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Journal of Pediatric Surgery Apr 2021The aim of this study is to present our experience in the management of hormonally active adrenal tumors in children.
AIM
The aim of this study is to present our experience in the management of hormonally active adrenal tumors in children.
MATERIAL AND METHODS
We did a retrospective chart review of all children with hormonally active adrenal tumors evaluated at the endocrinology clinic and operated at our institution between 1983 and 2019.
RESULTS
There were 75 patients included in the study, 58 with adrenocortical tumors (ACTs) and 17 with pheochromocytomas (PCCs). Within the group of patients with ACTs, there were 41 females and 17 males. The mean age was 58.3 (SD: 87.9; range: 9-211) months. The clinical manifestation of the tumor's hormonal activity was virilization in 37 cases, Cushing syndrome in 5, and mixed in 16. A positive family history was present in 11 patients (18.9%). The mean tumor size was 48.2 (SD: 22.4; range: 7-120) mm. The pathological diagnosis was adenoma in 42 cases, carcinoma in 15 cases, and macronodular hyperplasia in 1. Median follow-up was 192 (range: 50-290) months. Tumor recurrence occurred in 6 patients (10.3%), and there were three disease-related deaths (5%). Within the group of patients with PCCs, there were 11 males and 6 females. The mean age was 146.7 (SD: 71.2; range: 60-216) months. A positive family history was present in 7 patients (41.2%). The mean tumor size was 36.6 (SD: 16.7; range: 7-120) mm. The pheochromocytoma was classified as benign in 15 cases and as malignant in 2. During a median follow-up of 180 (range: 127-300) months, recurrence was observed in 6 cases (35.3%) and disease-related death in 1 case (5.9%).
CONCLUSIONS
Proper diagnosis and management at our referral center were associated with a high cure rate, even in cases of malignant tumors. Familial surveillance is highly recommended.
LEVEL OF EVIDENCE
Level IV.
Topics: Adrenal Gland Neoplasms; Adrenalectomy; Aged, 80 and over; Child; Female; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Pheochromocytoma; Retrospective Studies
PubMed: 32972741
DOI: 10.1016/j.jpedsurg.2020.08.020 -
Langenbeck's Archives of Surgery Mar 2022Composite phaeochromocytoma is a tumour containing a separate tumour of neuronal origin in addition to a chromaffin cell tumour. This study reports on two cases from a... (Review)
Review
INTRODUCTION
Composite phaeochromocytoma is a tumour containing a separate tumour of neuronal origin in addition to a chromaffin cell tumour. This study reports on two cases from a single centre's records and presents a systematic literature review of composite phaeochromocytomas.
METHODS
In addition to describing 2 case reports, a systematic search of the Medline database from inception up to April 2020 was done for human case reports on composite phaeochromocytomas. Relevant titles and/or abstracts were screened, and full texts were reviewed to identify appropriate studies. Data was extracted and a descriptive analysis of presentation, clinical features, management strategies and outcomes was performed. The quality of included studies was assessed using a critical appraisal checklist.
RESULTS
There were 62 studies included, with a total of 94 patients. Of 91 patients where data was available, the median (range) age of patients was 48 (4-86) years. Of 90 patients where information was provided, 57% were female. In at least 28% of patients, a genetic cause was identified. Common presenting features include abdominal pain, palpable mass, cardiovascular and gastrointestinal symptoms. The most common tumour component with phaeochromocytoma is ganglioneuroma; other components include ganglioneuroblastoma, neuroblastoma and malignant peripheral nerve sheath tumours. In patients with follow-up data (n=48), 85% of patients were alive and well at a median (range) follow-up time of 18 (0.5-168) months.
CONCLUSION
Composite phaeochromocytoma is a rare tumour, with a significant genetic predisposition. This review summarises available epidemiological data, which will be useful for clinicians managing this rare condition.
Topics: Adrenal Gland Neoplasms; Aged; Aged, 80 and over; Brain Neoplasms; Female; Humans; Middle Aged; Pheochromocytoma
PubMed: 33651160
DOI: 10.1007/s00423-021-02129-5 -
Hypertension in Pheochromocytoma and Paraganglioma: Evaluation and Management in Pediatric Patients.Current Hypertension Reports May 2021The rare catecholamine-secreting tumors, pheochromocytomas and paragangliomas (PPGL), account for a minority of cases of secondary hypertension in pediatrics. As such,... (Review)
Review
PURPOSE OF REVIEW
The rare catecholamine-secreting tumors, pheochromocytomas and paragangliomas (PPGL), account for a minority of cases of secondary hypertension in pediatrics. As such, perioperative blood pressure (BP) management in pediatric patients presents a distinct challenge. This review will expand the practitioner's knowledge of antihypertensive treatment options for the pediatric patient with PPGL with a focus on literature in the past several years.
RECENT FINDINGS
There continue to be only small case series and single-center experiences to provide guidelines regarding BP management. While phenoxybenzamine has been more routinely used, selective α-blockers, such as doxazosin, as well as calcium channel blockers, have also been utilized with success in pediatric patients. While the concept of obligatory α-adrenergic blockade for adult patients has been recently challenged, international guidelines and current practice patterns among pediatric clinicians continue to support preoperative α-adrenergic blockade to ensure the best possible patient outcomes. Selective α-blockers and calcium channel blockers are becoming more commonly used given the high cost, limited availability, and undesirable side effect profile of phenoxybenzamine.
Topics: Adrenal Gland Neoplasms; Adrenergic alpha-Antagonists; Adult; Child; Humans; Hypertension; Paraganglioma; Pediatrics; Pheochromocytoma
PubMed: 34041599
DOI: 10.1007/s11906-021-01150-9 -
Praxis 2020Adrenal glands are often not examined in abdominal ultrasound because it is thought that the adrenal glands cannot be visualized. The normal right adrenal gland can be...
Adrenal glands are often not examined in abdominal ultrasound because it is thought that the adrenal glands cannot be visualized. The normal right adrenal gland can be represented in most cases and the left one very often. Sonography makes an important contribution to the diagnosis of adrenal diseases. In addition to bleeding and tuberculosis, there are benign tumors (adrenal adenomas), pheochromocytomas, and adrenal carcinomas. There are also adrenal metastases and lymphomas.
Topics: Adrenal Gland Neoplasms; Adrenal Glands; Humans; Lymphoma; Pheochromocytoma; Ultrasonography
PubMed: 33050817
DOI: 10.1024/1661-8157/a003579 -
Journal of the American Veterinary... Aug 2019
Topics: Adrenal Gland Neoplasms; Animals; Cat Diseases; Cats; Female; Pheochromocytoma
PubMed: 31355720
DOI: 10.2460/javma.255.4.433 -
The Journal of Clinical Endocrinology... Jan 2021The characteristics of catecholamine-secreting pheochromocytomas have been well studied. However, less is known about the characteristics, management and outcome in... (Meta-Analysis)
Meta-Analysis
CONTEXT
The characteristics of catecholamine-secreting pheochromocytomas have been well studied. However, less is known about the characteristics, management and outcome in patients with ectopic adrenocorticotropic hormone (ACTH) and/or corticotrophin-releasing hormone (CRH)-secreting pheochromocytomas.
OBJECTIVE
To review the characteristics and outcomes of ACTH- and/or CRH-secreting pheochromocytomas.
DATA SOURCE
A systematic search of PubMed/MEDLINE and Web of Science, identifying relevant reports published up to 10 February 2020.
STUDY SELECTION
Original articles, including case reports and case series, reporting individual patient data from patients with ACTH- and/or CRH-secreting pheochromocytomas.
DATA EXTRACTION
Information on sex, age, symptoms at presentation, comorbidities, biochemistry, imaging, histopathology, and outcomes was extracted.
DATA SYNTHESIS
We identified 91 articles reporting on 99 cases of ACTH- and/or CRH-secreting pheochromocytomas (CRH-secreting n = 4). Median age at diagnosis was 49 years (interquartile range 38-59.5) with a 2:1 female to male ratio. Most patients presented with clinical Cushing syndrome (n = 79; 81%), hypertension (n = 87; 93%), and/or diabetes (n = 50; 54%). Blood pressure, glucose control, and biochemical parameters improved in the vast majority of patients postoperatively. Infections were the most common complication. Most cases (n = 70, 88%) with reported long-term outcome survived to publication (median follow-up 6 months).
CONCLUSION
Ectopic ACTH- and/or CRH-secreting pheochromocytoma should be considered in patients presenting with ACTH-dependent Cushing syndrome and adrenal mass. Despite the challenge in diagnosis, patient outcomes appear favorable.
Topics: Adrenal Gland Neoplasms; Adrenocorticotropic Hormone; Biomarkers; Corticotropin-Releasing Hormone; Humans; Pheochromocytoma; Prognosis
PubMed: 32710791
DOI: 10.1210/clinem/dgaa488 -
The Medical Clinics of North America Jul 2023Secondary hypertension occurs in 5% to 10% of all patients with hypertension. Given the majority of patients with hypertension will not have a secondary cause, only... (Review)
Review
Secondary hypertension occurs in 5% to 10% of all patients with hypertension. Given the majority of patients with hypertension will not have a secondary cause, only select patients with specific characteristics should be screened. The causes include a range of abnormalities, some are quite rare, such as pheochromocytoma, while others are much more common, such as chronic kidney disease. When considering which disorders to test for, it is important to incorporate the clinical history, family history, and prevalence of each disease. Treatment is specific to the underlying cause and includes medications, procedures, surgery, and device therapies.
Topics: Humans; Physicians, Primary Care; Hyperaldosteronism; Hypertension; Pheochromocytoma; Adrenal Gland Neoplasms
PubMed: 37258011
DOI: 10.1016/j.mcna.2023.03.010 -
The Journal of Clinical Endocrinology... Apr 2022Pheochromocytomas and paragangliomas (PPGLs) are being increasingly discovered by imaging performed for unrelated conditions. The genetic landscape of incidental PPGLs...
CONTEXT
Pheochromocytomas and paragangliomas (PPGLs) are being increasingly discovered by imaging performed for unrelated conditions. The genetic landscape of incidental PPGLs remains to be elucidated.
OBJECTIVE
We aimed to describe the genetic characteristics of PPGLs discovered incidentally in a large PPGL cohort.
METHODS
This retrospective cross-sectional study included 697 patients with pathology confirmed PPGLs, including 283 incidentalomas and 414 nonincidentalomas, at 2 tertiary care centers in China in 2009-2019. Tumor DNA samples were sequenced by next-generation sequencing. Identified genetic mutations were confirmed by Sanger sequencing and tested in 277 available matched blood DNA samples.
RESULTS
There was a lower proportion of patients with mutations identified (53% vs 63.3%; P = 0.0067) in incidental than nonincidental PPGLs. In incidental PPGLs, HRAS (11.7%), FGFR1 (11%), and RET (9.2%) were the top 3 mutated genes, whereas HRAS (17.9%), VHL (9.2%), and NF-1 (8.7%) exhibited the highest rate of mutations in nonincidental PPGLs. In incidental pheochromocytomas, the most frequently mutated genes were RET (10.9%), HRAS (10.4%), and VHL (8.6%), while in incidental paragangliomas, FGFR1 (32.8%), HRAS (16.4%), and EPAS1 (9.8%) topped the list. The frequency of NF-1 mutations was significantly lower in incidental than nonincidental pheochromocytomas (4.1% vs 11%; P = 0.0042), while FGFR1 mutations were far more common in incidental than nonincidental paragangliomas (32.8% vs 15.3%; P = 0.0076).
CONCLUSION
More than half of patients with incidental PPGLs had mutations in common susceptibility genes. The search for susceptibility genes should take both the mode of discovery (incidental vs nonincidental) and tumor location (pheochromocytoma vs paraganglioma) into consideration.
Topics: Adrenal Gland Neoplasms; Cross-Sectional Studies; Humans; Paraganglioma; Pheochromocytoma; Retrospective Studies
PubMed: 35106577
DOI: 10.1210/clinem/dgac058 -
Frontiers in Endocrinology 2022Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with heterogeneous clinical presentations and potential lethal outcomes. The diagnosis is...
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with heterogeneous clinical presentations and potential lethal outcomes. The diagnosis is based on clinical suspicion, biochemical testing, imaging and histopathological confirmation. Increasingly widespread use of imaging studies and surveillance of patients at risk of PPGL due to a hereditary background or a previous tumor is leading to the diagnosis of these tumors at an early stage. This has resulted in an increasing use of the term "silent" PPGL. This term and other variants are now commonly found in the literature without any clear or unified definition. Among the various terms, "clinically silent" is often used to describe the lack of signs and symptoms associated with catecholamine excess. Confusion arises when these and other terms are used to define the tumors according to their ability to synthesize and/or release catecholamines in relation to biochemical test results. In such cases the term "silent" and other variants are often inappropriately and misleadingly used. In the present analysis we provide an overview of the literature and propose standardized terminology in an attempt at harmonization to facilitate scientific communication.
Topics: Humans; Pheochromocytoma; Paraganglioma; Adrenal Gland Neoplasms; Catecholamines
PubMed: 36325453
DOI: 10.3389/fendo.2022.1021420 -
Nature Reviews. Endocrinology Apr 2020
Review
Topics: Humans; Hypoxia; Paraganglioma; Pheochromocytoma
PubMed: 32047276
DOI: 10.1038/s41574-020-0324-1