Melmed S, Kaiser UB, Lopes MB, Bertherat J, Syro LV, Raverot G, Reincke M, Johannsson G, Beckers A, Fleseriu M, Giustina A, Wass JAH, Ho KKY (2022) Clinical Biology of the Pituitary Adenoma. Endocr Rev 43:1003–1037. https://doi.org/10.1210/endrev/bnac010

Article  PubMed  PubMed Central  Google Scholar 

Trouillas J, Jaffrain-Rea M-L, Vasiljevic A, Dekkers O, Popovic V, Wierinckx A, McCormack A, Petersenn S, Burman P, Raverot G, Villa C (2020) Are aggressive pituitary tumors and carcinomas two sides of the same coin? Pathologists reply to clinician’s questions. Rev Endocr Metab Disord 21:243–251. https://doi.org/10.1007/s11154-020-09562-9

Article  PubMed  Google Scholar 

Asa SL, Mete O, Perry A, Osamura RY (2022) Overview of the 2022 WHO Classification of Pituitary Tumors. Endocr Pathol 33:6–26. https://doi.org/10.1007/s12022-022-09703-7

Article  PubMed  CAS  Google Scholar 

Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP (2015) Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer 15:181–194. https://doi.org/10.1038/nrc3878

Article  PubMed  CAS  Google Scholar 

Hirohata T, Asano K, Ogawa Y, Takano S, Amano K, Isozaki O, Iwai Y, Sakata K, Fukuhara N, Nishioka H, Yamada S, Fujio S, Arita K, Takano K, Tominaga A, Hizuka N, Ikeda H, Osamura RY, Tahara S, Ishii Y, Kawamata T, Shimatsu A, Teramoto A, Matsuno A (2013) DNA mismatch repair protein (MSH6) correlated with the responses of atypical pituitary adenomas and pituitary carcinomas to temozolomide: the national cooperative study by the Japan Society for Hypothalamic and Pituitary Tumors. J Clin Endocrinol Metab 98:1130–1136. https://doi.org/10.1210/jc.2012-2924

Article  PubMed  CAS  Google Scholar 

Matsuno A, Murakami M, Hoya K, Yamada SM, Miyamoto S, Yamada S, Son J-H, Nishido H, Ide F, Nagashima H, Sugaya M, Hirohata T, Mizutani A, Okinaga H, Ishii Y, Tahara S, Teramoto A, Osamura RY (2014) Molecular status of pituitary carcinoma and atypical adenoma that contributes the effectiveness of temozolomide. Med Mol Morphol 47:1–7. https://doi.org/10.1007/s00795-013-0050-z

Article  PubMed  CAS  Google Scholar 

Lin AL, Jonsson P, Tabar V, Yang TJ, Cuaron J, Beal K, Cohen M, Postow M, Rosenblum M, Shia J, DeAngelis LM, Taylor BS, Young RJ, Geer EB (2018) Marked Response of a Hypermutated ACTH-Secreting Pituitary Carcinoma to Ipilimumab and Nivolumab. J Clin Endocrinol Metab 103:3925–3930. https://doi.org/10.1210/jc.2018-01347

Article  PubMed  PubMed Central  Google Scholar 

Caccese M, Barbot M, Ceccato F, Padovan M, Gardiman MP, Fassan M, Denaro L, Emanuelli E, D’Avella D, Scaroni C, Zagonel V, Lombardi G (2020) Rapid disease progression in patient with mismatch-repair deficiency pituitary ACTH-secreting adenoma treated with checkpoint inhibitor pembrolizumab. Anticancer Drugs 31:199–204. https://doi.org/10.1097/CAD.0000000000000856

Article  PubMed  CAS  Google Scholar 

Majd N, Waguespack SG, Janku F, Fu S, Penas-Prado M, Xu M, Alshawa A, Kamiya-Matsuoka C, Raza SM, McCutcheon IE, Naing A (2020) Efficacy of pembrolizumab in patients with pituitary carcinoma: report of four cases from a phase II study. J Immunother Cancer 8:e001532. https://doi.org/10.1136/jitc-2020-001532

Article  PubMed  PubMed Central  Google Scholar 

Shah MA, Kennedy EB, Alarcon-Rozas AE, Alcindor T, Bartley AN, Malowany AB, Bhadkamkar NA, Deighton DC, Janjigian Y, Karippot A, Khan U, King DA, Klute K, Lacy J, Lee JJ, Mehta R, Mukherjee S, Nagarajan A, Park H, Saeed A, Semrad TJ, Shitara K, Smyth E, Uboha NV, Vincelli M, Wainberg Z, Rajdev L (2023) Immunotherapy and Targeted Therapy for Advanced Gastroesophageal Cancer: ASCO Guideline. J Clin Oncol Off J Am Soc Clin Oncol 41:1470–1491. https://doi.org/10.1200/JCO.22.02331

Article  CAS  Google Scholar 

Uraki S, Ariyasu H, Doi A, Furuta H, Nishi M, Sugano K, Inoshita N, Nakao N, Yamada S, Akamizu T (2017) Atypical pituitary adenoma with MEN1 somatic mutation associated with abnormalities of DNA mismatch repair genes; MLH1 germline mutation and MSH6 somatic mutation. Endocr J 64:895–906. https://doi.org/10.1507/endocrj.EJ17-0036

Article  PubMed  Google Scholar 

Bengtsson D, Joost P, Aravidis C, Askmalm Stenmark M, Backman A-S, Melin B, von Salomé J, Zagoras T, Gebre-Medhin S, Burman P (2017) Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort. J Clin Endocrinol Metab 102:3928–3932. https://doi.org/10.1210/jc.2017-01401

Article  PubMed  Google Scholar 

Loughrey PB, Baker G, Herron B, Cooke S, Iacovazzo D, Lindsay JR, Korbonits M (2021) Invasive ACTH-producing pituitary gland neoplasm secondary to MSH2 mutation. Cancer Genet 256–257:36–39. https://doi.org/10.1016/j.cancergen.2021.03.008

Article  PubMed  CAS  Google Scholar 

Teuber J, Reinhardt A, Reuss D, Hähnel S, Unterberg A, Beynon C (2024) Aggressive pituitary adenoma in the context of Lynch syndrome: a case report and literature review on this rare coincidence. Br J Neurosurg 38:775–780. https://doi.org/10.1080/02688697.2021.1967881

Article  PubMed  Google Scholar 

Uraki S, Ariyasu H, Doi A, Kawai S, Takeshima K, Morita S, Fukai J, Fujita K, Furuta H, Nishi M, Sugano K, Inoshita N, Nakao N, Yamada S, Akamizu T (2018) Reduced Expression of Mismatch Repair Genes MSH6/MSH2 Directly Promotes Pituitary Tumor Growth via the ATR-Chk1 Pathway. J Clin Endocrinol Metab 103:1171–1179. https://doi.org/10.1210/jc.2017-02332

Article  PubMed  Google Scholar 

Uraki S, Ariyasu H, Doi A, Takeshima K, Morita S, Inaba H, Furuta H, Fukuhara N, Inoshita N, Nishioka H, Nakao N, Yamada S, Akamizu T (2020) MSH6/2 and PD-L1 Expressions Are Associated with Tumor Growth and Invasiveness in Silent Pituitary Adenoma Subtypes. Int J Mol Sci 21:2831. https://doi.org/10.3390/ijms21082831

Article  PubMed  PubMed Central  CAS  Google Scholar 

Villa C, Vasiljevic A, Jaffrain-Rea ML, Ansorge O, Asioli S, Barresi V, Chinezu L, Gardiman MP, Lania A, Lapshina AM, Poliani L, Reiniger L, Righi A, Saeger W, Soukup J, Theodoropoulou M, Uccella S, Trouillas J, Roncaroli F (2019) A standardised diagnostic approach to pituitary neuroendocrine tumours (PitNETs): a European Pituitary Pathology Group (EPPG) proposal. Virchows Arch Int J Pathol 475:687–692. https://doi.org/10.1007/s00428-019-02655-0

Article  CAS  Google Scholar 

Fratticci A, Grieco FA, Spilioti C, Giangaspero F, Ventura L, Esposito V, Piccirilli M, Santoro A, Gulino A, Cantore G, Alesse E, Jaffrain-Rea ML (2007) Differential expression of neurogenins and NeuroD1 in human pituitary tumours. J Endocrinol 194:475–484. https://doi.org/10.1677/JOE-07-0020

Article  PubMed  CAS  Google Scholar 

Barrow E, Jagger E, Brierley J, Wallace A, Evans G, Hill J, McMahon R (2010) Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome. Histopathology 56:331–344. https://doi.org/10.1111/j.1365-2559.2010.03485.x

Article  PubMed  Google Scholar 

Jaffrain-Rea M-L, Rotondi S, Turchi A, Occhi G, Barlier A, Peverelli E, Rostomyan L, Defilles C, Angelini M, Oliva M-A, Ceccato F, Maiorani O, Daly AF, Esposito V, Buttarelli F, Figarella-Branger D, Giangaspero F, Spada A, Scaroni C, Alesse E, Beckers A (2013) Somatostatin analogues increase AIP expression in somatotropinomas, irrespective of Gsp mutations. Endocr Relat Cancer 20:753–766. https://doi.org/10.1530/ERC-12-0322

Article  PubMed  CAS  Google Scholar 

Ballmann C, Thiel A, Korah HE, Reis A-C, Saeger W, Stepanow S, Köhrer K, Reifenberger G, Knobbe-Thomsen CB, Knappe UJ, Scholl UI (2018) USP8 Mutations in Pituitary Cushing Adenomas-Targeted Analysis by Next-Generation Sequencing. J Endocr Soc 2:266–278. https://doi.org/10.1210/js.2017-00364

Article  PubMed  PubMed Central  CAS  Google Scholar 

Sbiera S, Perez-Rivas LG, Taranets L, Weigand I, Flitsch J, Graf E, Monoranu C-M, Saeger W, Hagel C, Honegger J, Assie G, Hermus AR, Stalla GK, Herterich S, Ronchi CL, Deutschbein T, Reincke M, Strom TM, Popov N, Theodoropoulou M, Fassnacht M (2019) Driver mutations in USP8 wild-type Cushing’s disease. Neuro-Oncol 21:1273–1283. https://doi.org/10.1093/neuonc/noz109

Article  PubMed  PubMed Central  CAS  Google Scholar 

Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M (2015) Mutations in the deubiquitinase gene USP8 cause Cushing’s disease. Nat Genet 47:31–38. https://doi.org/10.1038/ng.3166

Article  PubMed  CAS  Google Scholar 

Tessitore A, Bruera G, Mastroiaco V, Cannita K, Cortellini A, Cocciolone V, Dal Mas A, Calvisi G, Zazzeroni F, Ficorella C, Ricevuto E, Alesse E (2018) KRAS and 2 rare PI3KCA mutations coexisting in a metastatic colorectal cancer patient with aggressive and resistant disease. Hum Pathol 74:178–182. https://doi.org/10.1016/j.humpath.2018.01.021

Simon J, Perez-Rivas LG, Zhao Y, Chasseloup F, Lasolle H, Cortet C, Descotes F, Villa C, Baussart B, Burman P, Maiter D, von Selzam V, Rotermund R, Flitsch J, Thorsteinsdottir J, Jouanneau E, Buchfelder M, Chanson P, Raverot G, Theodoropoulou M (2023) Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. Eur J Endocrinol 189:372–378. https://doi.org/10.1093/ejendo/lvad114

Article  PubMed  CAS  Google Scholar 

Park S-J, Rashid A, Lee J-H, Kim SG, Hamilton SR, Wu T-T (2003) Frequent CpG island methylation in serrated adenomas of the colorectum. Am J Pathol 162:815–822. https://doi.org/10.1016/S0002-9440(10)63878-3