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1.
Pediatr Blood Cancer ; 67(8): e28332, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32491270

RESUMO

BACKGROUND: Pheochromocytomas (PCs) are neuroendocrine tumors arising from the chromaffin cells of the adrenal gland, and paragangliomas (PGLs) are their extra-adrenal counterparts arising from ganglia along the sympathetic/parasympathetic chain. Surgery is the cornerstone of treatment. A sporatic or inherited germline mutation is commonly associated. MATERIALS AND METHODS: Among over 1000 patients registered into the Tumori Rari in Età Pediatrica-rare tumors in pediatric age project-from 2000 to 2019, 50 were affected by PC/PGL. All clinical and therapeutic data were evaluated. RESULTS: Twenty-eight patients had PC and 22 had PGL. Age at diagnosis ranged between 5 and 17 years. Thirty-five patients had symptoms related to catecholamine hypersecretion; in 7 of 50 patients, diagnosis was incidental or done during assessment of a familial syndrome. In all cases, conventional imaging was effective to assess the presence of a tumor. In addition, 18 of 38 functional imaging studies were positive (61%). Forty-eight patients were eligible for surgery: a complete resection was more frequently achieved in PC than in PGL (26/28 vs 11/22). All relapses were treated with surgery alone, surgery plus medical treatment, or chemotherapy alone; one PC with metastasis at diagnosis received radiotherapy only. Forty-four patients were in the first, second, or third complete remission (10/50 recurred; 8/10 carried a germline mutation). Five of 50 patients were alive with disease. One patient died of disease. CONCLUSIONS: Surgery can be curative in most tumors but it may not be always effective in removing PGLs. Severe postsurgical sequelae may affect these patients. Genetic tests should always be considered in individuals affected, and genetic counseling should be offered to their families.


Assuntos
Neoplasias das Glândulas Suprarrenais , Recidiva Local de Neoplasia , Paraganglioma , Feocromocitoma , Adolescente , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Itália , Masculino , Metástase Neoplásica , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/terapia , Paraganglioma/diagnóstico , Paraganglioma/terapia , Feocromocitoma/diagnóstico , Feocromocitoma/terapia , Estudos Prospectivos
2.
Medicine (Baltimore) ; 99(25): e20858, 2020 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-32569235

RESUMO

RATIONALE: Ectopic pheochromocytoma is a special type of pheochromocytoma which occurs outside the adrenal gland. The most common symptoms of ectopic pheochromocytoma are palpitations, headaches, profuse sweating, and hypertension. In clinical practice, diagnosis of ectopic pheochromocytoma remains difficult. PATIENT CONCERNS: The patient was a 43-year-old female who was admitted to our hospital with the chief complaint of upper abdominal discomfort for 1 week. Computed tomography demonstrated a neoplasm in the head of pancreas. The patient also had history of hypertension and type-2 diabetes. DIAGNOSIS: According to the postoperative pathological examination, the lesion was mainly composed of chromaffin cells. Immunohistochemical staining revealed that the tumor expressed chromogranin A, NSE, and synaptophysin. Based on these findings, this mass was diagnosed as benign ectopic pheochromocytoma (paraganglioma). INTERVENTIONS: Surgical resection operation was carried out and the patient's blood pressure was monitored continuously. Vasopressor or anti-hypertensive drugs were used according to circumstances. OUTCOMES: The patient recovered well and was discharged from hospital with normal blood pressure. LESSONS: This report reminds us to pay close attention to the likelihood of ectopic pheochromocytoma and other low-incidence diseases. Physicians and imaging clinicians should explore all clinical possibilities to avoid missed diagnosis or misdiagnosis of ectopic pheochromocytoma and take effective treatment measures to maximize patient benefits.


Assuntos
Neoplasias Pancreáticas/diagnóstico , Feocromocitoma/diagnóstico , Adulto , Feminino , Humanos , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/cirurgia , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/cirurgia , Tomografia Computadorizada por Raios X
3.
Cancer Genet ; 243: 1-6, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32179488

RESUMO

Inherited germline mutations in the VHL gene cause predisposition to Von Hippel-Lindau (VHL) disease. Patients exhibit benign and cancerous lesions in multiple tissues, including hemangioblastomas, clear cell renal cell carcinoma, cysts in kidneys and pancreas, and pheochromocytomas. Although pathogenic germline mutations in the VHL gene have been widely described in different populations, only a single mutation was previously reported in a family from mixed Arab-Persian ethnicity. Here, we present five Arab patients with two new and two recurrent germline mutations in the VHL gene. These mutations include three in-frame deletions and a missense mutation. Infrequent in-frame deletions in previously described patients from other populations, as well as the presence of new mutations, suggests a distinct spectrum of VHL gene mutations in Arab patients. While pulmonary manifestation has been described rarely in VHL disease, we have identified two patients with a recurrent p.Phe76del in-frame deletion exhibiting multiple nodules in lungs. We also describe a first-ever in-frame deletion in the VHL gene in a patient with VHL type 2C disease, exhibiting bilateral pheochromocytoma. Overall, the study provides an insight into the genotype-phenotype relationship of VHL disease in Arab patients and provides a comparison with previously described patients from other ethnicities.


Assuntos
Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Glândulas Suprarrenais/diagnóstico por imagem , Adulto , Idoso , Árabes/genética , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/genética , Neoplasias Cerebelares/diagnóstico , Neoplasias Cerebelares/genética , Cerebelo/diagnóstico por imagem , Pré-Escolar , Análise Mutacional de DNA , Feminino , Mutação em Linhagem Germinativa , Hemangioblastoma/diagnóstico , Hemangioblastoma/genética , Humanos , Rim/diagnóstico por imagem , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Pulmão/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Imagem por Ressonância Magnética , Masculino , Anamnese , Pessoa de Meia-Idade , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Arábia Saudita , Tomografia Computadorizada por Raios X , Doença de von Hippel-Lindau/diagnóstico
4.
Eur J Endocrinol ; 182(5): 499-509, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32187575

RESUMO

Objective: Sympathoadrenal activity is decreased during overnight rest. This study assessed whether urinary-free normetanephrine, metanephrine and methoxytyramine in overnight/first-morning urine collections might offer an alternative to measurements in 24-h collections or plasma for diagnosis of pheochromocytoma and paraganglioma (PPGL). Design and methods: Prospective multicenter cross-sectional diagnostic study involving 706 patients tested for PPGL, in whom tumors were confirmed in 79 and excluded in 627 after follow-up. Another 335 age- and sex-matched volunteers were included for reference purposes. Catecholamines and their free O-methylated metabolites were measured in 24-h collections divided according to waking and sleeping hours and normalized to creatinine. Plasma metabolites from blood sampled after supine rest were measured for comparison. Results: Urinary outputs of norepinephrine, normetanephrine, epinephrine and metanephrine in the reference population were respectively 50 (48-52)%, 35 (32-37)%, 76 (74-78)% and 15 (12-17)% lower following overnight than daytime collections. Patients in whom PPGLs were excluded showed 28 (26-30)% and 6 (3-9)% day-to-night falls in normetanephrine and metanephrine, while patients with PPGLs showed no significant day-to-night falls in metabolites. Urinary methoxytyramine was consistently unchanged from day to night. According to receiver-operating characteristic curves, diagnostic accuracy of metabolite measurements in overnight/first-morning urine samples did not differ from measurements in 24-h urine collections, but was lower for both than for plasma. Using optimized reference intervals, diagnostic specificity was higher for overnight than daytime collections at similar sensitivities. Conclusions: Measurements of urinary-free catecholamine metabolites in first-morning/overnight urine collections offer an alternative for diagnosis of PPGL to 24-h collections but remain less accurate than plasma measurements.


Assuntos
Neoplasias das Glândulas Suprarrenais/urina , Dopamina/análogos & derivados , Metanefrina/urina , Paraganglioma/urina , Feocromocitoma/urina , Adolescente , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/urina , Dopamina/urina , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paraganglioma/diagnóstico , Feocromocitoma/diagnóstico , Adulto Jovem
5.
BMC Surg ; 20(1): 49, 2020 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-32178651

RESUMO

BACKGROUND: Pheochromocytoma (PCC) and Paraganglioma (PGL) are rare neuroendocrine neoplasms. These tumors harbour disastrous consequences during surgery due to catecholamine hypersecretion if they are undiagnosed or prepared inadequately preoperatively. CASE PRESENTATION: A 41- year- old lady presented with mild left flank discomfort. She had experienced recurrent anxiety attacks accompanied by palpitations and headache which were managed previously as panic attacks. Radiologic investigations showed a retroperitoneal mass that located anteromedial to the left kidney, separated from the left adrenal gland and adherent to the 4th duodenal segment. During admission, her vital signs showed slight elevation of blood pressure (140\90-160\110) mmHg, thus 24-h urine metanephrine and normetanephrine were requested and the results revealed normal values. Upper gastrointestinal endoscopy failed to pass beyond the 3th duodenal segment and showed no pathologic evidence. According to her findings, a diagnosis of duodenal gastrointestinal stromal tumor (GIST) was suspected. During laparotomy, crises of hypertension and tachycardia followed by severe hypotension made the resection of the misdiagnosed mass very tricky. Immunohistochemical staining studies confirmed the diagnosis of paraganglioma. CONCLUSION: Paraganglioma is a life threatening disease and should always be considered as a differential diagnosis of asymptomatic retroperitoneal mass. The aim of our study is to present a challenging case of an undiagnosed retroperitoneal paraganglioma and to alarm our colleagues from such troubles.


Assuntos
Tumores do Estroma Gastrointestinal/diagnóstico , Paraganglioma/diagnóstico , Neoplasias Retroperitoneais/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adulto , Pressão Sanguínea , Diagnóstico Diferencial , Erros de Diagnóstico , Feminino , Neoplasias Gastrointestinais/diagnóstico , Humanos , Hipertensão/diagnóstico , Laparotomia/efeitos adversos , Feocromocitoma/diagnóstico , Neoplasias Retroperitoneais/cirurgia
6.
S D Med ; 73(2): 78-80, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32135056

RESUMO

Catecholamine-induced cardiomyopathy (CIC) and pheochromocytoma are both rare entities, and their exact incidence and prevalence are unknown. Pheochromocytoma has been implicated as one of the causes of CIC or Takotsubo syndrome (TTS) by means of case reports and retrospective reviews. However, the evaluation of any patient with TTS and pheochromocytoma is often faced with multiple challenges due to its rarity and atypical presentations, which subsequently leads to delay in diagnosis. Here, we present a case of a 51-year old female who had three distinct episodes of TTS and now presented in a hypertensive emergency with angina, palpitations, headache, nausea, and vomiting. She was treated for non-ST elevation myocardial infarction (NSTEMI) but coronary angiogram revealed patent coronary arteries. Due to the paroxysmal nature of her hypertensive emergencies and variable blood pressure response, pheochromocytoma was suspected. On further evaluation, she was found to have elevated metanephrines and a 6.3 cm left adrenal mass on CT scan. This case emphasizes the importance of considering or identifying pheochromocytoma as an underlying primary etiology for recurrent episodes of TTS and related concerns such as choice of anti-hypertensive agents.


Assuntos
Neoplasias das Glândulas Suprarrenais , Catecolaminas , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/induzido quimicamente , Neoplasias das Glândulas Suprarrenais/diagnóstico , Catecolaminas/efeitos adversos , Emergências , Feminino , Humanos , Pessoa de Meia-Idade , Feocromocitoma/induzido quimicamente , Feocromocitoma/diagnóstico , Estudos Retrospectivos
7.
BMC Med Genet ; 21(1): 42, 2020 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-32106822

RESUMO

BACKGROUND: von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous mutations are expected to be phenotypically silent and their role in VHL disease remains poorly understood. CASE PRESENTATION: We report a Caucasian male with a family history of pheochromocytoma and the synonymous VHL mutation c.414A > G (p.Pro138Pro). At 47-years, MRI revealed pheochromocytoma in the left adrenal gland and hemangioblastomas in the spine and brain. Pheochromocytoma was treated by adrenalectomy. Radiotherapy, followed by craniotomy and resection were needed to reduce hemangioblastomas to residual lesions. Two of three of the proband's children inherited the mutation and both presented with retinal hemangioblastomas without pheochromocytoma at age 7: one twin needed four laser treatments. Primary skin fibroblasts carrying the heterozygous mutation or wild type VHL were established from the family. Mutant fibroblasts downregulated full-length VHL mRNA and protein, and upregulated the short VHL mRNA isoform (a result of exon 2 skipping in splicing) at the mRNA level but not at the protein level. CONCLUSIONS: Our study shows that the synonymous VHL mutation c.414A > G can within 7 years induce pediatric retinal hemangioblastoma in absence of pheochromocytoma. This highlights the need to include splicing-altering synonymous mutations into the screening for VHL disease. This is also the first report on detecting and validating a synonymous VHL mutation using patient-derived fibroblasts. The mutation c.414A > G translates to p.Pro138Pro, yet it is not functionally silent, because it causes aberrant splicing by skipping exon 2. The reduced but not completely abolished pVHL protein in a loss-of-heterozygosity genetic backdrop may underlie the etiology of VHL disease.


Assuntos
Neoplasias Cerebelares/genética , Hemangioblastoma/genética , Processamento de RNA/genética , Mutação Silenciosa , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/diagnóstico , Criança , Pré-Escolar , Família , Feminino , Mutação da Fase de Leitura/genética , Mutação em Linhagem Germinativa , Hemangioblastoma/complicações , Hemangioblastoma/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/genética , Linhagem , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Prolina/genética , Neoplasias da Retina/complicações , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/genética , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/genética , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética
8.
Clin Biochem ; 77: 26-31, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31978379

RESUMO

OBJECTIVE: Pheochromocytoma/Paraganglioma (PPGL) is a rare tumor with non-specific presentations overlapping common entities like anxiety, hypertension, acute illness and episodic "spells." Assessment of urine normetanephrine or metanephrine (UNM-UMN) in real-life, where PPGL is very rare and PPGL mimics extremely common, may show overlap in results with loss of specificity depending on the reference range. We determined the extent to which UNM-UMN are high in people undergoing screening for PPGL. DESIGN AND METHODS: Retrospective review of all UNM-UMN performed in a central lab serving Southern Alberta over 8 years. RESULTS: After excluding pediatric ages and patients with CKD, there were 12,572 unique patients with 14,383 measures of UNM-UMN. 85 patients (0.7%) had markedly high UNM-UMN compatible with likely PPGL. Depending on the age category (in decades), 10-22% of all UNM results were above the upper reference limit(URL), particularly between ages of 40-60. Less than 3% had elevations in both UNM and UMN. Of those with high UNM, 99% were less than 3-fold the URL. Based on the population data, a potential new reference range for UNM is suggested, which may be more appropriate to the types of patient who undergo this form of testing. CONCLUSIONS: There is an extraordinarily high prevalence of high UNM seen in real-life use of the test. However, the vast majority of high UNM are unlikely to be PPGL given the disease rarity and the massive number of tests ordered. This suggests the current laboratory URL may be too low (poor specificity) and/or the reference range may not be appropriate to the type of patient being screened for PPGL. Depending on the frequency of use of any screening test in a population, if the disease is rare and the specificity of the test is poor, a high rate of false positive results will be expected.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Feocromocitoma/diagnóstico , Reações Falso-Positivas , Humanos , Metanefrina/urina
9.
BMC Vet Res ; 16(1): 3, 2020 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-31900158

RESUMO

BACKGROUND: Pheochromocytoma (PCC) has poor prognosis and adrenalectomy is hard to be performed, in case of caudal vena cava invasion. The long-term administration of phenoxybenzamine in PCC has not been reported in dogs. CASE PRESENTATION: A 14-year-old castrated male Poodle dog presented with an abdominal mass. On physical examination, hypertension, increased lens opacity, calcinosis cutis, generalized alopecia, and systolic murmur were observed. Serum chemistry and urinalysis profiles revealed hyperglycemia, hypercholesterolemia, elevated liver enzymes, and glucosuria. Abdominal ultrasonography showed a right adrenal mass with invasion of the caudal vena cava, which was cytologically diagnosed as suspected PCC. An adrenal mass (width × height × length, 28 × 26 × 48 mm3) was found on computed tomography and diagnosed as PCC with increased plasma metanephrines and normetanephrines. An adrenocorticotropin hormone stimulation test showed elevated adrenal hormones (androstenedione, estradiol, progesterone, and 17-OH progesterone) with normal cortisol, compatible with atypical Cushing's syndrome. The dog was managed with trilostane, phenoxybenzamine, and insulin therapy. Glycosylated hemoglobin and fructosamine levels gradually decreased, and hypertension resolved. In the 10-month follow-up period, the liver enzymes levels gradually decreased, and the clinical signs of the dog were well-controlled without deterioration. CONCLUSIONS: This case report describes long-term medical management without adrenalectomy of PCC complicated with atypical Cushing's syndrome and DM.


Assuntos
Neoplasias das Glândulas Suprarrenais/veterinária , Doenças do Cão/diagnóstico , Feocromocitoma/veterinária , Neoplasias das Glândulas Suprarrenais/diagnóstico , Antagonistas Adrenérgicos alfa/uso terapêutico , Animais , Antineoplásicos/uso terapêutico , Síndrome de Cushing , Diabetes Mellitus/tratamento farmacológico , Di-Hidrotestosterona/análogos & derivados , Di-Hidrotestosterona/uso terapêutico , Doenças do Cão/tratamento farmacológico , Cães , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Masculino , Fenoxibenzamina/uso terapêutico , Feocromocitoma/diagnóstico , Feocromocitoma/tratamento farmacológico , Resultado do Tratamento
10.
Neoplasma ; 67(1): 27-36, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31686522

RESUMO

Noninvasive imaging methods for the diagnosis and risk stratification of pheochromocytomas (PHEOs) remain a great clinical challenge. The glucagon-like peptide-1 receptor (GLP-1R) has been validated to be overexpressed in PHEOs and therefore may be a reliable target for PHEOs. In this study, we firstly synthesized a novel radiotracer 68Ga-NOTA-MAL-Cys39-exendin-4 that specifically targets GLP-1R and evaluated the performance of GLP-1R PET for the diagnosis and risk stratification of PHEOs. Cys39-exendin-4 was conjugated to NOTA-MAL and then radiolabeled with 68Ga. The reaction was completed within 20 min with a yield of 91.6 ± 2.8%. In vitro cell uptake studies validated its high specificity. PET images showed promising tumor visualization with high uptake (1.88 ± 0.10 %ID/g for PC-12 poorly differentiated tumors and 1.09 ± 0.003 %ID/g for PC-12 highly differentiated tumors at 30min after injection). There was a significant difference in the uptake of 68Ga-NOTA-MAL-Cys39-exendin-4 between PC-12 poorly and highly differentiated tumors (p < 0.001), but no significant difference could be observed by 18F-FDG PET. Biodistribution results confirmed the findings of GLP-1R PET and demonstrated that 131I-MIBG couldn't be used for the risk stratification of PHEOs. Immunohistochemistry (IHC) staining revealed differences in GLP-1R expression between PC-12 poorly and highly differentiated tumor tissues. These results demonstrated that 68Ga-NOTA-MAL-Cys39-exendin-4 can specifically target GLP-1R with favorable pharmacokinetic properties. GLP-1R PET can be used for PHEOs detection and has potential for the risk stratification of PHEOs.


Assuntos
Receptor do Peptídeo Semelhante ao Glucagon 1/genética , Feocromocitoma/diagnóstico , Humanos , Radioisótopos do Iodo , Feocromocitoma/genética , Tomografia por Emissão de Pósitrons , Medição de Risco , Distribuição Tecidual
11.
BMC Urol ; 19(1): 118, 2019 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-31747934

RESUMO

BACKGROUND: Pheochromocytoma is well-known for sudden initial presentations, particularly in younger patients. Hemodynamic instability may cause serious complications and delay a patient's ability to undergo surgical resection. Larger tumors present a further challenge because of the risk of catecholamine release during manipulations. In the case we present, increases in systemic vascular resistance caused cardiogenic shock, and the size of the lesion prompted surgeons to veer off from their usual approach. CASE PRESENTATION: A 38-year-old female patient was admitted to our intensive care unit with hypertension and later cardiogenic shock. Profound systolic dysfunction (left ventricular ejection fraction of 0.12) was noted together with severely increased systemic vascular resistance, and gradually responded to vasodilator infusion. A left-sided 11-cm adrenal mass was found with computed tomography and confirmed a pheochromocytoma with a meta-iodo-benzyl-guanidine scintigraphy. Surgical treatment was carefully planned by the endocrinologist, anesthesiologist and surgeon, and was ultimately successful. After prolonged hemodynamic stabilization, open adrenalectomy and nephrectomy were deemed safer because of lesion size and the apparent invasion of the kidney. Surgery was successful and the patient was discharged home 5 days after surgery. She is free from disease at almost 2 years from the initial event. CONCLUSIONS: Large, invasive pheochromocytoma can be safely and effectively managed with open resection in experienced hands, provided all efforts are made to achieve hemodynamic stabilization and to minimize. Catecholamine release before and during surgery.


Assuntos
Neoplasias das Glândulas Suprarrenais/cirurgia , Feocromocitoma/cirurgia , Neoplasias das Glândulas Suprarrenais/patologia , Adulto , Feminino , Humanos , Equipe de Assistência ao Paciente , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/patologia , Choque Cardiogênico/etiologia
12.
Endocrinol Metab Clin North Am ; 48(4): 727-750, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31655773

RESUMO

Pheochromocytomas are rare neuroendocrine tumors. Extra-adrenal lesions arising from the autonomic neural ganglia are termed paraganglioma. Clinical symptoms are common between the adrenal and extra-adrenal forms and are determined by excess secretion of catecholamines. Hypertension is a critical and often dramatic feature of pheochromocytoma/paraganglioma, and its most prevalent reported symptom. However, given the rare occurrence of this cancer, in patients undergoing screening for hypertension, the prevalence ranges from 0.1% to 0.6%. Still, patients frequently come to the attention of endocrinologist when pheochromocytoma/paraganglioma is suspected as a secondary cause of hypertension. This article summarizes current clinical approaches in patients with pheochromocytoma/paraganglioma.


Assuntos
Neoplasias das Glândulas Suprarrenais , Hipertensão , Tumores Neuroendócrinos , Paraganglioma , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Humanos , Hipertensão/diagnóstico , Hipertensão/tratamento farmacológico , Hipertensão/etiologia , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/terapia , Paraganglioma/complicações , Paraganglioma/diagnóstico , Paraganglioma/terapia , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/terapia
13.
Endocrinol Metab Clin North Am ; 48(4): 751-764, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31655774

RESUMO

Pseudopheochromocytoma manifests as severe, symptomatic paroxysmal hypertension without significant elevation in catecholamine and metanephrine levels and lack of evidence of tumor in the adrenal gland. The clinical manifestations are similar but not identical to those in excess circulating catecholamines. The underlying symptomatic mechanism includes augmented cardiovascular responsiveness to catecholamines alongside heightened sympathetic nervous stimulation. The psychological characteristics are probably attributed to the component of repressed emotions related to a past traumatic episode or repressive coping style. Successful management can be achieved by strong collaboration between a hypertension specialist and a psychiatrist or psychologist with expertise in cognitive-behavioral panic management.


Assuntos
Neoplasias das Glândulas Suprarrenais , Hipertensão , Transtorno de Pânico , Feocromocitoma , Transtornos Somatoformes , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Humanos , Hipertensão/diagnóstico , Hipertensão/etiologia , Hipertensão/terapia , Transtorno de Pânico/complicações , Transtorno de Pânico/diagnóstico , Transtorno de Pânico/terapia , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/terapia , Transtornos Somatoformes/complicações , Transtornos Somatoformes/diagnóstico , Transtornos Somatoformes/terapia
14.
Endocrinol Metab Clin North Am ; 48(4): 829-842, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31655779

RESUMO

Hypertension is a common clinical complication in pregnancy, representing possible short-term and long-term risks of complications for both mothers and babies. Even if in a majority of cases hypertension is essential, possible secondary causes, which can be related to endocrine disorders, must be detected and correctly managed. This review focuses on the evaluation and the management of primary hyperaldosteronism, Cushing syndrome, and pheochromocytoma in pregnancy.


Assuntos
Neoplasias das Glândulas Suprarrenais , Síndrome de Cushing , Hiperaldosteronismo , Hipertensão , Feocromocitoma , Complicações na Gravidez , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Síndrome de Cushing/complicações , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/terapia , Feminino , Humanos , Hiperaldosteronismo/complicações , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/terapia , Hipertensão/diagnóstico , Hipertensão/etiologia , Hipertensão/terapia , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/terapia , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/etiologia , Complicações na Gravidez/terapia
15.
Ann Endocrinol (Paris) ; 80(5-6): 314-318, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31606198

RESUMO

INTRODUCTION: Excess catecholamine stimulates heat production in brown adipose tissue (BAT). Activation of BAT can be detected in patients presenting pheochromocytoma. CASE STUDY: A 58-year-old female patient sought medical advice due to 13 kg weight loss over 2 years accompanied by sweating and high blood pressure. Thoracic-abdominal-pelvic CT-scan revealed a solid 40 mm mass in the left adrenal compartment with peri-adrenal nodules and a solid 80 mm mass at the lower end of the right kidney. 18FDG-PET scan exhibited intense uptake in the supraclavicular, intercostal, mediastinal, peri-renal, mesenteric, iliac and inguinal spaces. Renal tumor with locoregional infiltration and remote metastases was initially considered. Diagnosis of pheochromocytoma was subsequently confirmed by a 10-fold increase in urinary catecholamine, metanephrine and normetanephrine levels. Left adrenalectomy confirmed the diagnosis of pheochromocytoma, with 3 lymph-node metastases in the adjacent adipose tissue surrounded by brown fat. The patient was clinically asymptomatic with normal blood pressure at 3 months post-surgery. A weight gain of 6 kg was recorded, with normalisation of catecholamines/metanephrine/normetanephrine levels. Bilateral peri-renal infiltration (including the right renal mass) disappeared on CT-scan, and TEP-18-FDG no longer showed hypermetabolism. Recurrent mediastinal metastases were diagnosed 6 months after surgery. CONCLUSION: Brown fat activation may mislead diagnosis of pheochromocytoma, suggesting multi-metastatic extra-adrenal tumor, if clinicians are not aware of it.


Assuntos
Tecido Adiposo Marrom/fisiologia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Feocromocitoma/diagnóstico , Perda de Peso , Tecido Adiposo Marrom/patologia , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/fisiopatologia , Adrenalectomia , Catecolaminas/urina , Feminino , Humanos , Hipertensão , Metástase Linfática/patologia , Pessoa de Meia-Idade , Metástase Neoplásica/diagnóstico , Feocromocitoma/patologia , Feocromocitoma/fisiopatologia , Tomografia por Emissão de Pósitrons , Sudorese , Tomografia Computadorizada por Raios X
16.
Rev Med Interne ; 40(11): 733-741, 2019 Nov.
Artigo em Francês | MEDLINE | ID: mdl-31493938

RESUMO

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors that arise from the adrenal medulla or sympathetic and parasympathetic ganglia. These tumors produce most often catecholamines in excess, causing hypertension and sometimes severe acute cardiovascular complications. The diagnosis is based on plasma or urines metanephrines measurements and on conventional and nuclear medicine imaging. Catecholamines-producing PPGL is very unlikely if levels are normal. The diagnosis of PPGL cannot be made without visualization of a tumor. Therapeutic management consists mostly of surgical excision, after drug preparation, and should be done in referral centers. About 40% of pheochromocytomas and paragangliomas occur in the context of an autosomal inherited syndrome, making genetic testing essential. The follow-up must be prolonged because a metastatic evolution or a recurrence can be observed in about 15% of the cases.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Paraganglioma/diagnóstico , Paraganglioma/terapia , Feocromocitoma/diagnóstico , Feocromocitoma/terapia , Glândulas Suprarrenais/diagnóstico por imagem , Adrenalectomia , Antagonistas Adrenérgicos alfa/uso terapêutico , Antagonistas Adrenérgicos beta/uso terapêutico , Algoritmos , Catecolaminas/análise , Continuidade da Assistência ao Paciente , Testes Genéticos , Cardiopatias/etiologia , Humanos , Hipertensão/etiologia , Radioterapia Adjuvante
17.
Endocr Regul ; 53(3): 191-212, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31517632

RESUMO

Pheochromocytomas are rare tumors originating in the adrenal medulla. They may be sporadic or in the context of a hereditary syndrome. A considerable number of pheochromocytomas carry germline or somatic gene mutations, which are inherited in the autosomal dominant way. All patients should undergo genetic testing. Symptoms are due to catecholamines over production or to a mass effect. Diagnosis is confirmed by raised plasma or urine metanephrines or normetanephrines. Radiology assists in the tumor location and any local invasion or metastasis. All the patients should have preoperative preparation with α-blockers and/or other medications to control hypertension, arrhythmia, and volume expansion. Surgery is the definitive treatment. Follow up should be life-long.


Assuntos
Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias das Glândulas Suprarrenais/história , Neoplasias das Glândulas Suprarrenais/terapia , Adulto , Criança , Feminino , Predisposição Genética para Doença , História do Século XX , História do Século XXI , Humanos , Masculino , Feocromocitoma/diagnóstico , Feocromocitoma/epidemiologia , Feocromocitoma/história , Feocromocitoma/terapia , Gravidez
18.
BMJ Case Rep ; 12(8)2019 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-31434676

RESUMO

Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is rarely caused by a phaeochromocytoma. We report a case of a 51-year-old woman with an 8-year history of severe constipation who underwent extensive investigations including gastroscopy, colonoscopy, ultrasonography, colonic transit studies and isotope defeacography, which did not reveal any pathology other than slow colonic transit time. The unifying diagnosis of ectopic ACTH and phaeochromocytoma was made after the case was initially investigated for an adrenal incidentaloma. Multiple challenges had to be overcome prior to surgery for the functioning adrenal adenoma including management of refractory hypokalaemia, poor nutritional status, persistent hyperglycaemia, labile blood pressure and florid hypercortisolaemia driving the metabolic derangements. She underwent an uneventful left-sided adrenalectomy and required no medication thereafter with normal blood pressure, blood glucose and serum potassium and resolution of constipation and abdominal symptoms. In conclusion, patients with EAS related to phaeochromocytoma are rare and present with distinctive diagnostic and management challenges but if diagnosed successfully and managed intensively, they are curable.


Assuntos
Síndrome de ACTH Ectópico/diagnóstico , Constipação Intestinal/etiologia , Feocromocitoma/diagnóstico , Síndrome de ACTH Ectópico/complicações , Síndrome de ACTH Ectópico/cirurgia , Adrenalectomia , Doença Crônica , Constipação Intestinal/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Feocromocitoma/complicações , Feocromocitoma/cirurgia , Resultado do Tratamento
19.
BMJ Case Rep ; 12(8)2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31439569

RESUMO

Phaeochromocytomas are rare neuroendocrine tumours (NET) with malignant behaviour in about 10% of cases. The median time from the diagnosis of primary tumour and bone metastasis is 3.4 years. We report a case of a 66-year-old woman presenting with a hypertensive crisis and back pain. She has a history of a phaeochromocytoma completely resected 18 years before. MRI showed a neoplastic mass on the 10th thoracic vertebra (T10), with fracture and spinal cord compression. The CT-guided biopsy was consistent with metastasis of a NET. Therefore, she was treated with phenoxybenzamine and external beam radiotherapy. However, clinical (dorsal pain) and biochemical (ie, elevated chromogranin A) signs suggested persistent disease and the patient was treated with iodine-131 metaiodobenzylguanidine and T10 kyphoplasty. After 8 years, she remains clinically stable. This case demonstrates that phaeochromocytomas may reveal malignant behaviour several years after diagnosis, and therefore patients should be maintained under long term surveillance.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Feocromocitoma/diagnóstico , Neoplasias da Coluna Vertebral/diagnóstico , Vértebras Torácicas , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/cirurgia , Idoso , Dor nas Costas/etiologia , Diagnóstico Diferencial , Feminino , Humanos , Metástase Neoplásica , Feocromocitoma/secundário , Feocromocitoma/cirurgia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/secundário , Neoplasias da Coluna Vertebral/cirurgia , Tomografia Computadorizada por Raios X
20.
Curr Cardiol Rep ; 21(9): 104, 2019 07 31.
Artigo em Inglês | MEDLINE | ID: mdl-31367972

RESUMO

Pheochromocytomas and paragangliomas (PCC/PGL) are neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia which often over-secrete catecholamines leading to cardiovascular morbidity and even mortality. These unique tumors have the highest heritability of all solid tumor types with up to 35-40% of patients with PCC/PGL having a germline predisposition. PURPOSE OF REVIEW: To review the germline susceptibility genes and clinical syndromes associated with PCC/PGL. RECENT FINDINGS: There are over 12 PCC/PGL susceptibility genes identified in a wide range of pathways. Each gene is associated with a clinical syndrome with varying penetrance for both primary and metastatic PCC/PGL and often includes increased risk for additional tumors besides PCC/PGL. Patients with sporadic or hereditary PCC/PGL should be monitored for life given the risk of multiple primary tumors, recurrence, and metastatic disease. All patients with PCC/PGL should be referred for consideration for clinical genetic testing given the high heritability of disease.


Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Paraganglioma/genética , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Doenças Cardiovasculares/etiologia , Predisposição Genética para Doença , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Programas de Rastreamento , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Paraganglioma/complicações , Paraganglioma/diagnóstico , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Síndrome , Doença de von Hippel-Lindau/diagnóstico , Doença de von Hippel-Lindau/genética
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