Tumorprädisposition in der Endokrinologie – von MEN bis FIPA

Was ist neu?

Endokrinologische Tumorprädispositionen Die Kenntnis über eine genetische Tumorprädisposition hat einen wesentlichen Einfluss auf die Behandlung sowie die Früherkennung und Prävention bei Patient*innen mit endokrinen Tumoren. Die im Rahmen einer familiären Prädisposition entstehenden Tumore manifestieren sich oft früh und betreffen häufig mehrere endokrine Organe. Im folgenden Artikel werden die innerhalb der Tumorsyndrome häufig vorkommenden Krankheitsbilder wie die MEN-Syndrome (Multiple Endokrine Neoplasien) sowie seltenere Manifestationen wie das familiäre isolierte Hypophysenadenom (FIPA) anhand ihrer jeweiligen Indikator-Erkrankungen vorgestellt.

Abstract

Understanding genetic predisposition has a significant impact on the management of patients with endocrine tumours, including therapy, early detection and prevention. These tumours, which develop as part of a familial predisposition, often manifest early in life and frequently affect several endocrine organs. In the following article, both common syndromes, such as multiple endocrine neoplasia (MEN) syndromes, and rare syndromes, such as familial isolated pituitary adenoma (FIPA), are presented based on their indicator diseases.

Schlüsselwörter

Schilddrüsenkrebs - MEN - Tumorprädisposition - Phäochromozytom - Hypophysenadenom

Keywords

thyroid cancer - MEN - tumor predisposition - pheochromocytoma - pituitary adenoma

Publication History

Article published online:
27 February 2024

• Literatur

• 1 Garutti M, Foffano L, Mazzeo R. et al. Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. Genes (Basel) 2023; 14: 1025
• 2 Scarpa A, Chang DK, Nones K. et al. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature 2017; 543: 65-71
• 3 Beckers A, Aaltonen LA, Daly AF. et al. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev 2013; 34: 239-277
• 4 Salenave S, Boyce AM, Collins MT. et al. Acromegaly and McCune-Albright syndrome. J Clin Endocrinol Metab 2014; 99: 1955-1969
• 5 Agosto Salgado S, Kaye ER, Sargi Z. et al. Papaleontiou M. Management of Advanced Thyroid Cancer: Overview, Advances, and Opportunities. Am Soc Clin Oncol Educ Book 2023; 43: e389708
• 6 Baumgartner-Parzer S. Multiple Endokrine Neoplasie Typ 2 (MEN2). Journal für Klinische Endokrinologie und Stoffwechsel 2018; 11: 23-26
• 7 Peiling Yang S, Ngeow J. Familial non-medullary thyroid cancer: unraveling the genetic maze. Endocr Relat Cancer 2016; 23: R577-r95
• 8 Takayama T, Muguruma N, Igarashi M. et al. Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication. J Anus Rectum Colon 2023; 7: 284-300
• 9 Ramírez Stieben LA, Pozzi D. Papillary thyroid carcinoma with desmoid fibromatosis: a case report and review of literature. Rev Fac Cien Med Univ Nac Cordoba 2023; 80: 289-300
• 10 Caroleo AM, De Ioris MA, Boccuto L. et al. DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk. Front Oncol 2020; 10: 614541
• 11 Bilezikian JP, Khan AA, Silverberg SJ. et al. Evaluation and Management of Primary Hyperparathyroidism: Summary Statement and Guidelines from the Fifth International Workshop. J Bone Miner Res 2022; 37: 2293-2314
• 12 Thakker RV, Newey PJ, Walls GV. et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 2012; 97 (09) 2990-3011
• 13 Ruggeri RM, Benevento E, De Cicco F. et al. Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome. Endocrine 2023; 82: 480-490
• 14 Minisola S, Arnold A, Belaya Z. et al. Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism. J Bone Miner Res 2022; 37: 2315-2329
• 15 Lenders JWM, Kerstens MN, Amar L. et al. Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension. J Hypertens 2020; 38: 1443-1456
• 16 Nölting S, Bechmann N, Taieb D. et al. Personalized Management of Pheochromocytoma and Paraganglioma. Endocr Rev 2022; 43: 199-239
• 17 Mannelli M, Canu L, Ercolino T. et al. DIAGNOSIS of ENDOCRINE DISEASE: SDHx mutations: beyond pheochromocytomas and paragangliomas. Eur J Endocrinol 2018; 178: R11-r7
• 18 Correa R, Salpea P, Stratakis CA. Carney complex: an update. Eur J Endocrinol 2015; 173: M85-97
• 19 Clay MR, Pinto EM, Fishbein L. et al. Pathological and Genetic Stratification for Management of Adrenocortical Carcinoma. J Clin Endocrinol Metab 2022; 107: 1159-1169
• 20 Pea A, Hruban RH, Wood LD. Genetics of pancreatic neuroendocrine tumors: implications for the clinic. Expert Rev Gastroenterol Hepatol 2015; 9: 1407-1419