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JPMA. the Journal of the Pakistan... May 2024Fever is usually thought to be of an infectious or inflammatory etiology. In this brief communication, we explore the multifaceted connections between fever and... (Review)
Review
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.
Topics: Humans; Fever; Endocrine System Diseases; Hyperthyroidism; Cushing Syndrome; Pheochromocytoma; Adrenal Gland Neoplasms; Antithyroid Agents; Diphosphonates
PubMed: 38783456
DOI: 10.47391/JPMA.24-36 -
Therapeutic Advances in Urology 2024Bladder paraganglioma is a rare neuroendocrine neoplasm, either functional or non-functional, arising from the urinary bladder. Functional variants present with...
Bladder paraganglioma is a rare neuroendocrine neoplasm, either functional or non-functional, arising from the urinary bladder. Functional variants present with catecholamine-related symptoms, while non-functional variants pose diagnostic challenges, mimicking urothelial carcinoma. Misdiagnosis risks underscore the importance of accurate identification for appropriate patient management. In this case, a 52-year-old man, diagnosed incidentally with hypertension and reported occasional post-micturition tachycardia, underwent abdominal ultrasound for known hepatic cyst follow-up, revealing an oval hypoechoic bladder mass. Initial consideration of bladder urothelial carcinoma prompted further investigation with contrast-enhanced CT scan and cystoscopy that confirmed extrinsic mass nature, and subsequent robotic-assisted partial cystectomy was performed. Histologically, the removed mass exhibited characteristic features of bladder paraganglioma. Postoperative recovery was uneventful, with resolution of post-micturition tachycardia at 1 month. Follow-up includes endocrinological evaluation and a 6-month CT scan. In conclusion, bladder paraganglioma should be considered in para-vesical mass differentials. This case highlights the importance of meticulous history collection, even in asymptomatic patients, the need for a multidisciplinary approach for accurate diagnosis and management of this rare condition, and the robotic approach as a viable option.
PubMed: 38779495
DOI: 10.1177/17562872241249603 -
Pediatric Blood & Cancer Aug 2024Adult- and adolescent-onset neuroblastomas are rare, with no established therapy. In addition, rare pheochromocytomas may harbor neuroblastic components. This study was... (Observational Study)
Observational Study
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.
Topics: Humans; Retrospective Studies; Adolescent; Male; Female; Neuroblastoma; Adult; Young Adult; France; Survival Rate; Middle Aged; Adrenal Gland Neoplasms; Pheochromocytoma; Follow-Up Studies; Combined Modality Therapy; Prognosis; Age of Onset; Ganglioneuroblastoma; Aged
PubMed: 38778452
DOI: 10.1002/pbc.31074 -
Surgical Case Reports May 2024Mediastinal paragangliomas are rare. Their dangerousness may unfold during surgery, especially if hormonal activity was previously unknown. We report our experience with...
BACKGROUND
Mediastinal paragangliomas are rare. Their dangerousness may unfold during surgery, especially if hormonal activity was previously unknown. We report our experience with this case in context to the incidence and localization of atypically located mediastinal paragangliomas in the literature.
CASE PRESENTATION
A 69-year-old female patient who was scheduled for thoracoscopic resection due to a posterior mediastinal tumor that had been progressing in size for several years and increasing symptoms. The induction of anesthesia, the ventilation of the lungs and the gas exchange after lung separation was uneventful. After initially stable circulatory conditions, there was a sudden increase in blood pressure up to 300/130 mmHg and tachycardia up to 130/min. This hypertensive phase was difficult to influence and required a rapid and consistent use of antihypertensive medication to bring down the blood pressure to reasonable values. The patient stabilized after tumor resection. The postoperative course was unremarkable. During the intraoperative blood pressure crisis, blood was drawn for analysis. These samples showed elevated concentrations of normetanephrine and metanephrine. The tumor subsequently presented as a catecholamine-secreting paraganglioma.
CONCLUSION
In order to avoid life-threatening blood pressure crises, hormone activity should be ruled out preoperatively in the case of mediastinal tumor, in which a paraganglioma could be considered in the differential diagnosis, especially if there are indications of hypertension in the medical history. Robotic-assisted thoracoscopic resection of the posterior mediastinal tumor was a feasible surgical method, even in the case of unexpected functional paraganglioma.
PubMed: 38772971
DOI: 10.1186/s40792-024-01930-w -
International Journal of General... 2024We explored the expression and prognostic value of GALNT6 and the tumor microenvironment of pan-cancer in humans.
PURPOSE
We explored the expression and prognostic value of GALNT6 and the tumor microenvironment of pan-cancer in humans.
METHODS
In this study, we explored the expression pattern of GALNT6 pan-cancer across multiple databases. The prognostic value of GALNT6 was evaluated using the Kaplan-Meier method. The types and numbers of GALNT6 gene alterations were exhibited using the cBio Cancer Genomics Portal. The correlations between GALNT6 expression and immune infiltration in cancers were analyzed using the database Tumor Immune Estimation Resource 2. We also used the Kyoto Encyclopedia of Genes and Genomes pathway and Gene Ontology analysis to investigate the molecular mechanisms of the GALNT6 gene in tumorigenesis. The expression of GALNT6 was also further verified by qPCR in lung adenocarcinoma tissues.
RESULTS
In general, compared with normal tissue, tumor tissue had a higher expression level of GALNT6. GALNT6 showed a protective effect in colon carcinoma and other cancers; however, a high expression level of GALNT6 was detrimental to survival in bladder cancer and in pheochromocytoma and paraganglioma. Mutation, amplification, and deep deletion were the three main types of GALNT6 mutations in tumors. There was a significant positive correlation between GALNT6 expression and immune infiltration of CD8+ T-cells in skin cutaneous melanoma metastasis, based on most of the algorithms used. Moreover, protein processing- and glycoprotein metabolic-associated functions were involved in the functional mechanisms of GALNT6.
CONCLUSION
This first pan-cancer study offers a relatively comprehensive understanding of the oncogenic roles of GALNT6 across different cancer types.
PubMed: 38770365
DOI: 10.2147/IJGM.S459953 -
Endocrine Oncology (Bristol, England) Jan 2024This commentary explores the complexities faced by clinicians when encountering a secondary pathogenic variant (PV) in patients without a personal or family history of...
This commentary explores the complexities faced by clinicians when encountering a secondary pathogenic variant (PV) in patients without a personal or family history of -related tumors. The increasing use of germline multi-gene panel testing has led to a rise in such secondary findings, necessitating a nuanced approach to counseling, surveillance, and decision-making. We aim to discuss the current data surrounding the penetrance of PVs, the spectrum of screening guidelines, recommendations for educating individuals and families about their secondary findings, and the need for future research to optimize care for these individuals. Practical recommendations for clinicians dealing with patients with secondary findings include acknowledging the limitations of existing guidelines, fostering shared decision-making, and considering specialist referrals. Overall, the evolving landscape of penetrance data warrants ongoing reassessment of surveillance approaches.
PubMed: 38770192
DOI: 10.1530/EO-23-0043 -
BMC Cardiovascular Disorders May 2024Pheochromocytoma is rare in pregnant women. It presents as diverse symptoms, including hypertension and sweating. The symptoms of pregnant women with pheochromocytoma...
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.
Topics: Humans; Pheochromocytoma; Female; Pregnancy; Adrenal Gland Neoplasms; Pregnancy Complications, Neoplastic; Adult; Treatment Outcome; Chest Pain; Predictive Value of Tests; Adrenalectomy; Electrocardiography
PubMed: 38769478
DOI: 10.1186/s12872-024-03943-7 -
Endocrine-related Cancer Aug 2024In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a... (Review)
Review
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.
Topics: Humans; Male; Middle Aged; Adrenal Gland Neoplasms; Basic Helix-Loop-Helix Transcription Factors; Paraganglioma; Pheochromocytoma
PubMed: 38767322
DOI: 10.1530/ERC-23-0303 -
Abdominal Radiology (New York) May 2024
PubMed: 38761273
DOI: 10.1007/s00261-024-04289-6 -
Endocrine-related Cancer Aug 2024
Topics: Pheochromocytoma; Humans; Adrenal Gland Neoplasms; Paraganglioma; Biomedical Research
PubMed: 38758683
DOI: 10.1530/ERC-24-0050