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A clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma.

Salvatori R, Daly AF, Quinones-Hinojosa A, Thiry A, Beckers A - Endocrinol Diabetes Metab Case Rep (2014)

Bottom Line: More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history.His family history was negative.His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.

View Article: PubMed Central - PubMed

Affiliation: Division of Endocrinology, Diabetes and Metabolism, Johns Hopkins University School of Medicine , Baltimore, Maryland , USA.

ABSTRACT

Unlabelled: Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) 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 AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.

Learning points: AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.LOH is a strong indicator that an AIP variant is disease causing.Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure.

No MeSH data available.


Related in: MedlinePlus

Sagittal (a) and coronal (b) post-gadolinium MRI showing a large sellar mass with extensive skull base invasion.
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fig1: Sagittal (a) and coronal (b) post-gadolinium MRI showing a large sellar mass with extensive skull base invasion.

Mentions: The patient, an adolescent Caucasian male, first noticed enlargement of his hands and worsening headaches beginning at the age of 16. His mother reported that he grew ∼22 cm between 15 and 17 years of age. When aged 17, he noticed some visual disturbances, which were ascribed to astigmatism and were treated with corrective lenses. A temporary improvement occurred but he reported that his vision again began to worsen. At the time, he also noted widening of his feet, pain in his knees and lower back, excessive sweating, and the expansion of his interdental spaces, associated with malocclusion due to a newly developed underbite. He denied symptoms of carpal tunnel syndrome or sleep apnea. Owing to the continuing headaches at the age of 19, he underwent brain magnetic resonance imaging (MRI) that revealed an extensive skull base mass, centered in the sellar and suprasellar region with compression of the optic chiasm and prechiasmatic nerves along with invasion of bilateral cavernous sinuses, encasement of the basilar artery, and significant extension into the prepontine cistern (Fig. 1). He was referred to an endocrinologist.


A clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma.

Salvatori R, Daly AF, Quinones-Hinojosa A, Thiry A, Beckers A - Endocrinol Diabetes Metab Case Rep (2014)

Sagittal (a) and coronal (b) post-gadolinium MRI showing a large sellar mass with extensive skull base invasion.
© Copyright Policy - license
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4120360&req=5

fig1: Sagittal (a) and coronal (b) post-gadolinium MRI showing a large sellar mass with extensive skull base invasion.
Mentions: The patient, an adolescent Caucasian male, first noticed enlargement of his hands and worsening headaches beginning at the age of 16. His mother reported that he grew ∼22 cm between 15 and 17 years of age. When aged 17, he noticed some visual disturbances, which were ascribed to astigmatism and were treated with corrective lenses. A temporary improvement occurred but he reported that his vision again began to worsen. At the time, he also noted widening of his feet, pain in his knees and lower back, excessive sweating, and the expansion of his interdental spaces, associated with malocclusion due to a newly developed underbite. He denied symptoms of carpal tunnel syndrome or sleep apnea. Owing to the continuing headaches at the age of 19, he underwent brain magnetic resonance imaging (MRI) that revealed an extensive skull base mass, centered in the sellar and suprasellar region with compression of the optic chiasm and prechiasmatic nerves along with invasion of bilateral cavernous sinuses, encasement of the basilar artery, and significant extension into the prepontine cistern (Fig. 1). He was referred to an endocrinologist.

Bottom Line: More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history.His family history was negative.His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.

View Article: PubMed Central - PubMed

Affiliation: Division of Endocrinology, Diabetes and Metabolism, Johns Hopkins University School of Medicine , Baltimore, Maryland , USA.

ABSTRACT

Unlabelled: Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) 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 AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.

Learning points: AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.LOH is a strong indicator that an AIP variant is disease causing.Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure.

No MeSH data available.


Related in: MedlinePlus