Pediatric Adrenal Cortical Carcinoma: Brain Metastases and Relationship to NF-1, Case Reports and Review of the Literature

Wagner, Aaron S.; Fleitz, Julie; Kleinschmidt-DeMasters, B.K.

doi:10.1007/s11060-005-0376-z

Cited by 35 publications

(20 citation statements)

References 23 publications

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“…In 2005, Wagner et al . (12) reported the case of a 3-year-old girl with NF1 and ACC. She had a paraspinal metastasis and presented with the clinical features of cortisol and androgen excess.…”

Section: Discussionmentioning

confidence: 99%

Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis

Menon

Ferraú

Kurzawinski

et al. 2014

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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SummaryAdrenal cortical carcinoma (ACC) has previously only been reported in eight patients with type 1 neurofibromatosis (NF1). There has not been any clear evidence of a causal association between NF1 gene mutations and adrenocortical malignancy development. We report the case of a 49-year-old female, with no family history of endocrinopathy, who was diagnosed with ACC on the background of NF1, due to a novel germline frame shift mutation (c.5452_5453delAT) in exon 37 of the NF1 gene. A left adrenal mass was detected by ultrasound and characterised by contrast computerised tomography (CT) scan. Biochemical tests showed mild hypercortisolism and androgen excess. A 24-h urinary steroid profile and 18flouro deoxy glucose PET suggested ACC. An open adrenalectomy was performed and histology confirmed ACC. This is the first reported case with DNA analysis, which demonstrated the loss of heterozygosity (LOH) at the NF1 locus in the adrenal cancer, supporting the hypothesis of an involvement of the NF1 gene in the pathogenesis of ACC. LOH analysis of the tumour suggests that the loss of neurofibromin in the adrenal cells may lead to tumour formation.Learning points ACC is rare but should be considered in a patient with NF1 and adrenal mass when plasma metanephrines are normal.Urinary steroid metabolites and PET/CT are helpful in supporting evidence for ACC.The LOH at the NF1 region of the adrenal tumour supports the role of loss of neurofibromin in the development of ACC.

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Section: Discussionmentioning

confidence: 99%

Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis

Menon

Ferraú

Kurzawinski

et al. 2014

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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“…Routine screening for Lynch syndrome in ACC tumors by immunohistochemistry may be warranted regardless of family history. There are several reports of ACCs in patients with familial adenomatous polyposis (FAP), neurofibromatosis type 1, and Werner syndrome (63)(64)(65)(66)(67)(68)(69)(70)(71)(72). Most recently, ACC has also been reported in 2 cases of patients with Carney complex (73,74).…”

Section: Genetic Predispositionmentioning

confidence: 99%

Adrenocortical Carcinoma

et al. 2013

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Adrenocortical carcinoma (ACC) is a rare endocrine malignancy, often with an unfavorable prognosis. Here we summarize the knowledge about diagnosis, epidemiology, pathophysiology, and therapy of ACC. Over recent years, multidisciplinary clinics have formed and the first international treatment trials have been conducted. This review focuses on evidence gained from recent basic science and clinical research and provides perspectives from the experience of a large multidisciplinary clinic dedicated to the care of patients with ACC.

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“…In addition to the above mentioned syndromes, ACC has been reported in 4 patients with neurofibromatosis type 1 (NF1), of which at least 2 were children diagnosed at a very early age (Fienman et al 1970; Sorensen et al 1986; Wagner et al 2005). No gene testing has been reported in these patients, raising the possibility of another syndrome, phenocopying NF1, such as homozygozity for gene mutations causing hereditary non-polyposis colon cancer (HNPCC).…”

Section: Genetic Syndromes Associated With Adrenocortical Carcinomamentioning

confidence: 99%

Association of adrenocortical carcinoma with familial cancer susceptibility syndromes

Else

2012

Molecular and Cellular Endocrinology

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Our knowledge about inherited susceptibility to adrenocortical carcinoma (ACC) almost exclusively stems from experiences with familial cancer susceptibility syndromes, which are caused by single gene mutations (e.g. Li-Fraumeni syndrome (LFS)). Population-based studies are largely unavailable. ACC diagnosed during childhood is known to be commonly part of hereditary cancer syndromes. Childhood ACC is part of the classical tumor spectrum of LFS and Beckwith-Wiedemann syndrome (BWS). In adults ACC has been reported in patients with multiple endocrine neoplasia (MEN1), familial adenomatous polyposis coli (FAP) and neurofibromatosis type 1 (NF1). However, the evidence associating ACC with these syndromes is less well substantiated. Here, we will review the evidence for genetic predisposition in general and the association with known familial cancer susceptibility syndromes in particular. We will also review current recommendations regarding screening and surveillance of these patients as they apply to a specialized ACC or endocrine cancer clinic.

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Pediatric Adrenal Cortical Carcinoma: Brain Metastases and Relationship to NF-1, Case Reports and Review of the Literature

Cited by 35 publications

References 23 publications

Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis

Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis

Adrenocortical Carcinoma

Association of adrenocortical carcinoma with familial cancer susceptibility syndromes

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