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1.
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
2.
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
3.
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
4.
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.
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
7.
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
8.
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
10.
Endocr Relat Cancer ; 31(8)2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-38767322

RESUMO

In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a limited number of studies on this subject have been reported, and data on the long-term outcome of metastatic disease are not available on this rare syndrome. We comprehensively reviewed EPAS1-related PPGL and describe an unusual patient who has been living with an EPAS1-related metastatic PPGL for 47 years. The results of this work show that EPAS1 pathogenic variants are rare, more in females and patients without pathogenic variants in other PPGL susceptibility genes. PPGLs are the most common manifestation followed by polycythemia and somatostatinoma. The EPAS1 pathogenic variants are often postzygotic, and the timing of their acquirement during embryonic development seems to correlate with the number and timing of development of the disease manifestations. Although recurrent and multifocal disease is common in EPAS1-related PPGL, distant metastases are uncommon and usually indolent. This is illustrated by a case of a man who was diagnosed at the age of 9 years and is currently 56 years old, alive, and well for 47 years with these metastases. He was found to have a somatic EPAS1 pathogenic variant (c.1592C>A, p.Pro531His) in bilateral pheochomocytoma and a pancreatic NET (somatostatinoma) but not in genomic DNA isolated from peripheral leukocytes. This and previous reports suggest that distant metastases are uncommon and less aggressive in EPAS1-related PPGLs compared to those found in other hereditary PPGLs.


Assuntos
Neoplasias das Glândulas Suprarrenais , Fatores de Transcrição Hélice-Alça-Hélice Básicos , Paraganglioma , Feocromocitoma , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Paraganglioma/genética , Paraganglioma/patologia , Feocromocitoma/genética , Feocromocitoma/patologia
11.
Ann Cardiol Angeiol (Paris) ; 73(3): 101768, 2024 Jun.
Artigo em Francês | MEDLINE | ID: mdl-38788259

RESUMO

Pheochromocytoma is a rare neuroendocrine tumor characterized by overproduction of catecholamines. The overproduction of catecholamines leads to cardiac remodeling which manifests in several forms ranging from Takotsubo to dilated cardiomyopathy. Studies suggest that pheochromocytoma-induced cardiomyopathy can take various forms depending on the duration of catecholamine exposure. Myocarditis is a fairly rare presentation of cardiac manifestations of pheochromocytoma which are mainly dominated by Takotsubo and dilated cardiomyopathies. We report a rare case of recurrent myocarditis in a young 37-year-old patient revealing the diagnosis of adrenal pheochromocytoma. Through this case and through a review of the literature we will take stock of the epidemiology of cardiac involvement in pheochromocytoma, mainly cardiomyopathies, and we will take stock of the value of diagnosis and early management in improving the prognosis of patients.


Assuntos
Neoplasias das Glândulas Suprarrenais , Miocardite , Feocromocitoma , Recidiva , Humanos , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Miocardite/etiologia , Miocardite/diagnóstico , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adulto , Masculino , Feminino
12.
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
13.
Am J Surg Pathol ; 48(7): 855-865, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38712603

RESUMO

Currently, 5 scoring systems have been proposed in the literature for predicting metastatic risk in pheochromocytoma and paraganglioma (PPGL): Pheochromocytoma of the Adrenal Gland Scaled Score (PASS), Grading System for Adrenal Pheochromocytoma and Paraganglioma (GAPP), Composite Pheochromocytoma/paraganglioma Prognostic Score (COPPS), Age, Size, Extra-adrenal location, Secretion type (ASES) score, and Size, Genetic, Age, and PASS (SGAP) model. To validate and evaluate these 5 scoring systems, we conducted a retrospective review of cases diagnosed as PPGL at the Department of Pathology, West China Hospital of Sichuan University, between January 2012 and December 2019. A total of 185 PPGL cases were included, comprising 35 cases with metastasis and 150 cases remained metastasis-free for over 8 years after surgery. The criteria of the 5 scoring systems were used for scoring and risk classification. The predictive performance of the 5 scoring systems was validated, compared, and evaluated using concordance index (C-index) and decision curve analysis (DCA). The C-indices for PASS, GAPP, and SGAP were 0.600, 0.547, and 0.547, respectively, indicating low discriminative ability. In contrast, COPPS and ASES had C-indices of 0.740 and 0.706, respectively, indicating better discriminative performance. DCA also showed that the predictive capability of COPPS was superior to that of ASES, with both outperformed PASS, while PASS had better predictive ability than GAPP and SGAP. Our analysis indicated that pathology-based scoring systems cannot accurately predict metastatic risk of PPGL. Establishing a precise prediction system requires integrating clinical, pathologic, and molecular information, using a scientific methodology for predictive factor selection and weight assessment.


Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Valor Preditivo dos Testes , Humanos , Neoplasias das Glândulas Suprarrenais/patologia , Feocromocitoma/patologia , Feocromocitoma/diagnóstico , Feminino , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto , Medição de Risco , Paraganglioma/patologia , Paraganglioma/diagnóstico , Fatores de Risco , Idoso , Técnicas de Apoio para a Decisão , Reprodutibilidade dos Testes , Adulto Jovem , Adolescente , Gradação de Tumores
14.
J Zhejiang Univ Sci B ; 25(5): 410-421, 2024 Mar 12.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-38725340

RESUMO

Pheochromocytomas and paragangliomas (PPGLs) cause symptoms by altering the circulation levels of catecholamines and peptide hormones. Currently, the diagnosis of PPGLs relies on diagnostic imaging and the detection of catecholamines. In this study, we used ultra-performance liquid chromatography (UPLC)/quadrupole time-of-flight mass spectrometry (Q-TOF MS) analysis to identify and measure the perioperative differential metabolites in the plasma of adrenal pheochromocytoma patients. We identified differentially expressed genes by comparing the transcriptomic data of pheochromocytoma with the normal adrenal medulla. Through conducting two steps of metabolomics analysis, we identified 111 differential metabolites between the healthy group and the patient group, among which 53 metabolites were validated. By integrating the information of differential metabolites and differentially expressed genes, we inferred that the cysteine-methionine, pyrimidine, and tyrosine metabolism pathways were the three main metabolic pathways altered by the neoplasm. The analysis of transcription levels revealed that the tyrosine and cysteine-methionine metabolism pathways were downregulated in pheochromocytoma, whereas the pyrimidine pathway showed no significant difference. Finally, we developed an optimized diagnostic model of two metabolites, L-dihydroorotic acid and vanylglycol. Our results for these metabolites suggest that they may serve as potential clinical biomarkers and can be used to supplement and improve the diagnosis of pheochromocytoma.


Assuntos
Neoplasias das Glândulas Suprarrenais , Cisteína , Metionina , Feocromocitoma , Pirimidinas , Tirosina , Feocromocitoma/metabolismo , Feocromocitoma/sangue , Humanos , Neoplasias das Glândulas Suprarrenais/metabolismo , Neoplasias das Glândulas Suprarrenais/sangue , Pirimidinas/metabolismo , Metionina/metabolismo , Tirosina/metabolismo , Tirosina/sangue , Cisteína/metabolismo , Masculino , Metabolômica/métodos , Feminino , Pessoa de Meia-Idade , Adulto , Redes e Vias Metabólicas
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.
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
17.
Pan Afr Med J ; 47: 88, 2024.
Artigo em Francês | MEDLINE | ID: mdl-38737225

RESUMO

Ectopic ACTH-secreting pheochromocytoma is a very rare cause of Cushing´s syndrome, posing diagnostic and therapeutic challenges. We here report the case of a female patient with suspected severe Cushing´s syndrome associated with melanoderma, arterial hypertension resistant to triple therapy and unbalanced diabetes treated with insulin therapy. Biologically, urinary ethoxylated, 24-hour urinary free cortisol and ACTH were very high. Imaging showed a 3.5 cm left adrenal mass. The patient underwent left adrenalectomy after medical preparation, with good clinico-biological outcome. Anatomopathological examination confirmed the diagnosis of pheochromocytoma. This case study highlights the importance of measuring methoxylated derivatives in any patient with ACTH-dependent Cushing´s syndrome associated with an adrenal mass. The aim is to ensure early treatment and avoid life-threatening complications.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Hormônio Adrenocorticotrópico , Síndrome de Cushing , Feocromocitoma , Humanos , Feocromocitoma/diagnóstico , Feocromocitoma/metabolismo , Feocromocitoma/complicações , Feminino , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/metabolismo , Neoplasias das Glândulas Suprarrenais/complicações , Síndrome de Cushing/etiologia , Síndrome de Cushing/diagnóstico , Adrenalectomia/métodos , Hormônio Adrenocorticotrópico/metabolismo , Hidrocortisona/metabolismo , Hipertensão/etiologia , Pessoa de Meia-Idade , Adulto
18.
Abdom Radiol (NY) ; 49(5): 1569-1583, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38587628

RESUMO

OBJECTIVES: The purpose of this study was to explore and verify the value of various machine learning models in preoperative risk stratification of pheochromocytoma. METHODS: A total of 155 patients diagnosed with pheochromocytoma through surgical pathology were included in this research (training cohort: n = 105; test cohort: n = 50); the risk stratification scoring system classified a PASS score of < 4 as low risk and a PASS score of ≥ 4 as high risk. From CT images captured during the non-enhanced, arterial, and portal venous phase, radiomic features were extracted. After reducing dimensions and selecting features, Logistic Regression (LR), Extra Trees, and K-Nearest Neighbor (KNN) were utilized to construct the radiomics models. By adopting ROC curve analysis, the optimal radiomics model was selected. Univariate and multivariate logistic regression analyses of clinical radiological features were used to determine the variables and establish a clinical model. The integration of radiomics and clinical features resulted in the creation of a combined model. ROC curve analysis was used to evaluate the performance of the model, while decision curve analysis (DCA) was employed to assess its clinical value. RESULTS: 3591 radiomics features were extracted from the region of interest in unenhanced and dual-phase (arterial and portal venous phase) CT images. 13 radiomics features were deemed to be valuable. The LR model demonstrated the highest prediction efficiency and robustness among the tested radiomics models, with an AUC of 0.877 in the training cohort and 0.857 in the test cohort. Ultimately, the composite of clinical features was utilized to formulate the clinical model. The combined model demonstrated the best discriminative ability (AUC, training cohort: 0.887; test cohort: 0.874). The DCA of the combined model showed the best clinical efficacy. CONCLUSION: The combined model integrating radiomics and clinical features had an outstanding performance in differentiating the risk of pheochromocytoma and could offer a non-intrusive and effective approach for making clinical decisions.


Assuntos
Neoplasias das Glândulas Suprarrenais , Aprendizado de Máquina , Feocromocitoma , Tomografia Computadorizada por Raios X , Humanos , Feocromocitoma/diagnóstico por imagem , Feminino , Masculino , Tomografia Computadorizada por Raios X/métodos , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Pessoa de Meia-Idade , Adulto , Medição de Risco , Estudos Retrospectivos , Idoso , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Radiômica
19.
Front Endocrinol (Lausanne) ; 15: 1336128, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38650714

RESUMO

Purpose: Surgery is the only way to cure pheochromocytoma; however, postoperative hemodynamic instability is one of the main causes of serious complications and even death. This study's findings provide some guidance for improved clinical management. Patients and methods: This study was to investigate the factors leading to postoperative hemodynamic instability in the postoperative pathology indicated pheochromocytoma from May 2016 to May 2022. They were divided into two groups according to whether vasoactive drugs were used for a median number of days or more postoperatively. The factors affecting the postoperative hemodynamics in the perioperative period (preoperative, intraoperative, and postoperative) were then evaluated. Results: The median number of days requiring vasoactive drug support postoperatively was three in 234 patients, while 118 (50.4%) patients required vasoactive drug support for three days or more postoperatively. The results of the multivariate analysis indicated more preoperative colloid use (odds ratio [OR]=1.834, confidence interval [CI]:1.265-2.659, P=0.001), intraoperative use of vasoactive drug (OR=4.174, CI:1.882-9.258, P<0.001), and more postoperative crystalloid solution input per unit of body weight per day (ml/kg/d) (OR=1.087, CI:1.062-1.112, P<0.001) were risk factors for predicting postoperative hemodynamic instability. The optimal cutoff point of postoperative crystalloid use were 42.37 ml/kg/d. Conclusion: Hemodynamic instability is a key issue for consideration in the perioperative period of pheochromocytoma. The amount of preoperative colloid use, the need for intraoperative vasoactive drugs, and postoperative crystalloid solution are risk factors for predicting postoperative hemodynamic instability (registration number: ChiCT2300071166).


Assuntos
Neoplasias das Glândulas Suprarrenais , Hemodinâmica , Feocromocitoma , Complicações Pós-Operatórias , Feocromocitoma/cirurgia , Feocromocitoma/fisiopatologia , Humanos , Feminino , Masculino , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/fisiopatologia , Hemodinâmica/fisiologia , Pessoa de Meia-Idade , Adulto , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/epidemiologia , Estudos de Coortes , Adrenalectomia/efeitos adversos , Estudos Retrospectivos , Fatores de Risco , Idoso , Vasoconstritores/uso terapêutico , Soluções Cristaloides/administração & dosagem
20.
BMJ Case Rep ; 17(4)2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38670572

RESUMO

Pheochromocytoma is a chromaffin cell-derived adrenal medullary tumour and usually presents with paroxysms of hypertension, palpitations, sweating and headache due to excessive catecholamine release. These tumours can also secrete a variety of bioactive neuropeptides and hormones other than catecholamines, resulting in unusual clinical manifestations. We report a female in her mid-30s who presented with fever, anaemia, thrombocytosis and markedly elevated inflammatory markers. The fever profile, including cultures, was negative. Contrast-enhanced CT of abdomen showed a large solid-cystic right adrenal lesion with elevated plasma-free normetanephrine levels suggestive of pheochromocytoma. The fever persisted despite empirical antibiotics and antipyretics. Interleukin-6 (IL-6) levels were elevated (41.2 pg/mL (3-4 pg/mL)). She was initiated on naproxen (NPX) at a dose of 250 mg two times per day. The patient responded to NPX, and after stabilisation, she underwent an adrenalectomy. There was a complete resolution of fever with normalisation of IL-6 levels postoperatively.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Interleucina-6 , Feocromocitoma , Humanos , Feocromocitoma/complicações , Feocromocitoma/cirurgia , Feocromocitoma/sangue , Feminino , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/sangue , Interleucina-6/sangue , Adulto , Naproxeno/uso terapêutico , Febre/etiologia , Anti-Inflamatórios não Esteroides/uso terapêutico , Anti-Inflamatórios não Esteroides/administração & dosagem , Tomografia Computadorizada por Raios X
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