospectivo de todos los pacientes diagnosticados con PgCC que acudieron a los Departamentos de Otorrinolaringología de HUWI en 2004-14 y de KPH en 2012-14. Resultados: Hubo 15 pacientes - 1 varón y 14 hembras. La edad promedio al momento de presentarse fue 47.1 años. El PgCC en esta serie incluyó a ocho pacientes con glomus timpánico (GT, 53%), cuatro con glomus yugular (GY, 27%), dos con tumores del cuerpo carotídeo (TCC, 13%), y uno con glomus vagal (GV, 7%). Ocho pacientes fueron sometidos a resección quirúrgica (dos TCC, cuatro GT, y dos GY). Los resultados logrados con el tratamiento incluyeron: resección total (cuatro pacientes), estables con enfermedad residual (dos pacientes), y recurrencia (dos pacientes). Siete pacientes esperaban un tratamiento definitivo, un paciente con GY fue remitido al extranjero, y un paciente con GV no se presentó. Conclusión: El glomus timpánico es el PgCC más común en esta serie que contrasta con el de la mayoría de las series internacionales. A pesar de las limitaciones dentro de esta región, tales como el acceso limitado a la angioembolización y las modalidades estereotácticas, los resultados del manejo de la enfermedad son similares en algunos aspectos a la literatura internacional reportada.

Manejo clínico y quirúrgico de los feocromocitomas y paragangliomas / Clinical and surgical management of pheochromocytomas and paragangliomas

Los feocromocitomas y paragangliomas (Feo/PGL) son tumores neurendocrinos raros con diferentes presentaciones clínicas, asociados a alta morbimortalidad. Reconocer los signos y síntomas es el paso diagnóstico inicial. Las metanefrinas fraccionadas urinarias tienen una excelente sensibilidad y especificidad. La tomografía computarizada (TC) es el método de elección para su localización. La tomografía por emisión de positrones (PET) con F18-fluordeoxiglucosa (F18-FDG) es el método funcional recomendado para detectar metástasis. La resección quirúrgica constituye la única opción curativa en estos pacientes. La adrenalectomía laparoscópica es la vía de abordaje para la mayoría los Feo/PGL. El tratamiento farmacológico, 7 a 14 días previos con alfabloqueantes y betabloqueantes, tiene como objetivo normalizar la presión arterial y prevenir complicaciones cardiovasculares periquirúrgicas. Se conoce que al menos un tercio de los pacientes presentan una mutación genética germinal. El estudio genético debe estar orientado a las características sindrómicas, formas de presentación, localización y fenotipo bioquímico del tumor. Se recomienda el abordaje interdisciplinario en centros especializados con experiencia en esta patología poco frecuente. (AU)

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors with different clinical manifestation associated with high morbidity and mortality. Recognize signs and symptoms is the first step in diagnosis. Urinary fractionated metanephrines have an excellent specificity and sensitivity. Computed Tomography (CT) is the first-choice imaging modality for location. F18-DG positron tomography (PET)/CT scanning is the functional modality of choice for metastatic disease. Surgery is the only curative treatment. Minimally invasive adrenalectomy is the surgical approach for most adrenal pheochromocytomas. Perioperative alpha and beta blockade for 7 to 14 days normalize blood pressure and prevent perioperative cardiovascular complications. Is recognize that at least one-third of the patients have disease-causing germline mutations. Genetic testing must be orientated to syndromic features, presentation, localization and biochemical profile of these tumors. Multidisciplinary teams at centers with appropriate expertise are recommended to ensure a favorable outcome. (AU)

Carotid body tumor: retrospective analysis on 22 patients / Tumor de corpo carotídeo: análise retrospectiva de 22 pacientes

CONTEXT AND OBJECTIVE: Carotid body tumors, or chemodectomas, are the most common head and neck paragangliomas, accounting for 80% of the cases. They may present minor symptoms; however, they deserve special attention in order to achieve accurate diagnosis and adequate treatment. The objectives of this study were to show the approach towards chemodectomas and evaluate the complications of the patients treated surgically without previous embolization. DESIGN AND SETTING: Retrospective study on chemodectomas followed up at the Head and Neck Surgery Service, Department of Surgery, Unicamp. METHODS: Twenty-two patients were evaluated between 1983 and 2009. The diagnosis was based on clinical findings and imaging methods. The epidemiological characteristics, lesion characteristics, diagnostic methods, treatment and complications were analyzed. RESULTS: The paragangliomas were classified as Shamblin I (9%), II (68.1%) and III (22.7%). Angiography, magnetic resonance imaging and computed tomography confirmed the diagnosis in 20 patients (90.9%). Five (22.7%) had significant bleeding during the surgery, while four (18.1%) had minor bleeding. Four patients (18.1%) developed neurological sequelae. Seven (31.8%) needed ligatures of the external carotid artery. Three patients (13.6%) underwent carotid bulb resection. The postoperative follow-up ranged from 3 months to 14 years without recurrences or mortality. CONCLUSIONS: In our experience and in accordance with the literature, significant bleeding and neurological sequelae may occur in chemodectoma cases, particularly in Shamblin III patients. The complications from treatment without previous embolization were similar to data in the literature data, from cases in which this procedure was applied prior to surgery. .

CONTEXTO E OBJETIVO: O tumor de corpo carotídeo, ou quimiodectoma, é o paraganglioma mais comum em cabeça e pescoço, com aproximadamente 80% dos casos. Pode apresentar poucos sintomas; no entanto, necessita atenção especial para o diagnóstico e tratamento adequado. Os objetivos deste estudo são mostrar a abordagem do quimiodectoma e avaliar as complicações nos pacientes tratados cirurgicamente sem embolização prévia. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo de quimiodectomas acompanhados pelo Serviço de Cirurgia de Cabeça e Pescoço, Departamento de Cirurgia, Unicamp. MÉTODOS: Vinte e dois pacientes foram avaliados entre 1983 e 2009. O diagnóstico foi baseado em achados clínicos e métodos de imagens. Foram analisados aspectos epidemiológicos, características das lesões, métodos diagnósticos, tratamento e complicações. RESULTADOS: Os paragangliomas foram classificados em Shamblin I (9%), II (68,1%) e III (22,7%). Angiografia, ressonância nuclear magnética e tomografia computadorizada confirmaram o diagnóstico em 20 pacientes (90,9%). Cinco (22,7%) tiveram sangramento significativo durante a cirurgia, enquanto quatro (18,1%) tiveram sangramento mínimo. Quatro pacientes (18,1%) tiveram sequelas neurológicas. Sete (31,8%) necessitaram de ligadura da artéria carótida externa. Três (13,6%) foram submetidos a ressecção do bulbo carotídeo. O acompanhamento variou de 3 meses a 14 anos, sem recorrências ou óbitos. CONCLUSÕES: Em nossa experiência e de acordo com a literatura, sangramentos significativos e sequelas neurológicas podem ocorrer nos quimiodectomas principalmente em pacientes Shamblin III. As complicações do tratamento sem embolização prévia foram similares aos relatos observados ...

Robot assisted laparoscopic excision of a paraganglioma: new therapeutic approach

The Paraganglioma is the most common extra-adrenal pheochromocytoma arising from neural crest (1) (It will better to write: The paraganglioma is an extra-adrenal pheocromocytoma arising from the neural crest. 10% of pheocromocytomas are extra-adrenal and can arise form chromaffin tissue derived from primitive neuroectoderm). Minimally invasive techniques allow surgeons to perform the procedure without wide exposure and mobilization of intra abdominal organs. To our knowledge we present the third case of robotic excision of a retroperitoneal paraganglioma (2,3).

Head and neck paragangliomas: clinical and molecular genetic classification

Head and neck paragangliomas are tumors arising from specialized neural crest cells. Prominent locations are the carotid body along with the vagal, jugular, and tympanic glomus. Head and neck paragangliomas are slowly growing tumors, with some carotid body tumors being reported to exist for many years as a painless lateral mass on the neck. Symptoms depend on the specific locations. In contrast to paraganglial tumors of the adrenals, abdomen and thorax, head and neck paragangliomas seldom release catecholamines and are hence rarely vasoactive. Petrous bone, jugular, and tympanic head and neck paragangliomas may cause hearing loss. The internationally accepted clinical classifications for carotid body tumors are based on the Shamblin Class I-III stages, which correspond to postoperative permanent side effects. For petrous-bone paragangliomas in the head and neck, the Fisch classification is used. Regarding the molecular genetics, head and neck paragangliomas have been associated with nine susceptibility genes: NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2 (SDH5), and TMEM127. Hereditary HNPs are mostly caused by mutations of the SDHD gene, but SDHB and SDHC mutations are not uncommon in such patients. Head and neck paragangliomas are rarely associated with mutations of VHL, RET, or NF1. The research on SDHA, SDHAF2 and TMEM127 is ongoing. Multiple head and neck paragangliomas are common in patients with SDHD mutations, while malignant head and neck paraganglioma is mostly seen in patients with SDHB mutations. The treatment of choice is surgical resection. Good postoperative results can be expected in carotid body tumors of Shamblin Class I and II, whereas operations on other carotid body tumors and other head and neck paragangliomas frequently result in deficits of the cranial nerves adjacent to the tumors. Slow growth and the tendency of hereditary head and neck paragangliomas to be multifocal may justify less aggressive treatment strategies.

Embolização pré operatória no tratamento de paraganglioma abdominal: relato de caso / Pré-operative embolization of abdominal paraganglioma: case report

Paragangliomas is a pheochromocytoma of extra adrenal localization. The case report is a male, 55 years old who presented symptoms of adrenergic hyperstimulation associated to an abdominal mass diagnosed as paraganglioma by a biopsy. Because of its size, localization and vascularization, an aortography with embolization of the nutrient branches of the tumor was done pre-operatively. Four days later, a surgical ressection was performed, and the tumor was adhered to the duodenum, infra-renal aorta and inferior vena cava. We believe that an angiographic study pre-operatively with embolization makes possible an analysis of the anastomosis and arterial supplement, making the ressecability of the tumor safer, although it seems the surgical intervention should have been done earlier.

decade of clinical experience with extra-adrenal paragangliomas of retroperitoneum: report of 67 cases and a literature review

The purpose was to highlight the diagnosis and treatment of extra-adrenal para-gangliomas, which often causes catecholamine hypersecretion and hypertension. 67 cases of extra-adrenal paraganglioma of retroperitoneum proven pathologically from 1999 to 2009 were reviewed and studied after operation. Endocrine secretion examinations, B-US, CT, MRI, 131-MIBG, octreotide and hands microcirculation inspection were used to diagnose the disease. All patients underwent successful surgical resection of the tumors, which proved to be paragangliomas. They were from 3 cm to 25 cm in size. Almost all of them were diffusely positive for cgA, syn, NSE and s-100 by immunohitochemical staining. There were nine cases assayed malignant paraganglioma by the follow-up. 131-MIBG and octreotide have high sensitivity and accuracy in diagosing extra-adrenal paraganglioma. Surgical treatment should be carried out on the basis of correct drug preparation of a-receptor blocker, such as prazosin and phenoxybenzamine. Complete surgical excision is the treatment of choice for extra-adrenal paragangliomas as well as recurrent or metastatic disease, which could be resected laparoscopically. Intimate lifelong follow-up is necessary and important