Silent gonadotroph pituitary neuroendocrine tumor in a patient with tuberous sclerosis complex: evaluation of a possible molecular link

Endocrinology, Diabetes & Metabolism Case Reports
Daniela RegazzoFilippo Ceccato

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem hereditary cutaneous condition, characterized by multiple hamartomas. In rare cases, pituitary neuroendocrine tumors (PitNETs) have been described in patients with TSC, but the causal relationship between these two diseases is still under debate. TSC is mostly caused by mutations of two tumor suppressor genes, encoding for hamartin (TSC1) and tuberin (TSC2), controlling cell growth and proliferation. Here, we present the case of a 62-year-old Caucasian woman with TSC and a silent gonadotroph PitNET with suprasellar extension, treated with transsphenoidal endoscopic neurosurgery with complete resection. Therapeutic approaches based on mTOR signaling (i.e. everolimus) have been successfully used in patients with TSC and tested in non-functioning PitNET cellular models with promising results. Here, we observed a reduction of cell viability after an in vitro treatment of PitNET's derived primary cells with everolimus. TSC analysis retrieved no disease-associated variants with the exception of the heterozygous intronic variant c.4006-71C>T found in TSC2: the computational tools predicted a gain of a new splice site with consequent intron retention, not confirmed b...Continue Reading

References

Sep 14, 2006·The Journal of Clinical Endocrinology and Metabolism·Adrian F DalyAlbert Beckers
Aug 30, 2008·Lancet·Paolo CuratoloSergiusz Jozwiak
Nov 4, 2008·Endocrine-related Cancer·Dorota Dworakowska, Ashley B Grossman
Dec 8, 2009·The Journal of Clinical Endocrinology and Metabolism·Maria Chiara ZatelliEttore C Degli Uberti
Feb 12, 2010·Annals of the New York Academy of Sciences·Ksenia A Orlova, Peter B Crino
Aug 23, 2011·Pituitary·Emmanuel JouanneauGérald Raverot
Jun 15, 2015·Annales d'endocrinologie·Philippe ChansonUNKNOWN French Endocrinology Society non-functioning pituitary adenoma work-group

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Citations

Mar 24, 2020·Endocrine Reviews·Vinaya Srirangam Nadhamuni, Márta Korbonits
Dec 28, 2019·Journal of Clinical Medicine·Christina Tatsi, Constantine A Stratakis
Apr 4, 2021·Journal of Clinical Medicine·Anna Bogusławska, Márta Korbonits
May 25, 2021·Frontiers in Endocrinology·Benjamin ChevalierMarie Christine Vantyghem

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Human Splicing Finder
MutationTaster

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