Glomuvenous malformation: a clinicopathological analysis of 31 cases / 中华病理学杂志

Objective: To investigate the clinicopathological features of glomuvenous malformation (GVM). Methods: Thirty-one cases of GVM diagnosed at the Henan Provincial People's Hospital from January 2011 to December 2021 were collected. Their clinical and pathological features were analyzed. The expression of relevant markers was examined using immunohistochemistry. The patients were also followed up. Results: There were 16 males and 15 females in this study, with an average age of 11 years (range, 1-52 years). The locations of the disease included 13 cases in the limbs (8 cases in the upper limbs, 5 cases in the lower limbs), 9 cases in the trunks, and 9 cases in the foot (toes or subungual area). Twenty-seven of the cases were solitary and 4 were multifocal. The lesions were characterized by blue-purple papules or plaques on the skin surface, which grew slowly. The lumps became larger and appeared to be conspicuous. Microscopically, GVM mainly involved the dermis and subcutaneous tissue, with an overall ill-defined border. There were scattered or clustered irregular dilated vein-like lumens, with thin walls and various sizes. A single or multiple layers of relatively uniform cubic/glomus cells were present at the abnormal wall, with scattered small nests of the glomus cells. The endothelial cells in the wall of abnormal lumen were flat or absent. Immunohistochemistry showed that glomus cells strongly expressed SMA, h-caldesmon, and collagen IV. Malformed vascular endothelial cells expressed CD31, CD34 and ERG. No postoperative recurrence was found in the 12 cases. Conclusions: GVM is an uncommon type of simple venous malformation in the superficial soft tissue and different from the classical glomus tumor. Morphologically, one or more layers of glomus cells grow around the dilated venous malformation-like lumen, which can be combined with common venous malformations.

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.

Extra-adrenal paraganglioma masquerading as severe preeclampsia

Paraganglioma in pregnancy is an extremely rare condition and its diagnosis is often delayed because the clinical symptoms can mimic those of preeclampsia or gestational hypertension. Here, we report the case of a 32-year-old, gravida 2, para 1 woman who presented with severe headache, palpitation, and sweating at 37 weeks' gestation. Although emergent cesarean section was performed on the assumption of severe preeclampsia, blood pressure fluctuated and heart rate remained tachycardiac. We suspected that she might have thromboembolic lesion in the chest or pheochromocytoma. Chest and abdominal computed tomography revealed a 4 cm mass in the left para-aortic space. Serum and urinary catecholamine levels were found to be significantly increased. She underwent laparoscopic mass removal and the pathology confirmed paraganglioma. When typical paroxysmal hypertension is accompanied by headache, palpitation, and sweating during pregnancy, adrenal tumors should be considered.

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.

Hipertensión secundaria a paraganglioma: presentación de un caso y revisión de la literatura / Hipertensão secundária paraganglioma: relato de caso e revisão da literatura / Hypertension secondary to paraganglioma: case report and review of the literature

Se presenta el caso de un hombre de 25 años, con historia de accidente cerebrovascular transitorio durante la adolescencia, e hipertensión arterial no controlada de larga data, que consultó por palpitaciones, diaforesis y cefalea holocraneana. Se le diagnosticó y confirmó por histopatología un paraganglioma paraórtico hipersecretor de catecolaminas. Los síntomas se resolvieron completamente después de la extracción del tumor. El paraganglioma es un tumor extraadrenal infrecuente derivado de las células cromafines; se lo considera como un diagnóstico relevante en la evaluación de la hipertensión arterial secundaria. Se presenta una revisión de la literatura de casos de paragangliomas hipersecretores de catecolaminas cuyo síntoma asociado fue la hipertensión arterial...

We report the case of a 25 year-old man with a history of transient stroke during adolescence, and longstanding uncontrolled hypertension who presented with palpitations, diaphoresis and headache. He was diagnosed with a paraaortic paraganglioma associated with catecholamine hypersecretion, confirmed by histopathology. There was complete resolution of the symptoms after removal of the tumor. Paraganglioma, a rare extra-adrenal tumor, derived from chromaffin cells, should be considered in the diagnosis of secondary hypertension. We performed a literature review of paraganglioma cases with catecholamine hypersecretion, and associated hypertension...

Nós relatamos o caso de um homem de 25 anos com história de acidente vascular cerebral transitória durante a adolescência, e de longa data hipertensão não controlada que se apresentou com palpitações, sudorese e dor de cabeça. Ele foi diagnosticado com um paraganglioma parágrafo aórtica associada a catecolamina hipersecreção, confirmado pelo exame histopatológico. Houve resolução completa dos sintomas, após a remoção do tumor. Paraganglioma, um tumor extra-adrenal rara, derivada a partir de células de cromafina, devem ser considerados no diagnóstico de hipertensão secundária. Foi realizada uma revisão da literatura de casos de paraganglioma com hipersecreção de catecolaminas, e hipertensão associada...

Type 2 segmental glomangioma - Case report

Glomus tumors originate from modified perivascular muscle cells. The most common form is the solitary one. The multiple form may be associated with dominant genetic inheritance. We report a case of a patient with hemangiomatous lesions on the calcaneus and wrist since birth. In 6 years, there was progression of lesions throughout the body. Multiple glomangiomas are asymptomatic and more common in childhood. They can be confused with other vascular malformations. Histopathological diagnosis is essential. The case shows a type 2 segmental manifestation that can be explained by genetic mutation leading to the loss of heterozygosity. As the child grows, the lesions may disseminate due to mutation in distant parts of the skin. Literature shows few reports. The treatment is conservative.

Paraganglioma del cuerpo carotideo: Revisión bibliográfica / Carotid body paraganglioma: Review of the literature

Introducción: Los paragangliomas son tumores neuroectodérmicos que suelen encontrarse adyacentes a estructuras ganglionares autonómicas. El paraganglioma carotídeo es un tumor parasimpático, habitualmente no secretor de hormonas y de bajo potencial maligno. Objetivo: Realizar una revisión de la literatura con conceptos actuales respecto al abordaje clínico y quirúrgico de esta patología. Diseño: Revisión narrativa de la literatura. Materiales y métodos: Se realizó una búsqueda en bases virtuales como Pubmed y Scielo utilizando los términos "paraganglioma" y "tumor del cuerpo carotídeo" con el fin de encontrar documentos actualizados sobre este tema. Resultados: De las fuentes bibliográficas halladas, se depuraron según impacto, población objeto y tiempo de publicación hasta obtener 48 documentos incluyendo artículos de revisión, reportes de caso y libros, de los cuales se sintetizó información sobre el abordaje del paraganglioma del cuerpo carotídeo. Conclusiones: Ante la presencia de una masa cervical lateral debe considerarse la posibilidad de un paraganglioma; la tomografía computada y la resonancia magnética permiten la aproximación diagnóstica y su clasificación inicial, mientras que la angiografía permite el uso de técnicas de embolización selectiva, cuyo uso en estos tumores es controvertido. La cirugía es el único tratamiento curativo y se considera el manejo de elección en la mayoría de los casos, mientras que la radioterapia se indica en aquellos casos de resecciones incompletas o cuando la cirugía está contraindicada.

Introduction: Paragangliomas are neuroectodermal tumors often found adjacent to autonomic ganglion structures. The carotid paraganglioma is a parasympathetic tumor, usually without hormone secretion function and low malignant potential. Objective: To review current concepts regarding the clinical and surgical management of this condition. Design: Narrative review of the literature. Materials and methods: A search was conducted throughout virtual bases such as Pubmed and Scielo using the terms "paraganglioma" and "carotid body tumor" in order to find updated documents on this topic. Results: From the bibliographical sources found, they were depurated by their impact, target population and publication time until 48 papers including review articles, case reports and books; from these literature, information on carotid body paraganglioma was synthesized. Conclusions: In the presence of a lateral neck mass, paraganglioma should be considered; computed tomography and magnetic resonance allows to do a diagnostic approaching and its initial classification, while angiography allows the use of selective embolization techniques, whose use on these tumors is controversial. Surgery is the only curative treatment and is considered the treatment of choice in most cases, while radiation therapy is indicated in cases of incomplete resection or when surgery is contraindicated.

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 New Approach to the Treatment of Metastatic Paraganglioma: Sorafenib / Journal of the Korean Cancer Association, 대한암학회지

Paragangliomas are relatively rare chromaffin cell tumors which may be cured through resection. Patients with paragangliomas may develop metastatic diseases. There is no consensus regarding refractory chemotherapy for treatment of metastatic disease. In this report, we presented a case of a 43-year-old woman who was admitted to the hospital with a history of episodic headaches, diaphoresis, and weakness. Elevated plasma catecholamine levels and a right paraaortic mass were observed on computed tomography. The mass was excised, and a diagnosis of paraganglioma was confirmed. After 20 months of follow-up, local recurrence and metastases were detected in the thorax, abdomen, and skeletal system. Plasma and urinary catecholamine levels were high. Chemotherapy was administered, and no improvement was observed. Therefore, following this palliative conventional chemotherapy, sorafenib was administered for three months, and, finally, positron emission tomography showed that the patient's lesions had completely regressed.

Anesthetic management of a patient with undiagnosed paraganglioma: a case report / 대한마취과학회지

Retroperitoneal paragangliomas are uncommon neuroendocrine tumors which are derived from extra-adrenal paraganglioma with various clinical signs and symptoms. Although most extra-adrenal paragangliomas are histologically benign, some tumors can synthesize and secrete excess catecholamine from the tumor. Excessive production of catecholamine causes numerous cardiovascular manifestations such as severe hypertension, cardiomyopathy, cardiac arrhythmias, and even multiorgan failure. It can lead to high risks of morbidity and mortality, especially in patients who are unrecognized or not adequately prepared. We present a female patient who was preoperatively undiagnosed of secreting retroperitoneal paraganglioma that caused cardiac tachyarrhythmia and severe intraopertive hypertension not controlled by usual antihypertensive agents. A secreting extra-adrenal paraganglioma should be included in differential diagnosis for patient who have incidentaloma and show wide range of hypertension with hemodynamic instability that is not well controlled by common antihypertensive drugs.

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.

Sudden Death from an Non-diagnosed Paraganglioma after Surgery: A Case Report / 대한법의학회지

Extra-adrenal paragangliomas and pheochromocytomas are rare but clinically important tumors, which produce, store, release, and metabolize catecholamines resulting in unexpected life-threatening effects. It is neither easy nor difficult to clinically diagnose these tumors despite the availability modern clinical methods because signs and symptoms such as recurrent episodes of paroxysmal hypertension and headache are nonspecific. Only a few cases of unexpected death in which the deceased had a non-diagnosed paraganglioma or pheochromocytoma have been reported. Death in these cases is usually sudden and occurs during emergency room care or during a major or minor abdominal operation, without prodromal symptoms. Death is considered to occur because of paroxysmal hypertension, cerebrovascular attacks, abrupt hemorrhage into the tumor parenchyma, or acute left ventricular failure. We report the case of a 73-year-old man who died 12 hours after undergoing decompression surgery for spinal stenosis. A medico-legal autopsy revealed that death in this case resulted from an undiagnosed paraganglioma around the abdominal aorta.

Exeresis de paraganglioma retroperitoneal extra-adrenal por videolaparoscopia / Exeresis of extra-adrenal retroperitoneal paraganglioma by videolaparoscopy

Los paragangliomas extraadrenales son tumores neuroendocrinos raros que derivan de las células cromafines con capacidad de secretar cantidades excesivas de catecolaminas. Objetivos. Evaluar el tratamiento de este raro tumor retroperitoneal con una técnica laparoscópica de avanzada, mínimamente invasiva, y sus resultados. Material y métodos. Paciente femenino, 26 años, presenta episodios de HTA frecuentes durante el día, no relacionados a situaciones de estrés. Se estudia con ecografía abdominal, evidenciándose masa infrarenal izquierda. Se completan TAC y RNM, evidenciándose lesión infrarenal izquierda de 40 mm de diámetro lateroaórtica, en íntimo contacto con la misma. PET-TC no evidencia metástasis. Se planifica resolución del caso por vía laparoscópica. Previamente la paciente se trata con Doxazosina. Resultados. Abordaje laparoscópico con 4 trocares. Exéresis en forma completa. Durante la cirugía requiere presencia activa del anestesiólogo por oscilación hemodinámica. El procedimiento no tuvo complicaciones intra ni postoperatorias. La paciente evolucionó favorablemente sin requerimiento de bloqueantes desde extraída la pieza hasta los controles ambulatorios. El resultado de anatomía patológica mostró paraganglioma extraadrenal. Conclusiones. El tratamiento mínimamente invasivo laparoscópico de este tipo de tumores encuentra su fundamento en la selección del caso y el entrenamiento del equipo quirúrgico, así como la necesidad de un centro de alta complejidad con un manejo minucioso del intraoperatorio. La resección es equiparable a la resección a cielo abierto con los beneficios que otorga la mini invasividad.

Extra-adrenal paragangliomas are rare neuroendocrine tumors derived from chromaffin cells capable of secreting excessive amounts of catecholamines. Objective. Evaluate surgical treatment of this rare tumor with a minimally invasive technique as laparoscopy and its results. Methods. Female, 26 Y-O, with frequent and daily arterial hypertension episodes, stress not related. US showed lateroaortic mass, under left kidney. CT and MRI were completed, making evidence of intimal with Aorta. PET-TC revealed no distant metastasis. Laparoscopic approach was performed. Doxazosine treatment previous to surgery was established. 4 trocar laparoscopic approach. Complete tumor removal. Hemodynamic oscillation during surgery required active presence of anesthesiologist. No complications where reported. No further requirement of blocking drugs since surgery. Pathological findings showed extra-adrenal paraganglioma. Conclusion. Minimally invasive laparoscopic technique is feasible for these tumors. Patient selection and advance laparoscopic training is required for management of this pathology. Laparoscopic results are comparable to open surgery, but add the benefits of minimally invasive technique.

Stridor caused by a rare laryngeal tumour

This report describes stridor caused by a rare laryngeal tumour. The patient had presented to ENT with a midline neck-mass and stridor of acute onset and diagnosed radiologically as a mass in the right lobe of thyroid gland in continuity with enhancing polypoidal mass in trachea at the same level. Total thyroidectomy along with the resection of the mass and tracheal ring was performed, trachea being anastomosed primarily. Histopathology reported it as a paraganglioma of the larynx. The patient has been followed-up for 5 years with no clinical or radiological recurrence of the tumour

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.

Five Cases of Glomuvenous Malformations / 대한피부과학회지

Glomuvenous malformation (GVM), an uncommon variant of venous malformation (VM), reveals dilated venous channels lined by variable amounts of glomus cells histopathologically. It appears as compressible blue or blue-purple nodules or plaque(s), sometimes showing a familial tendency. GVM usually involves only the superficial layer of the cutis or subcutaneous tissue, unlike VM, which frequently involves deeper tissue. Although GVM shares features of VM and glomus tumor, their clinicopathological and/or genetic features are sufficiently distinctive to enable a differential diagnosis, which is important for management decisions. Herein, we report five patients who showed a large confluent patch or several scattered patches composed of tender bluish blebs. Two patients among them were siblings. Histopathological and immunohistochemical examinations confirmed GVM.