-
The Kaohsiung Journal of Medical... Jun 2024Pheochromocytoma is a tumor that usually originating from adrenal medullary chromaffin cells and producing one or more catecholamines, can manifest as hereditary or... (Comparative Study)
Comparative Study
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.
Topics: Humans; Pheochromocytoma; Female; Male; Adult; Middle Aged; Adrenal Gland Neoplasms; Retrospective Studies; Adolescent; Young Adult; Aged
PubMed: 38747189
DOI: 10.1002/kjm2.12836 -
Exploration of Targeted Anti-tumor... 2024Pheochromocytomas and paragangliomas (PPGLs) have emerged as one of the most common endocrine tumors. It epitomizes fascinating crossroads of genetic, metabolic, and... (Review)
Review
Pheochromocytomas and paragangliomas (PPGLs) have emerged as one of the most common endocrine tumors. It epitomizes fascinating crossroads of genetic, metabolic, and endocrine oncology, providing a canvas to explore the molecular intricacies of tumor biology. Predominantly rooted in the aberration of metabolic pathways, particularly the Krebs cycle and related enzymatic functionalities, PPGLs manifest an intriguing metabolic profile, highlighting elevated levels of oncometabolites like succinate and fumarate, and furthering cellular malignancy and genomic instability. This comprehensive review aims to delineate the multifaceted aspects of tumor metabolism in PPGLs, encapsulating genetic factors, oncometabolites, and potential therapeutic avenues, thereby providing a cohesive understanding of metabolic disturbances and their ramifications in tumorigenesis and disease progression. Initial investigations into PPGLs metabolomics unveiled a stark correlation between specific genetic mutations, notably in the succinate dehydrogenase complex () genes, and the accumulation of oncometabolites, establishing a pivotal role in epigenetic alterations and hypoxia-inducible pathways. By scrutinizing voluminous metabolic studies and exploiting technologies, novel insights into the metabolic and genetic aspects of PPGLs are perpetually being gathered elucidating complex interactions and molecular machinations. Additionally, the exploration of therapeutic strategies targeting metabolic abnormalities has burgeoned harboring potential for innovative and efficacious treatment modalities. This review encapsulates the profound metabolic complexities of PPGLs, aiming to foster an enriched understanding and pave the way for future investigations and therapeutic innovations in managing these metabolically unique tumors.
PubMed: 38745767
DOI: 10.37349/etat.2024.00222 -
Surgical Neurology International 2024Intradural extramedullary (IDEM) spinal cord tumors account for approximately two-thirds of benign intraspinal neoplasms. These are amenable to gross total excision but...
BACKGROUND
Intradural extramedullary (IDEM) spinal cord tumors account for approximately two-thirds of benign intraspinal neoplasms. These are amenable to gross total excision but can have variable functional outcomes, which plays a key role in assessing their impact on a patient's quality of life. Understanding the functional outcomes associated with these tumors is crucial for healthcare professionals to devise appropriate treatment plans and provide comprehensive care.
METHODS
In this study, we retrospectively reviewed the outcomes of 130 patients with IDEM tumors who underwent surgery in the past six years between January 2017 and December 2022 at a single institution. Patient demographics, symptoms, and tumor characteristics (anatomical and pathological) in all operated spinal IDEM tumors were analyzed. The neurological findings obtained during the preoperative stage and the postoperative follow-up were evaluated according to the Frankel grading. The back pain was assessed using the Denis pain scale (DPS).
RESULTS
The age range, gender distribution, presentation, histopathology, and tumor characteristics were analyzed. The histopathological outcomes of the study were as follows: 56 cases of schwannoma, 37 cases of meningiomas, 16 patients of neurofibroma, six cases of epidermoid cyst, five cases each of ependymoma and dermoid cyst, three cases of arachnoid cyst, two cases of metastasis, and one case of paraganglioma. Pain was the most common symptom (38.5%), followed by weakness in limbs (31.5%), paresthesia/numbness (22.3%), and sphincter disturbance (7.7%). Complete total resection was seen in 93% of cases, with 7% undergoing subtotal excision. The complications encountered were - four cases of surgical site infection and one case each of cerebrospinal fluid leak, pseudomeningocele, and epidural hematoma. In our series, 49.3% of patients had significantly good improvement in functional outcomes as per improvement in Frankel score, and 43% of patients had good functional improvement. Significant functional improvement was noted at immediate postoperative follow-up, 2-week follow-up, and six-month follow-up periods. Reoccurrence was seen in 7 cases (5.4%). The DPS score mean values showed a significant decrease over the follow-up duration as compared to preoperative mean values. Significantly poor outcome was seen in IDEM tumours present anteriorly.
CONCLUSION
The IDEM tumors are usually benign and are readily detected by contrast-enhanced magnetic resonance imaging scans. These have variable functional outcomes in different centers. Assessing this functional outcome is an essential aspect of managing IDEM spinal tumors. It was observed through our study that the ventral location of the tumor, thoracic tumors, and poor preoperative neurological status of the patient correspond with poorer postoperative functional outcomes. Furthermore, a significant decrease in the pain symptoms with improvement of Frankel score was seen postoperatively, thus this being suggestive of a significant improvement of functional outcome after surgery. This study helps to conclude that the morbidity associated with the resection of IDEM tumors is not as significant as originally thought to be.
PubMed: 38742010
DOI: 10.25259/SNI_689_2023 -
Journal of the Endocrine Society Apr 2024Pheochromocytomas and paragangliomas (PPGLs), rare neuroendocrine tumors arising from chromaffin cells, present a significant diagnostic challenge due to their clinical...
Pheochromocytomas and paragangliomas (PPGLs), rare neuroendocrine tumors arising from chromaffin cells, present a significant diagnostic challenge due to their clinical rarity and polymorphic symptomatology. The clinical cases demonstrate the importance of an integrated approach that combines clinical assessment, biochemical testing, and imaging to distinguish PPGLs from mimicking conditions, such as obstructive sleep apnea and interfering medication effects, which can lead to false-positive biochemical results. Although a rare condition, false-negative metanephrine levels can occur in pheochromocytomas, but imaging findings can give some clues and increase suspicion for a pheochromocytoma diagnosis. This expert endocrine consult underscores the critical role of evaluating preanalytical conditions and pretest probability in the biochemical diagnosis of PPGLs. Moreover, a careful differentiation of PPGLs from similar conditions and careful selection and interpretation of diagnostic tests, with focus on understanding and reducing false positives to enhance diagnostic accuracy and patient outcomes, is crucial.
PubMed: 38737592
DOI: 10.1210/jendso/bvae078 -
SAGE Open Medical Case Reports 2024Collet-Sicard syndrome is a rare neurological disorder caused by injury to the cranial nerve pairs IX, X, X, and XII. The author reports on a previously fit 27-year-old...
Collet-Sicard syndrome is a rare neurological disorder caused by injury to the cranial nerve pairs IX, X, X, and XII. The author reports on a previously fit 27-year-old man who presented with dysphagia, choking on drinking water, hoarseness, weakness when turning the neck and shrugging the shoulders, and unexplained weight loss. Enhanced magnetic resonance imaging indicated a space-occupying lesion at the right jugular foramen. After surgical resection, the pathologic findings suggested a paraganglioma of the right jugular foramen and confirmed the diagnosis of Collet-Sicard syndrome. After postoperative treatment with a combination of acupuncture and modern medicine, the patient's symptoms significantly improved. This article analyzes previous literature regarding Collet-Sicard syndrome etiology and reports the case of a patient with a rare etiology, whose prognosis improved significantly after treatment with a combination of acupuncture and modern medicine.
PubMed: 38737561
DOI: 10.1177/2050313X241249613 -
The Pan African Medical Journal 2024Ectopic 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...
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.
Topics: Adult; Female; Humans; Middle Aged; Adrenal Gland Neoplasms; Adrenalectomy; Adrenocorticotropic Hormone; Cushing Syndrome; Hydrocortisone; Hypertension; Pheochromocytoma
PubMed: 38737225
DOI: 10.11604/pamj.2024.47.88.36616 -
Journal of Zhejiang University.... Mar 2024Pheochromocytomas and paragangliomas (PPGLs) cause symptoms by altering the circulation levels of catecholamines and peptide hormones. Currently, the diagnosis of PPGLs...
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.
Topics: Pheochromocytoma; Humans; Adrenal Gland Neoplasms; Pyrimidines; Methionine; Tyrosine; Cysteine; Male; Metabolomics; Female; Middle Aged; Adult; Metabolic Networks and Pathways
PubMed: 38725340
DOI: 10.1631/jzus.B2300579 -
Asian Journal of Surgery May 2024
PubMed: 38724368
DOI: 10.1016/j.asjsur.2024.04.131 -
Frontiers in Endocrinology 2024Vagal paraganglioma (VPGL) is a rare neuroendocrine tumor that originates from the paraganglion associated with the vagus nerve. VPGLs present challenges in terms of...
Vagal paraganglioma (VPGL) is a rare neuroendocrine tumor that originates from the paraganglion associated with the vagus nerve. VPGLs present challenges in terms of diagnostics and treatment. VPGL can occur as a hereditary tumor and, like other head and neck paragangliomas, is most frequently associated with mutations in the genes. However, data regarding the genetics of VPGL are limited. Herein, we report a rare case of a 41-year-old woman with VPGL carrying a germline variant in the gene. Using whole-exome sequencing, a variant, p.S249R, was identified; no variants were found in other PPGL susceptibility and candidate genes. Loss of heterozygosity analysis revealed the loss of the wild-type allele of the gene in the tumor. The pathogenic effect of the p.S249R variant on FH activity was confirmed by immunohistochemistry for S-(2-succino)cysteine (2SC). Potentially deleterious somatic variants were found in three genes, , , and . The latter two encode transcriptional regulators that can impact gene expression deregulation and are involved in tumor development and progression. Moreover, -mutated VPGL was characterized by a molecular phenotype different from -mutated PPGLs. In conclusion, the association of genetic changes in the gene with the development of VPGL was demonstrated. The germline variant : p.S249R and somatic deletion of the second allele can lead to biallelic gene damage that promotes tumor initiation. These results expand the clinical and mutation spectra of -related disorders and improve our understanding of the molecular genetic mechanisms underlying the pathogenesis of VPGL.
Topics: Adult; Female; Humans; Acid Anhydride Hydrolases; Cranial Nerve Neoplasms; Exome Sequencing; Germ-Line Mutation; Paraganglioma; Vagus Nerve Diseases
PubMed: 38721148
DOI: 10.3389/fendo.2024.1381093