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Salvatori, Roberto;
Daly, Adrian F;
Quinones-Hinojosa, Alfredo;
Thiry, Albert;
Beckers, Albert
A clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma
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- Medientyp: E-Artikel
- Titel: A clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma
- Beteiligte: Salvatori, Roberto; Daly, Adrian F; Quinones-Hinojosa, Alfredo; Thiry, Albert; Beckers, Albert
- Erschienen: Bioscientifica, 2014
- Erschienen in: Endocrinology, Diabetes & Metabolism Case Reports
- Umfang:
- Sprache: Nicht zu entscheiden
- DOI: 10.1530/edm-14-0048
- ISSN: 2052-0573
- Schlagwörter: Endocrinology, Diabetes and Metabolism ; Internal Medicine
- Zusammenfassung: <jats:title>Summary</jats:title> <jats:p>Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (<jats:italic>AIP</jats:italic>) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous <jats:italic>AIP</jats:italic> mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.</jats:p> <jats:sec> <jats:title>Learning points</jats:title> <jats:p> <jats:list list-type="bullet"> <jats:list-item> <jats:p> <jats:italic>AIP</jats:italic> mutations may be observed in sporadic somatotrope adenomas occurring in young patients.</jats:p> </jats:list-item> <jats:list-item> <jats:p>LOH is a strong indicator that an <jats:italic>AIP</jats:italic> variant is disease causing.</jats:p> </jats:list-item> <jats:list-item> <jats:p>Somatotrope adenomas in carriers of <jats:italic>AIP</jats:italic> mutations are generally larger and more difficult to cure.</jats:p> </jats:list-item> </jats:list> </jats:p> </jats:sec>
-
Beschreibung:
<jats:title>Summary</jats:title>
<jats:p>Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (<jats:italic>AIP</jats:italic>) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous <jats:italic>AIP</jats:italic> mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.</jats:p>
<jats:sec>
<jats:title>Learning points</jats:title>
<jats:p>
<jats:list list-type="bullet">
<jats:list-item>
<jats:p>
<jats:italic>AIP</jats:italic> mutations may be observed in sporadic somatotrope adenomas occurring in young patients.</jats:p>
</jats:list-item>
<jats:list-item>
<jats:p>LOH is a strong indicator that an <jats:italic>AIP</jats:italic> variant is disease causing.</jats:p>
</jats:list-item>
<jats:list-item>
<jats:p>Somatotrope adenomas in carriers of <jats:italic>AIP</jats:italic> mutations are generally larger and more difficult to cure.</jats:p>
</jats:list-item>
</jats:list>
</jats:p>
</jats:sec> - Anmerkungen:
- Zugangsstatus: Freier Zugang