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Biomedicines Nov 2023Our aim is to update the topic of adrenal tumours (ATs) in congenital adrenal hyperplasia (CAH) based on a multidisciplinary, clinical perspective via an endocrine... (Review)
Review
Our aim is to update the topic of adrenal tumours (ATs) in congenital adrenal hyperplasia (CAH) based on a multidisciplinary, clinical perspective via an endocrine approach. This narrative review is based on a PubMed search of full-length, English articles between January 2014 and July 2023. We included 52 original papers: 9 studies, 8 case series, and 35 single case reports. Firstly, we introduce a case-based analysis of 59 CAH-ATs cases with four types of enzymatic defects (CYP21A2, CYP17A1, CYP17B1, and HSD3B2). Secondarily, we analysed prevalence studies; their sample size varied from 53 to 26,000 individuals. AT prevalence among CAH was of 13.3-20%. CAH prevalence among individuals with previous imaging diagnosis of AT was of 0.3-3.6%. Overall, this 10-year, sample-based analysis represents one of the most complex studies in the area of CAH-ATs so far. These masses should be taken into consideration. They may reach impressive sizes of up to 30-40 cm, with compressive effects. Adrenalectomy was chosen based on an individual multidisciplinary decision. Many tumours are detected in subjects with a poor disease control, or they represent the first step toward CAH identification. We noted a left lateralization with a less clear pathogenic explanation. The most frequent tumour remains myelolipoma. The risk of adrenocortical carcinoma should not be overlooked. Noting the increasing prevalence of adrenal incidentalomas, CAH testing might be indicated to identify non-classical forms of CAH.
PubMed: 38002081
DOI: 10.3390/biomedicines11113081 -
American Journal of Clinical Pathology Oct 2018To report the presence and evaluate the frequency of plasma cell neoplasms within adrenal myelolipomas. (Review)
Review
OBJECTIVES
To report the presence and evaluate the frequency of plasma cell neoplasms within adrenal myelolipomas.
METHODS
Adrenal myelolipomas within our institution were reviewed for the presence of hematologic neoplasia, and a review of the literature was performed.
RESULTS
Two (9%) of 23 adrenal myelolipomas were involved by plasma cell myeloma. The patients were 71 and 81 years old, one woman and one man, with tumors measuring 7 cm and 8.5 cm, respectively. Both tumors contained large aggregates of dysplastic plasma cells occupying at least one ×10 field and demonstrated light chain restriction. Neither had an established diagnosis of plasma cell neoplasm previously. After receiving therapy, one patient exhibited a stable clinical course 1 year after diagnosis while the other died of disease 3 years later.
CONCLUSIONS
We report the first two cases of adrenal myelolipoma involved by plasma cell myeloma, a rare and subtle finding that has significant clinical implications.
Topics: Adrenal Gland Neoplasms; Adrenal Glands; Aged; Aged, 80 and over; Female; Hematologic Neoplasms; Humans; Immunohistochemistry; In Situ Hybridization; Male; Multiple Myeloma; Myelolipoma; Plasma Cells
PubMed: 30052719
DOI: 10.1093/ajcp/aqy068 -
Clinical Radiology Nov 2014Chemical shift (CS) MRI of the adrenal glands exploits the different precessional frequencies of fat and water protons to differentiate the intracytoplasmic... (Review)
Review
Chemical shift (CS) MRI of the adrenal glands exploits the different precessional frequencies of fat and water protons to differentiate the intracytoplasmic lipid-containing adrenal adenoma from other adrenal lesions. The purpose of this review is to illustrate both technical and interpretive pitfalls of adrenal imaging with CS MRI and emphasize the importance of adherence to strict technical specifications and errors that may occur when other imaging features and clinical factors are not incorporated into the diagnosis. When performed properly, the specificity of CS MRI for the diagnosis of adrenal adenoma is over 90%. Sampling the in-phase and opposed-phase echoes in the correct order and during the same breath-hold are essential requirements, and using the first echo pair is preferred, if possible. CS MRI characterizes more adrenal adenomas then unenhanced CT but may be non-diagnostic in a proportion of lipid-poor adenomas; CT washout studies may be able to diagnose these lipid-poor adenomas. Other primary and secondary adrenal tumours and supra-renal disease entities may contain lipid or gross fat and mimic adenoma or myelolipoma. Heterogeneity within an adrenal lesion that contains intracytoplasmic lipid could be due to myelolipoma, lipomatous metaplasia of adenoma, or collision tumour. Correlation with previous imaging, other imaging features, clinical history, and laboratory investigations can minimize interpretive errors.
Topics: Adrenal Gland Diseases; Adrenal Gland Neoplasms; Adrenal Glands; Adrenocortical Adenoma; Artifacts; Contrast Media; Diagnosis, Differential; Humans; Image Enhancement; Image Interpretation, Computer-Assisted; Incidental Findings; Magnetic Resonance Imaging
PubMed: 25062926
DOI: 10.1016/j.crad.2014.06.020 -
AACE Clinical Case Reports 2021
PubMed: 34765738
DOI: 10.1016/j.aace.2021.04.001 -
Indian Journal of Endocrinology and... 2020Adrenal myelolipomas are nonfunctional tumors that are usually asymptomatic; however, they have been known to coexist with other endocrine disorders, such as Cushing's...
Adrenal myelolipomas are nonfunctional tumors that are usually asymptomatic; however, they have been known to coexist with other endocrine disorders, such as Cushing's syndrome, congenital adrenal hyperplasia (CAH), Conn's syndrome, and pheochromocytoma. We report a case of a 49-year-old man with hypertension and diabetes mellitus who complained of chronic abdominal pain, vomiting, and early satiety. Preoperative contrast-enhanced computerized tomography (CECT) was performed, and adrenal myelolipoma was considered, lab investigations revealed a nonfunctional tumor. CECT also revealed bilateral renal cortical cyst, right renal calculi, and hepatic cyst. A left open cortical sparing adrenalectomy was performed, pathological examination confirmed the diagnosis, and a radiological surveillance was planned for the right tumor. Four years following this, the patient came back with a similar presentation. Right adrenalectomy was performed after preoperative workup, and subsequently steroid replacement therapy was initiated. We suggest adequate follow-up of a patient presenting with adrenal myelolipoma and to explore the possibility of establishing a syndromic diagnosis such as autosomal dominant polycystic kidney disease (ADPKD).
PubMed: 33643873
DOI: 10.4103/ijem.IJEM_737_20 -
European Journal of Endocrinology Mar 2023Thirty years ago, we identified that cortisol secretion in some patients with unilateral adenoma or primary bilateral macronodular adrenal hyperplasia (PBMAH) was...
Thirty years ago, we identified that cortisol secretion in some patients with unilateral adenoma or primary bilateral macronodular adrenal hyperplasia (PBMAH) was stimulated by food intake; this was secondary to the abnormal adrenocortical responsiveness to physiological post-prandial increase in glucose-dependent insulinotropic peptide (GIP). This resulted from the ectopic expression of non-mutated GIP receptor in the pathological adrenal tissues of those patients. Although ectopic GIP receptor (GIPR) was confirmed in a relatively limited number of cases to date, its elucidation leads to the identification of a wide diversity of aberrant G-protein-coupled receptors regulating steroidogenesis and cell proliferation in a high proportion of patients with PBMAH or cortisol-secreting adenomas. In addition, ectopic GIPR was identified in other endocrine tumors including somatotroph pituitary tumors with paradoxical growth hormone response to oral glucose, medullary thyroid carcinomas, and other neuroendocrine tumors. The first molecular pathogenic mechanism responsible for ectopic GIPR expression was elucidated in unilateral GIP-dependent adenomas in which somatic duplication and rearrangements in chromosome region 19q13.32 containing the GIPR locus lead to increased expression of GIPR which was enhanced by the activity of a glucocorticoid response element. Recently, germline lysine demythylase 1A (KDMIA) mutations combined with somatic chromosome 1p deletions were found to be specifically responsible for ectopic GIPR in sporadic or familial GIP-dependent PBMAH and can be associated with adrenal myelolipoma, monoclonal gammopathy of unknown significance (MGUS), or multiple myeloma. Screening for ectopic GIPR should be conducted in all patients with PBMAH; genetic studies to identify KDM1A mutations should be offered to such patients in order to detect affected members and provide early detection of PBMAH and other potential associated neoplasias. The elucidation of GIP-dependent Cushing's syndrome (CS) illustrates that careful bedside phenotyping of rare conditions can lead to identification of genetically determined diseases requiring personalized approaches to investigation and therapy.
Topics: Humans; Cushing Syndrome; Gastric Inhibitory Polypeptide; Hydrocortisone; Adrenal Glands; Adenoma; Histone Demethylases
PubMed: 36857084
DOI: 10.1093/ejendo/lvad026 -
Cancer Management and Research 2018Adrenal myelolipoma with hyperandrogenemia is extremely rare. We report a case of a 26-year-old Chinese female with schizophrenia, who presented with a hormonally active...
Adrenal myelolipoma with hyperandrogenemia is extremely rare. We report a case of a 26-year-old Chinese female with schizophrenia, who presented with a hormonally active tumor causing hyperandrogenemia. The mass was found by computerized tomography when she had her gynecologic examination for secondary amenorrhea, and it was confirmed to be an adrenal myelolipoma after a histopathological study. She was referred for a left adrenal laparoscopic excision, and the size of adrenal myelolipoma was found to be more than 10 cm. We report this case because large adrenal myelolipomas with hyperandrogenemia and schizophrenia are rare, and adrenal myelolipoma associated with hyperandrogenemia might be determined by the enzymes involved in the production of hormones.
PubMed: 29440927
DOI: 10.2147/CMAR.S145332 -
The American Journal of Case Reports May 2022BACKGROUND Myelolipoma is a benign tumor, commonly found in the supra-renal gland, which is composed of mature fatty tissue admixed with hematopoietic elements. However,... (Review)
Review
BACKGROUND Myelolipoma is a benign tumor, commonly found in the supra-renal gland, which is composed of mature fatty tissue admixed with hematopoietic elements. However, there are several extra-adrenal sites reported in the literature and thoracic myelolipoma is an unusual location for extra-adrenal myelolipoma. CASE REPORT We present the case of a 71-year-old man previously diagnosed with hypertension who was admitted due to a motor vehicle injury with a lumbar spine fracture. The patient developed non-ST segment elevation myocardial infarction during admission. A coronary angiogram revealed three-vessel disease. Triple coronary artery bypass grafting (CABG) surgery was planned. Upon opening the chest through median sternotomy, a retrosternal adherent mass was incidentally discovered. The mass was excised and histopathological evaluation showed it was myelolipoma in the anterior part of the mediastinum. CONCLUSIONS It is well known that myelolipoma occurs in extra-adrenal sites, and is rarely found at unexpected site, as in our case, which was found incidentally at the anterior mediastinum. With an extensive literature review, we found only 1 case located in the anterior mediastinum. It is crucial to know that myelolipoma can occur in the anterior mediastinum to avoid pitfalls with other differential diagnoses, especially when it is found incidentally and requires a frozen section examination, as it is difficult to diagnose through radiologic imaging only because it can overlap with tumors that are rich in either adipose tissue or hematopoietic elements. However, it affects patient management, and patients usually need only follow-up instead of going through invasive procedures for resection of non-functional tumors, especially in older patients or patients with comorbid diseases.
Topics: Adipose Tissue; Adrenal Gland Neoplasms; Aged; Diagnosis, Differential; Humans; Male; Mediastinum; Myelolipoma
PubMed: 35614634
DOI: 10.12659/AJCR.936005 -
Abdominal Radiology (New York) Aug 2021The detection rates of adrenal masses are increasing with the common and widespread use of cross-sectional imaging. Adrenal adenomas, myelolipomas, metastases,... (Review)
Review
The detection rates of adrenal masses are increasing with the common and widespread use of cross-sectional imaging. Adrenal adenomas, myelolipomas, metastases, pheochromocytomas, and adrenocortical tumors are well-known and relatively common adrenal tumors. However, there are many less-known neoplastic and nonneoplastic adrenal diseases that might affect the adrenal glands in addition to these common lesions. These rare entities include, but are not limited to, hydatid cysts, congenital adrenal hyperplasia, Wolman disease, adrenal tuberculosis, primary adrenal lymphoma. This article aims to present imaging findings of these unusual lesions in accordance with their pathologic characteristics. We think that the simultaneous presentation of the pathological findings with the imaging features may facilitate the learning process and may potentially enhance the recognition of these entities.
Topics: Adrenal Cortex Neoplasms; Adrenal Gland Neoplasms; Adrenal Glands; Adrenocortical Adenoma; Diagnostic Imaging; Humans
PubMed: 33738556
DOI: 10.1007/s00261-021-03041-8 -
Turkish Journal of Surgery 2017Myelolipomas are rare benign tumors often detected as adrenal masses. Extra-adrenal myelolipomas are encountered even more rarely. The rate of detection of these lesions...
Myelolipomas are rare benign tumors often detected as adrenal masses. Extra-adrenal myelolipomas are encountered even more rarely. The rate of detection of these lesions is increasing with improved radiological techniques. Because of their localization and morphological similarities to well differentiated liposarcomas, extra-adrenal myelolipomas need to be differentiated from other aggressive neoplasms. Preoperative imaging and percutaneous biopsy are important tools in the diagnosis of these lesions. We report a very rare case of an extra-adrenal perirenal myelolipoma associated with hemolytic anemia. The etiology, differential diagnosis, and treatment options for the lesion have been discussed. Fat-containing tumors of the retroperitoneum should be considered in the differential diagnosis. Accurate diagnosis is important to avoid over-treatment of these benign lesions.
PubMed: 28740963
DOI: 10.5152/UCD.2015.2983