Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017

Gupta, Nidhi; Rivera, Michael; Novotny, Paul J.; Rodriguez, Vilmarie; Bancos, Irina; Lteif, Aida

doi:10.1159/000488855

Cited by 64 publications

(107 citation statements)

References 36 publications

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“…Pediatric adrenocortical tumors (ACTs) include both benign adrenocortical adenomas (ACA) and highly aggressive adrenocortical carcinomas (ACC). They are very rare neoplasms of childhood, with a reported incidence of just 0.2-0.3 new cases per 1 million children per year (1,2) and accounting for 6% of all adrenal cancers in children (3). ACC incidence rises of 10-15 times the worldwide rate in Southern Brazil, which is likely associated with high prevalence of the founder p.R337H TP53 mutation (4).…”

Section: Introductionmentioning

confidence: 99%

“…Pediatric ACC patients generally have overall 5-year survival ranging from 30 to 70%, depending on disease presentation ( 6 – 8 ). Despite multimodal therapeutic approaches, outcomes remain poor in patients with metastatic disease, with an estimated 5-year survival <20% ( 1 , 2 , 7 , 9 – 11 ). No effective therapy is currently available for advanced and metastatic ACC; the only treatment leading to cure and long-term survival remains complete surgical resection ( 6 , 7 ).…”

Section: Introductionmentioning

confidence: 99%

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Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience

et al. 2020

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Background and Aims: Pediatric adrenocortical tumors (ACTs) are very rare endocrine neoplasms in childhood. In this study, we performed a retrospective analysis of children with ACT treated at our institution by examining clinical and genetic disease features, treatment strategies, and outcomes. Methods: We retrospectively analyzed a cohort of 13 children treated at the Bambino Gesù Children's Hospital from November 2010 to March 2020. Results: The median age at diagnosis was 17 months (range = 0-82 months). The female: male ratio was 3.3/1. Mixed symptomatology (>1 hormone abnormality) was the most common presentation (46.1%). In three cases, the tumor was detected during prenatal or perinatal echographic screening. All patients presented with localized disease at diagnosis and underwent total adrenalectomy. Six patients were identified as having malignancies according to the Wieneke scoring system, five benign, and two undetermined. Seven patients underwent mitotane adjuvant therapy for 12 months. There was metastatic disease in three patients, with no correlation with age or Wieneke score. The most common sites of metastases were the liver and lungs. Metastatic patients were treated with surgery (n = 2), mitotane (n = 1), chemotherapy (n = 2) associated with anti-EGFR (n = 1), or immunotherapy with anti-PD1 (pembrolizumab) (n = 1); two patients achieved complete disease remission. Overall 2-and 5-year survival rates were 100%, with a median follow-up of 5 years (range = 2-9.5 years). Two-and 5-year disease free survival was 76.9 and 84.6%, respectively (95% confidence interval = −66.78-114.76 months). All patients are alive, 12 without disease, and one with stable disease. Genetic analyses showed TP53 germline mutations in six of eight patients analyzed (five inherited, one de novo). One patient had Beckwith-Wiedemann syndrome, with mosaic paternal uniparental disomy of chromosome 11, in both neoplastic and healthy adrenal tissue. Miele et al. Adrenocortical Tumors in Children Conclusion: We report the cases of 13 patients treated for ACT, including 12 aged <4 years at diagnosis, with a relative short time from symptoms onset. Our cohort experienced an excellent prognosis. TP53 mutation was found in 75% of tested patients (6/8) confirming the need to perform genetic tests and familial counseling in this disease.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience

et al. 2020

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“…More specifically, the highest incidence rate was noted among children aged <10 years in the south region (4 cases per 1 million). It is difficult to find definite histopathological criteria to differentiate adrenocortical carcinoma from adrenocortical adenoma, and the histopathological classification of adrenocortical carcinoma in pediatric patients remains controversial . Unfortunately, in the current study, we did not have data regarding outcome, clinical characteristics, or pathological analysis.…”

Section: Discussionmentioning

confidence: 83%

“…It is difficult to find definite histopathological criteria to differentiate adrenocortical carcinoma from adrenocortical adenoma, and the histopathological classification of adrenocortical carcinoma in pediatric patients remains controversial. 8,19 Unfortunately, in the current study, we did not have data regarding outcome, clinical characteristics, or pathological analysis. However, this is the first analysis, and the next steps will be to develop follow-up for these patients and revise the pathological reports from the PBCRs to improve the quality of registration and pathological reports.…”

Section: Discussionmentioning

confidence: 94%

Rare cancers in childhood and adolescence in Brazil: First report of data from 19 population‐based cancer registries

Balmant

Reis²,

Santos

et al. 2019

Cancer

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Background Rare childhood cancer is challenging to define. The Italian Pediatric Rare Tumor (TREP) Study considers rare tumors to include solid malignancies characterized by an annual incidence rate of <2 cases per 1 million and not enrolled in clinical trials. The objective of the current study was to analyze the population incidence rate of rare tumors among children and adolescents (those aged birth‐19 years) in Brazil. Methods Incidence data were obtained from 19 population‐based cancer registries covering the 5 geographic regions in Brazil. Newly diagnosed cases were selected according to the TREP definition, using the International Classification of Diseases for Oncology. To calculate the crude incidence rate, the numbers of incident children and adolescents with a specific rare cancer were divided by the corresponding person‐years lived for the population aged <20 years during the same period. Results Two tumors had an incidence rate that was >2 cases per 1 million (thyroid and skin cancers) in adolescents only. Several tumors demonstrated variations in incidence across the Brazilian regions. Adrenocortical carcinoma had a high incidence rate (4 cases per 1 million) in the south region among children aged <10 years. Thyroid and skin carcinoma had higher incidence rates in the midwest, southeast, and south regions. Conclusions Due to the extraordinary rarity of these events, networking is important for improving basic research, clinical studies, and trials. Centralization of diagnosis is the only way to improve the diagnosis and treatment of children affected by these rare diseases. The registration and surveillance of rare pediatric cancers are crucial from a public health point of view, and therefore the quality of registration has to be improved.

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“…In the vast majority of affected pre-pubertal children, PA is the underlying diagnosis, whereas adolescent polycystic ovary syndrome (PCOS) is the leading cause of androgen excess in pubertal girls after menarche (1, 2, 4). Importantly, the diagnosis of PA and PCOS require exclusion of other causes of androgen excess such as inborn steroidogenic enzyme defects, most commonly congenital adrenal hyperplasia (CAH), precocious puberty or potentially malignant virilizing adrenal tumors, with the latter being extremely rare in childhood (1, 5, 6).…”

Section: Introductionmentioning

confidence: 99%

Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children

Idkowiak

Elhassan

Mannion

et al. 2019

European Journal of Endocrinology

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ObjectiveAndrogen excess in childhood is a common presentation and may signify sinister underlying pathology. Data describing its patterns and severity are scarce, limiting the information available for clinical decision processes. Here, we examined the differential diagnostic value of serum DHEAS, androstenedione (A4) and testosterone in childhood androgen excess.DesignRetrospective review of all children undergoing serum androgen measurement at a single center over 5 years.MethodsSerum A4 and testosterone were measured by tandem mass spectrometry and DHEAS by immunoassay. Patients with at least one increased androgen underwent phenotyping by clinical notes review.ResultsIn 487 children with simultaneous DHEAS, A4 and testosterone measurements, we identified 199 with androgen excess (140 pre- and 59 post-pubertal). Premature adrenarche (PA) was the most common pre-pubertal diagnosis (61%), characterized by DHEAS excess in 85%, while A4 and testosterone were only increased in 26 and 9% respectively. PCOS was diagnosed in 40% of post-pubertal subjects, presenting equally frequent with isolated excess of DHEAS (29%) or testosterone (25%) or increases in both A4 and testosterone (25%). CAH patients (6%) predominantly had A4 excess (86%); testosterone and DHEAS were increased in 50 and 33% respectively. Concentrations increased above the two-fold upper limit of normal were mostly observed in PA for serum DHEAS (>20-fold in the single case of adrenocortical carcinoma) and in CAH for serum androstenedione.ConclusionsPatterns and severity of childhood androgen excess provide pointers to the underlying diagnosis and can be used to guide further investigations.

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Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017

Cited by 64 publications

References 36 publications

Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience

Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience

Rare cancers in childhood and adolescence in Brazil: First report of data from 19 population‐based cancer registries

Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children

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