Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors

Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients. Design 12-year prospective, observational study. Participants & Setting We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. Interventions & Outcome AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310). Results Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650). Conclusions Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course

Memory impairment in patients with surgically removed pituitary adenoma

Pituitary adenomas (PA) are benign brain tumors causing hormonal imbalance, which frequently is followed by physiological symptoms and cognitive dysfunction. PA patients usually suffer from deficits in different memory domains, including working memory, recall and recognition, which are essential for everyday tasks. Neurosurgery is one of main treatment options for PA. It is presumed that after PA is surgically removed, some of cognitive functions including memory might recover over time, however research studies in this area are scarce. The objective of this study was to assess whether longer period following PA surgery is related to better memory functioning. 36 patients (24 females and 12 males, mean age 50 (SD 13) years) participated in this study. Average follow-up duration after surgery was 82 ± 64 months. Memory domains (working memory, delayed recall and recognition) were measured by Lithuanian version of Hopkins Verbal Learning TestRevised. Results showed that one-third of participants still demonstrated significant impairments in delayed recall and recognition domains, and nearly one-fifth had impaired working memory. Correlation analysis revealed significant relationship between longer period following PA surgery and better performance on recognition task (r = 0.361; p = 0.03), however no significant relationships were found between longer period following PA surgery and better functioning in working memory and delayed recall domains. In conclusion, memory impairment is prevalent many months after PA surgery. It seems, that working memory and delayed recall difficulties are relatively stable and do not improve over time, however recognition may recover after PA is surgically removedLietuvos sveikatos mokslų universitetasLietuvos sveikatos mokslų universiteto ligoninė Kauno klinikosPsichologijos katedraSocialinių mokslų fakultetasVytauto Didžiojo universiteta

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected AIP mutation (AIPmut) carriers could identify previously unrecognized disease.This article is freely available via PubMed Central. Click on the 'Additional Link' above to access the full text