ECE2023 Poster Presentations Pituitary and Neuroendocrinology (123 abstracts)
Somatotroph Pituitary Neuroendocrine Tumors (Pitnets)/Adenomas Expressing Steroidogenic Factor (SF1)
Federica Guaraldi 1 , Federico Roncaroli 2 , Chiara Villa 3 , Matteo Zoli 1 , Mueez Waqar 2 , Claire Higham 4 , Imogen Lally 5 , Bertrand Baussart 6 , Guillaume Assié 7 , Luca Morandi 8 , Diego Mazzatenta 1 & Sofia Asioli 8
1IRCCS Istituto delle Scienze Neurologiche di Bologna, Pituitary Unit, Bologna, Italy; 2University of Manchester, Geoffrey Jefferson Brain Research Centre, Division of Neuroscience, Manchester, United Kingdom; 3Hôpital Universitaire Pitié-Salpêtrière, APHP, Sorbonne Université, Department of Neuropathology, Paris, France; 4Christie Foundation Trust, Department of Endocrinology, Manchester, United Kingdom; 5Northern Care Alliance, Department of Cellular Pathology, Salford, United Kingdom; 6Hôpital Universitaire Pitié-Salpêtrière, APHP, Sorbonne Université, Department of Neurosurgery, Paris, France; 7Hôpital Cochin APHP, Department of Endocrinology, Center for Rare Adrenal Diseases, Paris, France; 8University of Bologna, Department of Biomedical and Neuromotor Sciences (DIBINEM), Bologna, Italy
Rationale and aim: A recent pangenomic study documented a subset of somatotroph mostly GNAS-wildtype PitNET/adenomas co-express steroidogenic factor 1 (SF1). Aim of our study was to investigate clinical and molecular features of a cohort of these tumour subtype.
Study sample: We identified 20 cases of SF1-expressing somatotropinomas out of 173 (11.6%) operated via transsphenoidal endoscopic approach in 3 referral Pituitary Centers patients. Pre- and post-operative biochemical and imaging, histopathological data, and follow-up were available.
Results: The cohort included 10 male and 10 female patients with a mean age at surgery of 50.2±14.9 years (range 27-70.4; median 47.1). Eighteen patients (80%) presented with clinical and biochemical features typical of acromegaly. Mean tumor maximum size was 17.2 ± 7.5 cm; 17 (85%; 10 males) were macro PitNET/adenomas, of which 9 (45%) showed cavernous sinus invasion, and 2 (10%) with sphenoid sinus invasion. Resection was total in 14 patients (70%) and 6 had subtotal resection (30%). At follow-up, acromegaly relapsed in 4 (20%). Molecular analysis identified a pathogenic mutation of NOTCH (p. N335K; VAF17%) and GNAS (p. R201C; VAF61%) in a male aged 50.8 years, with a non-invasive tumour and post-surgical disease relapse. No mutations were found in KRAS, BRAF, TP53, PIK3CA, CDKN2A, TERT, PTEN, FBXW7, EP300, CASP8, AIP and USP8.
Conclusions: Patients with somatotroph PitNET/adenomas expressing SF1 typically present with large and invasive tumours, with overt clinical and biochemical features of acromegaly. Most of the cases are GNAS-WT. The incidence of tumour recurrence and disease relapse is similar to the known relapse rate in acromegaly patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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