[Carney triad: Report of one case]. / Tríada de Carney. Una rara asociación de tumores infrecuentes: Caso clínico.

Carney described a disorder characterized by the presence of several uncommon tumors which were pulmonary chondromas, gastric sarcomas and extra-adrenal paragangliomas. We report a 14 year-old girl in whom multiple gastric tumors were discovered during a study of an iron deficiency anemia and was subjected to a partial gastrectomy. At 25 years of age, she developed several pulmonary chondromas and at 33 years, a mediastinal tumor with features of an extra-adrenal paraganglioma was found. At 35 years of age, a total gastrectomy was performed to remove a gastrointestinal stromal tumor with excision of peritoneal and lymph node metastasis. One year later, the patient died due to liver failure secondary to liver metastases.

Tríada de Carney. Una rara asociación de tumores infrecuentes: caso clínico / Carney triad: report of one case

Carney described a disorder characterized by the presence of several uncommon tumors which were pulmonary chondromas, gastric sarcomas and extra-adrenal paragangliomas. We report a 14 year-old girl in whom multiple gastric tumors were discovered during a study of an iron deficiency anemia and was subjected to a partial gastrectomy. At 25 years of age, she developed several pulmonary chondromas and at 33 years, a mediastinal tumor with features of an extra-adrenal paraganglioma was found. At 35 years of age, a total gastrectomy was performed to remove a gastrointestinal stromal tumor with excision of peritoneal and lymph node metastasis. One year later, the patient died due to liver failure secondary to liver metastases.

Paraganglioma retroperitoneal no funcional: reporte de un caso en la Fundación Cardioinfantil, Bogotá, Colombia / Retroperitoneal non-functional paraganglioma: report of a case from the Cardioinfantil Foundation, Bogotá, Colombia

Los paragangliomas son tumores derivados de las células cromafines de la cresta neural y por ello tienen la capacidad de secretar catecolaminas, hormonas y péptidos; al ser tumores extraadrenales del sistema nervioso central se los puede encontrar en la base del cráneo, el cuello, el tórax y el abdomen; se clasifican en funcionales y no funcionales. En este artículo se describe un paciente de sexo masculino que cursó inicialmente con dolor inespecífico en el hipocondrio derecho; con base en los estudios imaginológicos iniciales se sospechó la presencia de un neuroblastoma, pero no fue posible diferenciarlo de un paraganglioma, un ganglioneuroblastoma o un neurofibroblastoma. Se lo intervino quirúrgicamente y el estudio patológico del espécimen reveló áreas hemorrágicas extensas, compatibles con un paraganglioma extraadrenal no funcional. Estos tumores son infrecuentes, de localización diversa y de tratamiento quirúrgico difícil.

Paragangliomas are tumors derived from chromaffin cells from the neural crest. They are able to secrete catecholamines, hormones and peptides. They can be found in the skull base, neck, thorax and abdomen, and may be functional or not-functional. We report the case of a male patient with non-specific pain in the right hypochondrium. Based on the initial imaginological studies a neuroblastoma was suspected, but it not possible to differentiate it from a paraganglioma, a ganglioneuroblastoma or a neurofibroblastoma. The pathological study of the surgical specimen revealed extensive hemorrhagic areas, consistent with a non-functional extra-adrenal paraganglioma. This is an infrequent neoplasia with difficult surgical treatment.

A rare case of Cushing syndrome by cyclic ectopic-ACTH.

ACTH-dependent Cushing syndrome (CS) due to ectopic ACTH production is most times difficult to manage. The identification of the source of ACTH may take many years. Surgery or chemotherapy for the primary tumor is not always possible. Control of Cushing symptoms is many times achieved using medication, or bilateral adrenalectomy in refractory cases. This case presents a Brazilian male who showed severe hypertension, mood changes, muscle weakness, darkening of skin, and increased abdominal fat. An investigation for Cushing syndrome was carried out and, after a four-year follow-up, a carotid glomus tumor (chemodectoma) was confirmed, a rare ectopic ACTH-producing tumor. Besides, the patient presented cyclic Cushing syndrome that was exacerbated by diverticulitis episodes. This case presents interesting pitfalls on diagnosis and management of ACTH-dependent CS. This is the only report of a chemodectoma that produced ACTH in the literature.

A rare case of Cushing syndrome by cyclic ectopic-ACTH / Um caso raro de síndrome de Cushing associada a ACTH-ectópico cíclico

ACTH-dependent Cushing syndrome (CS) due to ectopic ACTH production is most times difficult to manage. The identification of the source of ACTH may take many years. Surgery or chemotherapy for the primary tumor is not always possible. Control of Cushing symptoms is many times achieved using medication, or bilateral adrenalectomy in refractory cases. This case presents a Brazilian male who showed severe hypertension, mood changes, muscle weakness, darkening of skin, and increased abdominal fat. An investigation for Cushing syndrome was carried out and, after a four-year follow-up, a carotid glomus tumor (chemodectoma) was confirmed, a rare ectopic ACTH-producing tumor. Besides, the patient presented cyclic Cushing syndrome that was exacerbated by diverticulitis episodes. This case presents interesting pitfalls on diagnosis and management of ACTH-dependent CS. This is the only report of a chemodectoma that produced ACTH in the literature.

A síndrome de Cushing ACTH-dependente causada por produção ectópica de ACTH é, muitas vezes, difícil de diagnosticar e conduzir. A identificação da fonte produtora de ACTH pode demorar muitos anos. A cirurgia ou quimioterapia para o tumor primário nem sempre é possível, sendo o controle do hipercortisolismo alcançado com uso de fármacos ou adrenalectomia bilateral, nos casos refratários. Este caso apresenta um homem com hipertensão grave, mudança de humor, fraqueza proximal, escurecimento da pele e aumento de gordura abdominal. A investigação para síndrome de Cushing foi feita e, após quatro anos de acompanhamento, confirmou-se um tumor de glomus carotídeo (quemodectoma), causa rara de tumor secretor de ACTH. Nesse período, o paciente apresentou síndrome de Cushing cíclica, exacerbada por crises de diverticulite. O caso ilustra pontos importantes no diagnóstico, no acompanhamento e na condução da síndrome de Cushing ACTH-dependente, sendo este o único caso de tumor de glomus de carótida produzindo ACTH descrito na literatura médica.

Fibrilação atrial em cão associada ao quimiodectoma infiltrativo atrial: relato de caso / Atrial fibrillation in dog associated with an infiltrative chemodectoma in the atrial myocardium: a case report

Relata-se o caso de um cão, sem raça definida, levado ao veterinário por apresentar cansaço fácil e episódios de síncope. Foram identificadas fibrilação atrial e extra-sístoles ventriculares isoladas ao exame eletrocardiográfico. O tratamento antiarrítmico não foi eficaz, e o animal morreu devido a um episódio de síncope. À necropsia, observou-se massa em região de base cardíaca, invadindo a luz do átrio esquerdo. Histologicamente, constatou-se a presença de quimiodectoma. A infiltração miocárdica atrial causou lesões nos miócitos, produzindo circuitos reentrantes e/ou focos ectópicos de despolarização atrial.(AU)

This case reports a mongrel dog referred to a veterinarian due to tiredness and syncope episodes. Atrial fibrillation and ventricular premature complex were observed during electrocardiographic exam. The anti-arrhythmic treatment was not effective and the dog died from syncope. At necropsy, a mass invading the internal area of the left atrium was evidenced in the base of the heart. The occurrence of chemodectoma was histologically exhibited. Infiltrations in the atrial myocardium caused alterations in the miocites and produced reentrant circuits and/or atrial depolarization ectopic points.(AU)

[Incomplete Carney's Triad and arterial hypertension in a young woman]. / Triada de Carney incompleta e hipertension arterial en una mujer joven.

The case of young woman with arterial hypertension diagnosed two years before, is here presented; she had a ferropenic anemia caused by digestive loss of blood. Multiple gastric tumors and pararenal non functioning paraganglioma were found. No chondromas were detected. An incomplete Carney's Triad was diagnosed. We remark that multiple gastric tumors in a young adult suggest the possibility of gastrointestinal stromal tumors (GIST) Endoscopic biopsy frequently is not effective because these tumors are deep placed in the muscular gastric layers. The importance of specific techniques for a positive diagnosis are emphasized. Continuous follow up is needed because these tumors have uncertain prognosis. Lung chondromas may appear years later after the GIST was removed and might be confused with GIST metastases.

Triada de carney incompleta e hipertension arterial en una mujer joven / Incomplete Carney’s triad and arterial hypertension in a young woman

Se presenta una el caso de paciente joven, con tríada de Carney incompleta que cursa hipertensión arterial de dos años de evolución y anemia ferropénica grave por pérdida crónica de sangre por tubo digestivo, con tumores gástricos múltiples y paraganglioma pararrenal. No presenta aún desarrollo de condromas pulmonares visibles por tomografía axial computada. En nuestra paciente el paraganglioma no resultó funcionante. Resaltamos que la presencia de tumores gástricos múltiples en un adulto joven debe sugerir la posibilidad de tumores estromales (GIST), cuyo diagnóstico por biopsia endoscópica es difícil debido a su localización profunda, situada en las capas musculares de la pared gástrica. Asimismo queremos remarcar la importancia de las técnicas de marcación descriptas para el diagnóstico preciso. El seguimiento debe ser constante dado el pronóstico incierto de estos tumores. Los condromas pulmonares pueden aparecer años después de la resección del GIST y ser confundidos con metástasis del GIST.

Triada de carney incompleta e hipertension arterial en una mujer joven / Incomplete Carneyãs triad and arterial hypertension in a young woman

Se presenta una el caso de paciente joven, con tríada de Carney incompleta que cursa hipertensión arterial de dos años de evolución y anemia ferropénica grave por pérdida crónica de sangre por tubo digestivo, con tumores gástricos múltiples y paraganglioma pararrenal. No presenta aún desarrollo de condromas pulmonares visibles por tomografía axial computada. En nuestra paciente el paraganglioma no resultó funcionante. Resaltamos que la presencia de tumores gástricos múltiples en un adulto joven debe sugerir la posibilidad de tumores estromales (GIST), cuyo diagnóstico por biopsia endoscópica es difícil debido a su localización profunda, situada en las capas musculares de la pared gástrica. Asimismo queremos remarcar la importancia de las técnicas de marcación descriptas para el diagnóstico preciso. El seguimiento debe ser constante dado el pronóstico incierto de estos tumores. Los condromas pulmonares pueden aparecer años después de la resección del GIST y ser confundidos con metástasis del GIST. (AU)

Triada de carney incompleta e hipertension arterial en una mujer joven / Incomplete Carneyãs triad and arterial hypertension in a young woman

Se presenta una el caso de paciente joven, con tríada de Carney incompleta que cursa hipertensión arterial de dos años de evolución y anemia ferropénica grave por pérdida crónica de sangre por tubo digestivo, con tumores gástricos múltiples y paraganglioma pararrenal. No presenta aún desarrollo de condromas pulmonares visibles por tomografía axial computada. En nuestra paciente el paraganglioma no resultó funcionante. Resaltamos que la presencia de tumores gástricos múltiples en un adulto joven debe sugerir la posibilidad de tumores estromales (GIST), cuyo diagnóstico por biopsia endoscópica es difícil debido a su localización profunda, situada en las capas musculares de la pared gástrica. Asimismo queremos remarcar la importancia de las técnicas de marcación descriptas para el diagnóstico preciso. El seguimiento debe ser constante dado el pronóstico incierto de estos tumores. Los condromas pulmonares pueden aparecer años después de la resección del GIST y ser confundidos con metástasis del GIST. (AU)

Quimiodectoma de corpo carotídeo em cão: relato de caso / Carotid body chemodectoma in dog: case report

Quimiodectomas de corpo carotídeo são tumores raros e de interesse na clínica veterinária, devido ao seu modo de apresentação e desafio em relação a abordagem clínica e cirúrgica. Desenvolvem-se como aumento de volume no pescoço, que normalmente é diagnosticado quando se faz necessária a resseção cirúrgica. Descreve-se o caso de cão da raça Beagle de 10 anos de idade, atendido no Hospital Veterinário Clinivet, na cidade de Curitiba- PR, com aumento de volume em região ventro-lateral direita do pescoço, de forma nodular, medindo em torno de 7 centímetros de diâmetro, de consistência firme e aderido ao tecido muscular. Ao exame clínico e físico não foi notado por à palpação, observou-se um aumento discreto dos linfonodos poplíteos e demais parâmetros sem alteração. Radiografias torácicas e cervicais revelaram desvio lateral da traquéia em região cervical para a esquerda, causado por massa de radiopacidade de tecidos moles. A área pulmonar mostrou-se sem alterações, assim como a silhueta cardíaca. Hemograma demonstrou discreta linfopenia. Foi preconizado a biópsia para a coleta de fragmento e o exame histopatológico concluiu ser quimiodectoma de corpo carotídeo. O paciente foi medicado com doses diárias de prednisona. Este sobreviveu durante dois anos e nove meses sem alterações em relação ao tamanho do tumor. Porém, devido ao avançado da idade, o proprietário optou pela eutanásia. Foi permitida a realização da necropsia e constatou-se redução acentuada da massa neoplásica cervical, que mediu cerca de 2 centímetros de diâmetro, de características calcificadas em seu interior. Nos demais órgãos não se observaram alterações significantes. Embora a resseção cirúrgica do quimiodectoma de corpo carotídeo tenha resultados satisfatórios conforme a literatura, a morbidade ainda é um problema significante e pode debilitar o paciente

Carotid body chemodectoma are rare tumors which have veterinary clinical interest due to their way of presentation and to the challenge they mean in relation to clinical and surgical approach. They develop as an increasing volume on the neck and are usually diagnosed when surgical resection is necessary. A 10-year-old Beagle dog, presented to the Clinivet Veterinary Hospital in Curitiba city, with an increasing volume on the ventro-lateral area of the neck, with nodular form, measuring around 7 centimeters of diameter, firm consistence and adhered to muscular tissue. During the clinical and physical examinations, no pain was noted on palpation. Popliteal lymphonodus was slightly increased and did not present alterations in other parameters. Thoracic and cervical radiographs revealed lateral deviation of the trachea in the cervical area to the left, caused by a radiopaque mass of soft tissue. Pulmonary area did not show alterations, and neither the cardiac silhouette. Hemogram demonstrated lymphopenia. Biopsy to collect a fragment was preconized and the histopathological exam concluded to be a carotid body chemodectoma. Medication with diary doses of prednisone was done. This patient survived during 2 years and 9 months without alterations of the tumor size. However, due to its advanced age, the owner made a choice for the euthanasia. Necropsy was consented and a pronounced reduction of the cervical neoplastic mass was evidenced, which measured about 2 centimeters of diameter, with calcified characteristics inside. In other organs, no significant alterations were observed. Although the surgical resection of the carotid body chemodectoma usually presents satisfactory results in accordance to the literature, morbidity is still a significant problem and can debilitate to the patient

Quimiodectoma de corpo carotídeo em cão: relato de caso / Carotid body chemodectoma in dog: case report

Quimiodectomas de corpo carotídeo são tumores raros e de interesse na clínica veterinária, devido ao seu modo de apresentação e desafio em relação a abordagem clínica e cirúrgica. Desenvolvem-se como aumento de volume no pescoço, que normalmente é diagnosticado quando se faz necessária a resseção cirúrgica. Descreve-se o caso de cão da raça Beagle de 10 anos de idade, atendido no Hospital Veterinário Clinivet, na cidade de Curitiba- PR, com aumento de volume em região ventro-lateral direita do pescoço, de forma nodular, medindo em torno de 7 centímetros de diâmetro, de consistência firme e aderido ao tecido muscular. Ao exame clínico e físico não foi notado por à palpação, observou-se um aumento discreto dos linfonodos poplíteos e demais parâmetros sem alteração. Radiografias torácicas e cervicais revelaram desvio lateral da traquéia em região cervical para a esquerda, causado por massa de radiopacidade de tecidos moles. A área pulmonar mostrou-se sem alterações, assim como a silhueta cardíaca. Hemograma demonstrou discreta linfopenia. Foi preconizado a biópsia para a coleta de fragmento e o exame histopatológico concluiu ser quimiodectoma de corpo carotídeo. O paciente foi medicado com doses diárias de prednisona. Este sobreviveu durante dois anos e nove meses sem alterações em relação ao tamanho do tumor. Porém, devido ao avançado da idade, o proprietário optou pela eutanásia. Foi permitida a realização da necropsia e constatou-se redução acentuada da massa neoplásica cervical, que mediu cerca de 2 centímetros de diâmetro, de características calcificadas em seu interior. Nos demais órgãos não se observaram alterações significantes. Embora a resseção cirúrgica do quimiodectoma de corpo carotídeo tenha resultados satisfatórios conforme a literatura, a morbidade ainda é um problema significante e pode debilitar o paciente(AU)

Carotid body chemodectoma are rare tumors which have veterinary clinical interest due to their way of presentation and to the challenge they mean in relation to clinical and surgical approach. They develop as an increasing volume on the neck and are usually diagnosed when surgical resection is necessary. A 10-year-old Beagle dog, presented to the Clinivet Veterinary Hospital in Curitiba city, with an increasing volume on the ventro-lateral area of the neck, with nodular form, measuring around 7 centimeters of diameter, firm consistence and adhered to muscular tissue. During the clinical and physical examinations, no pain was noted on palpation. Popliteal lymphonodus was slightly increased and did not present alterations in other parameters. Thoracic and cervical radiographs revealed lateral deviation of the trachea in the cervical area to the left, caused by a radiopaque mass of soft tissue. Pulmonary area did not show alterations, and neither the cardiac silhouette. Hemogram demonstrated lymphopenia. Biopsy to collect a fragment was preconized and the histopathological exam concluded to be a carotid body chemodectoma. Medication with diary doses of prednisone was done. This patient survived during 2 years and 9 months without alterations of the tumor size. However, due to its advanced age, the owner made a choice for the euthanasia. Necropsy was consented and a pronounced reduction of the cervical neoplastic mass was evidenced, which measured about 2 centimeters of diameter, with calcified characteristics inside. In other organs, no significant alterations were observed. Although the surgical resection of the carotid body chemodectoma usually presents satisfactory results in accordance to the literature, morbidity is still a significant problem and can debilitate to the patient(AU)

Paraganglioma maligno extrasuprarrenal / Malignant extra-adrenal paraganglioma: case report

Los paragangliomas malignos extrasuprarrenales son neoplasis extremadamente raras (frecuencia diez veces menor que los feocromocitomas), con mayor incidencia entre las tercera y cuarta décadas de la vida, y que a menudo son multiéntricos y malignos. Se presenta un caso de Paraganglioma maligno extrasuprarrenal, destacando los hallazgos clínicos y anatomopatológicos, diagnósticos diferenciales y factores pronósticos (AU)

Malignant carotid body tumors: report of three cases.

The aim of the current report was to describe 3 cases of malignant carotid body tumor (CBT) and to review the literature. My clinical records of 87 CBTs in 81 patients (6 bilateral) were reviewed, 79 of which were operated on. Three malignant cases were found. The first was in a 40-year-old man who presented with pulmonary metastases 6 years after resection of a CBT. He was treated with chemotherapy and interferon, but died with disseminated disease 2 years later. The second case was in a 56-year-old woman who had a 5-cm, fixed, hard mass in the upper aspect of the neck and a paralysis of the left vocal cord. This lesion was completely resected, and a shunt and reconstruction with a saphenous vein graft were performed. Pathology revealed a malignant chemodectoma with invasion to 2 of the 5 lymph nodes removed. Radiotherapy (50 Gy) was given after the operation. She is well and free of disease 68 months after the resection. The third case was in a 61-year-old woman who presented with an 8-cm nontender, hard, immobile mass in the left upper neck that displaced the left wall of the oropharynx toward the midline. A carotid arteriogram showed a CBT. On computed tomography, the tumor extended to the infratemporal fossa with no bone involvement. The lesion was embolized with a 40% reduction in vascularity. At surgical exploration, the tumor involved the sternocleidomastoid muscle and the lymph nodes at levels II and III, and the internal carotid artery could not be dissected free at the skull base, so only a partial resection was performed. This patient was lost to follow-up. These 3 cases are in agreement with the literature. Locoregional control is usually obtained with complete primary tumor resection and lymphadenectomy and eventual radiotherapy. Surgery with radiotherapy seems to be effective for isolated metastases. Current multidisciplinary treatments have been unsuccessful in controlling disseminated disease.

El manejo de los paragangliomas en el Instituto Nacional de Cancerología / Management of the parangangliomas in the Instituto Nacional de Cancerologia

Los paragangliomas son tumores cuyas células se derivan del sistema extraadrenal cromafín. Se le conoce por una variedad de nombres que incluyen glomus, quemodectomas y glomerulocitomas. Ocurren con mayor frecuencia en el cuerpo carotídeo, en la mujer y en personas que viven en ciudades ubicadas en altitud elevada. Se realizó un estudio retrospectivo para evaluar las formas de diagnóstico y manejo de esta tumoración en el Instituto Nacional de Cancerología de la Ciudad de México. Se reportan 31 casos que ocurrieron exclusivamente en mujeres. La localización más frecuente fue en el cuerpo carotídeo (90.3 por ciento). El estudio de imagen más utilizado fue la tomografía computada (61.3 por ciento) seguido de la angiografía (51.6 por ciento). El tratamiento de elección fue la resección quirúrgica (81.8 por ciento), seguido de la radioterapia (6.1 por ciento); cuatro casos rechazaron tratamiento (12.1 por ciento). Con estas modalidades de tratamiento no se registraron defunciones ni secuelas y todos los pacientes se encuentran vivos en la actualidad.

Paraganglioma timpânico / Paraganglioma tympanicum

Os tumores glômicos ou paragangliomas não-cromafins são formados por capilares e pré-capilares interpostos com células epitelóides. Apresentamos, no presente trabalho, 09 (nove) casos de paragangliomas timpânicos atendidos na disciplina de otorrinolaringologia da Unifesp-EPM (de 1988 a 1996). A idade dos pacientes variou entre 35 e 70 anos, com média de 51 anos, com predominância para o sexo feminino. Os sintomas mais comuns foram o zumbido unilateral pulsátil e a perda auditiva homolateral. Ao exame, sempre notou-se a presença de tumor avermelhado retrotimpânico, e a nossa conduta foi cirúrgica em todos os casos, com boa evolução (ausência de recidiva).