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.

Malignant glomus tumor of the index finger

Glomus tumor (GT) is a benign mesenchymal tumor with an estimated incidence of 1.5 to 2% of soft tissue tumors. The majority of glomus tumors are benign and are mostly seen in the superficial skin & soft tissue of upper and lower distal extremity. The malignant variant of the glomus tumor is scarce. We report a case of a recurrent glomus tumor diagnosed in a 28-year-old male patient, who complained of painful swelling in the proximal phalanx of the right index finger. The magnetic resonance imaging of the hand revealed a well-defined multilobulated soft tissue mass at the palmar aspect of the 2nd digit along the shaft of the proximal phalanx. Histopathology revealed a well-circumscribed tumor arranged in solid sheets, nests and cords interconnect by vessels of varying size. The tumor cells were round to oval, showed moderate nuclear pleomorphism, eosinophilic cytoplasm, atypical mitoses (>5/10HPF), and necrosis. Immunohistochemically tumor cells reveal diffuse and strong cytoplasmic positivity with smooth muscle actin (SMA). Based on histomorphology and immunohistochemistry, a final diagnosis of malignant glomus tumor was made. We report this case due to its rarity, and it to be included among the differential if the lesion is painful and recurrent.

Paraganglioma vulvovaginal primario: Reporte de caso

Paraganglioma is an extra-adrenal neuroendocrine neoplasia derived from neural crest precursors that arise in association with autonomic ganglia. Also called extraadrenal pheochromocytomas, these tumors are defined by their anatomical site and whether they are hormonally functional. Paragangliomas are rare neoplasms of the female genital tract and may be located in the ovaries, uterus or cervix. Those that appear in the vulvovaginal region are extremely rare. Clinical manifestations depend on unregulated catecholamine secretion and location. Diagnosis is based on morphological and immunohistochemical findings. Surgical resection is the primary treatment for this tumor as it does not respond to chemotherapy and radiotherapy. Due to its low frequency and nonspecific symptomatology, diagnosis may be difficult. We present a case of primary vulvovaginal paraganglioma.

El paraganglioma es una neoplasia neuroendocrina extraadrenal derivada de precursores de la cresta neural, que surgen en asociación con los ganglios autónomos y, en ocasiones, también son denominados feocromocitomas extraadrenales. Se definen por su sitio anatómico y si son o no hormonalmente funcionales. Los paragangliomas son neoplasias poco frecuentes del tracto genital femenino y pueden aparecer en ovarios, útero o cuello uterino. Los que aparecen en la región vulvovaginal son extremadamente raros. Las manifestaciones clínicas dependen de la secreción no regulada de catecolaminas y la localización. El diagnóstico se basa en hallazgos morfológicos e inmunohistoquímicos. La resección quirúrgica es un tratamiento primario para este tumor, ya que no responde bien a la quimio-radioterapia. Debido a su baja frecuencia y sintomatología inespecífica, puede mostrar dificultades para realizar el diagnóstico. Se presenta un caso de paraganglioma vulvovaginal primario.

Paraganglioma funcional extraadrenal, una causa infrecuente de eclampsia / Functional extradrenal paraganglioma, an infrequent cause of eclampsia

Los paragangliomas funcionales son tumores raros, originados en el tejido cromafín extraadrenal productor de catecolaminas, y su presentación durante el embarazo es aún más inusual; existen pocos casos de esta condición reportados en la literatura. No obstante, la sospecha de paraganglioma debe ser tenida en cuenta como diagnóstico diferencial en pacientes con hipertensión durante el embarazo; en especial, cuando esta se presenta de manera paroxística antes de la semana 20 de gestación, asociada a fogajes faciales, sin proteinuria ni edemas. La confirmación se realiza mediante pruebas bioquímicas e imagenológicas, y el tratamiento es principalmente quirúrgico; se da especial atención al control pre, trans y postoperatorio de las cifras tensionales y del estado hemodinámico de la paciente, dada la naturaleza del tumor. Este artículo presenta el caso de una mujer adulta con diagnóstico de paraganglioma funcional retroperitoneal, cuya primera manifestación clínica fue eclampsia. Seguidamente se hace una breve revisión de la literatura relacionada.

Functional paragangliomas are rare tumors which originate in the extra-adrenal chromaffin tissue which produces catecolaminas; and, their appearance during pregnancy is even rarer; very few cases have been reported upon in the literature. Nevertheless, the suspicion of paraganglioma should be considered as a differential diagnosis in pregnant patients with hypertension, especially when occuring paroxistically before the 20th month of gestation, and when associated with facial flushing unaccompanied by proteinuria or edemas. Confirmation is made with biochemical or imaging tests, and treatment is primarily surgical. Special attention is paid to patient´s blood pressure stats and hemodynamic state at pre-, trans- and postoperative stages, due to the nature of the tumor. This article presents the case of an adult female diagnosed with functional extradrenal paraganglioma whose first clinical manifestation was eclampsia. A brief review of the related literature is also included.

Jugulotympanic Paraganglioma, Mimicking a Vascular Tumor: A Brief Case Report

Jugulotympanic paragangliomas (JTPs) known as glomus tumors, are neoplasms of variable invasiveness that arise from the paraganglia situated around the jugular bulb or middle ear. We now report a rare case of JTP in an 18-year-old male. Preoperative diagnoses through external auditory canal biopsy and radiologic examination both failed. Even using a frozen section, an informative finding was not obtained because mostly granulation tissue was present along with associated squeezing artifacts. On permanent histologic examination, small cell nests between many ectatic small vessels and fibrotic stroma were seen, and those cells were positive for CD56, synaptophysin and chromogranin. Because JTPs are rare and have rather different histologic findings - higher vascularity, smaller and less uniform tumor cells than other paragangliomas - they are easy to misdiagnose. However, remembering those differences may help the physician avoid missing JTPs.

Jugulotympanic Paraganglioma, Mimicking a Vascular Tumor: A Brief Case Report

Jugulotympanic paragangliomas (JTPs) known as glomus tumors, are neoplasms of variable invasiveness that arise from the paraganglia situated around the jugular bulb or middle ear. We now report a rare case of JTP in an 18-year-old male. Preoperative diagnoses through external auditory canal biopsy and radiologic examination both failed. Even using a frozen section, an informative finding was not obtained because mostly granulation tissue was present along with associated squeezing artifacts. On permanent histologic examination, small cell nests between many ectatic small vessels and fibrotic stroma were seen, and those cells were positive for CD56, synaptophysin and chromogranin. Because JTPs are rare and have rather different histologic findings - higher vascularity, smaller and less uniform tumor cells than other paragangliomas - they are easy to misdiagnose. However, remembering those differences may help the physician avoid missing JTPs.

Functional Paraganglioma of the Pelvic Cavity / 대한비뇨기과학회지

Paraganglioma is one of the pheochromocytomas, and this arises in the extra-adrenal tissue. It is a rare tumor of neural crest origin; it accounts for at least 10% of all the pheochromocytomas. Paragangliomas produce catecholamines and on the basis of this, they are classed as either functional or nonfunctional. We report here on our experience with laparoscopic removal of functional paragangliomas of the pelvic cavity and we include a brief review of literatures.

MR Findings of the Spinal Paraganglioma : Report of Three Cases

Extraadrenal paragangliomas involving the spine is less common and usually takes the form of intradural compression of the cauda equina. The authors report three cases of spinal paragangliomas resulting in extradural spinal cord compression and their MR findings. The MR imaging revealed a well-demarcated extradural mass with low to intermediate signal intensity on T1-weighted images and intermediate to high signal intensity on T2-weighted images compared to paravertebral muscles. After Gd-DTPA administration, heterogeneous and intense enhancement was found. Multiple punctate and serpiginous structures of signal void due to high-velocity flow were noted around and within the tumors on all sequences. In one case, the signal void structures were well corresponded with feeding arteries on angiography. These may be the characteristic findings of the extraadrenal paraganglioma involving the spine.