Major Genetic Motifs in Pituitary Adenomas: A Practical Literature Update

被引:0
作者
Agrawal, Nishant [1 ,4 ]
Gersey, Zachary C. [1 ]
Abou-Al-Shaar, Hussam [1 ]
Gardner, Paul A. [1 ]
Mantica, Megan [3 ]
Agnihotri, Sameer [1 ]
Mahmud, Hussain [2 ]
Fazeli, Pouneh K. [2 ]
Zenonos, Georgios A. [1 ]
机构
[1] Univ Pittsburgh, Dept Neurol Surg, Med Ctr, Pittsburgh, PA 15213 USA
[2] Univ Pittsburgh, Dept Endocrinol & Metab, Med Ctr, Pittsburgh, PA USA
[3] Univ Pittsburgh, Dept Neurooncol, Med Ctr, Pittsburgh, PA USA
[4] Univ Pittsburgh, Sch Med, Pittsburgh, PA USA
关键词
Familial; Genetics; Germline; Mutation; Pituitary adenoma; Sporadic; CARNEY COMPLEX; MANAGEMENT; MUTATIONS; MEN1; TUMORS; PROLIFERATION; LANDSCAPE; DIAGNOSIS; GH;
D O I
10.1016/J.WNEU.2022.09.036
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
-BACKGROUND: The literature includes many studies examining the genetic abnormalities that influence pituitary adenomas (PAs). We aimed to state the collective knowledge on the genetic underpinnings of PAs by organizing, sum-marizing, and consolidating the literature to serve as a comprehensive review for scientists and clinicians of the most up-to-date information underlying the genetic landscape of PAs. -METHODS: The PubMed and Google Scholar databases were searched using multiple key words and combined Medical Subject Headings terms; only articles published in English between January 2000 and January 2022 were included. Articles in which the focus did not relate to genetics, that included mainly anecdotal evidence, or that were single case studies were eliminated. -RESULTS: PAs are one of the most common intracranial neoplasms. However, the genetic underpinnings for these tumors are not yet fully elucidated. There are several categories of PAs: clinically significant versus not clinically significant, functional versus nonfunctional, and germline-derived versus sporadic origin. Each of these disease subcategories is characterized by unique genetic aber-rations. Recently, more genes and other types of genetic aberrations have been identified as possible causes of PAs, such as copy number variations and altered levels of microRNAs. -CONCLUSIONS: This review serves to consolidate and summarize the liter-ature discussing the genetic motifs of PAs to help physicians and scientists deliver patient-centered therapies.
引用
收藏
页码:43 / 50
页数:8
相关论文
共 61 条
[1]   The future: genetics advances in MEN1 therapeutic approaches and management strategies [J].
Agarwal, Sunita K. .
ENDOCRINE-RELATED CANCER, 2017, 24 (10) :T119-T134
[2]   Exploring the tumors of multiple endocrine neoplasia type 1 in mouse models for basic and preclinical studies [J].
Agarwal, Sunita K. .
INTERNATIONAL JOURNAL OF ENDOCRINE ONCOLOGY, 2014, 1 (02) :153-161
[3]   MEN4 and CDKN1B mutations: the latest of the MEN syndromes [J].
Alrezk, Rami ;
Hannah-Shmouni, Fady ;
Stratakis, Constantine A. .
ENDOCRINE-RELATED CANCER, 2017, 24 (10) :T195-T208
[4]  
Baciu I, 2016, MOD MED, V23, P42
[5]   USP8 Mutations in Pituitary Cushing Adenomas-Targeted Analysis by Next-Generation Sequencing [J].
Ballmann, Cora ;
Thiel, Anne ;
Korah, Hannah E. ;
Reis, Anna-Carinna ;
Saeger, Wolfgang ;
Stepanow, Stefanie ;
Koehrer, Karl ;
Reifenberger, Guido ;
Knobbe-Thomsen, Christiane B. ;
Knappe, Ulrich J. ;
Scholl, Ute I. .
JOURNAL OF THE ENDOCRINE SOCIETY, 2018, 2 (03) :266-278
[6]   The clinical, pathological, and genetic features of familial isolated pituitary adenomas [J].
Beckers, Albert ;
Daly, Adrian F. .
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2007, 157 (04) :371-382
[7]   DNA damage and growth hormone hypersecretion in pituitary somatotroph adenomas [J].
Ben-Shlomo, Anat ;
Deng, Nan ;
Ding, Evelyn ;
Yamamoto, Masaaki ;
Mamelak, Adam ;
Chesnokova, Vera ;
Labadzhyan, Artak ;
Melmed, Shlomo .
JOURNAL OF CLINICAL INVESTIGATION, 2020, 130 (11) :5738-5755
[8]   Pituitary Disease in AIP Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview [J].
Bilbao Garay, Ismene ;
Daly, Adrian F. ;
Egana Zunzunegi, Nerea ;
Beckers, Albert .
JOURNAL OF CLINICAL MEDICINE, 2020, 9 (06)
[9]   Novel Genetic Causes of Pituitary Adenomas [J].
Caimari, Francisca ;
Korbonits, Marta .
CLINICAL CANCER RESEARCH, 2016, 22 (20) :5030-5042
[10]   Acromegaly [J].
Colao, Annamaria ;
Grasso, Ludovica F. S. ;
Giustina, Andrea ;
Melmed, Shlomo ;
Chanson, Philippe ;
Pereira, Alberto M. ;
Pivonello, Rosario .
NATURE REVIEWS DISEASE PRIMERS, 2019, 5 (1)