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1.
BMJ Case Rep ; 17(7)2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38969389

RESUMO

Pheochromocytomas are rare tumours originating in chromaffin cells, representing 0.1%-1% of all secondary hypertension cases. The majority are benign and unilateral, characterised by the production of catecholamines and other neuropeptides. Mainly located in the adrenal gland, they are more frequent between the third and fifth decades of life. Iodine-131 metaiodobenzylguanidine (131I-MIBG), a radiopharmaceutical agent used for scintigraphic localisation of pheochromocytomas, has been employed to treat malignant pheochromocytomas since 1983 in a few specialised centres around the world. We reviewed our clinical experience in one such case of a young lady who presented with history of abdominal pain, headache and lower back pain. On evaluation, ultrasonography revealed a right adrenal mass and elevated urine vanillylmandelic acid levels. Following surgical resection and histopathological confirmation of pheochromocytoma, MIBG scintigraphy revealed osseous metastases and hence, she underwent 131I-MIBG therapy.


Assuntos
3-Iodobenzilguanidina , Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Compostos Radiofarmacêuticos , Humanos , 3-Iodobenzilguanidina/uso terapêutico , Feminino , Neoplasias das Glândulas Suprarrenais/secundário , Compostos Radiofarmacêuticos/uso terapêutico , Adulto , Intervalo Livre de Doença , Radioisótopos do Iodo/uso terapêutico , Neoplasias Ósseas/secundário , Neoplasias Ósseas/radioterapia , Cintilografia
2.
Langenbecks Arch Surg ; 409(1): 212, 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38985178

RESUMO

PURPOSE: This study aimed to determine the effect of adrenal mass functionality and different hormone subtypes synthesized by the adrenal masses on laparoscopic adrenalectomy (LA) outcomes. MATERIALS AND METHODS: The study included 298 patients, 154 of whom were diagnosed with nonfunctional masses. In the functional group, 33, 62, and 59 patients had Conn syndrome, Cushing's syndrome, and pheochromocytoma, respectively. The variables were analyzed between the functional and nonfunctional groups and then compared among functional masses through subgroup analysis. RESULTS: The incidence of diabetes mellitus, hypertension, and obesity, blood loss, and length of hospital stay (LOH) were significantly higher in the functional group than in the nonfunctional group. In the subgroup analysis, patients with pheochromocytoma had significantly lower body mass index but significantly higher mass size, blood loss, and LOH than the other two groups. A positive correlation was found between mass size and blood loss in patients with pheochromocytoma (p ≤ 0.001, r = 0.761). However, no significant difference in complications was found among the groups. CONCLUSIONS: In this study, patients with functional adrenal masses had higher comorbidity rates and American Society of Anesthesiologists scores. Moreover, blood loss and LOH were longer on patients with functional adrenal masses who underwent LA. Mass size, blood loss, and LOH in patients with pheochromocytoma were significantly longer than those in patients with other functional adrenal masses. Thus, mass functionality did not increase the complications.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Laparoscopia , Feocromocitoma , Humanos , Adrenalectomia/métodos , Adrenalectomia/efeitos adversos , Feminino , Masculino , Laparoscopia/efeitos adversos , Pessoa de Meia-Idade , Neoplasias das Glândulas Suprarrenais/cirurgia , Feocromocitoma/cirurgia , Feocromocitoma/patologia , Adulto , Resultado do Tratamento , Estudos Retrospectivos , Tempo de Internação , Síndrome de Cushing/cirurgia , Hiperaldosteronismo/cirurgia , Idoso , Perda Sanguínea Cirúrgica/estatística & dados numéricos
3.
Int J Mol Sci ; 25(13)2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-39000254

RESUMO

Pheochromocytomas and paragangliomas (PPGLs) are rare neoplasms producing catecholamines that occur as hereditary syndromes in 25-40% of cases. To date, PPGLs are no longer classified as benign and malignant tumors since any lesion could theoretically metastasize, even if it occurs only in a minority of cases (approximately 10-30%). Over the last decades, several attempts were made to develop a scoring system able to predict the risk of aggressive behavior at diagnosis, including the risk of metastases and disease recurrence; unfortunately, none of the available scores is able to accurately predict the risk of aggressive behavior, even including clinical, biochemical, and histopathological features. Thus, life-long follow-up is required in PPGL patients. Some recent studies focusing on genetic and molecular markers (involved in hypoxia regulation, gene transcription, cellular growth, differentiation, signaling pathways, and apoptosis) seem to indicate they are promising prognostic factors, even though their clinical significance needs to be further evaluated. The most involved pathways in PPGLs with aggressive behavior are represented by Krebs cycle alterations caused by succinate dehydrogenase subunits (SDHx), especially when caused by SDHB mutations, and by fumarate hydratase mutations that lead to the activation of hypoxia pathways and DNA hypermethylation, suggesting a common pathway in tumorigenesis. Conversely, PPGLs showing mutations in the kinase cascade (cluster 2) tend to display less aggressive behavior. Finally, establishing pathways of tumorigenesis is also fundamental to developing new drugs targeted to specific pathways and improving the survival of patients with metastatic disease. Unfortunately, the rarity of these tumors and the scarce number of cases enrolled in the available studies represents an obstacle to validating the role of molecular markers as reliable predictors of aggressiveness.


Assuntos
Neoplasias das Glândulas Suprarrenais , Biomarcadores Tumorais , Paraganglioma , Feocromocitoma , Humanos , Feocromocitoma/genética , Feocromocitoma/patologia , Feocromocitoma/metabolismo , Paraganglioma/genética , Paraganglioma/patologia , Paraganglioma/metabolismo , Paraganglioma/diagnóstico , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/metabolismo , Mutação
4.
Int J Mol Sci ; 25(13)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-39000369

RESUMO

Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours arising from chromaffin cells. Pathogenic variants in the gene succinate dehydrogenase subunit B (SDHB) are associated with malignancy and poor prognosis. When metastases arise, limited treatment options are available. The pathomechanism of SDHB-associated PPGL remains largely unknown, and the lack of suitable models hinders therapy development. Germline heterozygous SDHB pathogenic variants predispose to developing PPGLs with a life-long penetrance of around 50%. To mimic the human disease phenotype, we characterised adult heterozygous sdhb mutant zebrafish as a potential model to study SDHB-related PPGLs. Adult sdhb mutant zebrafish did not develop an obvious tumour phenotype and were anatomically and histologically like their wild-type siblings. However, sdhb mutants showed significantly increased succinate levels, a major hallmark of SDHB-related PPGLs. While basal activity was increased during day periods in mutants, mitochondrial complex activity and catecholamine metabolite levels were not significantly different. In conclusion, we characterised an adult in vivo zebrafish model, genetically resembling human carriers. Adult heterozygous sdhb mutants mimicked their human counterparts, showing systemic elevation of succinate levels despite the absence of a tumour phenotype. This model forms a promising basis for developing a full tumour phenotype and gaining knowledge of the pathomechanism behind SDHB-related PPGLs.


Assuntos
Neoplasias das Glândulas Suprarrenais , Modelos Animais de Doenças , Paraganglioma , Feocromocitoma , Succinato Desidrogenase , Peixe-Zebra , Animais , Peixe-Zebra/genética , Feocromocitoma/genética , Feocromocitoma/patologia , Feocromocitoma/metabolismo , Paraganglioma/genética , Paraganglioma/patologia , Paraganglioma/metabolismo , Succinato Desidrogenase/genética , Succinato Desidrogenase/metabolismo , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Humanos , Mutação , Fenótipo
5.
Blood Press ; 33(1): 2355268, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38824681

RESUMO

INTRODUCTION: Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the VHL tumour suppressor gene. In this study, we introduce a novel genetic variant found in 11 family members diagnosed initially with isolated Pheochromocytoma. Subsequent findings revealed its association with VHL syndrome and corresponds to the Type 2 C phenotype. METHODS: The VHL gene was amplified through the utilisation of the polymerase chain reaction (PCR). PCR fragments were sequenced using bidirectional Sanger sequencing, using BigDye™ Terminator v3.1 Cycle Sequencing Kit, running on the 3500 genetic analyser. Results were assembled and analysed Using Software SeqA and chromas pro. RESULTS: A heterozygous in-frame duplication of three nucleotides, specifically ATG, c.377_379dup; p.Asp126dup in exon 2, was identified in all the patients tested within the pedigree. CONCLUSION: In this study, we disclose the identification of a novel genetic variant in a Jordanian family, affecting eleven family members with pheochromocytoma associated with VHL disease. This finding underscores the importance of screening family members and contemplating genetic testing for individuals newly diagnosed with pheochromocytoma and could enhance our comprehension of the potential adverse consequences associated with VHL germline mutations.


Goal: To study a novel gene change in a family with Von Hippel-Lindau (e.g. VHL) syndrome, which increases cancer chances.Participants: 11 family members with Pheochromocytoma, a tumour linked to VHL.Methods:Used PCR to copy the VHL gene.Analysed the gene using Sanger sequencing.Findings:Found a novel gene change in all family members. This change, called an in-frame duplication, affects a protein.It's in a specific part of the gene.Conclusion:Stressing the importance of genetic testing for Pheochromocytoma patients to grasp VHL mutation risks.


Assuntos
Neoplasias das Glândulas Suprarrenais , Linhagem , Fenótipo , Feocromocitoma , Proteína Supressora de Tumor Von Hippel-Lindau , Doença de von Hippel-Lindau , Humanos , Feocromocitoma/genética , Doença de von Hippel-Lindau/genética , Feminino , Masculino , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Adulto , Neoplasias das Glândulas Suprarrenais/genética , Pessoa de Meia-Idade , Variação Genética
6.
BMC Cardiovasc Disord ; 24(1): 325, 2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38926862

RESUMO

BACKGROUND: Hypertension (HT) is one of the most common manifestations in patients with catecholamine-secreting neuroendocrine tumors. Although the cardiovascular manifestations of these tumors have been described, there have been no large-scale investigations of the profile of HT and changes in cardiac structure and function that occur in patients with pheochromocytomas and paragangliomas (PPGL). MATERIALS AND METHODS: In this study, we investigated the prevalence of HT and left ventricular remodeling (LVR) in a cohort of 598 patients who underwent surgery for PPGL at our center between January 2001 and April 2022. Information on demographics, reason for hospitalization, medical history, biochemical parameters, findings on echocardiography, and tumor characteristics were recorded. The LVR index was compared according to whether or not there was a history of HT. RESULTS: The average age was 47.07 ± 15.07 years, and 277 (46.32%) of the patients were male. A history of HT was found in 423 (70.74%) of the 598 patients. Paraganglioma was significantly more common in the group with HT (26.00% vs. 17.71%, P = 0.030) and significantly less likely to be found incidentally during a health check-up in this group (22.93% vs. 59.43%, P < 0.001). Among 365 patients with complete echocardiography data, left ventricular mass index (86.58 ± 26.70 vs. 75.80 ± 17.26, P < 0.001) and relative wall thickness (0.43 ± 0. 08 vs. 0.41 ± 0.06, P = 0.012) were significantly higher in patients with PPGL and a history of HT. The proportions with left ventricular hypertrophy (LVH) (19.40% vs. 8.25%, P = 0.011) and LVR (53.73% vs. 39.18%, P = 0.014) were also higher when there was a history of HT. After adjusting for age, gender, body mass index, alcohol consumption, smoking status, diabetes, stroke, creatinine level, tumor location, and tumor size, a history of HT was significantly correlated with LVH (odds ratio 2.71, 95% confidence interval 1.18-6.19; P = 0.018) and LVR (odds ratio 1.83, 95% confidence interval 1.11-3.03; P = 0.018). CONCLUSION: HT is common in patients with PPGL (70.74% in this cohort). PPGL without a history of HT is more likely to be found incidentally (59.43% in our cohort). HT is associated with LVR in PPGL patients with complete echocardiography data. These patients should be observed carefully for cardiac damage, especially those with a history of HT.


Assuntos
Neoplasias das Glândulas Suprarrenais , Hipertensão , Paraganglioma , Feocromocitoma , Função Ventricular Esquerda , Remodelação Ventricular , Humanos , Feocromocitoma/complicações , Feocromocitoma/epidemiologia , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/cirurgia , Masculino , Feminino , Pessoa de Meia-Idade , Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Adulto , Paraganglioma/epidemiologia , Paraganglioma/complicações , Paraganglioma/diagnóstico por imagem , Hipertensão/epidemiologia , Prevalência , Estudos Retrospectivos , Fatores de Risco , Medição de Risco , Idoso , Pressão Sanguínea
7.
Inn Med (Heidelb) ; 65(7): 632-641, 2024 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-38864873

RESUMO

Adrenal tumors are among the most common tumors in humans. They are most frequently discovered incidentally during abdominal imaging for other reasons or due to clinical symptoms (e.g. Conn's or Cushing's syndrome, pheochromocytoma or androgen excess). Although over 80% of adrenal tumors are benign, in cases of hormone excess, they are associated with significantly increased morbidity. In highly malignant adrenocortical carcinoma (ACC), early diagnosis is of particular prognostic relevance. Therefore, this review presents the diagnostic procedure for what are referred to as adrenal incidentalomas and provide recommendations for the management of ACC and pheochromocytomas/paragangliomas (PPGL). In primary diagnosis, sufficient hormone diagnostics is required for all adrenal tumors, as this is the only way to identify all patients with relevant hormone excess. Imaging has increasingly improved in recent years and allows a reliable assessment of the tumor's malignancy in most cases. Imaging of first choice is unenhanced computed tomography (CT), while magnetic resonance imaging (MRI) and fluorodeoxyglucose-18 positron emission tomography (FDG-PET/CT) are reserved for special situations, as published evidence on these procedures is more limited. The treatment of ACC and PPGL is complex and is carried out on an interdisciplinary basis at specialized centers. In the case of localized disease, surgery is the only curative treatment option. There are now clear recommendations for individualized adjuvant therapy for ACC. In metastatic disease, mitotane with or without platinum-containing chemotherapy is the standard. Other lines of therapy should be discussed with a reference center. Over 35% of PPGL have a germline mutation; therefore, genetic testing should be offered. In metastatic PPGL, an individual decision is required between active surveillance, radionuclide therapy, sunitinib or chemotherapy.


Assuntos
Neoplasias das Glândulas Suprarrenais , Humanos , Neoplasias das Glândulas Suprarrenais/terapia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Feocromocitoma/terapia , Feocromocitoma/diagnóstico
8.
BMJ Case Rep ; 17(6)2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38862185

RESUMO

The following case discusses the surgical considerations for a patient presenting with cardiogenic shock secondary to a phaeochromocytoma crisis with stress cardiomyopathy. The patient underwent an interval laparoscopic adrenalectomy. Pneumoperitoneum insufflation was performed at lower pressures; manipulation of the adrenal tumour was minimised, and the adrenal vein was ligated early. However, as intraoperative blood pressure (BP) remained elevated and rising, further gentle dissection revealed an aberrant inferior phrenic vein draining the adrenal nodule. BP was finally reduced following ligation of the inferior phrenic vein, demonstrating the clinical significance of an unusual dual venous drainage from the adrenal nodule in this patient.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Feocromocitoma , Humanos , Feocromocitoma/cirurgia , Feocromocitoma/complicações , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/complicações , Adrenalectomia/métodos , Cardiomiopatia de Takotsubo , Feminino , Choque Cardiogênico/etiologia , Pessoa de Meia-Idade , Laparoscopia/métodos , Assistência Perioperatória/métodos , Masculino
9.
Sci Rep ; 14(1): 13828, 2024 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-38879654

RESUMO

This study aimed to compare tumor lesion detectability and diagnostic accuracy of whole-body magnetic resonance imaging (WB-MRI) and radioiodine-labeled meta-iodo-benzylguanidine (mIBG) imaging techniques in patients with metastatic pheochromocytoma and paraganglioma (PPGL). This retrospective study included 13 patients had pheochromocytoma and 5 had paraganglioma, who were all suspected of having metastatic tumors. Each patient underwent WB-MRI and 123I-mIBG as a pretreatment screening for 131I-mIBG therapy. Two expert reviewers evaluated WB-MRI, 123I-mIBG images, and post-therapy 131I-mIBG images for the presence of metastatic lesions in the lungs, bones, liver, lymph nodes, and other organs. Diagnostic measures for detecting metastatic lesions, including sensitivity, specificity, accuracy, positive predictive value (PPV), negative predictive value (NPV), and receiver operating characteristics (ROC)-area under the curve (AUC), were calculated for each imaging technique. We analyzed WB-MRI images for detecting metastatic lesions, which demonstrated sensitivity, specificity, accuracy, PPV, NPV, and AUC of 82%, 97%, 90%, 96%, 86%, and 0.92, respectively. These values were 83%, 95%, 89%, 94%, 86%, and 0.90 in 123I-mIBG images and 85%, 92%, 89%, 91%, 87%, and 0.91 in post-therapy 131I-mIBG images, respectively. Our results reveal the comparable diagnostic accuracy of WB-MRI to one of the mIBG images.


Assuntos
3-Iodobenzilguanidina , Neoplasias das Glândulas Suprarrenais , Radioisótopos do Iodo , Imageamento por Ressonância Magnética , Paraganglioma , Feocromocitoma , Imagem Corporal Total , Humanos , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/patologia , Paraganglioma/diagnóstico por imagem , Feminino , Masculino , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Adulto , Imagem Corporal Total/métodos , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/patologia , Estudos Retrospectivos , Idoso , Metástase Neoplásica , Compostos Radiofarmacêuticos , Sensibilidade e Especificidade , Adulto Jovem
10.
Surg Clin North Am ; 104(4): 863-881, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38944505

RESUMO

Pheochromocytomas and paragangliomas are distinctive neuroendocrine tumors which frequently produce excess catecholamines with resultant cardiovascular morbidity. These tumors have a strong genetic component, with up to 40% linked to hereditary pathogenic variants; therefore, germline genetic testing is recommended for all patients. Surgical resection offers the only potential cure in the case of localized disease. Given the potential for catecholaminergic crises, appropriate perioperative management is crucial, and all patients should undergo alpha-adrenergic blockade before resection. Therapeutic options for metastatic disease are limited and include surgical debulking, radiopharmaceutical therapies, and conventional chemotherapy.


Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Humanos , Feocromocitoma/terapia , Feocromocitoma/genética , Feocromocitoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/diagnóstico , Paraganglioma/terapia , Paraganglioma/genética , Paraganglioma/diagnóstico , Adrenalectomia/métodos
11.
Endocr Relat Cancer ; 31(9)2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-38864697

RESUMO

Pheochromocytoma (PCC) and abdominal paraganglioma (aPGL) (together abbreviated PPGL) frequently present with an underlying genetic event in a PPGL driver gene, and additional susceptibility genes are anticipated. Here, we re-analyzed whole-exome sequencing data for PCC patients and identified two patients with rare missense variants in the calcium voltage-gated channel subunit 1H gene (CACNA1H). CACNA1H variants were also found in the clinical setting in PCC patients using targeted sequencing and from analysis of The Cancer Genome Atlas database. In total, CACNA1H variants were found in six PCC cases. Three of these were constitutional, and two are known to have functional consequences on hormone production and gene expression in primary aldosteronism and aldosterone-producing adrenocortical adenoma. In general, PPGL exhibited reduced CACNA1H mRNA expression as compared to normal adrenal. Immunohistochemistry showed strong CACNA1H (CaV3.2) staining in adrenal medulla while PPGL typically had weak or negative staining. Reduced CACNA1H gene expression was especially pronounced in PCC compared to aPGL and in PPGL with cluster 2 kinase signaling phenotype. Furthermore, CACNA1H levels correlated with HIF1A and HIF2A. Moreover, TCGA data revealed a correlation between CACNA1H methylation density and gene expression. Expression of rCacna1h in PC12 cells induced differential protein expression profiles, determined by mass spectrometry, as well as a shift in the membrane potential where maximum calcium currents were observed, as determined by electrophysiology. The findings suggest the involvement of CACNA1H/CaV3.2 in pheochromocytoma development and establish a potential link between the etiology of adrenomedullary and adrenocortical tumor development.


Assuntos
Neoplasias das Glândulas Suprarrenais , Regulação para Baixo , Feocromocitoma , Feocromocitoma/genética , Feocromocitoma/metabolismo , Humanos , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/metabolismo , Feminino , Masculino , Animais , Pessoa de Meia-Idade , Adulto , Ratos , Canais de Cálcio Tipo T/genética , Canais de Cálcio Tipo T/metabolismo , Células PC12
12.
Diagn Pathol ; 19(1): 78, 2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38862977

RESUMO

BACKGROUND: Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent inflammatory rhabdomyoblastic tumor (IRMT), adrenal pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1 (NF1). To our knowledge, this is the first time that this constellation of tumors has been described in the literature. CASE PRESENTATION: A female patient in her late 20s with known NF1 was diagnosed with an inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a short succession. IRMT was found to harbor a near-haploid genome and displayed a typical immunohistochemical profile as well as a focal aberrant p53 expression pattern. CONCLUSIONS: This case report strengthens the theory that defects in the tumor suppressor NF1 play a central role in the pathogenesis of inflammatory rhabdomyoblastic tumors and that IRMT may be part of the spectrum of neurofibromatosis type 1 related tumors.


Assuntos
Neoplasias das Glândulas Suprarrenais , Hamartoma , Neurofibromatose 1 , Feocromocitoma , Humanos , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Feminino , Hamartoma/patologia , Hamartoma/diagnóstico , Feocromocitoma/patologia , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adulto , Imuno-Histoquímica , Pneumopatias/patologia , Pneumopatias/diagnóstico , Neurofibromina 1/genética , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética
14.
J Pak Med Assoc ; 74(5): 998-999, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38783456

RESUMO

Fever is usually thought to be of an infectious or inflammatory etiology. In this brief communication, we explore the multifaceted connections between fever and endocrine dysfunction. Impaired resistance to infection often leads to fever in conditions like diabetes and Cushing's syndrome. Additionally, several endocrine disorders, including hyperthyroidism, subacute thyroiditis, carcinoid syndrome, and pheochromocytoma, can manifest as fever. Furthermore, fever can be an adverse effect of various endocrine treatments, such as bisphosphonates and antithyroid drugs. We refer to these scenarios as 'endocrine fever.' Increased awareness of these clinical associations can aid in prompt diagnosis and management of these conditions.


Assuntos
Doenças do Sistema Endócrino , Febre , Humanos , Febre/etiologia , Doenças do Sistema Endócrino/terapia , Doenças do Sistema Endócrino/diagnóstico , Hipertireoidismo/terapia , Hipertireoidismo/diagnóstico , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/terapia , Feocromocitoma/terapia , Feocromocitoma/diagnóstico , Feocromocitoma/complicações , Neoplasias das Glândulas Suprarrenais/terapia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/complicações , Antitireóideos/uso terapêutico , Antitireóideos/efeitos adversos , Difosfonatos/uso terapêutico , Difosfonatos/efeitos adversos
15.
BMC Cardiovasc Disord ; 24(1): 261, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38769478

RESUMO

BACKGROUND: Pheochromocytoma is rare in pregnant women. It presents as diverse symptoms, including hypertension and sweating. The symptoms of pregnant women with pheochromocytoma and comorbid hypertension often mimic the clinical manifestations of preeclampsia, and these women are often misdiagnosed with preeclampsia. CASE PRESENTATION: In this case, a pregnant woman presented with chest pain as the primary symptom, and a diagnosis of pheochromocytoma was considered after ruling out myocardial ischemia and aortic dissection with the relevant diagnostic tools. This patient then underwent successful surgical resection using a nontraditional management approach, which resulted in a positive clinical outcome. CONCLUSIONS: It is essential to consider pheochromocytoma as a potential cause of chest pain and myocardial infarction-like electrocardiographic changes in pregnant women, even if they do not have a history of hypertension.


Assuntos
Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Complicações Neoplásicas na Gravidez , Humanos , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/cirurgia , Feminino , Gravidez , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Complicações Neoplásicas na Gravidez/diagnóstico , Complicações Neoplásicas na Gravidez/cirurgia , Adulto , Resultado do Tratamento , Dor no Peito/etiologia , Dor no Peito/diagnóstico , Valor Preditivo dos Testes , Adrenalectomia , Eletrocardiografia
16.
PLoS One ; 19(5): e0303623, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38805424

RESUMO

BACKGROUND: Pheochromocytoma, or paraganglioma (PPGL), is a tumor that arises from catecholamine-producing chromaffin cells of the adrenal medulla or paraganglion. Systemic therapy, such as the combination of cyclophosphamide, vincristine, and dacarbazine or therapeutic radiopharmaceuticals such as [131I] meta-iodobenzylguanidine (MIBG), may be administered in cases of locally advanced tumors or distant metastases. However, the current therapies are limited in terms of efficacy and implementation. [211At] meta-astatobenzylguanidine (MABG) is an alpha-emitting radionuclide-labeled ligand that has demonstrated remarkable tumor-reducing effects in preclinical studies, and is expected to have a high therapeutic effect on pheochromocytoma cells. METHODS: We are currently conducting an investigator-initiated first-in-human clinical trial to evaluate the pharmacokinetics, safety, and efficacy of [211At] MABG. Patients with locally unresectable or metastatic PPGL refractory to standard therapy and scintigraphically positive [123I] MIBG aggregation are being recruited, and a 3 + 3 dose escalation design was adopted. The initial dose of [211At] MABG is 0.65 MBq/kg, with a dose escalation in a 1:2:4 ratio in each cohort. Dose-limiting toxicity is observed for 6 weeks after a single bolus dose of [211At] MABG, and the patients are observed for 3 months to explore safety and efficacy profiles. The primary endpoint is dose-limiting toxicity to determine both maximum tolerated and recommended doses. The secondary endpoints include radiopharmacokinetics, urinary radioactive excretion rate, urinary catecholamine response rate, objective response rate, progression free survival, [123I] MIBG scintigraphy on reducing tumor accumulation, and quality of life. TRIALS REGISTRATION: jRCT2021220012 registered on 17 June 2022.


Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Compostos Radiofarmacêuticos , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias das Glândulas Suprarrenais/tratamento farmacológico , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/metabolismo , Guanidinas/farmacocinética , Guanidinas/uso terapêutico , Paraganglioma/tratamento farmacológico , Paraganglioma/patologia , Paraganglioma/diagnóstico por imagem , Paraganglioma/metabolismo , Feocromocitoma/tratamento farmacológico , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/patologia , Feocromocitoma/metabolismo , Compostos Radiofarmacêuticos/farmacocinética , Resultado do Tratamento , Ensaios Clínicos Fase I como Assunto
17.
Sci Rep ; 14(1): 12174, 2024 05 28.
Artigo em Inglês | MEDLINE | ID: mdl-38806567

RESUMO

Robotic adrenalectomy (RA) has gained significant popularity in the management of adrenal gland diseases. We report our experience at a single tertiary institution and evaluate the safety and surgical outcomes of RA. The data of 122 consecutive patients who underwent RA from October 2009 to December 2022 at Korea University Anam Hospital (Seoul, Korea) were reviewed. There were no perioperative complications. Clinicopathological features and surgical outcomes were retrospectively analyzed through complete chart reviews. Noteworthy findings include the influence of sex, tumor size, and body mass index on operation time, with the female and small tumor groups exhibiting shorter operation times (P = 0.018 and P = 0.009, respectively). Pheochromocytoma was identified as a significant independent risk factor for a longer operation time in the multivariate analysis [odds ratio (OR), 3.709; 95% confidence interval (CI), 1.127-12.205; P = 0.031]. A temporal analysis revealed a decreasing trend in mean operation times across consecutive groups, reflecting a learning curve associated with RA adoption. RA is a safe and effective operative technique alternative to laparoscopic adrenalectomy that has favorable surgical outcomes and enhances the convenience of the operation.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Duração da Cirurgia , Procedimentos Cirúrgicos Robóticos , Humanos , Feminino , Adrenalectomia/métodos , Adrenalectomia/efeitos adversos , Masculino , Procedimentos Cirúrgicos Robóticos/métodos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/patologia , Idoso , Feocromocitoma/cirurgia , Feocromocitoma/patologia , Fatores de Risco , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Laparoscopia/métodos , Laparoscopia/efeitos adversos
18.
Kaohsiung J Med Sci ; 40(6): 583-588, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38747189

RESUMO

Pheochromocytoma is a tumor that usually originating from adrenal medullary chromaffin cells and producing one or more catecholamines, can manifest as hereditary or sporadic. While the majority pheochromocytomas are sporadic, hereditary forms are often associated with genetic syndromes such as von Hippel-Lindau, multiple endocrine neoplasia type 2, and neurofibromatosis type 1. This study aims to analyze data from our series of surgically excited pheochromocytoma patients and compare the characteristics between hereditary and sporadic cases. We retrospectively evaluated 33 diagnosed pheochromocytoma patients, documenting clinical features, surgical complications, and tumor characteristics in both hereditary and sporadic cases. Among the patients, 21% (7 individuals) had hereditary pheochromocytoma, while 79% (26 individuals) had sporadic cases. During diagnosis, hereditary pheochromocytoma patients exhibited a significantly lower mean age compared to the sporadic group (26.4 ± 9.9 years vs. 50.4 ± 14.0 years; p < 0.001). The maximum tumor size was also lower in hereditary cases compared to sporadic cases (p = 0.004). Adrenal tumor localization analysis showed that 63.6% were right-sided, 24.2% were left-sided, and 12.1% were bilateral. Laboratory analysis revealed significantly higher urinary norepinephrine levels in hereditary pheochromocytoma patients (p = 0.021). Our findings suggest that hereditary pheochromocytoma cases are characterized by a younger age at diagnosis, smaller tumor size, and a higher prevalence of multiple bilateral adrenal adenomas. We recommend genetic testing for all pheochromocytoma patients, particularly those with early-onset disease and bilateral adrenal tumors.


Assuntos
Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Humanos , Feocromocitoma/genética , Feocromocitoma/cirurgia , Feocromocitoma/patologia , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/patologia , Estudos Retrospectivos , Adolescente , Adulto Jovem , Idoso
19.
Endocr Relat Cancer ; 31(7)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38753300

RESUMO

The age-specific development of the three constituent components of multiple endocrine neoplasia type 2 (MEN 2) is incompletely characterized for many of the >30 causative rearranged during transfection (RET) mutations, which this genetic association study aimed to specify. Included in the study were 683 carriers of heterogeneous RET germline mutations: 53 carriers with 1 highest-risk mutation (codon 918); 240 carriers with 8 different high-risk mutations (codon 634); 176 carriers with 16 different intermediate-risk mutations (codon 609, 611, 618, 620, or 630); and 214 carriers with 6 different low-risk mutations (codon 768, 790, 804, or 891).There was a strong genotype-specific development of MEN 2 constituent components, with distinct age gradients from C cell disease to node negative medullary thyroid cancer (MTC), from node negative to node positive MTC, from node positive MTC to pheochromocytoma, and from pheochromocytoma to primary hyperparathyroidism. Primary hyperparathyroidism was not observed among the 53 MEN 2B patients who carried highest-risk mutations (age range: 0.5-50 years), of whom no more than 12 (23%) and 3 (6%) carriers were older than age 30 years and 35 years, respectively. The age-specific development of MTC differed significantly between the four RET risk categories, whereas the age-specific development of pheochromocytoma differed significantly only between the two strongest RET risk categories. No significant differences were noted in the development of primary hyperparathyroidism. These findings delineate age-specific disease manifestation corridors for the three constituent components of MEN 2 by RET genotype. These corridors are useful for initial risk assessment and organ-specific surveillance of newly identified RET carriers going forward.


Assuntos
Neoplasias das Glândulas Suprarrenais , Genótipo , Neoplasia Endócrina Múltipla Tipo 2a , Feocromocitoma , Proteínas Proto-Oncogênicas c-ret , Neoplasias da Glândula Tireoide , Humanos , Proteínas Proto-Oncogênicas c-ret/genética , Pessoa de Meia-Idade , Adulto , Neoplasia Endócrina Múltipla Tipo 2a/genética , Adolescente , Masculino , Feminino , Neoplasias da Glândula Tireoide/genética , Adulto Jovem , Feocromocitoma/genética , Criança , Idoso , Pré-Escolar , Neoplasias das Glândulas Suprarrenais/genética , Lactente , Mutação em Linhagem Germinativa , Carcinoma Neuroendócrino/genética , Heterozigoto , Hiperparatireoidismo Primário/genética , Neoplasia Endócrina Múltipla Tipo 2b/genética , Idoso de 80 Anos ou mais
20.
Pediatr Blood Cancer ; 71(8): e31074, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38778452

RESUMO

BACKGROUND: Adult- and adolescent-onset neuroblastomas are rare, with no established therapy. In addition, rare pheochromocytomas may harbor neuroblastic components. This study was designed to collect epidemiological, diagnostic and therapeutic data in order to better define the characteristics of malignant peripheral neuroblastic tumors (MPNT) and composite pheochromocytomas (CP) with MPNT. PROCEDURE: Fifty-nine adults and adolescents (aged over 15 years) diagnosed with a peripheral or composite neuroblastic tumor, who were treated in one of 17 institutions between 2000 and 2020, were retrospectively studied. RESULTS: Eighteen patients with neuroblastoma (NB) or ganglioneuroblastoma (GNB) had locoregional disease, and 28 patients had metastatic stage 4 NB. Among the 13 patients with CP, 12 had locoregional disease. Fifty-eight percent of the population were adolescents and young adults under 24 years of age. The probability of 5-year event-free survival (EFS) was 40% (confidence interval: 27%-53%). CONCLUSIONS: Outcomes were better for patients with localized tumor than for patients with metastases. For patients with localized tumor, in terms of survival, surgical treatment was the best therapeutic option. Multimodal treatment with chemotherapy, surgery, radiotherapy, and immunotherapy-based maintenance allowed long-term survival for some patients. Adolescent- and adult-onset neuroblastoma appeared to have specific characteristics associated with poorer outcomes compared to pediatric neuroblastoma. Nevertheless, complete disease control improved survival. The presence of a neuroblastic component in pheochromocytoma should be considered when making therapeutic management decisions. The development of specific tools/resources (Tumor Referral Board, Registry, biology, and trials with new agents or strategies) may help to improve outcomes for patients.


Assuntos
Neuroblastoma , Humanos , Estudos Retrospectivos , Adolescente , Masculino , Feminino , Neuroblastoma/terapia , Neuroblastoma/epidemiologia , Neuroblastoma/patologia , Neuroblastoma/mortalidade , Neuroblastoma/diagnóstico , Adulto , Adulto Jovem , França/epidemiologia , Taxa de Sobrevida , Pessoa de Meia-Idade , Neoplasias das Glândulas Suprarrenais/terapia , Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/mortalidade , Neoplasias das Glândulas Suprarrenais/diagnóstico , Feocromocitoma/terapia , Feocromocitoma/epidemiologia , Feocromocitoma/patologia , Feocromocitoma/mortalidade , Seguimentos , Terapia Combinada , Prognóstico , Idade de Início , Ganglioneuroblastoma/terapia , Ganglioneuroblastoma/patologia , Ganglioneuroblastoma/epidemiologia , Ganglioneuroblastoma/mortalidade , Idoso
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