Tumor glómico de intestino delgado / Glomus tumor of the small bowel

RESUMEN Los tumores glómicos (TG) son neoplasias vasculares benignas de tejidos blandos en zonas acrales periféricas. La mayoría de los TG intraabdominales se producen en el estómago; su presentación intestinal es de muy baja incidencia. Se presenta el caso de una mujer de 26 años, que consultó por dolor abdominal crónico de baja intensidad en región umbilical sin otra signo sintomatología. Se completó su estudio imagenológico y se detectó una lesión abdominopélvica heterogénea con componente sólido vascularizado, y líquido con proyecciones papilares. El informe de la patología de la pieza quirúrgica arrojó el diagnóstico de TG de intestino delgado. Se realizó una consulta que demuestra su baja incidencia: afecta a personas entre 26 y 88 años de ambos sexos en igual proporción, sin una distribución geográfica predominante. Los TG deben considerarse como un raro diagnóstico diferencial ante tumores del intestino delgado (ID).

ABSTRACT Glomus tumors (GTs) are benign vascular neoplasms of soft tissues that occur in peripheral acral areas. Most intra-abdominal GTs develop in the stomach; the incidence of intestinal presentation is very low, We report the case of a 26-year-old female patient with chronic mild pain in the umbilical region with no other symptoms or signs. The imaging tests demonstrated a heterogeneous abdominopelvic mass with a solid vascularized component, and a cystic component with papillary projections. The pathology examination of the surgical specimen reported the diagnosis of GT of the small bowel (SB). We conducted a review of the literature and found their low incidence, affecting both men and women between 26 and 88 years without a predominant geographic distribution. Glomus tumors should be considered as a rare differential diagnosis in the presence of small SB tumors.

Paraganglioma lateroaórtico / Latero-aortic paraganglioma

RESUMEN El feocromocitoma es un tumor productor de catecolaminas que procede de las células cromafines del sistema nervioso simpático. El 80-85% se localiza en la médula suprarrenal y el 15-20% son de localización extra adrenal y se denominan paragangliomas (PG). Alrededor del 97 % son benignos y se curan mediante la extirpación quirúrgica, y el restante 3% son malignos, capaces de producir metástasis a distancia. Se presenta el caso de una mujer de 43 años, que consultó por hipertensión, cefalea y palpitaciones. Presentaba elevación de catecolaminas urinarias, y por resonancia magnética se diagnosticó una masa de 50 por 41 mm latero aórtica. Le fue efectuada su resección por vía laparoscópica, sin complicaciones, con desaparición de los síntomas.

ABSTRACT Pheochromocytomas are catecholamine-producing tumors arising from the chromaffin cells of the sympathetic nervous system. Between 80-85% occur in the adrenal medulla and 15-20% are extraadrenal and are called paragangliomas (PG). About 97% are benign and are solved by surgical resection, while the remaining 3% are malignant and may produce distant metastases. We report the case of 43-year-old female patient who consulted due to hypertension, headache and palpitations. She had elevated urine catecholamines and presented a 50 x 41 mm latero-aortic mass on magnetic resonance imaging. The patient underwent laparoscopic resection of the tumor without complications and experienced relief of symptoms.

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.

El paraganglioma como tumor mesentérico infrecuente / Mesenteric paraganglioma: a rare tumor

RESUMEN Los paragangliomas son tumores originados en las células neuroendocrinas que forman el sistema nervioso autónomo. Se consideran benignos aunque pueden desarrollar malignidad, por lo que su tra tamiento es quirúrgico. La presentación de paraganglioma de ubicación mesentérica es muy inusual.

ABSTRACT Paragangliomas are rare neuroendocrine tumors that arise in the autonomic nervous system. Although these tumors are considered benign, they must be removed by surgery due to their potential malig nant transformation. Mesenteric paragangliomas are extremely rare.

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.

68Ga-DOTATOC PET/CT in the localization of metastatic extra-adrenal paraganglioma and pheochromocytoma compared with 18F-DOPA PET/CT. / Comparación entre la PET/TC con 18F-DOPA y la PET/TC con 68Ga-DOTATOC para la localización del paraganglioma maligno extra-adrenal y el feocromocitoma.

OBJECTIVE: 18F-Fluoro-L-dihydroxyphenylalanine (18F-DOPA) PET offers high sensitivity and specificity in the imaging of non-malignant extra-adrenal paraganglioma (PGL) and pheochromocytoma (PHEO) but lower sensitivity in metastatic disease. These tumours are of neuroendocrine origin and can be detected by 68Ga-DOTA-Tyr3-octreotide (68Ga-DOTA-TOC) PET. Therefore, we compared 68Ga-DOTA-TOC and 18F-DOPA as radiolabels for PET/CT imaging for the diagnosis of metastatic extra-adrenal PGL and PHEO. Combined cross-sectional imaging was the reference standard. METHODS: A total of 6 men and 4 women (age range 22-72 years) with anatomical and/or histologically proven metastatic PGL and PHEO were included in this study. Of these patients, 2 male patients suffered from PHEO, while the remaining 8 patients were diagnosed as metastatic extra-adrenal PGL disease. Comparative evaluation included morphological imaging with CT and functional imaging with 68Ga-DOTA-TOC and 18F-DOPA PET. The imaging results were analyzed on a per-lesion basis. The maximum standardized uptake value (SUVmax) of each functional imaging modality in concordant tumour lesions was measured. RESULTS: Compared with anatomical imaging, the per-lesion detection rate of 68Ga-DOTA-TOC was 100% (McNemar, P<0.01), and that of 18F-DOPA PET was 82.3% (McNemar, P<0.8) in metastatic extra-adrenal PGL and PHEO. Overall, 68Ga-DOTA-TOC PET identified 67 lesions; anatomical imaging identified 62 lesions, and 18F-DOPA PET identified 56 lesions. The SUVmax (mean±SD) of all concordant lesions was 29.3±19.9 for 68Ga-DOTA-TOC PET and 12.3±9.1 for 18F-DOPA PET (Mann-Whitney U test, P<0.0001). CONCLUSION: 68Ga-DOTA-TOC PET offers the highest detection rate in metastatic extra-adrenal PGL and PHEO compared to 18F-DOPA PET and even to diagnostic CT, particularly in bone lesions. Combined functional/anatomical imaging (68Ga-DOTA-TOC PET/CT) enables exact tumour extension to be detected in these rare tumour entities, especially in the case of unclear anatomical correlation.

Malignant Shamblin III Carotid Body Tumors Resected with Use of the Retrocarotid Dissection Technique in 2 Patients.

Carotid body tumors are rare neoplasms with malignant potential in 6% to 12.5% of cases, and surgical resection is the only cure. We present the cases of 2 female patients who had expanding, painless, right-sided neck masses; computed tomographic angiograms revealed Shamblin III tumors at the carotid bifurcation. Each patient underwent tumor resection with use of the retrocarotid dissection technique. The tumor specimens were histologically consistent with malignancy, and free margins were achieved. The patients remained free of symptoms, local recurrence, and metastasis 44 and 19 months after their respective procedures. These are the first malignant Shamblin III carotid body tumors that we have resected by means of retrocarotid dissection. In addition to our patients' cases, we discuss carotid body tumors and compare the retrocarotid and standard caudocranial resection techniques.

Right Thoracoabdominal Approach for Retrocardiac Paraganglioma Resection.

Paragangliomas are rare extra-adrenal tumors of sympathetic or parasympathetic paraganglia origin; of these, mediastinal paragangliomas are 2% of all cases. We present the case of a 21-year-old woman with uncontrolled arterial hypertension who had a functioning 6.5 × 6.2-cm retrocardiac paraganglioma firmly attached to the pericardium. The patient underwent tumor resection via a right thoracoabdominal incision; this surgical approach enabled adequate exposure for complete resection without institution of cardiopulmonary bypass or need for cardiac reconstruction or autotransplantation. Ten months postoperatively, the patient was doing well and was no longer hypertensive.

Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

BACKGROUND: Hereditary head and neck paragangliomas (HNP) are very often associated with pheochromocytoma-paraganglioma syndromes, which are caused by mutations in genes encoding subunits of succinate dehydrogenase (SDHx) complex. The aim of this study was to determine the frequency and location of HNP among SDHx carriers. MATERIAL/METHODS: A total of 72 patients with SDHx mutations underwent computed tomography examinations of the head and neck. HNP were present in 44 (61.1%) out of 72 patients (31 SDHD, 11 SDHB, 2 SDHC); 113 HNP were found; the most common were carotid paragangliomas (59) and vagal paragangliomas (27). RESULTS: The HNP were statistically more frequent in carriers of SDHD mutations compared to carriers of SDHB mutations (72.1% vs. 43.5%, p=0.033). Multiple tumors more often occurred in patients with SDHD mutations 26/31 (83.9%) than in patients with SDHB mutations 6/11 (54.5%) p=0.05. There was a significant difference in the prevalence of carotid paragangliomas between patients with SDHB and SDHD mutations (7/11 [63.6%] vs. 30/31 [96.8%], respectively, p=0.004). Patients with SDHD mutations more often had carotid paragangliomas located on the left side than on the right side, as compared to SDHB mutations 25/31 (80.6%) vs. 4/11 (36.4%), p=0.006. CONCLUSIONS: SDHx mutations predispose to multifocal and bilateral HNP. Carotid and vagal paragangliomas occurred most often. Patients with SDHD mutations are characterized by higher frequency of HNP than patients with SDHB mutations, which is mainly driven by higher frequency of carotid body tumors in patients with SDHD mutations. No difference in the frequency of head and neck paragangliomas in other locations was found.

Mediastinal paraganglioma between the great vessels in an 81-year-old woman.

Nonfunctional paragangliomas are slow-growing, typically benign tumors that arise from the extra-adrenal paraganglion of the autonomic nervous system. They are identified and characterized with the use of computed tomography and other imaging methods; for definitive diagnosis, histopathologic evaluation is crucial. Surgical resection is the treatment of choice, and results of postoperative biochemical testing can reveal recurrence. Because of this lesion's familial association, genetic testing is suggested. We report the case of an 81-year-old woman who presented with neck pain, intermittent palpitations, hypertension, and dyspnea. Contrast-enhanced computed tomography of the chest revealed a multilobular, high-density lesion between the aorta and the pulmonary artery in the superior mediastinum. The patient's 24-hour urinary vanillylmandelic acid levels were not elevated, which suggested a nonfunctional tumor. Mediastinal exploration revealed a large, vascular, irregular, consistently firm mass that adhered to the aortic arch. Upon histopathologic analysis after complete resection, the mass was determined to be a paraganglioma with a low index of mitosis. The patient had postoperative respiratory insufficiency that necessitated tracheostomy, but she recovered well after rehabilitation. In addition to reporting our patient's case, we discuss the nature, diagnosis, and treatment of paragangliomas.

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.