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Best Practice & Research. Clinical... May 2020Childhood adrenocortical tumors (ACTs) are rare, representing ∼0.2% of all pediatric malignancies and having an incidence of 0.2-0.3 new cases per million per year in... (Review)
Review
Childhood adrenocortical tumors (ACTs) are rare, representing ∼0.2% of all pediatric malignancies and having an incidence of 0.2-0.3 new cases per million per year in the United States, but incidences are remarkably higher in Southern Brazil. At diagnosis, most children show signs and symptoms of virilization, Cushing syndrome, or both. Less than 10% of patients with ACT exhibit no endocrine syndrome at presentation, although some show abnormal concentrations of adrenal cortex hormones. Pediatric ACT is commonly associated with constitutional genetic and/or epigenetic alterations, represented by germline TP53 mutations or chromosome 11p abnormalities. Complete tumor resection is required to achieve cure. The role of chemotherapy is not established, although definitive responses to several anticancer drugs are documented. For patients undergoing complete tumor resection, favorable prognostic factors include young age, small tumor size, virilization, and adenoma histology. Prospective studies are necessary to further elucidate the pathogenesis of ACT and improve patient outcomes.
Topics: Adenoma; Adrenal Cortex Neoplasms; Age of Onset; Antineoplastic Agents; Child; Child, Preschool; Female; Germ-Line Mutation; Humans; Incidence; Male; Prognosis; Prospective Studies; Virilism
PubMed: 32636100
DOI: 10.1016/j.beem.2020.101448 -
Pituitary Jun 2023The majority of corticotroph adenomas are benign but some are locally invasive, demonstrate high rates of recurrence, and exhibit a relatively poor response to often... (Review)
Review
The majority of corticotroph adenomas are benign but some are locally invasive, demonstrate high rates of recurrence, and exhibit a relatively poor response to often repeated surgical, medical, and radiation treatment. Herein, we summarize the currently known somatic and genetic mutations and other molecular factors that influence the pathogenesis of these tumors and discuss currently available therapies. Although recent molecular studies have advanced our understanding of the pathogenesis and behavior of these refractory corticotroph adenomas, these insights do not reliably guide treatment choices at present. Development of additional diagnostic tools and novel tumor-directed therapies that offer efficacious treatment choices for patients with refractory corticotroph adenomas are needed.
Topics: Humans; ACTH-Secreting Pituitary Adenoma; Adenoma; Pituitary Neoplasms
PubMed: 36917358
DOI: 10.1007/s11102-023-01308-5 -
Child's Nervous System : ChNS :... Nov 2019Pediatric pituitary adenomas are a rare medical entity that makes up a small portion of intracranial tumors in children and adolescents. Although benign, the majority of... (Review)
Review
BACKGROUND
Pediatric pituitary adenomas are a rare medical entity that makes up a small portion of intracranial tumors in children and adolescents. Although benign, the majority of these lesions are secreting functional tumors with the potential for physiological sequela that can profoundly affect a child's development.
FOCUS OF REVIEW
In this review, we discuss the medical and surgical management of these tumors with a focus on clinical presentation, diagnostic identification, surgical approach, and associated adjuvant therapies. We will also discuss our current treatment paradigm using endoscopic, open, and combined approaches to treat these tumors. The management of pituitary tumors requires a multidisciplinary team of surgeons, endocrinologists, and neuroanesthesiologists as well as neurocritical care specialists to deliver comprehensive care.
Topics: ACTH-Secreting Pituitary Adenoma; Adenoma; Adolescent; Child; Child, Preschool; Craniotomy; Dopamine Agonists; Growth Hormone-Secreting Pituitary Adenoma; Humans; Microsurgery; Nasal Cavity; Natural Orifice Endoscopic Surgery; Neuroendoscopy; Pituitary Neoplasms; Prolactinoma; Sphenoid Bone
PubMed: 31302729
DOI: 10.1007/s00381-019-04293-y -
Annales D'endocrinologie Sep 2019Acromegaly is characterized by increased release of growth hormone (GH) and, consequently, Insulin-Like Growth Factor I (IGF-I), most often by a pituitary adenoma.... (Review)
Review
Acromegaly is characterized by increased release of growth hormone (GH) and, consequently, Insulin-Like Growth Factor I (IGF-I), most often by a pituitary adenoma. Prolonged exposure to excess hormone leads to progressive somatic disfigurement and a wide range of systemic manifestations that are associated with increased mortality. Transsphenoidal adenomectomy is the treatment of choice of GH-secreting pituitary tumors but surgical cure is not achieved in around 50% of patients, then adjuvant treatment is necessary. Mortality in acromegaly is normalized with biochemical control and has decreased in the last decade with the increased use of adjuvant therapy. Both GH and IGF-I are currently biomarkers for assessing disease activity in patients with acromegaly. However, discordance between GH and IGF-I results is encountered in a quarter of treated patients. The impacts of such a discrepancy over mortality and morbidity and the risk of biochemical and/or clinical recurrence are unclear. Moreover, despite a good biochemical control, some symptoms persist, leading to a decreased quality of life. Back pain due to vertebral fractures seem to be frequent in these patients and underdiagnosed. In patients with acromegaly, bone mineral density is not a reliable predictor of fracture risk. A more accurate evaluation of bone microstructural alterations associated with GH hypersecretion and vertebral fractures may be provided by new radiological devices analyzing alteration of trabecular microarchitecture, leading to a better prevention. © 2019 Published by Elsevier Masson SAS. All rights reserved. Cet article fait partie du numéro supplément Les Must de l'Endocrinologie 2019 réalisé avec le soutien institutionnel de Ipsen-Pharma.
Topics: Acromegaly; Adenoma; Diagnostic Techniques, Endocrine; Growth Hormone-Secreting Pituitary Adenoma; Human Growth Hormone; Humans; Quality Assurance, Health Care; Quality Improvement
PubMed: 31606057
DOI: 10.1016/S0003-4266(19)30112-X -
Clinical Medicine (London, England) Mar 2023Pituitary incidentalomas are common findings with increasing use of modern neuroradiological imaging undertaken for symptoms unrelated to pituitary disease. The...
Pituitary incidentalomas are common findings with increasing use of modern neuroradiological imaging undertaken for symptoms unrelated to pituitary disease. The prevalence of these lesions is ∼10% in autopsy studies and the incidence varies from 10% to 38% on magnetic resonance imaging in the published literature. They are almost always benign in nature and most are non-functioning (non-secreting) adenomas. Although many individuals are asymptomatic at diagnosis, some with functioning (secreting) pituitary adenomas or larger non-functioning adenomas have symptoms. All identified cases should have a thorough clinical and endocrinological evaluation to help with precise management, which depends on the size of the lesion, hormonal status (functioning versus non-functioning adenoma) and the presence of visual deficits resulting from optic nerve compression by the pituitary adenoma. Here, we provide an overview of the initial assessment and management of pituitary incidentalomas for clinicians not routinely involved in the management of pituitary disease.
Topics: Humans; Incidental Findings; Pituitary Neoplasms; Pituitary Diseases; Adenoma; Magnetic Resonance Imaging
PubMed: 36958836
DOI: 10.7861/clinmed.2023-0020 -
Journal of Investigative Medicine : the... Aug 2023The therapeutic response heterogeneity in acromegaly persists, despite the medical-surgical advances of recent years. Thus, personalized medicine implementation, which... (Review)
Review
The therapeutic response heterogeneity in acromegaly persists, despite the medical-surgical advances of recent years. Thus, personalized medicine implementation, which focuses on each patient, is justified. Metabolomics would decipher the molecular mechanisms underlying the therapeutic response heterogeneity. Identification of altered metabolic pathways would open new horizons in the therapeutic management of acromegaly. This research aimed to evaluate the metabolomic profile in acromegaly and metabolomics' contributions to understanding disease pathogenesis. A systematic review was carried out by querying four electronic databases and evaluating patients with acromegaly through metabolomic techniques. In all, 21 studies containing 362 patients were eligible. Choline, the ubiquitous metabolite identified in growth hormone (GH)-secreting pituitary adenomas (Pas) by in vivo magnetic resonance spectroscopy (MRS), negatively correlated with somatostatin receptors type 2 expression and positively correlated with magnetic resonance imaging T2 signal and Ki-67 index. Moreover, elevated choline and choline/creatine ratio differentiated between sparsely and densely granulated GH-secreting PAs. MRS detected low hepatic lipid content in active acromegaly, which increased after disease control. The panel of metabolites of acromegaly deciphered by mass spectrometry (MS)-based techniques mainly included amino acids (especially branched-chain amino acids and taurine), glyceric acid, and lipids. The most altered pathways in acromegaly were the metabolism of glucose (particularly the downregulation of the pentose phosphate pathway), linoleic acid, sphingolipids, glycerophospholipids, arginine/proline, and taurine/hypotaurine. Matrix-assisted laser desorption/ionization coupled with MS imaging confirmed the functional nature of GH-secreting PAs and accurately discriminated PAs from healthy pituitary tissue.
Topics: Humans; Acromegaly; Growth Hormone-Secreting Pituitary Adenoma; Magnetic Resonance Imaging; Metabolomics; Adenoma
PubMed: 37139720
DOI: 10.1177/10815589231169452 -
Endocrinology and Metabolism Clinics of... Sep 2020Nelson's syndrome (NS) is a condition which may develop in patients with Cushing's disease after bilateral adrenalectomy. Although there is no formal consensus on what... (Review)
Review
Nelson's syndrome (NS) is a condition which may develop in patients with Cushing's disease after bilateral adrenalectomy. Although there is no formal consensus on what defines NS, corticotroph tumor growth and/or gradually increasing ACTH levels are important diagnostic elements. Pathogenesis is unclear and well-established predictive factors are lacking; high ACTH during the first year after bilateral adrenalectomy is the most consistently reported predictive parameter. Management is individualized and includes surgery, with or without radiotherapy, radiotherapy alone, and observation; medical treatments have shown inconsistent results. A subset of tumors demonstrates aggressive behavior with challenging management, malignant transformation and poor prognosis.
Topics: ACTH-Secreting Pituitary Adenoma; Adenoma; Endocrinology; Humans; Medical Oncology; Nelson Syndrome; Pituitary ACTH Hypersecretion
PubMed: 32741480
DOI: 10.1016/j.ecl.2020.05.004 -
JAMA Jun 2022
Topics: Adenoma; Colonoscopy; Colorectal Neoplasms; Early Detection of Cancer; Humans
PubMed: 35670806
DOI: 10.1001/jama.2022.3822 -
Annals of Surgery Apr 2023We aimed to examine associations between the oral, fecal, and mucosal microbiome communities and adenoma formation.
OBJECTIVE
We aimed to examine associations between the oral, fecal, and mucosal microbiome communities and adenoma formation.
SUMMARY BACKGROUND DATA
Data are limited regarding the relationships between microbiota and preneoplastic colorectal lesions.
METHODS
Individuals undergoing screening colonoscopy were prospectively enrolled and divided into adenoma and nonadenoma formers. Oral, fecal, nonadenoma and adenoma-adjacent mucosa were collected along with clinical and dietary information. 16S rRNA gene libraries were generated using V4 primers. DADA2 processed sequence reads and custom R-scripts quantified microbial diversity. Linear regression identified differential taxonomy and diversity in microbial communities and machine learning identified adenoma former microbial signatures.
RESULTS
One hundred four subjects were included, 46% with adenomas. Mucosal and fecal samples were dominated by Firmicutes and Bacteroidetes whereas Firmicutes and Proteobacteria were most abundant in oral communities. Mucosal communities harbored significant microbial diversity that was not observed in fecal or oral communities. Random forest classifiers predicted adenoma formation using fecal, oral, and mucosal amplicon sequence variant (ASV) abundances. The mucosal classifier reliably diagnosed adenoma formation with an area under the curve (AUC) = 0.993 and an out-of-bag (OOB) error of 3.2%. Mucosal classifier accuracy was strongly influenced by five taxa associated with the family Lachnospiraceae, genera Bacteroides and Marvinbryantia, and Blautia obeum. In contrast, classifiers built using fecal and oral samples manifested high OOB error rates (47.3% and 51.1%, respectively) and poor diagnostic abilities (fecal and oral AUC = 0.53).
CONCLUSION
Normal mucosa microbial abundances of adenoma formers manifest unique patterns of microbial diversity that may be predictive of adenoma formation.
Topics: Humans; Bacteria; RNA, Ribosomal, 16S; Adenosine Deaminase; Gastrointestinal Microbiome; Intercellular Signaling Peptides and Proteins; Feces; Adenoma
PubMed: 35129506
DOI: 10.1097/SLA.0000000000005261 -
Revista Espanola de Enfermedades... Oct 2019A 51 years-old male with several family history of gastric cancer, who was studied one year before for dyspepsia. A new gastroscopy was done that objectified in the...
A 51 years-old male with several family history of gastric cancer, who was studied one year before for dyspepsia. A new gastroscopy was done that objectified in the greater curvature, a sessile polyp with slightly depressed center and a villous crypt pattern with Narrow Band Imaging. The histopathology study shown a horizontalization of the basal glands and basal dysplasia, compatible with serrated adenoma. A 51 year-old male with a family history of gastric cancer was studied for one year due to dyspepsia. A new gastroscopy was performed that identified a sessile polyp with a slightly depressed center and a villous crypt pattern in the greater curvature via narrow band imaging. The histopathology study showed horizontal basal glands and basal dysplasia, which was compatible with serrated adenoma.
Topics: Adenoma; Gastroscopy; Humans; Male; Middle Aged; Stomach Neoplasms
PubMed: 30963772
DOI: 10.17235/reed.2019.6145/2018