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Endocrine-related Cancer Aug 2024
Topics: Pheochromocytoma; Humans; Adrenal Gland Neoplasms; Paraganglioma; Biomedical Research
PubMed: 38758683
DOI: 10.1530/ERC-24-0050 -
Cancer Journal (Sudbury, Mass.)Neuroendocrine tumors (NETs) are rare tumors that develop from cells of the neuroendocrine system and can originate in multiple organs and tissues such as the bowels,... (Review)
Review
Neuroendocrine tumors (NETs) are rare tumors that develop from cells of the neuroendocrine system and can originate in multiple organs and tissues such as the bowels, pancreas, adrenal glands, ganglia, thyroid, and lungs. This review will focus on gastroenteropancreatic NETs (more commonly called NETs) characterized by frequent somatostatin receptor (SSTR) overexpression and pheochromocytomas/paragangliomas (PPGLs), which typically overexpress norepinephrine transporter. Advancements in SSTR-targeted imaging and treatment have revolutionized the management of patients with NETs. This comprehensive review delves into the current practice, discussing the use of the various Food and Drug Administration-approved SSTR-agonist positron emission tomography tracers and the predictive imaging biomarkers, and elaborating on 177Lu-DOTATATE peptide receptor radionuclide therapy including the evolving areas of posttherapy imaging practices and peptide receptor radionuclide therapy retreatment. SSTR-targeted imaging and therapy can also be used in patients with PPGL; however, this patient population has demonstrated the best outcomes from norepinephrine transporter-targeted therapy with 131I-metaiodobenzylguanidine. Metaiodobenzylguanidine theranostics for PPGL will be discussed, noting that in 2024 it became commercially unavailable in the United States. Therefore, the use and reported success of SSTR theranostics for PPGL will also be explored.
Topics: Humans; Neuroendocrine Tumors; Receptors, Somatostatin; Radiopharmaceuticals; Pancreatic Neoplasms; Theranostic Nanomedicine; Precision Medicine; Positron-Emission Tomography; Intestinal Neoplasms
PubMed: 38753753
DOI: 10.1097/PPO.0000000000000723 -
Endocrine-related Cancer Jul 2024The age-specific development of the three constituent components of multiple endocrine neoplasia type 2 (MEN 2) is incompletely characterized for many of the >30...
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.
Topics: Humans; Proto-Oncogene Proteins c-ret; Middle Aged; Adult; Multiple Endocrine Neoplasia Type 2a; Adolescent; Male; Female; Thyroid Neoplasms; Young Adult; Pheochromocytoma; Child; Aged; Child, Preschool; Adrenal Gland Neoplasms; Genotype; Infant; Germ-Line Mutation; Carcinoma, Neuroendocrine; Heterozygote; Hyperparathyroidism, Primary; Multiple Endocrine Neoplasia Type 2b; Aged, 80 and over
PubMed: 38753300
DOI: 10.1530/ERC-24-0038 -
Hypertension Research : Official... Jul 2024Selective venous sampling (SVS), an invasive radiographic procedure that depends on contrast media, holds a unique role in diagnosing and guiding the treatment of... (Review)
Review
Selective venous sampling (SVS), an invasive radiographic procedure that depends on contrast media, holds a unique role in diagnosing and guiding the treatment of certain types of secondary hypertension, particularly in patients who may be candidates for curative surgery. The adrenal venous sampling (AVS), in particular, is established as the gold standard for localizing and subtyping primary aldosteronism (PA). Throughout decades of clinical practice, AVS could be applied not only to PA but also to other endocrine diseases, such as adrenal Cushing syndrome (ACS) and Pheochromocytomas (PCCs). Notably, the application of AVS in ACS and PCCs remains less recognized compared to PA, with the low success rate of catheterization, the controversy of results interpretation, and the absence of a standardized protocol. Additionally, the AVS procedure necessitates enhancements to boost its success rate, with several helpful but imperfect methods emerging, yet continued exploration remains essential. We also observed renal venous sampling (RVS), an operation akin to AVS in principle, serves as an effective means of diagnosing renin-dependent hypertension, aiding in the identification of precise sources of renin excess and helping the selection of surgical candidates with renin angiotensin aldosterone system (RAAS) abnormal activation. Nonetheless, further basic and clinical research is needed. Selective venous sampling (SVS) can be used in identifying cases of secondary hypertension that are curable by surgical intervention. Adrenal venous sampling (AVS) and aldosterone measurement for classificatory diagnosis of primary aldosteronism (PA) are established worldwide. While its primary application is for PA, AVS also holds the potential for diagnosing other endocrine disorders, including adrenal Cushing's syndrome (ACS) and pheochromocytomas (PCCs) through the measurements of cortisol and catecholamine respectively. In addition, renal venous sampling and renin measurement can help to diagnose renovascular hypertension and reninoma.
Topics: Humans; Hypertension; Hyperaldosteronism; Adrenal Glands; Adrenal Gland Neoplasms; Cushing Syndrome; Pheochromocytoma; Renin; Aldosterone; Renal Veins
PubMed: 38750220
DOI: 10.1038/s41440-024-01699-3 -
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