Sonia De Francesco
University of Siena
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Featured researches published by Sonia De Francesco.
Acta Ophthalmologica | 2013
Carlo Venturi; Sandra Bracco; Alfonso Cerase; Samuele Cioni; Paolo Galluzzi; Paola Gennari; Ignazio Maria Vallone; Rebecca Tinturini; Cesare Vittori; Sonia De Francesco; Mauro Caini; Alfonso D’Ambrosio; Paolo Toti; Alessandra Renieri; Theodora Hadjistilianou
Purpose: To report our experience in superselective ophthalmic artery infusion of melphalan (SOAIM) for intraocular retinoblastoma.
Acta Oncologica | 2008
Katia Sampieri; Maria Antonietta Mencarelli; Maria Carmela Epistolato; Paolo Toti; Stefano Lazzi; Mirella Bruttini; Sonia De Francesco; Ilaria Longo; Ilaria Meloni; Francesca Mari; Antonio Acquaviva; Theodora Hadjistilianou; Alessandra Renieri; Francesca Ariani
Introduction. Genomic copy number changes are involved in the multi-step process transforming normal retina in retinoblastoma after RB1 mutational events. Previous studies on retinoblastoma samples led to a multi-step model in which after two successive RB1 mutations, further genomic changes accompany malignancy: 1q32.1 gain is followed by 6p22 gain, that in turn is followed by 16q22 loss and 2p24.1 gain. Retinoma is a benign variant of retinoblastoma that was initially considered a tumor regression, but recent evidences suggest that it rather represents a pre-malignant lesion. Genetic studies on retinoma tissue have rarely been performed. Materials and methods. We investigated by Real-Time qPCR, copy number changes of candidate genes located within the 4 hot-spot regions (MDM4 at 1q32.1, MYCN at 2p24.1, E2F3 at 6p22 and CDH11 at 16q22) in retina, retinoma and retinoblastoma tissues from two different patients. Results. Our results demonstrated that some copy number changes thought to belong to early (MDM4 gain) or late stage (MYCN and E2F3 gain) of retinoblastoma are already present in retinoma at the same (for MDM4) or at lower (for MYCN and E2F3) copy number variation respect to retinoblastoma. CDH11 copy number is not altered in the two retinoma samples, but gain is present in one of the two retinoblastomas. Discussion. Our results suggest that MDM4 gain may be involved in the early transition from normal retina to retinoma, while MYCN and E2F3 progressive gain may represent driving factors of tumor progression. These results also confirm the pre-malignant nature of retinoma.
Cancer Science | 2009
Katia Sampieri; Mariangela Amenduni; Filomena Tiziana Papa; Eleni Katzaki; Maria Antonietta Mencarelli; Annabella Marozza; Maria Carmela Epistolato; Paolo Toti; Stefano Lazzi; Mirella Bruttini; Roberta De Filippis; Sonia De Francesco; Ilaria Longo; Ilaria Meloni; Francesca Mari; Antonio Acquaviva; Theodora Hadjistilianou; Alessandra Renieri; Francesca Ariani
In retinoblastoma, two RB1 mutations are necessary for tumor development. Recurrent genomic rearrangements may represent subsequent events required for retinoblastoma progression. Array‐comparative genomic hybridization was carried out in 18 eye samples, 10 from bilateral and eight from unilateral retinoblastoma patients. Two unilateral cases also showed areas of retinoma. The most frequent imbalance in retinoblastomas was 6p gain (40%), followed by gains at 1q12‐q25.3, 2p24.3‐p24.2, 9q22.2, and 9q33.1 and losses at 11q24.3, 13q13.2‐q22.3, and 16q12.1‐q21. Bilateral cases showed a lower number of imbalances than unilateral cases (P = 0.002). Unilateral cases were divided into low‐level (≤4) and high‐level (÷7) chromosomal instability groups. The first group presented with younger age at diagnosis (mean 511 days) compared with the second group (mean 1606 days). In one retinoma case ophthalmoscopically diagnosed as a benign lesion no rearrangements were detected, whereas the adjacent retinoblastoma displayed seven aberrations. The other retinoma case identified by retrospective histopathological examination shared three rearrangements with the adjacent retinoblastoma. Two other gene‐free rearrangements were retinoma specific. One rearrangement, dup5p, was retinoblastoma specific and included the SKP2 gene. Genomic profiling indicated that the first retinoma was a pretumoral lesion, whereas the other represents a subclone of cells bearing ‘benign’ rearrangements overwhelmed by another subclone presenting aberrations with higher ‘oncogenic’ potential. In summary, the present study shows that bilateral and unilateral retinoblastoma have different chromosomal instability that correlates with the age of tumor onset in unilateral cases. This is the first report of genomic profiling in retinoma tissue, shedding light on the different nature of lesions named ‘retinoma’. (Cancer Sci 2009; 100: 465–471)
Pathology & Oncology Research | 2012
Gabriella Livide; Maria Carmela Epistolato; Mariangela Amenduni; Vittoria Disciglio; Annabella Marozza; Maria Antonietta Mencarelli; Paolo Toti; Stefano Lazzi; Theodora Hadjistilianou; Sonia De Francesco; Alfonso D’Ambrosio; Alessandra Renieri; Francesca Ariani
Retinoblastoma is the most common primary intraocular malignancy in children. Two step inactivation of RB1 (M1-M2) represents the key event in the pathogenesis of retinoblastoma but additional genetic and epigenetic events (M3-Mn) are required for tumor development. In the present study, we employed Methylation Specific Multiplex Ligation Probe Assay to investigate methylation status and copy number changes of 25 and 39 oncosuppressor genes, respectively. This technique was applied to analyse 12 retinoblastomas (5 bilateral and 7 unilateral) and results were compared to corresponding normal retina. We identified hypermethylation in seven new genes: MSH6 (50%), CD44 (42%), PAX5 (42%), GATA5 (25%), TP53 (8%), VHL (8%) and GSTP1 (8%) and we confirmed the previously reported hypermethylation of MGMT (58%), RB1 (17%) and CDKN2 (8%). These genes belong to key pathways including DNA repair, pRB and p53 signalling, transcriptional regulation, protein degradation, cell-cell interaction, cellular adhesion and migration. In the same group of retinoblastomas, a total of 29 copy number changes (19 duplications and 10 deletions) have been identified. Interestingly, we found deletions of the following oncosuppressor genes that might contribute to drive retinoblastoma tumorigenesis: TP53, CDH13, GATA5, CHFR, TP73 and IGSF4. The present data highlight the importance of epigenetic changes in retinoblastoma and indicate seven hypermethylated oncosuppressors never associated before to retinoblastoma pathogenesis. This study also confirms the presence of copy number variations in retinoblastoma, expecially in unilateral cases (mean 3 ±1.3) where these changes were found more frequently respect to bilateral cases (mean 1.4 ± 1.1).
International Journal of Cancer | 2007
Domenico Mastrangelo; Sonia De Francesco; Aldo Di Leonardo; Laura Lentini; Theodora Hadjistilianou
Retinoblastoma (Rb) is the most common intraocular malignant tumour in childhood, with an incidence of 1 in 15,000 live births. Complete information on this rare tumour can be easily accessed through the internet, although many aspect concerning the aetiology and pathogenesis of the disease, are still controversial. The “two hit” theory, formulated in 1971 to explain the variegated clinical expression of the disease, is based on the idea that single gene mutation may determine the development of cancer. However, this view does not take into account the most recent evidences showing the role of aneuploidy and chromosome instability in cancer. Also, a number of other genes and epigenetic mechanisms are involved in the genesis of retinoblastoma. More importantly, the “two hit” theory makes predictions, concerning the age distribution of the tumour, its mode of “transmission” (hereditary retinoblastoma), and its pathogenesis, which are not fulfilled by the clinical reality. Overall, the “two hit” theory represents a rather simplistic and outdated model to explain tumour development and clinical evolution of retinoblastoma.
European Journal of Human Genetics | 2015
Sara Amitrano; Annabella Marozza; Serena Somma; Valentina Imperatore; Theodora Hadjistilianou; Sonia De Francesco; Paolo Toti; Daniela Galimberti; Ilaria Meloni; Francesco Cetta; Pietro Piu; Chiara Di Marco; Laura Dosa; Caterina Lo Rizzo; Giulia Carignani; Maria Antonietta Mencarelli; Francesca Mari; Alessandra Renieri; Francesca Ariani
In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this technology, we re-tested a series of 40 patients with sporadic retinoblastoma: 10 of them had been previously classified as constitutional heterozygotes, whereas in 30 no RB1 mutations had been found in lymphocytes. In 3 of these 30 patients, we have now identified low-level mosaic variants, varying in frequency between 8 and 24%. In 7 out of the 10 cases previously classified as heterozygous from testing blood cells, we were able to test additional tissues (ocular tissues, urine and/or oral mucosa): in three of them, next generation sequencing has revealed mosaicism. Present results thus confirm that a significant fraction (6/40; 15%) of sporadic retinoblastoma cases are due to postzygotic events and that deep sequencing is an efficient method to unambiguously distinguish mosaics. Re-testing of retinoblastoma patients through next generation sequencing can thus provide new information that may have important implications with respect to genetic counseling and family care.
Orbit | 2015
Sandra Bracco; Carlo Venturi; Sara Leonini; Daniele Giuseppe Romano; Samuele Cioni; Ignazio Maria Vallone; Paola Gennari; Paolo Galluzzi; Theodora Hadjistilianou; Sonia De Francesco; Daria Guglielmucci; Francesca Tarantino; Eugenio Bertelli
ABSTRACT Purpose: Angiography is a powerful tool to identify intraorbital arteries. However, the incidence by which these vessels can be identified is unknown. Our purpose was to determine such incidence and which angiographic approach is best for the identification of each artery. Methods: A retrospective study of 353 angiographic procedures (via ophthalmic artery and/or external carotid artery) carried out on 79 children affected by intraocular retinoblastoma was made to investigate the arterial anatomy in 87 orbits. For each intraorbital artery two parameters were calculated: the angiographic incidence, as the percentage of times a given artery was identified, and the visibility index, as the ratio between the angiographic incidence and the true anatomic incidence. Results: All collaterals of the ophthalmic artery could be spotted. Most of them were identified with a high angiographic incidence; some of them were less easily identified because too thin or because frequently shielded. The visibility index paralleled the angiographic incidence of most arteries. However, the lacrimal and meningolacrimal arteries had a higher visibility index suggesting that their identification was more frequent than the angiographic incidence alone could suggest. Statistical analysis demonstrated that the lacrimal artery and some muscular branches had higher chances to be identified if the angiography of the ophthalmic artery was accompanied by the study of the external carotid system. Conclusion: This work provides an objective measure of how powerful angiography is to identify intraorbital arteries as well as useful references for professionals who need to operate in the orbit.
Clinical and Experimental Ophthalmology | 2012
Theodora Hadjistilianou; Stefania Giglioni; L Micheli; Daniela Vannoni; Elena Brogi; Gabriele Cevenini; Alessio Cortelazzo; Sonia De Francesco; Felice Menicacci; Roberto Leoncini
Background: To investigate aqueous humour protein composition from retinoblastoma patients.
Journal of Human Genetics | 2011
Maria Carmela Epistolato; Vittoria Disciglio; Gabriella Livide; Paola Berchialla; Maria Antonietta Mencarelli; Annabella Marozza; Mariangela Amenduni; Theodora Hadjistilianou; Sonia De Francesco; Antonio Acquaviva; Paolo Toti; Francesco Cetta; Francesca Ariani; Mario Marchi; Alessandra Renieri; Daniela Giachino
The tumor suppressor p53 and its negative regulator MDM2 have crucial roles in a variety of cellular functions such as the control of the cell cycle, senescence, genome stability and apoptosis, and are frequently deregulated in carcinogenesis. Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li–Fraumeni syndrome. Their possible role in retinoblastoma has recently been addressed by Castéra et al, who however only studied the MDM2 309SNP. Here, for the first time, we analyzed both single nucleotide polymorphisms (SNPs) in a case–control study of 111 Italian hereditary retinoblastoma patients. We found a significant association of the p53 Pro/Pro genotype with the disease (odds ratio=3.58, P=0.002). The MDM2 309SNP showed a weak negative association of allele G that deserves further investigation. These findings further support the hypothesis that genetic variability of the p53 pathway contributes to the individual susceptibility to retinoblastoma, as shown for Li–Fraumeni syndrome and a variety of non-hereditary cancers.
Journal of Neuro-oncology | 2010
Alfonso Cerase; Sonia De Francesco; Alberto Citterio; Theodora Hadjistilianou; Alex Malandrini; Domenico Mastrangelo; Paolo Toti; Carlo Venturi
The purpose of this study was to describe the growth pattern of congenital malignant teratoid medulloepithelioma of the ciliary body by reporting clinical and imaging findings with pathological correlation. An 11-month-old little girl presented with a whitish-pink iris mass in the right eye resulting from a small ciliary body mass consistent with medulloepithelioma at both clinical and computed tomography (CT) findings. At CT, the lesion showed heterogeneous attenuation, without intraocular calcifications. Eleven months later, clinical and ultrabiomicroscopy showed a clear enlargement of the mass, which invaded the pupil. At magnetic resonance imaging (MRI), the lesion showed T1-weighted hyperintensity and T2-weighted slight hypointensity when compared to the vitreous and a notch in the anterolateral aspect of the ipsilateral lens. After intravenous gadolinium administration, the lesion showed intense homogeneous enhancement, and there was leakage of gadolinium in the anterior chamber, resulting from impairment of blood-aqueous barrier. Biopsy revealed a malignant teratoid medulloepithelioma. The eye was then enucleated, and histology confirmed the diagnosis. Systemic chemotherapy and radiotherapy were not performed, since there was no extraocular extension. The 57-month clinical and MRI follow-up did not show disease relapse. This uncommon case displays the natural history of congenital malignant teratoid medulloepithelioma of the ciliary body. While the tumour might have been successfully treated by local excision at diagnosis, the delay in surgical treatment led to tumour overgrowth with consequent need for enucleation. The most important prognostic feature is extraocular extension, which carries a risk of local recurrence, eventually resulting in intracranial extension and/or lymphatic spread.