Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective.

Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with clinical heterogeneity and a high association with hereditary disease, affecting approximately 30 % of the cases. Differences in the presentation and genetic etiologies of PPGLs have been demonstrated between Chinese and European patients. The frequency of germline genetic diagnosis was remarkably higher in Brazilian patients (∼50 %) compared with other cohorts (Chinese 21 %, European 31 %, and The Cancer Genome Atlas Program cohort 27 %). Interestingly, germline SDHB genetic defects were also more prevalent in Brazilian patients (17 %) with PPGLs when compared with other cohorts (3-9 %). The SDHB exon 1 deletion was responsible for approximately 50 % of the SDHB pathogenic/likely pathogenic variants in Brazilian patients with PPGLs due to a founder effect. The germline SDHB exon 1 deletion represents ∼10 % of the germline drivers in Brazilian patients (and possibly in Latin America). Therefore, a single diagnostic PCR for the SDHB exon 1 deletion might be very useful in clinical practice for genetic testing and counseling of patients with PPGLs in Latin America.

Pheochromocytoma/paraganglioma type 5 syndrome as a cause of secondary hypertension in a Colombian patient: case report / Síndrome de feocromocitoma-paraganglioma de tipo 5 como causa de hipertensión arterial en una paciente colombiana: reporte de caso

Pheochromocytoma is a tumor derived from neural crest cells able to produce sympathomimetic substances and, hence, a particular clinical picture. It is responsible for less than 1% of high blood pressure cases, with an estimated incidence between 0.4 and 0.6 cases per 100,000 people each year, and an average survival of seven years. Pheochromocytoma is a solid tumor with a high genetic component, as heritability can reach 40%. Once diagnosed, its treatment and prognosis are partly conditioned by the associated pathogenic variants that can be documented, especially those related to RET, SDHx, VHL, and NF1 genes. We present the case of a young woman with abdominal pain and high blood pressure, who was found to have a pheochromocytoma. Genetic testing detected a rare and recently discovered pathogenic variant: the SDHA:c.1A>C (p.Met1Leu). The patient responded adequately to the surgical treatment and continued the follow-up without documented recurrences. The diagnostic approach for pheochromocytoma patients must start with a clinical suspicion, followed by metabolite measurement in blood and urine, and finally, imaging. Currently, technology development allows precision medicine applicability. In this case of pheochromocytoma, recent developments in precision medicine resulted in the detection of associated genetic components involving the patient and her family. Adequate screening of the index patient is required for documenting pathogenic variants and better characterizing the disease.

El feocromocitoma es un tumor derivado de las células de la cresta neural con la capacidad de producir sustancias simpaticomiméticas y, por ende, un cuadro clínico particular. Causa menos del 1 % de los casos de hipertensión arterial sistémica y su incidencia se estima entre 0,4 y 0,6 casos por 100.000 personas cada año, con una supervivencia media de siete años. De todos los tumores sólidos, el feocromocitoma tiene un mayor componente genético, que puede heredarse hasta en el 40 % de los casos. Una vez diagnosticada la enfermedad, se debe definir el tratamiento y el pronóstico, en parte condicionados por las variantes genéticas asociadas, en especial RET, SDHx, VHL y NF1. Se presenta el caso de una mujer joven con dolor abdominal e hipertensión arterial sistémica, a quien se le diagnosticó feocromocitoma. Al secuenciar el exoma, se identificó una variante patogénica extremadamente rara y de reciente descubrimiento: SDHA: c.1A>C (p.Met1Leu). La paciente respondió adecuadamente al tratamiento quirúrgico y continuó en seguimiento sin recurrencias. El abordaje diagnóstico de los pacientes con feocromocitoma comienza con la sospecha clínica, seguida de la medición de determinados metabolitos en sangre y orina, y, finalmente, los estudios de imagenología. Los desarrollos tecnológicos actuales permiten la aplicación de la medicina de precisión en este campo. En este caso de feocromocitoma, se identificó un componente genético importante que no solo afecta al paciente, sino también, a sus familiares. La tamización adecuada del caso índice permite identificar mutaciones y caracterizar mejor la enfermedad.

Paraganglioma of the Neck: A Rare Case With Spinal Metastasis.

Paragangliomas are rare neuroendocrine tumors that arise from the paraganglia, which are clusters of neuroendocrine cells associated with the autonomic nervous system. These tumors are commonly found in the adrenal medulla but can also occur in other locations outside the adrenal gland. Here, we present a case report of a slow-growing paraganglioma in the left neck with spinal metastasis in a 60-year-old man. This case highlights the importance of considering paraganglion tumors in the differential diagnosis of neck masses and the need for early diagnosis and management to prevent potential complications. Importantly, both the clinical picture and anatomical location of these tumors is important when determining treatment plans.

Síndrome de feocromocitoma-paraganglioma de tipo 5 como causa de hipertensión arterial en una paciente colombiana: reporte de caso / Pheochromocytoma/paraganglioma type 5 syndrome as a cause of secondary hypertension in a Colombian patient: case report

El feocromocitoma es un tumor derivado de las células de la cresta neural con la capacidad de producir sustancias simpaticomiméticas y, por ende, un cuadro clínico particular. Causa menos del 1 % de los casos de hipertensión arterial sistémica y su incidencia se estima entre 0,4 y 0,6 casos por 100.000 personas cada año, con una supervivencia media de siete años. De todos los tumores sólidos, el feocromocitoma tiene un mayor componente genético, que puede heredarse hasta en el 40 % de los casos. Una vez diagnosticada la enfermedad, se debe definir el tratamiento y el pronóstico, en parte condicionados por las variantes genéticas asociadas, en especial RET, SDHx, VHL y NF1.Se presenta el caso de una mujer joven con dolor abdominal e hipertensión arterial sistémica, a quien se le diagnosticó feocromocitoma. Al secuenciar el exoma, se identificó una variante patogénica extremadamente rara y de reciente descubrimiento: SDHA: c.1A>C (p.Met1Leu). La paciente respondió adecuadamente al tratamiento quirúrgico y continuó en seguimiento sin recurrencias.El abordaje diagnóstico de los pacientes con feocromocitoma comienza con la sospecha clínica, seguida de la medición de determinados metabolitos en sangre y orina, y, finalmente, los estudios de imagenología. Los desarrollos tecnológicos actuales permiten la aplicación de la medicina de precisión en este campo. En este caso de feocromocitoma, se identificó un componente genético importante que no solo afecta al paciente, sino también, a sus familiares. La tamización adecuada del caso índice permite identificar mutaciones y caracterizar mejor la enfermedad.

Pheochromocytoma is a tumor derived from neural crest cells able to produce sympathomimetic substances and, hence, a particular clinical picture. It is responsible for less than 1% of high blood pressure cases, with an estimated incidence between 0.4 and 0.6 cases per 100,000 people each year, and an average survival of seven years. Pheochromocytoma is a solid tumor with a high genetic component, as heritability can reach 40%. Once diagnosed, its treatment and prognosis are partly conditioned by the associated pathogenic variants that can be documented, especially those related to RET, SDHx, VHL, and NF1 genes.We present the case of a young woman with abdominal pain and high blood pressure, who was found to have a pheochromocytoma. Genetic testing detected a rare and recently discovered pathogenic variant: the SDHA:c.1A>C (p.Met1Leu). The patient responded adequately to the surgical treatment and continued the follow-up without documented recurrences.The diagnostic approach for pheochromocytoma patients must start with a clinical suspicion, followed by metabolite measurement in blood and urine, and finally, imaging. Currently, technology development allows precision medicine applicability. In this case of pheochromocytoma, recent developments in precision medicine resulted in the detection of associated genetic components involving the patient and her family. Adequate screening of the index patient is required for documenting pathogenic variants and better characterizing the disease.

Jugular Foramen Paragangliomas.

Paragangliomas are the most common tumors at jugular foramen and pose a great surgical challenge. Careful clinical history and physical examination must be performed to adequately evaluate neurological deficits and its chronologic evolution, also to delineate an overview of the patient performance status. Complete imaging evaluation including MRI and CT scans should be performed, and angiography is a must to depict tumor blood supply and sigmoid sinus/internal jugular vein patency. Screening for multifocal paragangliomas is advisable, with a whole-body imaging. Laboratory investigation of endocrine function of the tumor is necessary, and adrenergic tumors may be associated with synchronous lesions. Preoperative prepare with alpha-blockage is advisable in norepinephrine/epinephrine-secreting tumors; however, it is not advisable in exclusively dopamine-secreting neoplasms. Best surgical candidates are young otherwise healthy patients with smaller lesions; however, treatment should be individualized each case. Variations of infratemporal fossa approach are employed depending on extensions of the mass. Regarding facial nerve management, we avoid to expose or reroute it if there is preoperative function preservation and prefer to work around facial canal in way of a fallopian bridge technique. If there is preoperative facial nerve compromise, the mastoid segment of the nerve is exposed, and it may be grafted if invaded or just decompressed. A key point is to preserve the anteromedial wall of internal jugular vein if there is preoperative preservation of lower cranial nerves. Careful multilayer closure is essential to avoid at most cerebrospinal fluid leakage. Residual tumors may be reoperated if growing and presenting mass effect or be candidate for adjuvant stereotactic radiosurgery.

Identification of Predictors of Metastatic Potential in Paragangliomas to Develop a Prognostic Score (PSPGL).

Context: Paragangliomas (PGLs) are rare tumors in adrenal and extra-adrenal locations. Metastasis are found in approximately 5% to 35% of PGLs, and there are no reliable predictors of metastatic disease. Objective: This work aimed to develop a prognostic score of metastatic potential in PGLs. Methods: A retrospective analysis was conducted of clinical data from a cohort with PGLs and tumor histological assessment. Patients were divided into metastatic PGL (presence of metastasis) and nonmetastatic PGL (absence of metastasis ≥96 months of follow-up) groups. Univariate and multivariable analysis were performed to identify predictors of metastatic potential. A prognostic score was developed based on coefficients of multivariable analysis. Kaplan-Meier curves were generated to estimate disease-specific survival (DSS). Results: Out of 263 patients, 35 patients had metastatic PGL and 110 patients had nonmetastatic PGL. In multivariable analysis, 4 features were independently related to metastatic disease and composed the Prognostic Score of Paragangliomas (PSPGL): presence of central or confluent necrosis (33 points), more than 3 mitosis/10 high-power field (HPF) (28 points), extension into adipose tissue (20 points), and extra-adrenal location (19 points). A PSPGL of 24 or greater showed similar sensitivity with higher specificity than the Pheochromocytoma of the Adrenal Gland Scaled Score (PASS) and Grading System for Adrenal Pheochromocytoma and Paraganglioma (GAPP). PSPGL less than or equal to 20 was associated with a risk of metastasis of approximately 10%, whereas a PSPGL of 40 or greater was associated with approximately 80%. The presence of metastasis and Ki-67 of 3% or greater were related to lower DSS. Conclusion: The PSPGL, composed of 4 easy-to-assess parameters, demonstrated good performance in predicting metastatic potential and good ability in estimating metastasis risk.

Seventy years of pheochromocytomas and paragangliomas in Argentina. The FRENAR database.

Pheochromocytomas and paragangliomas (PPGL) are neuroendocrine tumors characterized by the excessive production of catecholamines. This study aims to describe the clinical characteristics of PPGL cases in Argentina over recent decades. A multicenter retrospective cross-sectional analysis was carried out using a database comprising both pediatric and adult patients with confirmed PPGL diagnoses based on pathological reports. A cohort of 486 patients with PPGL was recruited. Women represent 58.4% of the patients, with a mean age of 38.3 years old at the time of diagnosis and 15.2% of the patients were under the age of 18. Hypertension, as well as classic signs and symptoms, were present in 80.9% of the patients. The adrenal incidentaloma, as a mode of presentation, increased in the last two decades rising from 3.9% (1953-2000) to 21.8% (2001-2022), p<0.001. Most tumors were located within the adrenal glands, accounting 83.0% of the cases, with bilateral occurrences noted in 20.0%. The median tumor size was 4.8cm. Local recurrence and metastases were observed in 10.9% and 12.2%. Out of 412 patients, 87.0% exhibited urinary excretion elevation of catecholamines and/or their metabolites. Furthermore, 148 patients, representing 30.4% of the study population, displayed a distinct genetic profile indicative of hereditary syndromes. The distribution of hereditary syndromes revealed that MEN2, VHL, and PGL4 constituted the most prevalent syndromes. This population-based study, spanning seven decades, offers valuable insights into the demographic and clinical characteristics of PPGL patients in Argentina.

Intraoperative radiofrequency ablation for unresectable abdominal paraganglioma: a case report.

For pheochromocytoma and paraganglioma (PPGL), the efficacy of percutaneous ablative therapies in achieving control of metastatic tumors measuring <3 cm had been demonstrated in only few reports, and intraoperative radiofrequency ablation (RFA) of locally invasive primary PPGLs has not been reported. We presented the case of a 31-year-old man who had a 9-cm functioning unresectable PPGL. He was treated with 13 cycles of cytotoxic chemotherapy without objective tumor response, according to the Response Evaluation Criteria in Solid Tumors (RECIST). Subsequently, magnetic resonance imaging revealed a 9.0 × 8.6 × 6.0-cm retroperitoneal mass that extended to the inferior portion of the inferior vena cava, the inferior mesenteric artery, and the infrarenal aorta. Biochemical evaluation demonstrated high level of plasma normetanephrine (20.2 nmol/L, normal range <0.9 nmol/L). Genetic investigation showed the germline pathogenic variant c.1591delC (p. Ser198Alafs*22) in the SDHB gene. I131-metaiodobenzylguanidine scintigraphy was negative and Ga68-dotatate PET-CT scan showed high tumor uptake without distant metastases. On open laparotomy, tumor debulking was not possible. Therefore, intraoperative RFA was performed by a highly experienced team of interventional radiologists. At 12 months after the RFA, the tumor volume decreased from 208 to 45 mL (78%), plasma normetanephrine decreased from 20.2 to 2.6 nmol/L (87%), and the doxazosin dose was reduced from 16 to 8 mg/day. To our best knowledge, this was the first report on intraoperative RFA that markedly reduced the size of a large primary unresectable PPGL, along with clinical and biochemical responses.

Feocromocitoma y paraganglioma en un hospital pediátrico de Argentina. Serie de casos / Pheochromocytoma and paraganglioma at a children's hospital in Argentina. A case series

El feocromocitoma y el paraganglioma son tumores neuroendocrinos secretores de catecolaminas. Los feocromocitomas se originan en la médula suprarrenal, mientras que los paragangliomas son extraadrenales. Se describe una serie de casos de niños con diagnóstico anatomopatológico de feocromocitoma o paraganglioma que consultaron en un hospital pediátrico de alta complejidad de Argentina. Se incluyeron 21 pacientes, 14 varones, con una mediana de edad de 11,4 años; 8 casos con feocromocitoma y 13 casos con paraganglioma. Se presentaron con hipertensión arterial 14/21. La mayoría de los paragangliomas tuvieron localización paraaórtica (9/13). Debido a que representan una causa potencialmente curable de hipertensión arterial, la sospecha clínica es muy importante. El diagnóstico temprano y la instauración de un tratamiento antihipertensivo adecuado, que permita afrontar la cirugía con normotensión arterial, aseguran la curación en la mayoría de los casos si la resección tumoral es completa.

Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those that occur outside the adrenal gland. Here we describe a case series of children with a pathological diagnosis of pheochromocytoma or paraganglioma who consulted at a tertiary care children's hospital in Argentina. A total of 21 patients (14 males) were included; their median age was 11.4 years; 8 children had pheochromocytoma and 13, paraganglioma. Arterial hypertension was observed in 14/21. Most paragangliomas were para-aortic (9/13). Since they are a potentially curable cause of hypertension, clinical suspicion is very important. An early diagnosis and the initiation of an adequate antihypertensive treatment, which allows the patient to undergo surgery with normal blood pressure, ensure a cure in most cases if tumor resection is complete.

Gamma Knife radiosurgery for the management of glomus jugulare tumors: A systematic review and report of the experience of a radioneurosurgery unit in Latin America.

Background: Glomus jugulare tumors (GJTs) are rare and mainly affect women between the 5th and 6th decades of life. Its localization and anatomic relationships make conventional surgical treatment difficult and with a considerable risk of complications. This manuscript aims to describe the results of Gamma Knife radiosurgery (GKR) in patients with GJT treated in a single center in Latin America, as well as to systematically review the literature to determine the clinical and radiological effectiveness of this technique. Methods: A search of information from January 1995 to June 2023 was performed. Twenty-two articles reporting 721 GJT patients treated with GKR were included in the study. Variables such as symptomatic control, control of tumor size, and complications were evaluated. These variables were described using measures of central tendency and proportions. For the institutional experience, 77 patients with GJT tumors were included in the study. Pre-treatment clinical variables and follow-up data were collected from medical charts and phone interviews. The Short Form-36 scale was applied to assess the quality of life. The data were analyzed using the statistical program STATA17.0. Results: A total of 721 patients were considered. The median of patients included in these studies was 18.5. The mean age was 58.4 years. The median of symptom control was 89%, and the median of imaging control was 95.7%. In our institution, 77 patients were included in the study. The mean age was 53.2 years. The median hospital stay was 4.92 hours. For the clinical follow-up, information on 47 patients was obtained. An improvement in pre-treatment symptoms was described in 58%, with general symptomatic control of 97%. The tumor-control rate was 95%, and there were statistically significant differences in six of the nine Short Form-36 scale domains. Conclusion: GKR is an effective, safe, and cost-effective technique that offers a high degree of symptomatic and tumor size control in patients with GJT.

Retrocarotid dissection technique compared to the caudocranial approach for the surgical treatment of carotid body tumors: A 15-year experience.

INTRODUCTION: Carotid body tumors are rare neoplasms with malignant potential. We aim to follow up on our initial experience published in 2015 and compare the occurrence of complications and postoperative outcomes with the use of retrocarotid dissection (RCD) against the standard caudocranial (SCCD) technique. METHODS: This was an observational, case-control study in which we analyzed all of the carotid body tumor resections performed from 1986 to 2022. Parametric and nonparametric tests were used accordingly. Statistical analysis was performed on Stata 17. RESULTS: A total of 181 surgical procedures were included, mean age was 56 years (± 13.63), and 168 (93%) were performed in women. The mean medio-lateral diameter was larger in the RCD group (2.85 ± 1.57 cm vs 1.93 ±1.85 cm; p = 0.002) and presurgical embolization was more frequently performed in the SCCD group (27.5% vs 0.7%; p < 0.001). A total of 40 (22.09%) resections were performed using the SCCD technique. In contrast, in 141 (77.91%) procedures the RCD technique was used. The mean surgical time in the RCD group was lower (197.37 ± 70.56 min vs 232 ± 98.34 min; p = 0.01). No statistically significant difference was found between SCCD and RCD in terms of vascular lesions (n = 20 [11.04%], 15% vs 9%, respectively; p = 0.36), transient or permanent nerve injuries (25% vs 33%, respectively; p = 0.31), or mean intraoperative bleeding (SCCD: 689.95 ± 680.05 mL vs RCD: 619.64 ± 837.94 mL; p > 0.05). CONCLUSIONS: RCD appears to be a safe and equivalent alternative to the standard caudocranial approach in terms of intraoperative bleeding or vascular lesions, with a sustained, significant decrease in surgical time.

Cardiac paraganglioma: implications and impacts of a rare disease-a case report †.

Background: Tumour-producing catecholamines arise in the adrenal medulla (pheochromocytomas), as well as in extra-adrenal chromaffin cells (paragangliomas). The origin can be from any location; however, it is very rare in the heart. Case summary: A 43-year-old woman with a history of arterial hypertension presented with dyspnoea on moderate exertion, New York Class Association (NYHA) functional classes III and IV, and oedema in the lower extremities. Medical and laboratory evaluation revealed an NT-proBNP of 6046 pg/mL, a left ventricular ejection fraction (LVEF) of 15%, longitudinal strain of -7%, and a mass located on the inner surface of the left atrioventricular groove. Surgical intervention was performed, and the tumour was resected. Pathological report showed an extra-adrenal paraganglioma without neoplastic involvement in the margins of the vena cava. After surgery, the patient showed clinical improvement with NYHA functional class I, LVEF of 56%, and longitudinal strain of -20% on transthoracic echocardiography 4 months after treatment. Discussion: Paragangliomas are tumours that are rarely found in the heart, and their diagnosis is difficult. However, early detection and treatment can improve the quality of life of affected patients.

Tumor de cuerpo carotídeo en adolescente. Reporte de un caso / Carotid body tumor in an adolescent. A case report

Introducción. Los paragangliomas del cuerpo carotídeo son neoplasias infrecuentes y representan el 0,6 % de los tumores de cabeza y cuello. La edad de presentación promedio es la quinta década de vida. El objetivo de este artículo fue describir un caso de paraganglioma del cuerpo carotídeo en una adolescente. Caso clínico. Se presenta el caso de una paciente adolescente con paraganglioma de cuerpo carotídeo derecho, de 5x3x3 cm, Shamblin III. Se analizaron la historia clínica, los exámenes diagnósticos, la técnica quirúrgica utilizada y su evolución correspondiente. La información fue obtenida a partir de la ficha clínica, previa autorización por consentimiento de los padres de la paciente. Resultados. Se hizo resección quirúrgica completa y reparo vascular con injerto de vena safena invertida, con evolución favorable y permeabilidad completa del puente vascular, sin secuelas. Conclusión. Este caso podía corresponder a un tumor de etiología familiar, dada su edad temprana de presentación. Se hizo necesario complementar su estudio con imágenes y objetivar el compromiso vascular asociado para la planificación quirúrgica. En estos pacientes, la complejidad de su localización y el compromiso vascular del tumor requiere de un equipo multidisciplinario, con cirujanos de cabeza y cuello y cirujanos vasculares para un resultado exitoso.

Introduction. Carotid body paragangliomas are rare, representing 0.6% of head and neck tumors, with average age of presentation in the fifth decade of life. The objective of this article is to describe a clinical case of carotid body paraganglioma in an adolescent. Clinical case. Review and analysis of the clinical case, reviewing its clinical history, study tests, surgical technique used and its corresponding evolution. Information obtained from the clinical record prior authorization by consent of the patient's parents. Results. Adolescent patient with paraganglioma of the right carotid body, 5x3x3 cm, Shamblin III. With complete surgical resection and inverted saphenous vein graft, favorable evolution, with complete permeability of the vascular bridge, without sequelae. Conclusion. This case could correspond to a tumor of familiar etiology, given its early age of presentation. It is necessary to complement the study with images and to objectively determine the associated vascular involvement for surgical planning. In these patients, the complexity of their location and vascular involvement of the tumor requires a multidisciplinary team with head and neck and vascular surgeons for a successful outcome.

Assessing the safety and efficacy of EVOH Pre-Embolization in head and neck paraganglioma tumors: A comprehensive analysis of current literature.

BACKGROUND: Head and Neck Paragangliomas are characterized by having a rich blood supply. Presurgical embolization with Onyx as a neoadjuvant treatment is not a consensus regarding its efficacy and safety. Our study aimed to answer this matter through a single-arm meta-analysis. METHODS: We systematically reviewed 4 databases. Sixteen studies were described and suitable papers were selected for meta-analysis of estimated intraoperative blood loss (EBL), percentage of tumor devascularization, and complications associated with embolization. RESULTS: The study identified 198 patients with 203 tumors, aged between 8 and 70 years. Commonly reported symptoms included neck mass perception and cranial nerve impairment. Carotid Body Tumors were most prevalent (127, 62.5 %), followed by jugular (48, 23.6 %), or vagal (29, 14.2 %) tumors. Eight studies reported estimated intraoperative blood loss (EBL) averaging 261.89 ml (95 %CI: 128.96 to 394.81 ml). In an analysis of 9 studies, 99 % (95 %CI: 96 to 100 %) achieved 70 % or more devascularization, and 79 % (95 %CI: 58 to 100 %) achieved 90 % or more devascularization. Complications from endovascular procedures were observed in 3 % (95 %CI: 0 to 8 %) of 96 patients across 10 studies, including 4 facial nerve deficits. Eighteen postoperative neurological deficits were reported across 15 articles. CONCLUSION: Despite acknowledged limitations, with refined indications, EVOH, especially Onyx embolization may significantly bolster patient safety, decreasing EBL and easing surgical resection. Further research with larger studies will refine criteria, optimize techniques, and improve patient care and treatment outcomes in the management of head and neck paragangliomas.

Increased anxiety and emotional lability in a patient with SDHB gene mutation paraganglioma: a call to multidisciplinary approach.

Paragangliomas are neuroendocrine tumors that have the potential to secrete catecholamines. They have been linked to genetic mutations in the mitochondrial succinate dehydrogenase (SDH) complex. Patients can experience both physical symptoms and psychiatric symptoms like anxiety, depression, and psychosis. These symptoms can occur as paroxysmal episodes with periods of increased catecholamine secretion. We describe a patient with SDHB gene mutation, who has been diagnosed with a jugular paraganglioma, and was brought to the hospital under Baker Act for threats made online. Since diagnosis this patient has been experiencing both anxiety and post-traumatic stress disorder (PTSD). The patient and a family member report increased emotional lability, and the patient reports multiple daily episodes of anxiousness. This case outlines the connection between paragangliomas and psychiatric symptoms, the impact they can have on patients' daily lives, and the importance of addressing the possibility of these symptoms and establishing a multispecialty healthcare team at the time of diagnosis.

Pheochromocytoma and paraganglioma at a children's hospital in Argentina. A case series. / Feocromocitoma y paraganglioma en un hospital pediátrico de Argentina. Serie de casos.

Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those that occur outside the adrenal gland. Here we describe a case series of children with a pathological diagnosis of pheochromocytoma or paraganglioma who consulted at a tertiary care children's hospital in Argentina. A total of 21 patients (14 males) were included; their median age was 11.4 years; 8 children had pheochromocytoma and 13, paraganglioma. Arterial hypertension was observed in 14/21. Most paragangliomas were para-aortic (9/13). Since they are a potentially curable cause of hypertension, clinical suspicion is very important. An early diagnosis and the initiation of an adequate antihypertensive treatment, which allows the patient to undergo surgery with normal blood pressure, ensure a cure in most cases if tumor resection is complete.

El feocromocitoma y el paraganglioma son tumores neuroendocrinos secretores de catecolaminas. Los feocromocitomas se originan en la médula suprarrenal, mientras que los paragangliomas son extraadrenales. Se describe una serie de casos de niños con diagnóstico anatomopatológico de feocromocitoma o paraganglioma que consultaron en un hospital pediátrico de alta complejidad de Argentina. Se incluyeron 21 pacientes, 14 varones, con una mediana de edad de 11,4 años; 8 casos con feocromocitoma y 13 casos con paraganglioma. Se presentaron con hipertensión arterial 14/21. La mayoría de los paragangliomas tuvieron localización paraaórtica (9/13). Debido a que representan una causa potencialmente curable de hipertensión arterial, la sospecha clínica es muy importante. El diagnóstico temprano y la instauración de un tratamiento antihipertensivo adecuado, que permita afrontar la cirugía con normotensión arterial, aseguran la curación en la mayoría de los casos si la resección tumoral es completa.

Paraganglioma of the Cauda Equina ­ Case Report and Literature Review / Paraganglioma de cauda equina ­ Relato de caso e revisão da Literatura

Paragangliomas of the cauda equina are tumors of rare incidence, with ~ 220 cases described in the world literature. They are benign lesions, grade I by the World Health Organization (WHO), whose definitive diagnosis can only be made by immunohistochemical analysis. Its neuroendocrine nature is evidenced by the presence of chromogranin. The relevance of reporting this case is because paragangliomas of the cauda equina should be included among the differential diagnoses of intradural and extra-medullary tumors, and especially because they can cause perioperative and intraoperative hypertensive crises by adrenergic discharge. The present study presents the case of a 36-year-old male patient diagnosed with a lumbar spine tumor located in the central spinal canal that presented as cauda equina syndrome involving 4 months of bilateral sciatica, paraparesis, urinary and fecal retention. The diagnosis of paraganglioma was confirmed by immunohistochemical positivity for chromogranin after microsurgical resection of the tumor.

Paragangliomas da cauda equina são tumores de incidência rara, com ~ 220 casos descritos na literatura mundial. São lesões benignas, grau 1 pela Organização Mundial da Saúde (OMS), cujo diagnóstico definitivo apenas pode ser feito pela análise imunohistoquímica, onde se evidencia a natureza neuroendócrina dada especialmente pela presença de cromogranina. O presente relato de caso se torna importante porque este deve ser considerado entre os diagnósticos diferenciais de tumores intradurais e extramedulares, e porque há trabalhos na literatura descrevendo crises hipertensivas durante a ressecção da lesão devidas a descarga adrenérgica. O presente estudo apresenta o caso de um paciente masculino de 36 anos diagnosticado com tumor na coluna lombar localizado no canal medular, que cursou com síndrome de cauda equina, com 4 meses de lombociatalgia bilateral, evoluindo à paraparesia, retenção urinária e fecal. Após microcirurgia para ressecção tumoral, o diagnóstico de paraganglioma só foi confirmado através da imunohistoquímica, com positividade para cromogranina.

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.

Three Cases of Carney-Stratakis Syndrome: A Genetically Heterogeneous Disease.

Carney-Stratakis syndrome (CSS) is an autosomal dominant rare syndrome, with incomplete penetrance, characterized by the association of paragangliomas and/or pheochromocytomas and gastrointestinal stromal tumors (GISTs). CSS is caused by germline heterozygous loss-of-function pathogenic variants (PVs) in the succinate dehydrogenase subunit genes (SDHB, SDHC, SDHD), with SDHB and SDHD being the most frequent. To date, only 2 germline SDHC PVs (c.43 C > T; c.405 + 1G > A) have been described in 3 patients with CSS. Three patients with CSS and very distinct clinical presentations are reported here: 1 caused by a germline SDHC large deletion and the others with metastatic GIST and negative genetic investigation for SDHx defects. Two cases (1 and 2) presented with pheochromocytoma (case 1 also with abdominal paraganglioma) and metastatic GIST. Although these 2 cases fulfilled the diagnostic criteria for CSS, the genetic investigation for SDHx PVs by next-generation sequencing and multiplex ligation-dependent probe amplification was negative. Case 3 had a large abdominal paraganglioma and a small low-grade GIST not associated with recurrence or metastasis. This case harbored a germline SDHC exon 3 deletion, not previously reported. In conclusion, CSS is a rare and morbid disease with distinct clinical presentations and genetic heterogeneity, which can contribute to underdiagnosis.

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.