{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:10:31Z","timestamp":1790471431456,"version":"4.1.0"},"reference-count":26,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2014,11,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Adrenal 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\n                    <jats:italic>NF1<\/jats:italic>\n                    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\n                    <jats:italic>NF1<\/jats:italic>\n                    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\n                    <jats:sup>18<\/jats:sup>\n                    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\n                    <jats:italic>NF1<\/jats:italic>\n                    locus in the adrenal cancer, supporting the hypothesis of an involvement of the\n                    <jats:italic>NF1<\/jats:italic>\n                    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.\n                  <\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>ACC is rare but should be considered in a patient with NF1 and adrenal mass when plasma metanephrines are normal.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Urinary steroid metabolites and PET\/CT are helpful in supporting evidence for ACC.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>\n                            The LOH at the\n                            <jats:italic>NF1<\/jats:italic>\n                            region of the adrenal tumour supports the role of loss of neurofibromin in the development of ACC.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/edm-14-0074","type":"journal-article","created":{"date-parts":[[2015,1,19]],"date-time":"2015-01-19T06:23:36Z","timestamp":1421648616000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":15,"title":["Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis"],"prefix":"10.1530","volume":"2014","author":[{"given":"Ravi Kumar","family":"Menon","sequence":"first","affiliation":[{"name":"1 Department of Endocrinology, University College Hospital NHS Foundation Trust, NW1 2PG London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Ferrau","sequence":"additional","affiliation":[{"name":"2 Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, EC1A 7BE London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom R","family":"Kurzawinski","sequence":"additional","affiliation":[{"name":"3 Department of Endocrine Surgery, University College Hospital NHS Foundation Trust, NW1 2PG London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gill","family":"Rumsby","sequence":"additional","affiliation":[{"name":"4 Department of Clinical Biochemistry, University College Hospital NHS Foundation Trust, NW1 2PG London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Freeman","sequence":"additional","affiliation":[{"name":"5 Department of Pathology, University College Hospital NHS Foundation Trust, NW1 2PG London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahir","family":"Amin","sequence":"additional","affiliation":[{"name":"6 Department of Radiology, University College Hospital NHS Foundation Trust, NW1 2PG London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Korbonits","sequence":"additional","affiliation":[{"name":"2 Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, EC1A 7BE London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teng-Teng L L","family":"Chung","sequence":"additional","affiliation":[{"name":"1 Department of Endocrinology, University College Hospital NHS Foundation Trust, NW1 2PG London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref251","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/gcc.2870100109","article-title":"Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I","volume":"10","year":"1994","journal-title":"Genes, Chromosomes & Cancer"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/gcc.2870100109","article-title":"Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I","volume":"10","year":"1994","journal-title":"Genes, Chromosomes & Cancer"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1542\/peds.2007-3364","article-title":"Health supervision for children with neurofibromatosis","volume":"121","year":"2008","journal-title":"Pediatrics"},{"key":"ref201","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1530\/ERC-13-0046","article-title":"WelanderJS\u00f6derkvistP The gene a frequent mutational target in sporadic pheochromocytomas and beyond - 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