ECE2020 Audio ePoster Presentations Pituitary and Neuroendocrinology (217 abstracts)
Phenotypic differences between patients with familial pituitary neuroendocrine tumours due to MEN1 or AIP mutations
Pedro Marques 1 , Daniela Magalhães 2 , Francisca Caimari 1 , Laura Hernández Ramírez 1,3 , David Collier 1 , Chung Lim 1 , Karen Stals 4 , Sian Ellard 4 , Maralyn Druce 5 , Scott Akker 5 , Mona Waterhouse 5 , William Drake 5 , Ashley B. Grossman 1 & Marta Korbonits 1
1William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK, Centre for Endocrinology, London, United Kingdom; 2Centro Hospitalar e Universitário de São João, Porto, Portugal, Department of Endocrinology, Porto, Portugal; 3Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH). Bethesda MD, USA, Section on Endocrinology & Genetics, Bethesda, United States; 4Royal Devon and Exeter NHS Foundation Trust, Exeter, UK, Department of Molecular Genetics, Exeter, United Kingdom; 5St. Bartholomew´s Hospital, West Smithfield, London, UK, Department of Endocrinology, London, United Kingdom
Introduction: Germline AIP and MEN1 mutations are the main known aetiologies of familial pituitary neuroendocrine tumours (PitNETs), which represent 5% of all PitNETs. We compared the clinical and tumour characteristics of AIP (AIP mut) and MEN1 mutation-positive (MEN1 mut) PitNET patients.
Methods: We retrospectively analysed 70 MEN1 mut and 167 AIP mut patients with PitNETs. MEN1 genetic testing was performed according to currentguidelines, while AIP genetic analysis was offered to FIPA patients, as well as sporadic pituitary macroadenomas with onset <30 yr or micro/macroadenomas with onset <18 yr.
Results: In our MEN1 mut PitNET cohort, 52.9% were females, age at PitNET diagnosis was 29.6 ± 16.6 yr (mean±
MEN1 mut PitNET patients had lower rates of hypopituitarism at diagnosis (21.4 vs 42.7%; P = 0.011), fewer macroadenomas (42.4 vs 83.2%; P < 0.001), extrasellar and suprasellar extensions (28.6 vs 66.7%; P < 0.001, and 28.6 vs 54.3%; p = 0.004, respectively), fewer pituitary deficits at diagnosis (0.3 ± 0.7 vs 0.8 ± 1.1; P = 0.006) and smaller tumour diameter (14.6 ± 15.0 vs 20.1 ± 13.0 mm; p = 0.005), and none had pituitary apoplexy (vs 8.2%; p = 0.026) in comparison to AIP mut PitNETs. MEN1 mut PitNET patients required fewer treatments (1.0 ± 1.0 vs 2.1 ± 1.7; P < 0.001) and fewer operations (0.2 ± 0.5 vs 0.9 ± 0.8; P < 0.001), less radiotherapy (13.4 vs 32.9%; p = 0.003) and fewer multimodal treatments (30.4 vs 67.2%; P < 0.001), and had a 5.5-fold less active disease at last follow-up (4.7 vs 25.0%; p = 0.004) than AIP mut PitNETs.
When comparing individual tumour types, AIP mut somatotropinomas had higher rates of macroadenomas (90.0 vs 51.7%; P = 0.009), extrasellar extension (75.7 vs 25.0%; P = 0.026) and required more operations (1.1 ± 0.8 vs 0.4 ± 0.5; P = 0.009) than MEN1 mut somatotropinomas, and showed a trend for more cavernous sinus invasion (41.9 vs 0%; P = 0.096). MEN1 mut prolactinomas had lower pituitary apoplexy rate (0 vs 16.7%; P = 0.016) and a trend for lower rates hypopituitarism at diagnosis (30.3 vs 62.5%; P = 0.090) with fewer pituitary deficiencies (0.5 ± 0.9 vs 1.4 ± 1.5; P = 0.066), and fewer operations (0.2 ± 0.4 vs 0.4 ± 0.5; P = 0.072) than AIP mut prolactinomas. NF-PitNET did not differ between MEN1 mut and AIP mut patients, except regarding age at first symptoms (higher in MEN1 subgroup, 53.5 ± 5.0 vs 22.6 ± 7.7 yr; P = 0.040).
Conclusions: AIPmut PitNETs are in general more aggressive than MEN1mut PitNETs. This is dominated by more aggressive disease in AIPmut prolactinomas and somatotropinomas compared to MEN1mut prolactinomas and somatotropinomas, while AIPmut and MEN1mut NF-PitNETs (some of those possibly representing incidentalomas) may show an indolent course of disease and often require no treatment.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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