3P association (3PAs): Pituitary adenoma and pheochromocytoma/paraganglioma. A heterogeneous clinical syndrome associated with different gene mutations.

摘要: Abstract Background Pituitary adenomas (PA) associated with pheochromocytomas/paragangliomas (Pheo/PGL), also known as “the three P association” or “3PAs” could be the results of coincidence, but new evidence supports a common pathogenic mechanism in some patients. Our aim is to report clinical data, surgical outcome, genetic findings large case series and review current knowledge on this topic. Methods In retrospective multicentre study, we compiled 10 patients PAs (6 unreported cases). Six were female mean age 51.6 ± 18.0 years. PA were: 6 acromegaly, 3 prolactinoma 1 non-functioning (NFPA). Among Pheo/PGL, 7 had single tumour (4 Pheo PGL) multiple bilateral disease (2 PGL Pheo). Patients GH-secreting NFPA underwent surgery, while received medical treatment (one patient required surgery). Unilateral adrenalectomy was carried out all procedure performed tumour. A resected two PGL. We found germline mutations: 2 SDHB (c.166-170delCCTCA gross deletion involving exon 1) SDHD (p.P81L 3). Two variants uncertain significance: MEN1 (c.1618C > T; p.Pro540Ser) RET (c.2556C > G, p.Ile852Met), finally RETM918T somatic mutation tissue. Conclusion actively suggest considering possibility hereditary cases 3PA performing complete study.