ArticleEndocrinology, diabetes & metabolism case reports2014
Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis.
Article in Endocrinology, diabetes & metabolism case reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma.Clinical case reports · 2026Article
- Diagnosis and grading of adrenal cortical carcinoma.Virchows Archiv : an international journal of pathology · 2026Review
- Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.The Journal of clinical endocrinology and metabolism · 2024Article
- [Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature].Problemy endokrinologii · 2023Review
- Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports.BMC endocrine disorders · 2023Article
- Pediatric adrenocortical carcinoma.Frontiers in endocrinology · 2022Review
- What Did We Learn from the Molecular Biology of Adrenal Cortical Neoplasia? From Histopathology to Translational Genomics.Endocrine pathology · 2021Review
- Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging.Biomedicines · 2021Review
- Adrenocortical carcinoma in a patient with neurofibromatosis type 1: A case report.Caspian journal of internal medicine · 2021Article
- Review
- Simultaneous diagnosis of glioblastoma, cervical schwannoma, adrenal masses and growth hormone-secreting adenoma in a previously healthy patient.BMJ case reports · 2019Article
- Concurrent primary hyperparathyroidism and pheochromocytoma in a Chinese lady with neurofibromatosis type 1.Endocrinology, diabetes & metabolism case reports · 2018Article
- Adrenocortical cancer: mortality, hormone secretion, proliferation and urine steroids - experience from a single centre spanning three decades.BMC endocrine disorders · 2016Article
- Pediatric adrenocortical tumors: what they can tell us on adrenal development and comparison with adult adrenal tumors.Frontiers in endocrinology · 2015Review
- Coincidence of Intracranial Myoepithelioma and Adrenocortical Carcinoma in a Young Man.Asian journal of neurosurgeryArticle
- CO-OCCURRENCE OF ADRENOCORTICAL CARCINOMA AND GASTROINTESTINAL STROMAL TUMOR IN A PATIENT WITH NEUROFIBROMATOSIS TYPE 1 AND A HISTORY OF ENDOMETRIAL CANCER.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledAdrenal 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 (18)flouro 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.