PMID- 36843582
OWN - NLM
STAT- MEDLINE
DCOM- 20230228
LR  - 20230228
IS  - 1664-2392 (Print)
IS  - 1664-2392 (Electronic)
IS  - 1664-2392 (Linking)
VI  - 14
DP  - 2023
TI  - AIP gene germline variants in adult Polish patients with apparently sporadic 
      pituitary macroadenomas.
PG  - 1098367
LID - 10.3389/fendo.2023.1098367 [doi]
LID - 1098367
AB  - INTRODUCTION: Up to 5% of all pituitary tumors are hereditary e.g. due to MEN1 or 
      aryl hydrocarbon receptor-interacting protein (AIP) genes mutations. OBJECTIVES: 
      The study was aimed at the assessment of the frequency and characteristics of 
      AIP-mutation related tumors in patients with apparently sporadic pituitary 
      macroadenomas in the Polish population. MATERIALS AND METHODS: The study included 
      131 patients (57 males, 74 females; median age 42 years) diagnosed with pituitary 
      macroadenomas, and with a negative family history of familial isolated pituitary 
      adenoma (FIPA) or multiple endocrine neoplasia type 1 (MEN1) syndromes. Sanger 
      sequencing was used for the assessment of AIP gene variants. The study was 
      approved by the Ethics Board of JUMC. RESULTS: AIP variants were identified in 
      five of the 131 included subjects (3.8%): one diagnosed with Cushing's disease, 
      two with acromegaly, and two with non-secreting adenomas. Patients harboring 
      hereditary AIP gene alterations did not differ from the rest of the study group 
      in median age at diagnosis (41.0 vs. 42.5 years, P=0.8), median largest tumor 
      diameter (25 vs. 24 mm, P=0.6), gender distribution (60.0% vs. 56.3% females, 
      P=0.8), secreting tumor frequency (60.0% vs. 67.5%, P=0.7), or acromegaly 
      diagnosis frequency (40.0% vs.37.3%, P=0.9). CONCLUSIONS: In our series of 
      apparently sporadic pituitary macroadenomas, AIP gene variant carriers did not 
      differ substantially from patients with negative genetic testing. A risk 
      factor-centred approach to AIP genetic screening may result in missing germline 
      variants. Considering the clinical impact of such genetic variants and their 
      relatively low penetrance, it is, however, doubtful if general genetic screening 
      benefits the whole cohort of pituitary macroadenoma patients and their families.
CI  - Copyright (c) 2023 Trofimiuk-Muldner, Domagala, Sokolowski, Skalniak and 
      Hubalewska-Dydejczyk.
FAU - Trofimiuk-Muldner, Malgorzata
AU  - Trofimiuk-Muldner M
AD  - Chair and Department of Endocrinology, Jagiellonian University Medical College, 
      Krakow, Poland.
FAU - Domagala, Bartosz
AU  - Domagala B
AD  - Department of Endocrinology, Endocrine Oncology and Nuclear Medicine, University 
      Hospital in Krakow, Krakow, Poland.
FAU - Sokolowski, Grzegorz
AU  - Sokolowski G
AD  - Chair and Department of Endocrinology, Jagiellonian University Medical College, 
      Krakow, Poland.
FAU - Skalniak, Anna
AU  - Skalniak A
AD  - Chair and Department of Endocrinology, Jagiellonian University Medical College, 
      Krakow, Poland.
FAU - Hubalewska-Dydejczyk, Alicja
AU  - Hubalewska-Dydejczyk A
AD  - Chair and Department of Endocrinology, Jagiellonian University Medical College, 
      Krakow, Poland.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230210
PL  - Switzerland
TA  - Front Endocrinol (Lausanne)
JT  - Frontiers in endocrinology
JID - 101555782
SB  - IM
MH  - Male
MH  - Female
MH  - Humans
MH  - Adult
MH  - *Pituitary Neoplasms/epidemiology/genetics/diagnosis
MH  - *Acromegaly/genetics
MH  - Poland/epidemiology
MH  - *Growth Hormone-Secreting Pituitary Adenoma/pathology
MH  - *Multiple Endocrine Neoplasia Type 1
MH  - Germ Cells/pathology
PMC - PMC9950257
OTO - NOTNLM
OT  - AIP
OT  - adenoma
OT  - aryl hydrocarbon receptor-interacting protein
OT  - mutation
OT  - pituitary
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/02/28 06:00
MHDA- 2023/03/03 06:00
PMCR- 2023/01/01
CRDT- 2023/02/27 03:47
PHST- 2022/11/14 00:00 [received]
PHST- 2023/01/23 00:00 [accepted]
PHST- 2023/02/27 03:47 [entrez]
PHST- 2023/02/28 06:00 [pubmed]
PHST- 2023/03/03 06:00 [medline]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fendo.2023.1098367 [doi]
PST - epublish
SO  - Front Endocrinol (Lausanne). 2023 Feb 10;14:1098367. doi: 
      10.3389/fendo.2023.1098367. eCollection 2023.