Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 24.748
Filtrar
1.
Zhonghua Yi Xue Za Zhi ; 104(28): 2613-2618, 2024 Jul 23.
Artigo em Chinês | MEDLINE | ID: mdl-39019817

RESUMO

Objective: To explore the correlation between clinical characteristics and pathological features in patients with pheochromocytoma/paraganglioma (PPGLs). Methods: A case series study. A retrospective analysis was conducted on patients with single and primary PPGLs after postoperative pathological diagnosis who were admitted to Peking Union Medical College Hospital between January 2019 and December 2022. The patients were divided into the Ki-67<3% group and the Ki-67≥3% group with Ki-67 proliferation index of 3% as the threshold. The relationship between clinical and pathological characteristics of PPGLs was analyzed. Results: A total of 399 PPGLs patients were included, with 177 males and 222 females, aged [M(Q1, Q3)] 45.0(35.5, 53.0) years. Among them, 226 (56.6%) cases originated from the adrenal gland, while 104 cases (26.1%) from the retroperitoneum. 20.9% (27/129) of the patients were found to harbor germline mutations of susceptibility genes, with SDHB mutations being the most common (10.1%, 13/129). The Ki-67 staining was performed on 302 cases, with a Ki-67 proliferation index [M(Q1, Q3)] of 2.0% (1.0%, 3.0%). There were 194 cases in Ki-67<3% group and 108 cases in Ki-67≥3% group. Compared with the patients in Ki-67<3% group, the age of onset in Ki-67≥3% group was younger (P=0.029). Compared with the patients with paragangliomas without SDHB or Cluster 1A-related gene mutations, positive 131I-meta-iodobenzylguanidine (131I-MIBG) imaging or negative O-6-methylguanine-DNA methyltransferase (MGMT) immunohistochemistry staining, those with SDHB or Cluster 1A-related gene mutations, negative 131I-MIBG imaging or positive MGMT immunohistochemistry staining had a higher Ki-67 index (all P<0.05). Compared with adrenal pheochromocytoma, retroperitoneal paragangliomas had a higher proportion of SDHB mutations and a higher proportion of normetanephrine (NMN) secretory types (all P<0.05). Compared with adrenal pheochromocytoma, the maximum diameter of head and neck paraganglioma tumors was smaller [3.0 (1.9, 3.8) cm vs 4.7 (3.4, 6.4) cm, P<0.001] and the proportion of Ki-67≥3% was higher (61.3% vs 33.8%, P=0.007). Conclusions: PPGLs patients with earlier onset age, SDHB or Cluster 1A-related gene mutations, negative 131I-MIBG imaging, or positive MGMT immunohistochemistry staining tend to have a higher Ki-67 index. Head and neck tumors, though smaller, exhibit a higher proliferation potential.


Assuntos
Neoplasias das Glândulas Suprarrenais , Antígeno Ki-67 , Paraganglioma , Feocromocitoma , Humanos , Feocromocitoma/patologia , Feocromocitoma/genética , Masculino , Feminino , Adulto , Estudos Retrospectivos , Pessoa de Meia-Idade , Paraganglioma/patologia , Paraganglioma/genética , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/genética , Antígeno Ki-67/metabolismo , Mutação em Linhagem Germinativa , Succinato Desidrogenase/genética
2.
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 , Humanos , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Mutação , Paraganglioma/genética , Paraganglioma/patologia , Paraganglioma/metabolismo , Fenótipo , Feocromocitoma/genética , Feocromocitoma/patologia , Feocromocitoma/metabolismo , Succinato Desidrogenase/genética , Succinato Desidrogenase/metabolismo , Peixe-Zebra/genética
3.
Front Endocrinol (Lausanne) ; 15: 1399930, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38948516

RESUMO

Ectopic ACTH syndrome (EAS) remains one of the most demanding diagnostic and therapeutic challenges for endocrinologists. Thymic neuroendocrine tumors account for 5%-10% of all EAS cases. We report a unique case of a 31-year-old woman with severe EAS caused by primary metastatic combined large-cell neuroendocrine carcinoma and atypical carcinoid of the thymus. The patient presented with severe hypercortisolemia, which was successfully controlled with continuous etomidate infusion. Complex imaging initially failed to detect thymic lesion; however, it revealed a large, inhomogeneous, metabolically active left adrenal mass infiltrating the diaphragm, suspected of primary disease origin. The patient underwent unilateral adrenalectomy, which resulted in hypercortisolemia resolve. The pathology report showed an adenoma with adrenal infarction and necrosis. The thymic tumor was eventually revealed a few weeks later on follow-up imaging studies. Due to local invasion and rapid progression, only partial resection of the thymic tumor was possible, and the patient was started on radio- and chemotherapy.


Assuntos
Neoplasias das Glândulas Suprarrenais , Carcinoma Neuroendócrino , Síndrome de Cushing , Neoplasias do Timo , Humanos , Feminino , Adulto , Neoplasias do Timo/complicações , Neoplasias do Timo/patologia , Neoplasias do Timo/cirurgia , Síndrome de Cushing/etiologia , Síndrome de Cushing/patologia , Carcinoma Neuroendócrino/patologia , Carcinoma Neuroendócrino/secundário , Carcinoma Neuroendócrino/complicações , Carcinoma Neuroendócrino/cirurgia , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/secundário , Neoplasias das Glândulas Suprarrenais/patologia , Síndrome de ACTH Ectópico/diagnóstico , Síndrome de ACTH Ectópico/patologia , Síndrome de ACTH Ectópico/etiologia , Adrenalectomia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/complicações
5.
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
7.
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
9.
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
10.
BMJ Case Rep ; 17(7)2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38969390

RESUMO

In this case report, we present a man in his 60s who presented with an incidentally discovered right adrenal mass, which turned out to be an adrenal schwannoma. This is a very rare tumour that originates from Schwann cells and involves the peripheral nerves. The tumour was removed by open adrenalectomy, and this 15-cm adrenal schwannoma is one of the largest reported in the literature, with none >16 cm having ever been reported. This case highlights the importance of keeping an open mind about the cause of an incidentally discovered adrenal mass, which is an increasingly common way for adrenal tumours to present given the increased access to cross-sectional imaging. As well as presenting the case and the pathological basis behind adrenal schwannomas, we include a review of the literature and a general discussion about incidentally discovered adrenal masses.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Neurilemoma , Humanos , Neurilemoma/cirurgia , Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , Masculino , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adrenalectomia/métodos , Pessoa de Meia-Idade , Achados Incidentais , Tomografia Computadorizada por Raios X
11.
Am J Case Rep ; 25: e943826, 2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38965761

RESUMO

BACKGROUND Hemangiomas of the adrenal gland are rare benign non-functional tumors arising from the gland's vascular endothelium. Adrenal hemangiomas are rare in clinical settings, often discovered incidentally during an unrelated diagnostic investigation. CASE REPORT A 39-year-old man presented with a heterogeneous, enhancing 4.56×4.24×3.9-cm mass originating from the right adrenal gland's lateral limb, discovered incidentally on computed tomography (CT) to investigate renal colic. He was routinely followed up for 2 years with serial CT scans; the mass exhibited considerable growth compared with baseline, with a relatively stable appearance with hyperdense soft tissue component, fat, and foci of calcification. Dexamethasone suppression test demonstrated suppressed cortisol response, indicating a non-functional mass. Therefore, laparoscopic right adrenalectomy was performed, owing to the benign nature of the preoperative diagnosis of myelolipoma and mass size. The patient experienced an uneventful recovery, with no perioperative complications. The resected mass was 5×4×4 cm in size and weighed 30 g. Histopathology confirmed adrenal hemangioma. Serial sectioning revealed an encapsulated lesion with heterogeneous solid and cystic surfaces. Light microscopy examination showed dilated and congested vascular channels lined by flattened endothelium. Focal mature adipose tissue was seen. CONCLUSIONS The infrequent occurrence of adrenal hemangiomas and their nonspecific clinical and radiological presentation results in a considerable diagnostic challenge and, often, misdiagnosis. Surgical resection is usually necessary to exclude malignant disease, alleviate pressure-related symptoms, and decrease risk of retroperitoneum hemorrhage. These lesions are associated with a good prognosis. One limitation of this report is the lack of preoperative adrenal magnetic resonance imaging of the incidental adrenal mass.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Hemangioma , Achados Incidentais , Cólica Renal , Humanos , Masculino , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Adulto , Hemangioma/diagnóstico , Hemangioma/diagnóstico por imagem , Cólica Renal/etiologia , Tomografia Computadorizada por Raios X
12.
BMC Endocr Disord ; 24(1): 103, 2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38977992

RESUMO

BACKGROUND: Congenital adrenal hyperplasia (CAH) encompassed a bunch of autosomal recessive disorders characterized by impaired cortisol levels due to an enzymatic deficiency in steroid synthesis. In adult male patients with CAH, a frequent complication related to poor disease control is the development of ectopic adrenocortical tissue in the testes, named testicular adrenal rest tumors (TART). Conversely, ovarian adrenal rest tumors (OART) in females are extremely rare and adrenal rests in sites other than gonads are so uncommon to have been described only few times in literature. CASE PRESENTATION: We report a case of a male patient with untreated CAH and oncologic history of pleomorphic sarcoma who presented with massive bilateral adrenal enlargement and adrenal rest tumors in peri-lumbar and peri-cecal sites, which mimicked metastasis from sarcoma. CONCLUSIONS: The development of massive adrenal enlargement and ectopic adrenal rest tumors in sites other than gonads, even if very uncommon, should be suspected in patients with CAH and prolonged periods of undertreatment.


Assuntos
Hiperplasia Suprarrenal Congênita , Tumor de Resto Suprarrenal , Humanos , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/patologia , Hiperplasia Suprarrenal Congênita/diagnóstico , Masculino , Tumor de Resto Suprarrenal/patologia , Tumor de Resto Suprarrenal/diagnóstico , Tumor de Resto Suprarrenal/etiologia , Diagnóstico Diferencial , Sarcoma/diagnóstico , Sarcoma/patologia , Adulto , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/secundário , Prognóstico
13.
BMC Med Imaging ; 24(1): 175, 2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-39026152

RESUMO

BACKGROUND: It is extremely essential to accurately differentiate pheochromocytoma from Adrenal incidentalomas (AIs) before operation, especially biochemical tests were inconclusive. We aimed to evaluate the value of magnetic resonance imaging (MRI) features to differentiate pheochromocytomas among adrenal tumors, among which the consequences of biochemical screening tests of catecholamines and/or catecholamine metabolites are positive. METHODS: With institutional review board approval, this study retrospectively compared 35 pheochromocytoma (PHEO) patients with 27 non-pheochromocytoma(non-PHEO) patients between January 2022 to September 2023, among which the consequences of biochemical screening tests of catecholamines and/or catecholamine metabolites are positive. T test was used for the independent continuous data and the chi-square test was used for categorical variables. Univariate and multivariate logistic regression were applied to find the independent variate of the features to differentiate PHEO from non-PHEO and ROC analysis was applied to evaluate the diagnostic value of the independent variate. RESULTS: We found that the T2-weighted (T2W) signal intensity in patients with pheochromocytoma was higher than other adrenal tumors, with greatly significant (p < 0.001). T2W signal intensity ratio (T2W nodule-to-muscle SI ratio) was an independent risk factor for the differential diagnosis of adrenal PHEOs from non-PHEOs. This feature alone had 91.4% sensitivity and 81.5% specificity to rule out pheochromocytoma based on optimal threshold, with an area under the receiver operating characteristics curve (AUC­ROC) of 0.910(95% C I: 0.833-0.987). CONCLUSION: Our study confirms that T2W signal intensity ratio can differentiate PHEO from non-PHEO, among which the consequences of biochemical screening tests of catecholamines and/or catecholamine metabolites are positive.


Assuntos
Neoplasias das Glândulas Suprarrenais , Imageamento por Ressonância Magnética , Feocromocitoma , Humanos , Feocromocitoma/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Feminino , Masculino , Pessoa de Meia-Idade , Diagnóstico Diferencial , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Adulto , Catecolaminas/metabolismo , Idoso , Curva ROC , Sensibilidade e Especificidade
14.
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
15.
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
18.
Surg Clin North Am ; 104(4): 837-849, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38944503

RESUMO

Adrenal incidentalomas have increased due to advanced and more sensitive imaging modalities, their increased utilization, and the aging population. Most adrenal incidentalomas are nonfunctional and benign, but a subset of patients has functional and/or malignant tumors. The evaluation of patients with an adrenal incidentaloma involves addressing 2 clinical questions: (1) Is the tumor functional? (2) Is the tumor malignant? A careful history and physical examination focused on signs and symptoms of adrenal functional tumors, biochemical testing, and imaging features are the cornerstone in the evaluation of patients with an adrenal incidentaloma.


Assuntos
Neoplasias das Glândulas Suprarrenais , Humanos , Neoplasias das Glândulas Suprarrenais/diagnóstico , Achados Incidentais , Diagnóstico Diferencial , Tomografia Computadorizada por Raios X/métodos
19.
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
20.
Pediatr Int ; 66(1): e15754, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38924208

RESUMO

BACKGROUND: Recently, reports of endoscopic approaches for neuroblastoma, ganglioneuroblastoma, and ganglioneuroma (peripheral neuroblastic tumor; PNTs) have been increasing. This study aimed to clarify the indications for endoscopic surgery for PNTs. METHODS: Pediatric patients who underwent endoscopic surgery for PNTs at our institution were included in this study. Image-defined risk factors (IDRFs) were analyzed using preoperative computed tomography (CT). RESULTS: Twenty-four patients underwent endoscopic surgery for PNTs. The diagnoses included neuroblastoma (n = 11), ganglioneuroma (n = 10), and ganglioneuroblastoma (n = 3). Regarding the tumor site, there were 18 cases of adrenal tumors, five cases of mediastinal tumors, and one case of retroperitoneal tumors. Image-defined risk factors were positive in eight cases (contacted with a renal vessel, n = 6; compression of principal bronchi, n = 2). Complete resection was accomplished in 21 cases (14 of 16 IDRF-negative cases and seven of eight IDRF-positive cases). All patients survived without recurrence during the follow-up period. CONCLUSIONS: The CT findings of contact with renal vessels and compression of principal bronchi do not seem to be indicators of incomplete resection. An endoscopic approach to PNTs in pediatric patients is feasible with a good prognosis if patients are selected strictly.


Assuntos
Ganglioneuroblastoma , Ganglioneuroma , Neuroblastoma , Tomografia Computadorizada por Raios X , Humanos , Masculino , Feminino , Pré-Escolar , Neuroblastoma/cirurgia , Neuroblastoma/diagnóstico , Criança , Lactente , Ganglioneuroma/cirurgia , Ganglioneuroma/diagnóstico , Ganglioneuroblastoma/cirurgia , Ganglioneuroblastoma/diagnóstico , Estudos Retrospectivos , Endoscopia/métodos , Resultado do Tratamento , Adolescente , Seguimentos , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias do Mediastino/cirurgia , Neoplasias do Mediastino/diagnóstico
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA