Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report

Kim, Sung Eun; Lee, Na Young; Cho, Won Kyung; Yim, Jisook; Lee, Jae Woo; Kim, Myungshin; Jung, Jae Hee; Jung, Min Ho; Suh, Byung‐Kyu; Ahn, Myeong Im

doi:10.6065/apem.2142100.050

Cited by 4 publications

(3 citation statements)

References 20 publications

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“…Adrenal involvement is present in 10% of patients, and 1.4% of MEN1 cases develop adrenocortical carcinoma [27]. In approximately 6% of cases, adrenal involvement is the initial manifestation of MEN1 [27,28]. The majority of adrenocortical tumors in this condition are non-functional, although adrenocortical hormone excess is observed in 15% of MEN1 patients.…”

Section: Multiple Endocrine Neoplasia Type 1 Andmentioning

confidence: 99%

Overview of endocrine tumor syndromes manifesting as adrenal tumors

Kim

2024

Ewha Med J

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Endocrine tumor syndromes constitute a group of disorders characterized by tumors in hormoneproducing tissues. These conditions predominantly affect younger patients and often have a familial inheritance. Advances in molecular genetics in recent decades have facilitated the identification of several genes associated with these tumors. The recent World Health Organization classification of adrenocortical tumors integrates the latest developments in pathology, oncology, and molecular biology. In addition, this updated classification includes adrenal cortical diseases based on an understanding of germline susceptibility to these conditions and their clonal-neoplastic nature. Catecholamine-secreting tumors, including pheochromocytoma and paraganglioma, have been found to have a genetic predisposition in as many as 80% of cases. Compared to sporadic cases, endocrine tumor syndromes are more likely to present bilaterally and show synchronous or metachronous disease. This highlights the critical need for early diagnosis, intervention, and ongoing surveillance. This review focuses on the clinical manifestations and genetic basis of endocrine tumor syndromes originating from the adrenal glands.

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Section: Multiple Endocrine Neoplasia Type 1 Andmentioning

confidence: 99%

Overview of endocrine tumor syndromes manifesting as adrenal tumors

Kim

2024

Ewha Med J

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“…There have been some studies on the clinical and molecular characteristics of adrenal tumors in children and adolescents [9,10,12,[15][16][17][18][19]. However, these studies included small numbers of patients, and the follow-up was only for a limited duration.…”

Section: Clinical Characteristics and Long-term Outcomes Of Adrenal T...mentioning

confidence: 99%

“…The 18F-fluorodeoxyglucose ( 18 F-FDG)-positron emission tomography (PET) scan (n = 5), whole-body MRI (n = 2), or bone scan (n = 5) were used to determine tumor characteristics and staging in patients with ACTs. Iodine-123 ( 123 I)-MIBG-single photon emission computed tomography (SPECT) (n = 8) was performed in patients with PHEO and PGL to determine tumor characteristics and metastasis, and for staging, an 18 F-FDG-PET scan was carried out in two patients.…”

Section: Endocrine and Radiological Investigationsmentioning

confidence: 99%

Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents

Kim

Choi

Hwang

et al. 2023

Exp Clin Endocrinol Diabetes

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Objective: Adrenal tumors are generally rare in children and can be a part of familial cancer syndrome. This research was conducted to examine the clinical outcomes, histopathological results, and genetic etiologies of adrenal tumors in children and adolescents. Methods: This research included 31 children and adolescents with adrenal tumors. Data on clinical outcomes and endocrine and radiologic results were retrospectively analyzed. Molecular analysis was conducted in select patients according to their phenotype and family history. Results: The median age at diagnosis was 7.9 years (range, 0.8−17.8 years) with 5.1 ± 1.8 cm of maximum tumor diameter. Adrenal adenoma (n = 7), carcinoma (n = 5), borderline (n = 2), isolated micronodular adrenocortical disease (n = 2), pheochromocytoma (n = 8), paraganglioma (n = 3), and ganglioneuroma (n = 4) are all pathological diagnoses. The most common presenting symptom was excesses of adrenocortical hormones (n = 15), including virilization and Cushing syndrome. Nonfunctioning adrenocortical tumors were found in a patient with congenital adrenal hyperplasia. Genetic etiologies were identified in TP53 (n = 5), VHL (n = 4), and PRKACA (n = 1). Patients with mutations in TP53 were young (1.5 ± 0.5 years) and had large masses (6.1 ± 2.3 cm). Conclusions: This study described clinical outcomes and the pathological spectrum in adrenal tumors in children and adolescents. Adrenocortical tumors mostly presented with an excess of the adrenocortical hormone. Patients with genetic defects presented at a young age and large size of tumors, necessitating genetic testing in patients at a young age.

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Pediatric Endocrine Hypertension Related to the Adrenal Glands

Kim,

Kim

2023

Ewha Med J

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Endocrine causes of pediatric hypertension are relatively rare but important because of their distinct treatment options. Adrenal diseases accompanied by an excess of mineralocorticoids, glucocorticoids, and catecholamines are major causes of endocrine hypertension. Typical causes of mineralocorticoidrelated hypertension include primary aldosteronism, congenital adrenal hyperplasia (11β-and 17 α-hydroxylase deficiencies), and apparent mineralocorticoid excess. Cushing syndrome and pheochromocytoma/paraganglioma are the primary causes of glucocorticoid-and catecholaminerelated hypertension, respectively. This review provides an overview of the diagnostic evaluations, including hormonal assays and imaging studies, used to identify the underlying causes of pediatric endocrine hypertension, focusing on adrenal disorders. It presents details regarding the major adrenal disorders and recommended therapeutic approaches, emphasizing the importance of early detection and disease-specific management to prevent cardiovascular and metabolic complications in affected children.

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Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report

Cited by 4 publications

References 20 publications

Overview of endocrine tumor syndromes manifesting as adrenal tumors

Overview of endocrine tumor syndromes manifesting as adrenal tumors

Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents

Pediatric Endocrine Hypertension Related to the Adrenal Glands

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