Adrenal oncoctyoma of uncertain malignant potential: a rare etiology of adrenal incidentaloma.
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ABSTRACT:
SUBMITTER: Kedia RR
PROVIDER: S-EPMC4771856 | biostudies-other | 2016 Mar
REPOSITORIES: biostudies-other
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Project description:Objective:We present a case of an adrenal hemangioma, an uncommon cause of an adrenal mass, and review the clinical presentation, work-up, and management of adrenal incidentalomas. Background:A 64-year-old male was found to have a right adrenal incidentaloma during work-up for elevated liver transaminase levels, later found to be from hepatitis C. The mass was suspicious for adrenocortical carcinoma on CT imaging. Biochemical evaluation revealed no evidence of function. He underwent an open right adrenalectomy. The mass was found to be an adrenal hemangioma on histopathologic analysis. Methods:This is a case report with pertinent review of the diagnosis and management of adrenal incidentalomas. Results:Adrenal hemangiomas are rare, benign, nonfunctional tumors typically found during imaging for other reasons. As illustrated by this case, they appear similar to adrenocortical carcinoma on CT imaging. The diagnosis is usually not made prior to surgical resection. Conclusion:Adrenal hemangioma is a rare nonfunctional adrenal incidentaloma that displays atypical features on CT imaging. The suspicion for adrenocortical carcinoma usually prompts adrenalectomy.
| S-EPMC6011133 | biostudies-other
Project description:Characteristic but rare vascular neoplasms in the adult liver composed of small vessels with an infiltrative border were collected from an international group of collaborators over a 5-year period (N=17). These tumors were termed hepatic small vessel neoplasm (HSVN), and the histologic differential diagnosis was angiosarcoma (AS). The average age of patients was 54years (range, 24-83years). HSVN was more common in men. The average size was 2.1cm (range, 0.2-5.5cm). Diagnosis was aided by immunohistochemical stains for vascular lineage (CD31, CD34, FLI-1), which were uniformly positive in HSVN. Immunohistochemical stains (p53, c-Myc, GLUT-1, and Ki-67) for possible malignant potential are suggestive of a benign/low-grade tumor. Capture-based next-generation sequencing (using an assay that targets the coding regions of more than 500 cancer genes) identified an activating hotspot GNAQ mutation in 2 of 3 (67%) tested samples, and one of these cases also had a hotspot mutation in PIK3CA. When compared with hepatic AS (n=10) and cavernous hemangioma (n=6), the Ki-67 proliferative index is the most helpful tool in excluding AS, which demonstrated a tumor cell proliferative index greater than 10% in all cases. Strong p53 and diffuse c-Myc staining was also significantly associated with AS but not with HSVN or cavernous hemangioma. There have been no cases with rupture/hemorrhage, disseminated intravascular coagulation, or Kasabach-Merritt syndrome. Thus far, there has been no metastasis or recurrence of HSVN, but complete resection and close clinical follow-up are recommended because the outcome remains unknown.
| S-EPMC5242228 | biostudies-literature
Project description:Patients with Beckwith-Wiedemann syndrome (BWS) are predisposed to developing embryonal tumors, with hepatoblastoma being the most common type. Our patient showed hemihypertrophy, macroglossia, and paternal uniparental disomy in chromosome 11 and was diagnosed with BWS. When the patient was 9 months old, a 2.5×1.5 cm oval hypoechoic exophytic mass was detected in the inferior tip of his right liver. Preoperative imaging identified it as hepatoblastoma; however, histologic, immunohistochemistry, and electron microscopic findings were compatible with adrenal cortical neoplasm with uncertain malignant potential. The origin of the adrenal tissue seemed to be heterotopic. Here, we describe for the first time an adrenal cortical neoplasm with uncertain malignant potential arising in the heterotopic adrenal cortex located in the liver of a patient with BWS.
| S-EPMC6435991 | biostudies-literature
Project description:ObjectiveAdrenal incidentaloma are lesions which are stated incidentally by imaging methods when there is no suspicion of any disease in adrenal gland. Inappropriate Jak2 signaling causes some solid and hematological malignancies. But the Jak2 mutation has not been previously evaluated with regard to adrenal tumors. In this study, we aimed to positivity of the Jak2 mutation in patients with non functioning adrenal incidentaloma (NFAI).Methods45 (38 female-7 male) patients, who were followed due to NFAI at Tepecik Training and Research Hospital, Department of Endocrinology and Internal Medicine between February 2014 and March 2015, and 45 (31 female-14 male) healthy controls were included in the study.ResultsThe average age was 54.02±11.7 years and 38 patients were female, 7 were men. All patients underwent the following analyses for excluding a functioning adrenal mass, overnight dexamethasone suppression test, 24 hour urinary metanephrine and normetanephrine, plasma aldosterone/ renin activity ratio. Jak2 mutation of the patients who were diagnosed as NFAI was all negative.ConclusionWe could not identify the JAK2 gene mutation positivity in any sample. Since other possible mechanisms may throw fresh light on the etiology of adrenal incidentaloma, further clinical studies are needed on this subject.
| S-EPMC6516447 | biostudies-literature
Project description:Epidemics of CKD of uncertain etiology (CKDu) are emerging around the world. Highlighting common risk factors for CKD of uncertain etiology across various regions and populations may be important for health policy and public health responses.We searched PubMed, Embase, Scopus and Web of Science databases to identify published studies on CKDu. The search was generated in January of 2015; no language or date limits were used. We used a vote-counting method to evaluate exposures across all studies.We identified 1607 articles, of which 26 met inclusion criteria. Eighteen (69%) were conducted in known CKDu-endemic countries: Sri Lanka (38%), Nicaragua (19%), and El Salvador (12%). The other studies were from India, Japan, Australia, Mexico, Sweden, Tunisia, Tanzania, and the United States. Heavy metals, heat stress, and dietary exposures were reported across all geographic regions. In south Asia, family history, agrochemical use, and heavy metal exposures were reported most frequently, whereas altitude and temperature were reported only in studies from Central America. Across all regions, CKDu was most frequently associated with a family history of CKDu, agricultural occupation, men, middle age, snake bite, and heavy metal exposure.Studies examining etiologies of CKDu have reported many exposures that are heterogeneous and vary by region. To identify etiologies of CKDu, designing consistent and comparative multisite studies across high-risk populations may help elucidate the importance of region-specific versus global risk factors.
| S-EPMC4791820 | biostudies-other
Project description:Abstract Recent guidelines on adrenal incidentalomas suggested that patients with an indeterminate adrenal mass on imaging choosing not to undergo adrenalectomy to repeat imaging with either unenhanced computed tomography (CT) or Magnetic resonance imaging with chemical shift analysis in 6 to 12 months. If the adrenal mass is non-functioning and stable in size, patients may not require any additional monitoring.We report here a case of a young woman known for a small adrenal mass, stable in size for 4 years who was ultimately diagnosed with a Stage IV adrenal cortical carcinoma (ACC) 10 years later. Case report. In 2006, a 32-year-old French Canadian woman was referred in endocrinology for evaluation of a left 2.7 x 2.0 cm incidentally discovered adrenal mass. On presentation, her hormonal work up included a normal 1mg overnight dexamethasone suppression test (DST) and dehydroepiandrosterone sulfate (DHEA-S) within normal limits. On unenhanced computed tomography (CT), the radiodensity of the adrenal mass was 23 Hounsfield units (HU). The patient was followed with adrenal imaging and hormonal investigation yearly for 4 years and the adrenal mass demonstrated no growth in 4 years. Ten years after initial presentation, in 2016, after five years lost to follow up the patient presented with renal colic. Urological CT has unexpectedly revealed that the left adrenal mass had significantly progressed measuring 9 x 8.2 cm and 2 new hepatic lesions were identified. Biochemical work up demonstrated hypercortisolism and hyperandrogenemia: plasma cortisol after 1 mg overnight DST was 486 nmol/L and DHEA-S was 14.0 mmol/L (N 0.9-6.5). Twenty-four-hour urine steroid profiling was consistent with an ACC co-secreting cortisol, androgens and glucocorticoid precursors. The diagnosis of ACC with hepatic ACC metastases was confirmed by histology. Following genetic analysis, germline heterozygous variant of uncertain significance (VUS) was identified in the exon 16 of the APC gene NM_000038.5:c.2414G>A,(p.Arg805Gln) (rs200593940). The patient had no clinical manifestations of familial adenomatous polyposis. Immunohistochemical staining of the ACC were positive for IGF-2 and cytoplasmic/nuclear β-catenin, however, no somatic APC or beta-catenin mutations were found. This case illustrates that 1) small adrenal incidentaloma stable in size may progress to ACC 2) better genetic characterization of these patients may eventually give clues to this unusual evolution.
| S-EPMC6553155 | biostudies-literature
Project description:Objective: To evaluate the feasibility and accuracy of machine learning based texture analysis of unenhanced CT images in differentiating subclinical pheochromocytoma (sPHEO) from lipid-poor adenoma (LPA) in adrenal incidentaloma (AI). Methods: Seventy-nine patients with 80 LPA and 29 patients with 30 sPHEO were included in the study. Texture parameters were derived using imaging software (MaZda). Thirty texture features were selected and LPA was performed for the features selected. The number of positive features was used to predict results. Logistic multiple regression analysis was performed on the 30 texture features, and a predictive equation was created based on the coefficients obtained. Results: LPA yielded a misclassification rate of 19.39% in differentiating sPHEO from LPA. Our predictive model had an accuracy rate of 94.4% (102/108), with a sensitivity of 86.2% (25/29) and a specificity of 97.5% (77/79) for differentiation. When the number of positive features was greater than 8, the accuracy of prediction was 85.2% (92/108), with a sensitivity of 96.6% (28/29) and a specificity of 81% (64/79). Conclusions: Machine learning-based quantitative texture analysis of unenhanced CT may be a reliable quantitative method in differentiating sPHEO from LPA when AI is present.
| S-EPMC6171020 | biostudies-literature
Project description:Adrenal incidentalomas (AIs) are found commonly on axial imaging. Around 30% exhibit autonomous cortisol secretion (ACS) associated with increased cardiovascular events and death.We hypothesized that AI/ACS patients have an abnormal cortisol rhythm that could be reversed by use of carefully timed short-acting cortisol synthesis blockade, with improvement in cardiovascular disease markers.In a phase 1/2a, prospective study (Eudract no. 2012-002586-35), we recruited six patients with AI/ACS and two control groups of six sex-, age-, and body mass index-matched individuals: (1) patients with AI and no ACS (AI/NoACS) and (2) healthy volunteers with no AI [healthy controls (HC)]. Twenty-four-hour circadian cortisol analysis was performed to determine any differences between groups and timing of intervention for cortisol lowering using the 11?-hydroxylase inhibitor metyrapone. Circadian profiles of serum interleukin-6 (IL-6) were assessed.Serum cortisol levels in group AI/ACS were significantly higher than both group AI/NoACS and group HC from 6 pm to 10 pm [area under the curve (AUC) difference: 0.81 nmol/L/h; P = 0.01] and from 10 pm to 2 am (AUC difference: 0.86 nmol/L/h; P < 0.001). In light of these findings, patients with ACS received metyrapone 500 mg at 6 pm and 250 mg at 10 pm, and cortisol rhythms were reassessed. Postintervention evening serum cortisol was lowered, similar to controls [6 pm to 10 pm (AUC difference: -0.06 nmol/L/h; P = 0.85); 10 pm to 2 am (AUC difference: 0.10 nmol/L/h; P = 0.76)]. Salivary cortisone showed analogous changes. IL-6 levels were elevated before treatment [10 pm to 2 pm (AUC difference: 0.42 pg/mL/h; P = 0.01)] and normalized post treatment.In AI/ACS, the evening and nocturnal cortisol exposure is increased. Use of timed evening doses of metyrapone resets the cortisol rhythm to normal. This unique treatment paradigm is associated with a reduction in the cardiovascular risk marker IL-6.
| S-EPMC5587065 | biostudies-literature
Project description:BackgroundPhyllodes tumors are spectrum of tumors ranging from benign to malignant. Malignant spectrum pose a management challenge for clinicians due to high risks of recurrence and metastasis. Malignant phyllodes tumor with brain, lung and adrenal metastases at the same time is rare.Case presentationA 37 years-old unmarried female presented with an ulcerated huge lump in left breast with severe bleeding. Trucut biopsy showed necrosis with spindle cell proliferation with atypia for which she underwent modified radical mastectomy with final diagnosis of malignant phyllodes tumor. Three months after surgery, patient presented with headache, which on further evaluation showed masses in lung, right adrenal and brain.ConclusionWe presented a rare case of malignant phyllodes tumor with clinical, imaging and histological findings with metastases to multiple sites early in course and poor outcome of the patient despite margin negative resection.
| S-EPMC6230968 | biostudies-literature
Project description:To determine the impact of the use of an electronic medical record tool on the evaluation of adrenal incidentalomas.Retrospective chart review was used to compare rates of hormone testing and follow up imaging for adrenal incidentalomas. Patients whose radiology reports contained an algorithm with recommendations, based on our 2013 clinical guideline for the workup of these nodules, were compared to those whose imaging reports did not contain the algorithm.For patients whose Radiology reports contained the algorithm, 69% had hormonal testing versus 43% of controls (p?<?0.0001). By contrast, 57% of study group patients had a follow up imaging study, compared to 51% of controls (p?=?0.1000). However, when the 18% of controls that were given guidance by the radiologist to perform follow-up imaging were excluded from those who received no guidance, there was a statistically significant difference in the rate of follow up imaging (57% vs 48%, p?<?0.0001).Implementation of a clinical algorithm for the evaluation of adrenal incidentalomas in radiology reports and on the intranet site of a major clinical center led to improved rates of hormone testing. There was also a significant increase in the rate of follow up imaging, compared to when no guidance was given. Additional efforts to further improve performance are needed to increase the detection of clinically significant lesions, particularly hormone secreting tumors that should be removed.
| S-EPMC6037878 | biostudies-other