Feocromocitoma adrenal gigante derecho. Reporte de un caso / Right giant adrenal pheochromocytoma. A case report

Introducción. El feocromocitoma es una neoplasia endocrina productora de catecolaminas, poco común, que generalmente se origina en la medula suprarrenal, y rara vez en el tejido cromafín extraadrenal, dándosele el nombre de paraganglioma. Existe una gran variedad de signos y síntomas secundarios a la secreción excesiva de catecolaminas por lo que su diagnóstico y tratamiento oportunos son fundamentales para evitar complicaciones potencialmente fatales. Caso clínico. Paciente femenina de 54 años, con dolor abdominal intermitente y con aumento progresivo, localizado en el cuadrante superior derecho. Por estudios imagenológicos se diagnosticó una gran masa suprarrenal derecha, con pruebas de laboratorio que encontraron niveles de metanefrinas y catecolaminas en orina normales. Discusión. Debido al tamaño del tumor y al íntimo contacto con las estructuras adyacentes, se realizó la resección por vía abierta, sin complicaciones y con una buena evolución postoperatoria. El informe anatomopatológico confirmó el diagnóstico de feocromocitoma suprarrenal derecho. Conclusión. Aunque poco frecuente, el feocromocitoma es una patología que se debe sospechar ante la presencia de masas suprarrenales y alteraciones relacionadas con la secreción elevada de catecolaminas. Se debe practicar el tratamiento quirúrgico de forma oportuna.

Introduction. Pheochromocytoma is a rare catecholamine-producing endocrine neoplasm that generally originates in the adrenal medulla, and rarely in extra-adrenal chromaffin tissue, giving it the name of paraganglioma. There is a wide variety of signs and symptoms secondary to excessive secretion of catecholamines, so its timely diagnosis and treatment are essential to avoid potentially fatal complications. Clinical case. A 54-year-old female patient with intermittent abdominal pain and progressive increase, located in the right upper quadrant. By imaging studies, a large right adrenal mass was diagnosed, with laboratory tests that found normal levels of metanephrines and catecholamines in urine. Discussion. Due to the size of the tumor and the intimate contact with the adjacent structures, the resection was performed by open approach, without complications and with a good postoperative evolution. The pathology report confirmed the diagnosis of right adrenal pheochromocytoma. Conclusion. Although rare, pheochromocytoma is a pathology that should be suspected in the presence of adrenal masses and changes related to elevated catecholamine secretion. Surgical treatment should be performed in a timely manner.

Pheochromocytoma: The Great Masquerader

Catecholamine-secreting tumors occur with equal frequency in men and women, primarily in the fourth and fifth decades. The associated hypertension may be sustained or paroxysmal, and patients who are diagnosed in the presymptomatic stage may have normal blood pressure. These tumors can be lethal unless they are diagnosed early and treated appropriately. Numerous disorders can mimic pheochromocytoma, leading to diagnostic dilemma. Described here is a case which was misdiagnosed for 5 years as anxiety, panic attacks, cervical spondylosis, vasomotor symptoms of menopause, arrhythmia and even acute coronary syndrome. Therefore, enhanced adrenal awareness is the need of the hour, to catch this “great masquerade”.

Clinical profile of pheochromocytoma and paraganglioma with normal plasma free metanephrines / 北京大学学报(医学版)

OBJECTIVE@#Plasma free metanephrines (MNs) have been widely used as an initial test for pheochromocytoma and paraganglioma (PPGL). PPGL without MNs elevation has been reported on rare occasions. The objective of this study was to analyze the clinical profile of sporadic PPGL patients with normal MNs.@*METHODS@#In the study, 104 patients with sporadic PPGL diagnosed by histopathology in Peking University First Hospital from March 2015 to January 2020 were enrolled. All the patients had plasma MNs result, of whom, eight (7.69%) were with normal MNs. The reasons for their medical visits, clinical manifestations, the levels of plasma free MNs, 3-methoxytyramine (3-MT), catecholamines and chromogranin A (CgA), and the imaging findings were documented. Their preoperative diagnosis, perioperative medical management, and intraoperative blood pressure were analyzed. All the data mentioned above were compared with the MNs elevated group. The postoperative follow-up for MNs normal patients were applied.@*RESULTS@#For the eight PPGL patients with normal plasma MNs, the most common clinical symptoms were sweating (3/8), abdominal and back pain (3/8), headache (2/8), palpitations (2/8), and fatigue (2/8). There were no significant differences in plasma free 3-MT and catecholamines' diagnostic positive rate between the MNs normal group and MNs elevated group, but the rate for plasma CgA was significantly decreased in the MNs normal group (2/5 vs. 41/43, P=0.005). No significant difference was found for the incidence of typical findings by enhanced CT between the two groups. In these eight MNs normal patients, six were diagnosed with PPGL by the previous history of PPGL, typical symptoms and CT findings, or elevation of 3-MT, CgA levels or positive results of PET-CT; two patients were misdiagnosed as nonfunctioning adenoma or primary aldosteronism. All these MNs normal patients underwent preoperative management with alpha adrenergic receptor blockers, of whom, one had an average intraoperative arterial pressure < 60 mmHg during surgery. The median follow-up time for the eight patients was 1.5 (0.5－4.5) years. No evidence of new tumors was found on the enhanced CT scans. Two MNs normal patients' plasma 3-MT and (or) CgA decreased to normal.@*CONCLUSION@#For patients with adrenal or retroperitoneal tumors, typical symptoms or a previous history of PPGL, normal plasma MNs is not a sufficient exclusion for PPGL. Plasma 3-MT, catecholamine, CgA results and the imaging findings are helpful for the diagnosis of PPGL. We recommend patients with suspected MNs normal PPGL take alpha adrenergic receptor blockers as preoperative blockade, but should avoid overdose. Postoperative follow-up for patients with normal MNs should focus on the positive biochemical markers before surgery.

Screening for phaeochromocytoma in patients with acute cerebrovascular disease: Is it necessary?

@#Introduction: Phaeochromocytoma may present with uncontrolled hypertension leading to haemorrhagic stroke (HS), ischaemic stroke (IS) and transient ischaemic attack (TIA). False elevation in the levels of CATS/ METS has been reported in acute cerebrovascular disease. Our aim was to analyse the frequency and pattern of elevations of CATS/METS in patients with acute cerebrovascular disease and to determine associated factors. Materials and Methods: This is a retrospective study of 112 samples of CATS/ METS received by the laboratory over a two-year period, from patients with acute cerebrovascular disease. CATS/METS were measured using LC/MS/MS method. Clinical details and CATS/METS level were obtained from the database. Mann-Whitney U test and Kruskal Wallis test were used for statistical analysis. These statistical analyses were performed using SPSS v.20.0 (IBM Corp., Armonk, NY, USA). Results: Of the 112 patients, 39% had HS, 54% had IS and 7% had TIA. A total of 29% of patients had elevated CATS/ METS. Elevated levels of CATS/METS were noted in 41% and 25% of HS and IS patients, respectively (p=0.53). Median norepinephrine, epinephrine and metanephrine levels in HS were significantly higher than IS (p< 0.05). Systolic blood pressure was higher in those who had elevated CATS/ METS (p=0.04). Only for two patients with elevated CATS/METS repeat testing was performed. Age, diastolic blood pressure and the time of sample collection in relation to the presentation, for CATS/METS were not significantly different between groups that had elevated levels of CATS/ METS versus those who did not. Conclusion: We noted that CATS/METS were elevated in one-third of patients, especially in patients with high systolic blood pressure. Increase in CATS/METS should be appropriately followed up with repeat testing. Since false elevation in CATS/METS has been reported in cerebrovascular disease, screening for phaeochromocytoma is best deferred for a month.

Analysis of the clinical characteristics of pheochromocytoma crisis / 中华内分泌外科杂志

Objective@#To analyze the clinical characteristics of pheochromocytoma crisis (PCC) .@*Methods@#Data of 123 cases of pheochromocytoma and paraganglioma (PPGL) admitted from Apr. 2011 to Feb. 2017 were retrospectively analyzed and they were divided into crisis group and noncrisis group according to the patients with or without haemodynamic instability and end-organ damage. The differences of demographics characteristics, presentations, laboratory tests, imaging findings, perioperative clinical conditions and pathological features were compared between the two groups.@*Results@#①16 cases were enrolled into crisis group, among whom 5 were misdiagnosed, while 107 cases were enrolled into noncrisis group. ②Compared with noncrisis group, the incidence of headache, palpitation, sweating, the classic triad, other presentations of PPGL, severe hypertension and hypotension were higher, and more patients had paroxysmal hypertension and admitted to our hospital for paroxysmal presentations in crisis group (P<0.05) . ③Leukocyte, fasting blood glucose, liver transaminases, troponin and D-dimmer were higher, while estimated glomerular filtration rate (eGFR) was lower, more tumors located in the left of adrenal in crisis group (P<0.05) . ④ Patients in crisis group had higher plasma free metanephrines (MNs) , larger maximal tumor diameter, higher enhanced CT value in each period, more benign tumors and hemorrhage or necrosis in the tumors, but all the differences were not significant when compared with the noncrisis group. ⑤Patients in crisis group were more likely to undergo elective surgery. However, there was no difference in the preoperative time of α-blockade, type of surgery, intraoperative and postoperative complications, mortality among the two groups.@*Conclusions@#PCC is a rare endocrinological emergency with a highly variable manifestations, which commonly presents with typical triad, with higher incidence of hemodynamic instability and end-organ damage. Although biochemical and imaging examinations are relatively effective in the diagnosis of PCC, the misdiagnosis remains inappropriate high. Once the diagnosis is established, clinicians should timely start drug preparation while surgical resection is the key to the treatment of PCC.

Elevated Metanephrines in a Normotensive Filipino woman with a lateral neck mass / Journal of the ASEAN Federation of Endocrine Societies

Introduction@#Schwannomas are benign biochemically non-secretory neoplasms that originate from the myelin sheaths of nerves. Functioning schwannomas, especially that of the head and neck, are exceedingly rare with only a few published in the literature. This case aims to report the uncommon presentation of a patient with a neck schwannoma in an adult female with elevated urine metanephrines@*Case@#A 33-year-old Filipino female, non-hypertensive, was admitted for a two-year history of progressively enlarging non-tender pulsatile right lateral neck mass, without any symptoms. The patient underwent aspiration biopsy revealing no malignant cells. Contrast-enhanced CT Scan demonstrated well-defined heterogeneously enhancing soft tissue mass in the right paracervical area, with an initial impression of paraganglioma or nerve sheath tumor. To discriminate further, urine metanephrine was ordered and demonstrated high results (3.997 mg, 5.018 mg; Reference: 0-1.00 mg/24hr) on two occasions. Gadolinium-enhanced MRI showed the 6.3x3.9x4 cm mass as isointense on T1WI and hyperintense on T2WI. Despite normotension, terazosin was administered for pre-operative alpha blockade. She underwent excision of the tumor without post-operative complications. On follow-up, the histopathology and immunohistomorphologic features confirmed the mass as a Schwannoma. Four weeks later, the patient remained normotensive and repeat urine metanephrines yielded normal results (0.670 mg, 0.192 mg)@*Conclusion@#Surgery, which remains to be the cornerstone of treatment, heralded the biochemical remission of the urine metanephrines in the patient. Although there were no identified neuroendocrine elements in the histopathology, the decrease in urine metanephrines after tumor removal likely points to a secretory schwannoma

Analysis of the clinical characteristics of pheochromocytoma crisis / 中华内分泌外科杂志

Objective To analyze the clinical characteristics of pheochromocytoma crisis (PCC). Meth-ods Data of 123 cases of pheochromocytoma and paraganglioma (PPGL) admitted from Apr. 2011 to Feb. 2017 were retrospectively analyzed and they were divided into crisis group and noncrisis group according to the pa-tients with or without haemodynamic instability and end-organ damage. The differences of demographics charac-teristics, presentations, laboratory tests, imaging findings, perioperative clinical conditions and pathological fea-tures were compared between the two groups. Results ①16 cases were enrolled into crisis group, among whom 5 were misdiagnosed, while 107 cases were enrolled into noncrisis group. ②Compared with noncrisis group, the incidence of headache, palpitation, sweating, the classic triad, other presentations of PPGL, severe hypertension and hypotension were higher, and more patients had paroxysmal hypertension and admitted to our hospital for paroxysmal presentations in crisis group (P<0.05). ③Leukocyte, fasting blood glucose, liver transaminases, tro-ponin and D-dimmer were higher, while estimated glomerular filtration rate(eGFR) was lower, more tumors locat-ed in the left of adrenal in crisis group(P<0.05). ④ Patients in crisis group had higher plasma free metanephrines (MNs), larger maximal tumor diameter, higher enhanced CT value in each period, more benign tumors and hem-orrhage or necrosis in the tumors, but all the differences were not significant when compared with the noncrisis group. ⑤Patients in crisis group were more likely to undergo elective surgery. However, there was no difference in the preoperative time of α-blockade, type of surgery, intraoperative and postoperative complications, mortality a-mong the two groups. Conclusions PCC is a rare endocrinological emergency with a highly variable manifesta-tions, which commonly presents with typical triad, with higher incidence of hemodynamic instability and end-organ damage. Although biochemical and imaging examinations are relatively effective in the diagnosis of PCC, the mis-diagnosis remains inappropriate high. Once the diagnosis is established, clinicians should timely start drug prepa-ration while surgical resection is the key to the treatment of PCC.

Catecolaminas vs. metanefrinas en el diagnóstico bioquímico de feocromocitoma y paraganglioma / Catecholamines vs. metanephrines in the biochemical diagnosis of pheochromocytoma and paraganglioma

RESUMEN Los tumores secretores de catecolaminas, feocromocitoma y paraganglioma son entidades poco frecuentes y potencialmente letales si no son diagnosticadas y tratadas a tiempo. El laboratorio cumple un rol fundamental en el diagnóstico y seguimiento de estos tumores a través de la evidencia bioquímica de un exceso de catecolaminas. Sin embargo, muchas veces suele ser dificultoso arribar a un diagnóstico temprano, debido a la baja incidencia de estos tumores y a la dificultad de hallar laboratorios con equipamiento especializado. El marcador bioquímico y las técnicas utilizadas para su medición han ido cambiando con el correr de los años. Tradicionalmente, la medición de catecolaminas en orina era la prueba bioquímica utilizada. Posteriores hallazgos de metabolitos aumentados en la orina de paciente llevaron al uso de ensayos colorimétricos para la detección de ácido vainillin mandélico y metanefrinas como marcadores diagnósticos adicionales de tumor. Las pruebas actuales para el diagnóstico bioquímico muestran una excelente precisión diagnóstica. La medición de metanefrinas libres de plasma utilizando cromatografía líquida de alta resolución con detección electroquímica o de espectrometría de masas en tándem proporciona la máxima precisión para el diagnóstico de estos tumores.

ABSTRACT Catecholamine-secreting neuroendocrine tumors called Pheochromocytoma and Paraganglioma are rare entities, but potentially lethal if diagnosis and treatment are not established early enough. Clinical Laboratory plays an important role in the diagnosis and follow-up of these tumors, through the biochemical evidence of a hyperproduction of catecholamines and its metabolites.

Huge pheochromocytoma presented with paraaortic lymph node and spine metastases / 영남의대학술지

Approximately 10–15% of pheochromocytomas are malignant. There are insufficient histologic criteria for the diagnosis of malignant pheochromocytoma. Thus, the term malignant pheochromocytoma is restricted to tumors with local invasion or distant metastases. We experienced a case of malignant pheochromocytoma recurred with spinal metastasis 4 years after the surgery for huge benign pheochromocytoma. A 68-year-old female was admitted for trunk and back pain. The patient had a history of surgery 4 years ago for a 10.0×9.5×7.5 cm sized benign pheochromocytoma at the left adrenal gland. A thoracolumbar magnetic resonance imaging showed a tumor in the 7th thoracic vertebral body and a 24-hour urinary norepinephrine increased, suggesting metastatic recurrence of malignant pheochromocytoma. After metastasectomy in the 7th thoracic vertebral body, urine catecholamine was normalized and pain also disappeared. However, a metastatic lesion was found in the paraaortic area on a follow-up abdominal computed tomography scan and an additional metastasectomy was performed. The pathology confirmed the diagnosis of metastatic pheochromocytoma in the paraaortic lymph nodes. She is supposed to be treated with adjuvant iodine 131-meta-iodobenzylguanidine therapy. In our experience, a close follow-up should be considered in patients who had a huge benign pheochromocytoma due to the possibility of malignant metastases.

Huge pheochromocytoma presented with paraaortic lymph node and spine metastases / 영남의대학술지

Approximately 10–15% of pheochromocytomas are malignant. There are insufficient histologic criteria for the diagnosis of malignant pheochromocytoma. Thus, the term malignant pheochromocytoma is restricted to tumors with local invasion or distant metastases. We experienced a case of malignant pheochromocytoma recurred with spinal metastasis 4 years after the surgery for huge benign pheochromocytoma. A 68-year-old female was admitted for trunk and back pain. The patient had a history of surgery 4 years ago for a 10.0×9.5×7.5 cm sized benign pheochromocytoma at the left adrenal gland. A thoracolumbar magnetic resonance imaging showed a tumor in the 7th thoracic vertebral body and a 24-hour urinary norepinephrine increased, suggesting metastatic recurrence of malignant pheochromocytoma. After metastasectomy in the 7th thoracic vertebral body, urine catecholamine was normalized and pain also disappeared. However, a metastatic lesion was found in the paraaortic area on a follow-up abdominal computed tomography scan and an additional metastasectomy was performed. The pathology confirmed the diagnosis of metastatic pheochromocytoma in the paraaortic lymph nodes. She is supposed to be treated with adjuvant iodine 131-meta-iodobenzylguanidine therapy. In our experience, a close follow-up should be considered in patients who had a huge benign pheochromocytoma due to the possibility of malignant metastases.

Manejo clínico y quirúrgico de los feocromocitomas y paragangliomas / Clinical and surgical management of pheochromocytomas and paragangliomas

Los feocromocitomas y paragangliomas (Feo/PGL) son tumores neurendocrinos raros con diferentes presentaciones clínicas, asociados a alta morbimortalidad. Reconocer los signos y síntomas es el paso diagnóstico inicial. Las metanefrinas fraccionadas urinarias tienen una excelente sensibilidad y especificidad. La tomografía computarizada (TC) es el método de elección para su localización. La tomografía por emisión de positrones (PET) con F18-fluordeoxiglucosa (F18-FDG) es el método funcional recomendado para detectar metástasis. La resección quirúrgica constituye la única opción curativa en estos pacientes. La adrenalectomía laparoscópica es la vía de abordaje para la mayoría los Feo/PGL. El tratamiento farmacológico, 7 a 14 días previos con alfabloqueantes y betabloqueantes, tiene como objetivo normalizar la presión arterial y prevenir complicaciones cardiovasculares periquirúrgicas. Se conoce que al menos un tercio de los pacientes presentan una mutación genética germinal. El estudio genético debe estar orientado a las características sindrómicas, formas de presentación, localización y fenotipo bioquímico del tumor. Se recomienda el abordaje interdisciplinario en centros especializados con experiencia en esta patología poco frecuente. (AU)

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors with different clinical manifestation associated with high morbidity and mortality. Recognize signs and symptoms is the first step in diagnosis. Urinary fractionated metanephrines have an excellent specificity and sensitivity. Computed Tomography (CT) is the first-choice imaging modality for location. F18-DG positron tomography (PET)/CT scanning is the functional modality of choice for metastatic disease. Surgery is the only curative treatment. Minimally invasive adrenalectomy is the surgical approach for most adrenal pheochromocytomas. Perioperative alpha and beta blockade for 7 to 14 days normalize blood pressure and prevent perioperative cardiovascular complications. Is recognize that at least one-third of the patients have disease-causing germline mutations. Genetic testing must be orientated to syndromic features, presentation, localization and biochemical profile of these tumors. Multidisciplinary teams at centers with appropriate expertise are recommended to ensure a favorable outcome. (AU)

Feocromocitoma gigante abscedado: A propósito de un caso / Giant pheochoromocytoma abscessed: A case report

Objetivos: Describir la presentación de un caso clínico de feocromocitoma gigante abscedado benigno debido a su baja frecuencia clínica. Caso clínico: Paciente masculino de 53 años, con enfermedad actual desde agosto/2013 caracterizada por hiporexia, astenia, dolor en hipocondrio derecho, concomitantemente fiebre en 39°C y pérdida de peso de 12 Kg en 4 meses, siendo referido a este centro. Durante su hospitalización presenta cifras tensionales elevadas y palpitaciones. Se realiza ecosonograma abdominal en 2 oportunidades con hallazgos de lesión ocupante de espacio (LOE) en segmentos hepáticos V y VI y lesión parenquimatosa renal derecha grado II. Se realiza TAC abdomino-pélvica con doble contraste donde se evidencia LOE suprarrenal derecho de aspecto neoproliferativo; se solicitan catecolaminas en orina de 24 horas que reportaron elevadas. Se inicia α y β bloqueo con doxazosin y propranolol. Posteriormente se realiza intervención quirúrgica: adrenalectomía derecha con vaciamiento ganglionar y nefrectomía derecha. Macroscópicamente se observó tumor adrenal de 25 cm de diámetro, con contenido purulento fétido en su interior, cuyo cultivo reportó Salmonella sp. La biopsia concluyó en feocromocitoma quístico abscedado con ausencia de hallazgos sugestivos de malignidad. Conclusión: El feocromocitoma es un tumor neuroendocrino con una baja prevalencia, la mayoría son menores de 6 cm, existiendo pocos reportes de casos de feocromocitomas mayores de 20 cm y de lesiones abscedadas, ambas comúnmente asociadas a malignidad. El diagnóstico definitivo es histológico. El tratamiento es la resección quirúrgica.

Objectives: To describe a case of a giant benign abscessed pheochromocytoma due to its low incidence. Clinical case: A fifty-three year old male patient, with current illness since august/2013, characterized by hyporexia, astenia, abdominal pain on right hypochondrium and 39°C fever with 12 kg weight loss in a 4 month period, was referred to this medical center. During hospital stay the patient presents elevated blood pressure and palpitations. An abdominal US is performed twice with the following findings: space-occupying lesion (SOL) on liver segments V and VI and a grade II right renal parenchymal lesion. A double contrast CT-Scan of the abdomen and pelvis is performed and reports a neo-proliferative right suprarenal mass. The 24-hour urinary catecholamine test result was high. α and β blocking with doxazosin and propranolol was initiated. Soon after he was operated: right adrenalectomy with lymph node resection and right nephrectomy. Grossly an adrenal tumor of 25 cm diameter is observed, with fetid, purulent inside content. Culture of purulent content reported Salmonella sp. Biopsy was concluded as cystic-abscessed pheochromocytoma with no suggestive findings of malignancy. Conclusion: Pheochromocytoma is a low prevalence neuroendocrine tumor. Most are less than 6cms, with few case reports of pheochromocytomas more than 20 cm and very few of abscessed lesions, both commonly associated with malignancy. The definitive diagnosis is histological. The treatment is surgical resection.

Development and Validation of Liquid Chromatography-Tandem Mass Spectrometry Method for Quantification of Plasma Metanephrines for Differential Diagnosis of Adrenal Incidentaloma

High-resolution imaging techniques have increased the detection rate of adrenal incidentaloma. We developed a method of liquid chromatography-tandem mass spectrometry (LC-MS/MS) for detection of plasma free metanephrine (MN) and normetanephrine (NMN) and evaluated its analytical performance and clinical efficacy in differential diagnosis of adrenal incidentaloma. After solid-phase extraction, chromatographic isolation of the analytes and internal standard was achieved by column elution in the LC-MS/MS system. The analytes were detected in multiple-reaction monitoring mode by using positive electrospray ionization: MN, transition m/z 180.1-->165.1; NMN, m/z 166.1-->134.1. This method was validated for linearity, precision, accuracy, lower limits of quantification and detection, extraction recovery, and the matrix effect. Plasma concentrations of MN and NMN of 14 patients with pheochromocytoma were compared with those of 17 healthy volunteers, 10 patients with essential hypertension, and 60 patients with adrenal adenoma. The assay's linear range was 0.04-50.0 and 0.08-100.0 nmol/L for MN and NMN, respectively. Assay imprecision was 1.86-7.50%. The accuracy ranged from -7.50% to 2.00%, and the mean recovery of MN and NMN was within the range 71.5-95.2%. Our LC-MS/MS method is rapid, accurate, and reliable and useful for differential diagnosis of adrenal incidentaloma.

Pheochromocytoma of the Urinary Bladder—A Rare Case

Pheochromocytomas of urinary bladder are rare tumours. They present with non-specific clinical signs and symptoms. We present a case of bladder pheochromocytoma who presented with recurrent attacks of headache and hypertension during micturition in otherwise normotensive female. On evaluation she was found to have paroxysmal hypertension and raised urinary metanephrines with well-defined mass at the base of the bladder. The patient was treated surgically by partial cystectomy and lesion was confirmed postoperatively.

The role of urinary fractionated metanephrines in the diagnosis of phaeochromocytoma.

Background & objectives: Plasma and urinary metanephrines are used as screening tests for the diagnosis of phaeochromocytoma. The recommended cut-off levels are not standardized. This study was conducted to identify a cut-off level for 24 h urinary fractionated metanephrines viz. metanephrine (uMN) and normetanephrine (uNMN) using enzyme immunoassay for the diagnosis of phaeochromocytoma. Methods: Consecutive patients suspected to have phaeochromocytoma were included in the study. uMN and uNMN in 24 h urinary sample were measured using a commercial ELISA kit. Results: Overall, 72 patients were included over a period of 18 months. Twenty patients had histopathologically confirmed phaeochromocytoma and in 52 patients phaeochromocytoma was ruled out. Using the upper limit of normal stated by the assay manufacturer as the cut-off, uMN >350 μg/day had a low sensitivity and uNMN >600 μg/day had a poor specificity. By increasing the cut-off value of uNMN to twice the upper limit, specificity increased significantly without much loss in sensitivity. Combining uMN and uNMN using a cut-off twice the upper limit improved the diagnostic performance - sensitivity (95%); specificity (92.3%); positive predictive value (PPV - 82.6%); negative predictive value (NPV - 98%). In subsets of patients with a variable pretest probability for phaeochromocytoma, the PPV correlates well with the occurred of these tumors decreased, while the NPV remained at 100 per cent. Interpretation & conclusions: ELISA is a simple and reliable method for measuring uMN and uNMN. The test has a good NPV and can be used as an initial screening test for ruling out phaeochromocytoma. Each hospital will have to define the cut-off value for the assay being used, choosing a proper control population.

Diagnosis and Treatment of Pheochromocytoma / 대한내과학회지

Pheochromocytomas are rare neuroendocrine tumours with a highly variable and heterogeneous clinical manifestation. With a noticeable progress in genetics, biochemical diagnosis and tumour imaging techniques, modifications of the traditional "rule of tens" for pheochromocytomas are inevitable consequence. Diagnosis of pheochromocytoma depends on biochemical evidence of catecholamine production by the tumor. Plasma free metanephrines provide the best test for excluding or confirming pheochromocytoma and should be used as an initial screening tool, but if it is not available, urinary fractionated metanephrines could be used as an alternative method. Different anatomical and functional imaging modalities are used to localize biochemically proven pheochromocytomas. These include computed tomography, magnetic resonance imaging, single-photon emission computed tomography (SPECT) using 123/131I-metaiodobenzylguanidine (MIBG) or 111In-DTPA-pentetreotide and positron emission tomography (PET). Timely laparoscopic tumour removal in combination with appropriate pre-and intraoperative management of the effects of secreted catecholamines are essential components for excellent prognosis.

The predictive value of urinary vanillylmandelic acid testing in the diagnosis of phaeochromocytoma at the University Hospital of the West Indies / El valor predictivo de la prueba del ácido vanilmandélico en orina para el diagnóstico de la feocromositoma en el Hospital Universitario de West Indies

OBJECTIVE: To investigate the positive predictive value (PPV) of urinary vanillylmandelic acid (VMA) testing in the diagnosis of phaeochromocytoma and to describe the features associated with phaeo chromocytoma at the University Hospital of the West Indies (UHWI). SUBJECTS AND METHODS: There were 551 VMA tests performed from January 2003 to June 2009 and 122 tests in 85 patients were elevated (ie > 35 µmol/24 hr). The study patients were categorized as: (i) 'surgical' (5 patients who underwent surgery) or (ii) 'non-surgical' (remaining 80 patients). Forty medical charts (out of 85) were reviewed using a standardized data extraction form. RESULTS: The median age for patients in the non-surgical group (with charts reviewed, n = 35) was 36 years (range 9-70) and the median VMA was 43 µmol/24 hr (IQR 38-51). Of these patients, 83% had one or no symptom typical of phaeochromocytoma. In the surgical group the median VMA was 58 µmol/24 hr (IQR 44-101); phaeochromocytoma was confirmed histologically in 3 patients, all of whom had several symptoms typical of catecholamine excess. VMA testing had a PPV of 8%, specificity of 79% and sensitivity of 100%. CONCLUSIONS: VMA testing at UHWI has poor specificity and high sensitivity. These results contrast with international data showing that VMA testing is poorly sensitive but highly specific. The use of assays with higher specificity (egplasma or urinary metanephrines) may represent a more cost-effective approach to biochemical screening at UHWI.

OBJETIVO: Investigar el valor predictivo positivo (VPP) de las pruebas del ácido vanilmandélico urinario (VMA) en el diagnóstico de la feocromositoma y describir las características asociadas con la feocromositoma en el Hospital de la Universidad de West Indies (HUWI). SUJETOS Y MÉTODOS: Se realizaron unas 551 pruebas de VMA de enero de 2003 a junio de 2009, y 122 de las pruebas en 85 pacientes tuvieron resultados elevados (ie > 35 µmol/24 hr). Los pacientes del estudio fueron clasificados como: (i) "quirúrgicos" (5 pacientes que se sometieron a cirugía) ó (ii) "no quirúrgicos" (los 80 pacientes restantes). Se revisaron cuarenta historias clínicas (de 85) mediante un formulario estandarizado de extracción de datos. RESULTADOS: El promedio de edad de los pacientes en el grupo no quirúrgico (con historias clínicas, n = 35) fue de 36 años (rango 9-70) y la mediana VMA fue 43 µmol/24 h (IQR 38-51). De estos pacientes, 83% tenían uno o ningún síntoma típico de la feocromositoma. En el grupo quirúrgico la mediana VMA fue 58 µmol/24 h (IQR 44-101). La feocromositoma fue confirmada histológicamente en 3 pacientes, cada uno de los cuales presentó síntomas típicos de exceso de catecolaminas. Las pruebas de VMA tuvieron un VPP de 8%, una especificidad de 79%, y una sensibilidad de 100%. CONCLUSIONES: Las pruebas de VMA en HUWI poseen pobre especificidad y alta sensibilidad. Estos resultados contrastan con los datos internacionales que muestran que la prueba de VMA es pobremente sensible pero altamente específica. El uso de ensayos con mayor especificidad (por ejemplo, metanefrinas plasmáticas o urinarias) puede representar un método costo-efectivo a la hora de realizar el pesquisaje bioquímico en HUWI.

The diagnosis and therapy of pheochromacytoma / 中国实用内科杂志

The definition of pheochromacytoma is the tumor derived from the adrenal chromaffin cell excessive producing catecholamines.Until now,the urine and plasma metanephrines(MNs) determined by HPLC-ED is considered as the first choice for the biochemical diagnosis of pheochromacytoma.According to the clinical pathway,the location of pheochromocytoma is determined by imaging methods including CT,MRI and PET,however,123I-MIBG is a more specific method for location of the tumor.The candidate genes screening including RET,VHL,SDHD,SDHB and NF1 have been recommended.The surgery to remove the tumor is the first choice for curing of pheochromacytoma.