Outcome and long-term follow-up of adrenal lesions in multiple endocrine neoplasia type 1

Ventura, Mara; Melo, Miguel; Carrilho, Francisco

doi:10.20945/2359-3997000000170

Cited by 5 publications

(6 citation statements)

References 22 publications

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“…Historical terms of primary bilateral micronodular or macronodular adrenocortical hyperplasia are no longer used as the nodules are independent clonal proliferations and referred to as bilateral micro-or macro-nodular adrenal cortical disease and classified among benign adrenal cortical tumors [1][2][3][4][5]. Virtually all bilateral micronodular and a significant fraction of bilateral macronodular adrenal cortical diseases are caused by genetic susceptibility [4][5][6][7][8][9][10][11][12][13][14]. These findings have resulted in redefining the clinicopathologic spectrum of adrenal cortical nodular disease.…”

Section: Question 1: Are There Any Nomenclature Changes or Any New Di...mentioning

confidence: 99%

“…Of note, constitutional ARMC5 gene variants are the most commonly reported aberration in this context, occurring in 25-55% of cases [9,10]. Moreover, germline variants in MEN1 (causing the multiple endocrine neoplasia type 1 syndrome) [7,13,91], FH (causing the hereditary leiomyomatosis and renal cell cancer syndrome) [12,92], and APC (causing familial adenomatosis polyposis) [11,12] have also been reported in individuals with bilateral macronodular adrenocortical disease. Moreover, additional somatic and/or germline gene variants have also been identified in a subset of individuals with this condition [5,7,8,12,14,93].…”

Section: Question 4: What Are the Pathological Correlates Of Adrenoco...mentioning

confidence: 99%

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Overview of the 2022 WHO Classification of Adrenal Cortical Tumors

et al. 2022

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The new WHO classification of adrenal cortical proliferations reflects translational advances in the fields of endocrine pathology, oncology and molecular biology. By adopting a question–answer framework, this review highlights advances in knowledge of histological features, ancillary studies, and associated genetic findings that increase the understanding of the adrenal cortex pathologies that are now reflected in the 2022 WHO classification. The pathological correlates of adrenal cortical proliferations include diffuse adrenal cortical hyperplasia, adrenal cortical nodular disease, adrenal cortical adenomas and adrenal cortical carcinomas. Understanding germline susceptibility and the clonal-neoplastic nature of individual adrenal cortical nodules in primary bilateral macronodular adrenal cortical disease, and recognition of the clonal-neoplastic nature of incidentally discovered non-functional subcentimeter benign adrenal cortical nodules has led to redefining the spectrum of adrenal cortical nodular disease. As a consequence, the most significant nomenclature change in the field of adrenal cortical pathology involves the refined classification of adrenal cortical nodular disease which now includes (a) sporadic nodular adrenocortical disease, (b) bilateral micronodular adrenal cortical disease, and (c) bilateral macronodular adrenal cortical disease (formerly known primary bilateral macronodular adrenal cortical hyperplasia). This group of clinicopathological entities are reflected in functional adrenal cortical pathologies. Aldosterone producing cortical lesions can be unifocal or multifocal, and may be bilateral with no imaging-detected nodule(s). Furthermore, not all grossly or radiologically identified adrenal cortical lesions may be the source of aldosterone excess. For this reason, the new WHO classification endorses the nomenclature of the HISTALDO classification which uses CYP11B2 immunohistochemistry to identify functional sites of aldosterone production to help predict the risk of bilateral disease in primary aldosteronism. Adrenal cortical carcinomas are subtyped based on their morphological features to include conventional, oncocytic, myxoid, and sarcomatoid subtypes. Although the classic histopathologic criteria for diagnosing adrenal cortical carcinomas have not changed, the 2022 WHO classification underscores the diagnostic and prognostic impact of angioinvasion (vascular invasion) in these tumors. Microscopic angioinvasion is defined as tumor cells invading through a vessel wall and forming a thrombus/fibrin-tumor complex or intravascular tumor cells admixed with platelet thrombus/fibrin. In addition to well-established Weiss and modified Weiss scoring systems, the new WHO classification also expands on the use of other multiparameter diagnostic algorithms (reticulin algorithm, Lin–Weiss–Bisceglia system, and Helsinki scoring system) to assist the workup of adrenal cortical neoplasms in adults. Accordingly, conventional carcinomas can be assessed using all multiparameter diagnostic scheme...

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Section: Question 1: Are There Any Nomenclature Changes or Any New Di...mentioning

confidence: 99%

Section: Question 4: What Are the Pathological Correlates Of Adrenoco...mentioning

confidence: 99%

Overview of the 2022 WHO Classification of Adrenal Cortical Tumors

et al. 2022

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“…Adrenal lesions have been described in approximately 36% to 73% of patients with MEN1 (28,29). They are usually diagnosed as incidentalomas during radiological screening, and most are nonfunctioning (30). Previous studies have shown that most of these lesions are less than 4 cm in diameter (29,31,32).…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1

Miranda

Valadares²,

Barra³

et al. 2023

Front. Endocrinol.

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ObjectiveMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by its clinical variability and complexity in diagnosis and treatment. We performed both clinical and molecular descriptions of four families with MEN1 in a follow-up at a tertiary center in Brasília.MethodsFrom a preliminary review of approximately 500 medical records of patients with pituitary neuroendocrine tumor (PitNET) from the database of the Neuroendocrinology Outpatient Clinic of the University Hospital of Brasília, a total of 135 patients met the criteria of at least two affected family members. From this cohort, we have identified 34 families: only four with a phenotype of MEN1 and the other 30 families with the phenotype of familial isolated pituitary adenoma (FIPA). Eleven patients with a clinical diagnosis of MEN1 from these four families were selected.ResultsVariants in MEN1 gene were identified in all families. One individual from each family underwent genetic testing using targeted high-throughput sequencing (HTS). All patients had primary hyperparathyroidism (PHPT), and the second most common manifestation was PitNET. One individual had well-differentiated liposarcoma, which has been previously reported in a single case of MEN1. Three variants previously described in the database and a novel variant in exon 2 have been found.ConclusionsThe study allowed the genotypic and phenotypic characterization of families with MEN1 in a follow-up at a tertiary center in Brasília.

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“…While most patients diagnosed with MEN inherit the condition as an autosomal dominant trait, sporadic cases can occur even without family history. Adrenal lesions have been reported in about 36-73% of MEN1 patients, while the majority of adrenal tumours have been reported as nonhyperfunctioning (1). The objective of the present study was to report on a MEN1 case characterized by primary aldosteronism, with particular concern on the possible predisposing genetic defects.…”

Section: Introductionmentioning

confidence: 97%

“…Multiple endocrine neoplasia (MEN) is a group of syndromes with a genetic predisposition to the appearance of endocrine tumors, and shows autosomal dominant transmission, mainly involving the parathyroid gland, pancreatic islets and pituitary gland. It is a rare disease, with an estimated prevalence of one in 30 000 individuals and a high penetrance and an equal sex distribution (1). The types of MEN mainly include MEN-1, MEN-2, and MEN-4, depending on the speci c endocrine glands affected and the involved gene mutations.…”

Section: Introductionmentioning

confidence: 99%

A Rare Presentation of multiple endocrine neoplasia with Concurrent Aldosterone-Producing Adrenal Adenoma: a case report

Liu,

Zeng,

Wang

et al. 2024

Preprint

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Background Multiple endocrine neoplasia type 1 (MEN1) is a disorder characterized by the occurrence of tumours in two or more endocrine glands of a patient. Coexistence of different endocrine tumors warrants additional screening for multiple endocrine neoplasia syndromes, especially in patients with adrenal apparent adenoma. Case presentation We present the case of a 52-year-old male was admitted to Army Specialty Medical Center because of neck pain that had persisted for 4 months and aggravated muscle pain for 3 days. After admission, the patient showed hypertension and hypokalemia. The plasma aldosterone levels increased, and the renin levels decreased. Adrenal contrast-enhanced CT showed a nodule shadow on the left external branch of the adrenal gland, suggesting the possibility of adrenal adenoma. Other imaging examination suggested that the patient had thyroid nodules, parathyroid nodules, pituitary microadenomasm. The adrenal vein sampling (AVS) results indicated dominant secretion from the left adrenal gland. The patient was diagnosed as: 1. Primary aldosteronism-induced hypertension; 2. multiple endocrine neoplasia; 3. rhabdomyolysis; 4. hyperlipidemia; 5. fatty liver disease; 6. lumbar disc herniation; 7. fascia inflammation of the lower back. The Whole-exome sequencing of the peripheral blood from the patient showed the heterozygous variant of the genes CACNA1D and MYH8. The patient was performed left adrenal resection surgery in the Urology Department. Postoperative pathological specimen examination suggested a (left adrenal tumor) cortical adenoma. He achieved complete biochemical success and partial clinical success. Conclusions Our findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new heterozygous variant of the genes CACNA1D and MYH8, at least in the rare subset of MEN1 associated with primary aldosteronism.

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Outcome and long-term follow-up of adrenal lesions in multiple endocrine neoplasia type 1

Cited by 5 publications

References 22 publications

Overview of the 2022 WHO Classification of Adrenal Cortical Tumors

Overview of the 2022 WHO Classification of Adrenal Cortical Tumors

Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1

A Rare Presentation of multiple endocrine neoplasia with Concurrent Aldosterone-Producing Adrenal Adenoma: a case report

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