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open access

Vol 70, No 5 (2019)
Review paper
Submitted: 2019-04-16
Accepted: 2019-04-29
Published online: 2019-10-25
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Pituitary tumours in MEN1 syndrome — the new insight into the diagnosis and treatment

Damian Rogoziński1, Aleksandra Gilis-Januszewska12, Anna Skalniak12, Łukasz Kluczyński12, Jacek Pantofliński1, Alicja Hubalewska-Dydejczyk12
DOI: 10.5603/EP.a2019.0026
·
Pubmed: 31681967
·
Endokrynol Pol 2019;70(5):445-452.
Affiliations
  1. Chair and Department of Endocrinology, University Hospital, Krakow, Poland
  2. Chair and Department of Endocrinology, Jagiellonian University Medical College, Krakow, Poland

open access

Vol 70, No 5 (2019)
Reviews — Postgraduate Education
Submitted: 2019-04-16
Accepted: 2019-04-29
Published online: 2019-10-25

Abstract

Pituitary tumours are a common pathology affecting 15–20% of the population. Only about 1‰ of adenomas are clinically manifested; among them, about two/thirds are hormonally active, most often secreting prolactin or growth hormone. Pituitary tumours are mainly an isolated pathology, without any genetic background. However, the latest studies pay special attention to the possibility of developing an adenoma as a result of genetic mutation. Among pituitary adenomas, the leading group of genetically determined lesions is related to a mutation in AIP or MEN1, followed by PRKAR1A, GRP101, DICER, and SDHx. The genetic basis of these pituitary tumours is related to positive family history, young age of the patient, aggressive clinical process, and resistance to treatment. Pituitary tumours occur in over 40% of patients with MEN1 syndrome — often in women, they are more than 1 cm in diameter, and secrete prolactin. They are usually diagnosed in the fourth decade of life and show a worse response to pharmacotherapy than sporadic ones. Confirmation of the genetic background of the pituitary tumour implies measurable implications; it might help to direct the diagnosis in patients’ family members, partially predict the development of the disease, and, above all, extend patients’ life expectancy. 

Abstract

Pituitary tumours are a common pathology affecting 15–20% of the population. Only about 1‰ of adenomas are clinically manifested; among them, about two/thirds are hormonally active, most often secreting prolactin or growth hormone. Pituitary tumours are mainly an isolated pathology, without any genetic background. However, the latest studies pay special attention to the possibility of developing an adenoma as a result of genetic mutation. Among pituitary adenomas, the leading group of genetically determined lesions is related to a mutation in AIP or MEN1, followed by PRKAR1A, GRP101, DICER, and SDHx. The genetic basis of these pituitary tumours is related to positive family history, young age of the patient, aggressive clinical process, and resistance to treatment. Pituitary tumours occur in over 40% of patients with MEN1 syndrome — often in women, they are more than 1 cm in diameter, and secrete prolactin. They are usually diagnosed in the fourth decade of life and show a worse response to pharmacotherapy than sporadic ones. Confirmation of the genetic background of the pituitary tumour implies measurable implications; it might help to direct the diagnosis in patients’ family members, partially predict the development of the disease, and, above all, extend patients’ life expectancy. 

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Keywords

pituitary tumours; genetic; MEN1 syndrome; diagnostic; treatment

About this article
Title

Pituitary tumours in MEN1 syndrome — the new insight into the diagnosis and treatment

Journal

Endokrynologia Polska

Issue

Vol 70, No 5 (2019)

Article type

Review paper

Pages

445-452

Published online

2019-10-25

Page views

2045

Article views/downloads

1509

DOI

10.5603/EP.a2019.0026

Pubmed

31681967

Bibliographic record

Endokrynol Pol 2019;70(5):445-452.

Keywords

pituitary tumours
genetic
MEN1 syndrome
diagnostic
treatment

Authors

Damian Rogoziński
Aleksandra Gilis-Januszewska
Anna Skalniak
Łukasz Kluczyński
Jacek Pantofliński
Alicja Hubalewska-Dydejczyk

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