👤 Teresa Vanessa Fiorentino

Testicular adult granulosa cell tumors (AGCTs) are rare and show several clinical, pathological, and molecular differences with their ovarian counterparts. FOXL2 p.Cys134Trp, the ubiquitous molecular driver of ovarian AGCTs, is infrequent (~ 7%) in testicular AGCTs. Recently, FGFR1 hotspot mutations were reported as a potentially "alternative molecular driver" in FOXL2-wild type (WT) ovarian AGCTs. A systematic assessment of FGFR1 status has not been performed in testicular AGCTs. Recently, our group analyzed a series of twenty testicular AGCTs using two NGS panels that lacked coverage of FGFR1. Among twelve cases analyzed successfully, none harbored pathogenic FOXL2 variants. In this study, we reassessed the tumors from our prior series with an NGS panel that covers FGFR1. Among the 14 tumors (70%) that were sequenced successfully, none harbored pathogenic FGFR1 variants. Considering the AGCTs assessed in this study and those previously reported in the literature, none of the 24 tumors analyzed to date have shown pathogenic FGFR1 variants. The present study reinforces the concept that testicular sex cord-stromal tumors classified as AGCTs are different from ovarian counterparts. Show less

Food addiction (FA) has gained more scientific attention but needs deeper understanding. Data indicates that the central melanocortin (MC) system through the MC4 receptor (MC4R) and its polymorphisms play a crucial role in the regulation of eating behaviour and in the motivation for the rewarding properties of food potentially leading to obesity. This may also contribute to the emergence of altered reward-related behaviors such as FA. The study aims to evaluate the genetic contribution of rs17782313, rs12970134, rs10871777, rs6567160, rs17700144 MC4R polymorphisms to the development of FA and to assess the association between these MC4R variations and clinical features. Eating (EDE-Q, BES, NEQ, GQ) and general psychopathology (BDI-II, STAI-S, DERS) were evaluated in patients with obesity with and without FA. Y-FAS 2.0 was used to assess FA. A blood sample was collected from all patients for the genotyping of MC4R polymorphisms. All the polymorphisms were equally distributed between groups except for rs17782313. A direct association between rs17782313 with FA was evident. Patients with FA and with C allele showed higher risk of FA compared to group without FA. There was a significant effect of rs17782313 on psychopathological variables in patients with FA. Allele C carriers exhibited higher anxiety and depression than T carriers. The rs17782313 of the MC4R showed an association with FA. A significant direct influence of C allele on anxiety and depression emerged in the group with FA but not in patients without FA. Show less