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.

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.

Paraganglioma yugular bilateral: reporte de un caso y revisión de la literatura / Bilateral jugular paraganglioma: case report and review of the literature

Resumen El paraganglioma (PG) es una neoplasia infrecuente originada de las células paraganglionares, embriológicamente derivadas de la cresta neural. Se localizan en la cabeza, base de cráneo, cuello, mediastino, abdomen y pelvis. La mayor parte de los PG muestran un curso clínico benigno, sin embargo, algunos casos pueden mostrar un comportamiento biológico agresivo con invasión local y metástasis a distancia. Un avance significativo en patología molecular ha sido el reconocimiento que el 30%-40% de estas neoplasias presentan alteraciones genéticas. Se han descrito más de 45 genes involucrados, incluyendo mutaciones de la línea germinal succinato deshidrogenasa. Actualmente se recomienda hacer test genético a todos los portadores de PG incluyendo los de presentación esporádica. El PG más frecuente se ubica en la glándula suprarrenal llamado feocromocitoma. El diagnóstico definitivo se realiza con histología, sin embargo, el estudio imagenológico puede entregar una aproximación diagnóstica certera. Debido a la aceptación actual que todos los PG tienen potencial metastásico, el concepto de PG benigno y maligno ha cambiado a uno de estimación de riesgo de metástasis, aunque no existe un esquema único aceptado para tal efecto. El tratamiento considera la cirugía, la radioterapia, la observación y terapias combinadas. Dado el lento crecimiento de este tipo de neoplasia y las potenciales complicaciones de la terapia quirúrgica, la observación es una opción especialmente para pacientes añosos dejando las otras opciones para pacientes más jóvenes. En este trabajo se presenta un caso de paraganglioma yugular bilateral gigante tratado con radioterapia de intensidad modulada incluyendo una revisión bibliográfica pertinente.

Abstract Paraganglioma (PG) is a rare neoplasm derived from paraganglionic cells of the neural crest. They are located in the head, skull base, neck, mediastinum, abdomen and pelvis. Most PGs show a benign clinical course, however, some cases may show aggressive biological behavior with local invasion and distant metastasis. A significant advance in molecular pathology has been the recognition that 30%-40% of these neoplasms present genetic alterations; more than 45 genes have been described, including mutations of the germline succinate dehydrogenase. Currently it is recommended to make genetic test to all patients with PG, including sporadic presentation. The most frequent PG is located in the adrenal gland called pheochromocytoma. The definitive diagnosis is made with histology; however, the imaging study can provide an accurate diagnostic approach. It is now accepted that all PG have a metastatic potential, therefore the concept of benign or malignant has been changed to a metastasis risk stratification approach however no single scheme is been widely used. The treatment considers surgery, radiotherapy, observation and combination therapies. Given the slow growth of this type of neoplasia and the potential complications of surgical therapy, observation is an option especially for elderly patients leaving the other options for younger patients. In this work we present a case of giant bilateral jugular paraganglioma treated with intensity modulated radiation therapy, including a pertinent literature review.

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)

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.

A propósito de un caso de paraganglioma / A propos of a case of paraganglioma

Los paragangliomas son tumores neuroendocrinos que surgen de los paraganglios autonómicos extraadrenales, los cuales son pequeños órganos formados por células derivadas de la cresta neural embrionaria con capacidad de secretar catecolaminas. Los paragangliomas están estrechamente relacionados con los feocromocitomas porque son indistinguibles a nivel celular, y a menudo comparten las mismas manifestaciones clínicas, como hipertensión, cefalea episódica, sudoración y taquicardia. El diagnóstico de estos tumores es importante por su riesgo de malignización, por las implicaciones de otras neoplasias asociadas, y para la posibilidad de realizar estudios genéticos para detección de otros casos dentro de una misma familia. El objetivo de este artículo es desarrollar un resumen sobre la epidemiología, manifestaciones clínicas, pruebas diagnósticas y tratamiento de estos tumores. Se presenta el caso de un joven de raza negra diagnosticado de un paraganglioma(AU)

Paragangliomas are neuroendocrine tumors emerging from the extra-adrenal autonomic paraganglia, which are small organs formed by embryonic neural crest-derived cells with catecholamine-secreting capacity. 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. The objective of this article was to make an abstract about epidemiology, clinical manifestations, diagnostic tests and treatment of these tumors. This is the case of a young Black female who was diagnosed with paraganglioma(AU)

Pulmonary Paraganglioma Manifesting as an Endobronchial Mass

Thoracic paragangliomas comprise only 1-2% of all paragangliomas, including the adrenal pheochromocytomas, and these tumors are mostly found in the mediastinal compartments (1). To the best of our knowledge, there is only one case report in the pathology literature of endobronchial involvement by a primary pulmonary paraganglioma (2). We report here on the CT and bronchoscopic findings of a case of pathologically proven endobronchial paraganglioma in a 37-year-old woman. In our case, bronchoscopy and CT demonstrated an endobronchial hypervascular mass, which indicated the presence of carcinoid or hypervascular metastasis based on the known incidence of such tumors.

Paraganglioma de mediastino com metástases pulmonares / Pulmonary metastasis of mediastinal paraganglioma

Descrevemos uma paciente de 27 anos que se apresentou com paraganglioma de mediastino anterior e médio e nódulos pulmonares bilaterais. O tratamento consistiu na ressecção das lesões pulmonares através de toracotomia anterior bilateral transesternal e retirada do paraganglioma com auxílio de circulação extracorpórea. Como tratamento neoadjuvante foram usadas radioterapia e quimioterapia. A evolução pós-operatória foi satisfatória, e catorze meses depois a paciente encontrava-se assintomática.