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Pituitary adenoma 3, multiple types(PITA3)

MedGen UID:
1620824
Concept ID:
C4540135
Neoplastic Process
Synonyms: PITUITARY ADENOMA 3, ACTH-SECRETING, SOMATIC; PITUITARY ADENOMA 3, GROWTH HORMONE-SECRETING, SOMATIC
 
Gene (location): GNAS (20q13.32)
 
Monarch Initiative: MONDO:0054665
OMIM®: 617686

Definition

Somatic mutations in the GNAS gene have been found predominantly in GH-secreting pituitary adenomas but also in ACTH-secreting adenomas. Mutations in the GNAS gene have been found in about 40% of sporadic somatotrophin adenomas (summary by Mete and Lopes, 2017). For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (102200). [from OMIM]

Clinical features

From HPO
ACTH-producing pituitary gland adenoma
MedGen UID:
266291
Concept ID:
C1306214
Neoplastic Process
A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).
Pituitary growth hormone cell adenoma
MedGen UID:
866320
Concept ID:
C4018860
Neoplastic Process
A type of pituitary adenoma that produces growth hormone.
Acral overgrowth
MedGen UID:
1789172
Concept ID:
C1735881
Disease or Syndrome
Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement.
Increased circulating prolactin concentration
MedGen UID:
1702649
Concept ID:
C5200994
Finding
The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Elevated circulating growth hormone concentration
MedGen UID:
66732
Concept ID:
C0235986
Finding
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
Increased circulating ACTH level
MedGen UID:
867375
Concept ID:
C4021740
Finding
An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
Increased circulating cortisol level
MedGen UID:
871175
Concept ID:
C4025651
Finding
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.

Professional guidelines

PubMed

Lian B, Lu J, Fang X, Zhang Y, Wang W, He Y, Yu H, Li F, Wang J, Chen W, Qi X
Front Endocrinol (Lausanne) 2024;15:1442691. Epub 2024 Aug 30 doi: 10.3389/fendo.2024.1442691. PMID: 39279998Free PMC Article
Zhao Y, Lian W, Xing B, Wang R
Clin Neurol Neurosurg 2019 Sep;184:105423. Epub 2019 Jul 12 doi: 10.1016/j.clineuro.2019.105423. PMID: 31376772
Lodish MB, Trivellin G, Stratakis CA
Curr Opin Endocrinol Diabetes Obes 2016 Feb;23(1):72-80. doi: 10.1097/MED.0000000000000212. PMID: 26574647Free PMC Article

Recent clinical studies

Etiology

Lian B, Lu J, Fang X, Zhang Y, Wang W, He Y, Yu H, Li F, Wang J, Chen W, Qi X
Front Endocrinol (Lausanne) 2024;15:1442691. Epub 2024 Aug 30 doi: 10.3389/fendo.2024.1442691. PMID: 39279998Free PMC Article
Fan X, Liu T, Zhang Z, Sun J, Niu N, Mao C, Wang F, Li J, Zhou D, Cao X, Jin Z, Feng F
Eur Radiol 2023 Nov;33(11):8031-8042. Epub 2023 May 16 doi: 10.1007/s00330-023-09724-8. PMID: 37191919Free PMC Article
Asa SL, Mete O, Perry A, Osamura RY
Endocr Pathol 2022 Mar;33(1):6-26. Epub 2022 Mar 15 doi: 10.1007/s12022-022-09703-7. PMID: 35291028
Ahn CH, Kim JH, Park MY, Kim SW
J Clin Endocrinol Metab 2021 Mar 8;106(3):e1362-e1372. doi: 10.1210/clinem/dgaa752. PMID: 33075802
Nozières C, Berlier P, Dupuis C, Raynaud-Ravni C, Morel Y, Chazot FB, Nicolino M
Orphanet J Rare Dis 2011 Oct 24;6:67. doi: 10.1186/1750-1172-6-67. PMID: 22024364Free PMC Article

Diagnosis

Banerjee A, Ray A, Barpanda A, Dash A, Gupta I, Nissa MU, Zhu H, Shah A, Duttagupta SP, Goel A, Srivastava S
Proteomics Clin Appl 2022 Nov;16(6):e2100111. Epub 2022 Sep 18 doi: 10.1002/prca.202100111. PMID: 35939377
Asa SL, Mete O, Perry A, Osamura RY
Endocr Pathol 2022 Mar;33(1):6-26. Epub 2022 Mar 15 doi: 10.1007/s12022-022-09703-7. PMID: 35291028
Sofela AA, Hettige S, Curran O, Bassi S
Neurosurgery 2014 Sep;75(3):306-14; discussion 314. doi: 10.1227/NEU.0000000000000380. PMID: 24978859
Guaraldi F, Prencipe N, di Giacomo V, Scanarini M, Gasco V, Gardiman MP, Berton AM, Ghigo E, Grottoli S
Endocrine 2013 Aug;44(1):59-65. Epub 2013 Feb 2 doi: 10.1007/s12020-013-9892-3. PMID: 23377700
Scheithauer BW, Kovacs K, Horvath E, Kim DS, Osamura RY, Ketterling RP, Lloyd RV, Kim OL
Acta Neuropathol 2008 Dec;116(6):657-66. Epub 2008 Jun 13 doi: 10.1007/s00401-008-0388-9. PMID: 18551299

Therapy

Merchant TE, Hoehn ME, Khan RB, Sabin ND, Klimo P, Boop FA, Wu S, Li Y, Burghen EA, Jurbergs N, Sandler ES, Aldana PR, Indelicato DJ, Conklin HM
Lancet Oncol 2023 May;24(5):523-534. Epub 2023 Apr 18 doi: 10.1016/S1470-2045(23)00146-8. PMID: 37084748Free PMC Article
Ahn CH, Kim JH, Park MY, Kim SW
J Clin Endocrinol Metab 2021 Mar 8;106(3):e1362-e1372. doi: 10.1210/clinem/dgaa752. PMID: 33075802
Nozières C, Berlier P, Dupuis C, Raynaud-Ravni C, Morel Y, Chazot FB, Nicolino M
Orphanet J Rare Dis 2011 Oct 24;6:67. doi: 10.1186/1750-1172-6-67. PMID: 22024364Free PMC Article
Saveanu A, Gunz G, Guillen S, Dufour H, Culler MD, Jaquet P
Neuroendocrinology 2006;83(3-4):258-63. Epub 2006 Oct 13 doi: 10.1159/000095536. PMID: 17047391
Froidevaux S, Eberle AN
Biopolymers 2002;66(3):161-83. doi: 10.1002/bip.10256. PMID: 12385036

Prognosis

Fan X, Liu T, Zhang Z, Sun J, Niu N, Mao C, Wang F, Li J, Zhou D, Cao X, Jin Z, Feng F
Eur Radiol 2023 Nov;33(11):8031-8042. Epub 2023 May 16 doi: 10.1007/s00330-023-09724-8. PMID: 37191919Free PMC Article
Mei L
Genomics 2022 May;114(3):110352. Epub 2022 Mar 26 doi: 10.1016/j.ygeno.2022.110352. PMID: 35351581
Hasegawa H, Jentoft ME, Young WF Jr, Lakomkin N, Van Gompel JJ, Link MJ, Atkinson JL, Meyer FB
World Neurosurg 2021 May;149:e51-e62. Epub 2021 Feb 26 doi: 10.1016/j.wneu.2021.02.091. PMID: 33647491
Ahn CH, Kim JH, Park MY, Kim SW
J Clin Endocrinol Metab 2021 Mar 8;106(3):e1362-e1372. doi: 10.1210/clinem/dgaa752. PMID: 33075802
Sofela AA, Hettige S, Curran O, Bassi S
Neurosurgery 2014 Sep;75(3):306-14; discussion 314. doi: 10.1227/NEU.0000000000000380. PMID: 24978859

Clinical prediction guides

Fan X, Liu T, Zhang Z, Sun J, Niu N, Mao C, Wang F, Li J, Zhou D, Cao X, Jin Z, Feng F
Eur Radiol 2023 Nov;33(11):8031-8042. Epub 2023 May 16 doi: 10.1007/s00330-023-09724-8. PMID: 37191919Free PMC Article
Muezzinoglu T, Baygin N, Tuncer I, Barua PD, Baygin M, Dogan S, Tuncer T, Palmer EE, Cheong KH, Acharya UR
J Digit Imaging 2023 Jun;36(3):973-987. Epub 2023 Feb 16 doi: 10.1007/s10278-023-00789-x. PMID: 36797543Free PMC Article
Hasegawa H, Jentoft ME, Young WF Jr, Lakomkin N, Van Gompel JJ, Link MJ, Atkinson JL, Meyer FB
World Neurosurg 2021 May;149:e51-e62. Epub 2021 Feb 26 doi: 10.1016/j.wneu.2021.02.091. PMID: 33647491
Xie Z, Wang Q, Lu X
Pituitary 2019 Aug;22(4):381-386. doi: 10.1007/s11102-019-00967-7. PMID: 31093846
Clayton RN, Farrell WE
Brain Pathol 2001 Jul;11(3):313-27. doi: 10.1111/j.1750-3639.2001.tb00402.x. PMID: 11414474Free PMC Article

Recent systematic reviews

Karipidis K, Baaken D, Loney T, Blettner M, Brzozek C, Elwood M, Narh C, Orsini N, Röösli M, Paulo MS, Lagorio S
Environ Int 2024 Sep;191:108983. Epub 2024 Aug 30 doi: 10.1016/j.envint.2024.108983. PMID: 39241333
Hasegawa H, Jentoft ME, Young WF Jr, Lakomkin N, Van Gompel JJ, Link MJ, Atkinson JL, Meyer FB
World Neurosurg 2021 May;149:e51-e62. Epub 2021 Feb 26 doi: 10.1016/j.wneu.2021.02.091. PMID: 33647491

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