2018

Next-generation sequencing identified a novel PLP1 deletion in a proband with connatal Pelizaeus-Merzbacher disease. Giovanni Savarese, Francesca Felicia Operto, Raffaella Ruggiero, Alfonso Ciriello, Luigia De Falco, Roberta Mazza, Fausta Piscopo, Alberto Verrotti, Giangennaro Coppola, Alessandro Frolli. Current Pediatric Research (2018) Volume 22, Issue 4

2019 

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing. L.De Falco, G.Savarese, T.Suero, S.Amabile, R.Ruggiero, P.Savarese, A.Fico. Clin Case Rep.2019 Oct; 7(10): 1977–1981. doi: 10.1002/ccr3.2389

2020 

Genetic trajectory and immune microenvironment of lung-specific oligometastatic colorectal cancer Ottaiano, Circelli et al. Cell Death Dis. 2020 Apr; 11(4): 275.doi:10.1038/s41419-020-2480-6.

Evolution of Mutational Landscape and Tumor Immune-Microenvironment in Liver Oligo-Metastatic Colorectal Cancer Ottaiano, Circelli et al. Cancers 2020, 12(10), 3073; https://doi.org/10.3390/cancers12103073

Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy. Caiazza, Evangelista, et al.  Genes 11.8 (2020): 947.

2021 

KRAS mutational regression is associated with oligo-metastatic status and good prognosis in metastatic colorectal cancer. Ottaiano, Circelli et al. (2021) Frontiers in Oncology, doi: 10.3389/fonc.2021.632962.

Performance of Cell-Free DNA Sequencing-Based Non-invasive Prenatal Testing: Our Experience on 36456 both Singleton and Multiple Pregnancies. La Verde, M., De Falco, L., Torella, A., Savarese, G., Savarese, P., Ruggiero, R., … & Fico, A. (2021) BMC Medical Genomics 14, Article number: 93 (2021).

Genetic regressive trajectories in colorectal cancer: A new hallmark of oligo-metastatic disease? Alessandro Ottaiano, Mariachiara Santorsola, Michele Caraglia, Luisa Circelli, Valerio Gigantino, Gerardo Botti, Guglielmo Nasti  Translational Oncology,Volume 14, Issue 8, 2021

Prospective Evaluation of Radiotherapy-Induced Immunologic and Genetic Effects in Colorectal Cancer Oligo-Metastatic Patients with Lung-Limited Disease: The PRELUDE-1 Study.  Ottaiano A, Petito A, Santorsola M, Gigantino V, Capuozzo M, Fontanella D, Di Franco R, Borzillo V, Buonopane S, Ravo V, Scipilliti E, Totaro G, Serra M, Ametrano G, Penta R, Tatangelo F, Scognamiglio G, Di Mauro A, Di Bonito M, Napolitano M, Scala S, Rea G, Santagata S, Lombardi A, Grimaldi A, Caputo C, Crispo A, Celentano E, De Feo G, Circelli L, Savarese G, Ruggiero R, Perri F, Granata V, Botti G, Caraglia M, Nasti G, Muto P.  Cancers. 2021; 13(16):4236. https://doi.org/10.3390/cancers13164236

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome. Rocchetti, L.; Evangelista, E.; De Falco, L.; Savarese, G.; Savarese, P.; Ruggiero, R.; D’Amore, L.; Sensi, A.; Fico, A.  Genes 2021, 12, 1328. https://doi.org/10.3390/genes12091328

Vitamin D deficiency and tumor aggressiveness in gastroenteropancreatic neuroendocrine tumors. Barbara Altieri, Luigi Barrea, Roberta Modica, Filomena Bottiglieri, Federica de Cicco, Giovanna Muscogiuri, Luisa Circelli,Giovanni Savarese, Carolina Di Somma, Silvia Savastano, Annamaria Colao & Antongiulio Faggiano Endocrine (2021).   https://doi.org/10.1007/s12020-021-02869-w

First Genomic Evidence of Dual African Swine Fever Virus Infection: Case Report from Recent and Historical Outbreaks in Sardinia Mariangela Stefania Stefania Fiori,Daria Sanna, Fabio Scarpa, Matteo Floris, Antonello Di Di Nardo, Luca Ferretti, Federica Loi, Stefano Cappai, Anna Maria Maria Sechi, Pier Paolo Paolo Angioi, Susanna Zinellu, Roberto Sirica, Eloisa Evangelista, Marco Casu, Giulia Franzoni, Annalisa Oggiano e Silvia Dei Dei Giudici  Viruses 2021, 13(10), 1994; https://doi.org/10.3390/v13101994

A Deeper Insight into Evolutionary Patterns and Phylogenetic History of ASFV Epidemics in Sardinia (Italy) through Extensive Genomic Sequencing. Mariangela Stefania Fiori, Luca Ferretti, Matteo Floris, Federica Loi, Antonello Di Nardo, Anna Maria Sechi, Anna Ladu, Graziella Puggioni, Daria Sanna, Fabio Scarpa, Maria Luisa Sanna, Maria Paola Madrau, Claudia Torresi, Roberto Sirica, Eloisa Evangelista, Annalisa Oggiano and Silvia Dei Giudici Viruses 2021, 13(11), 2145; https://doi.org/10.3390/v13112145

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing. De Falco L, Piscopo C, D’Angelo R, Evangelista E, Suero T, Sirica R, Ruggiero R, Savarese G, Di Carlo A, Furino G, Scarpato C, Fico A.  Genes. 2021; 12(12):1890. https://doi.org/10.3390/genes12121890

2022

Clinical and Molecular Characteristics of Rare Malignant Tumors of Colon and Rectum.Ottaiano, A.; Santorsola, M.; Perri, F.; Pace, U.; Marra, B.; Correra, M.; Sabbatino, F.; Cascella, M.; Petrillo, N.; Ianniello, M.; Casillo, M.; Misso, G.; Delrio, P.; Caraglia, M.; Nasti, G. Biology 2022, 11, 267. https://doi.org/10.3390/biology11020267

PD-L1 Overexpression in the Lungs of Subjects Who Died from COVID-19: Are We on the Way to Understanding the Immune System Exhaustion Induced by SARS-CoV-2? Andrea Ronchi, Federica Zito Marino, Emma Carraturo, Elvira La Mantia, Carlo Pietro Campobasso, Francesco De Micco, Pasquale Mascolo, Maurizio Municinò, Emilia Mucininò, Francesco Vestini, Omero Pinto, Marta Moccia, Noè De Stefano, Oscar Nappi, Carmen Sementa, Giovanni Zotti, Lamberto Pianese, Carmela Giordano, Antonio Fico,Renato Franco Critical Reviews TM in Eukaryotic Gene Expression, 32(3):9 – 20 (2022)

KRAS p.G12C Mutation in Metastatic Colorectal Cancer: Prognostic Implications and Advancements in Targeted Therapies. Ottaiano A, Sabbatino F, Perri F, Cascella M, Sirica R, Patrone R, Capuozzo M, Savarese G, Ianniello M, Petrillo N, Circelli L, Granata V, Berretta M, Santorsola M, Nasti G. Antonio Fico, Renato Franco Critical Reviews TM in Eukaryotic Gene Expression, 32(3):9 – 20 (2022)

Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions
Ottaiano A, Circelli L, Santorsola M, Savarese G, Fontanella D, Gigantino V, Di Mauro A, Capuozzo M, Zappavigna S, Lombardi A, Perri F, Cascella M, Granata V, Capuozzo M, Nasti G, Caraglia M. Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions. Mol Oncol. 2022 Jan;16(2):319-332. doi: 10.1002/1878-0261.13122. Epub 2021 Nov 19. PMID: 34668636; PMCID: PMC8763648.

Vitamin D deficiency and tumor aggressiveness in gastroenteropancreatic neuroendocrine tumors
Altieri B, Barrea L, Modica R, Bottiglieri F, de Cicco F, Muscogiuri G, Circelli L, Savarese G, Di Somma C, Savastano S, Colao A, Faggiano A. Vitamin D deficiency and tumor aggressiveness in gastroenteropancreatic neuroendocrine tumors. Endocrine. 2022 Feb;75(2):623-634. doi: 10.1007/s12020-021-02869-w. Epub 2021 Sep 17. PMID: 34533768.

Microsatellite Status Detection in Gastrointestinal Cancers: PCR/NGS Is Mandatory in Negative/Patchy MMR Immunohistochemistry
Zito Marino F, Amato M, Ronchi A, Panarese I, Ferraraccio F, De Vita F, Tirino G, Martinelli E, Troiani T, Facchini G, Pirozzi F, Perrotta M, Incoronato P, Addeo R, Selvaggi F, Lucido FS, Caraglia M, Savarese G, Sirica R, Casillo M, Lieto E, Auricchio A, Cardella F, Docimo L, Galizia G, Franco R. Microsatellite Status Detection in Gastrointestinal Cancers: PCR/NGS Is Mandatory in Negative/Patchy MMR Immunohistochemistry. Cancers (Basel). 2022 Apr 28;14(9):2204. doi: 10.3390/cancers14092204. PMID: 35565332; PMCID: PMC9102010.

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis
De Falco L, Suero T, Savarese G, Savarese P, Ruggiero R, Di Carlo A, Bruno M, Petrillo N, Ianniello M, Scarpato C, Sarli C, Fico A. Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis. Diagnostics (Basel). 2022 Jun 29;12(7):1591. doi: 10.3390/diagnostics12071591. PMID: 35885497; PMCID: PMC9321121.

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling
Feresin A, Stampalija T, Cappellani S, Bussani R, Faletra F, Murru F, Ulivi S, Suergiu S, Savarese P, Pedicini A, Policicchio M, Ruggiero R, Bosio B, Savarese G, Ardisia C. Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling. Front Genet. 2022 Oct 25;13:982508. doi: 10.3389/fgene.2022.982508. PMID: 36386832; PMCID: PMC9642548.

Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows
Montella M, Ciani G, Granata V, Fusco R, Grassi F, Ronchi A, Cozzolino I, Franco R, Zito Marino F, Urraro F, Monti R, Sirica R, Savarese G, Chianese U, Nebbioso A, Altucci L, Vietri MT, Nardone V, Reginelli A, Grassi R. Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows. J Pers Med. 2022 Nov 12;12(11):1896. doi: 10.3390/jpm12111896. PMID: 36422072; PMCID: PMC9698369.

Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection
Ottaiano A, Santorsola M, Circelli L, Cascella M, Petrillo N, Perri F, Casillo M, Granata V, Ianniello M, Izzo F, Picone C, Correra M, Petrillo A, Sirica R, Misso G, Delrio P, Nasti G, Savarese G, Caraglia M. Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection. Ther Adv Med Oncol. 2022 Dec 8;14:17588359221138388. doi: 10.1177/17588359221138388. PMID: 36518158; PMCID: PMC9742504.

2023

Hypertension, type 2 diabetes, obesity, and p53 mutations negatively correlate with metastatic colorectal cancer patients’ survival
Ottaiano A, Santorsola M, Circelli L, Perri F, Cascella M, Sabbatino F, Capuozzo M, Granata V, Zappavigna S, Lombardi A, Scrima M, Petrillo N, Ianniello M, Casillo M, Gualillo O, Nasti G, Caraglia M, Savarese G. Hypertension, type 2 diabetes, obesity, and p53 mutations negatively correlate with metastatic colorectal cancer patients’ survival. Front Med (Lausanne). 2023 Jan 23;10:1091634. doi: 10.3389/fmed.2023.1091634. PMID: 36756182; PMCID: PMC9899824.

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma
De Falco L, Vitiello G, Savarese G, Suero T, Ruggiero R, Savarese P, Ianniello M, Petrillo N, Bruno M, Legnante A, Passaretti FF, Ardisia C, Di Spiezio Sardo A, Fico A. A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma. Genes (Basel). 2023 Mar 7;14(3):668. doi: 10.3390/genes14030668. PMID: 36980940; PMCID: PMC10048202.

Oligo-Metastatic Cancers: Putative Biomarkers, Emerging Challenges and New Perspectives.
Ottaiano A, Santorsola M, Circelli L, Trotta AM, Izzo F, Perri F, Cascella M, Sabbatino F, Granata V, Correra M, Tarotto L, Stilo S, Fiore F, Martucci N, Rocca A, Picone C, Muto P, Borzillo V, Belli A, Patrone R, Mercadante E, Tatangelo F, Ferrara G, Di Mauro A, Scognamiglio G, Berretta M, Capuozzo M, Lombardi A, Galon J, Gualillo O, Pace U, Delrio P, Savarese G, Scala S, Nasti G, Caraglia M.
Cancers (Basel). 2023 Mar 17;15(6):1827. doi: 10.3390/cancers15061827. PMID: 36980713

Primary Cutaneous B-Cell Lymphomas with Large Cell Morphology: A Practical Review.

Ronchi A, Vitiello P, D’Abbronzo G, Caccavale S, Argenziano G, Sica A, Alfano R, Savarese G, Berretta M, Cozzolino I, Franco R.

Int J Mol Sci. 2023 Mar 25;24(7):6204. doi: 10.3390/ijms24076204.

PMID: 37047176

Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.

De Falco L, Savarese G, Savarese P, Petrillo N, Ianniello M, Ruggiero R, Suero T, Barbato C, Mori A, Ramiro C, Della Corte L, Saccone G, Di Spiezio Sardo A, Fico A.

Genes (Basel). 2023 Apr 26;14(5):982. doi: 10.3390/genes14050982.

PMID: 37239342

The prognostic role of p53 mutations in metastatic colorectal cancer: A systematic review and meta-analysis.

Ottaiano A, Santorsola M, Capuozzo M, Perri F, Circelli L, Cascella M, Ianniello M, Sabbatino F, Granata V, Izzo F, Iervolino D, Casillo M, Petrillo N, Gualillo O, Nasti G, Savarese G.

Crit Rev Oncol Hematol. 2023 Jun;186:104018. doi: 10.1016/j.critrevonc.2023.104018. Epub 2023 May 5.

PMID: 37150312

An Innovative Low-Power, Low-Cost, Multi-Constellation Geodetic-Grade Global Navigation Satellite System Reference Station for the Densification of Permanent Networks: The GREAT Project.

Curone D, Savarese G, Antonini M, Baucry R, Amani E, Boulandet A, Cataldo M, Chambon P, Chersich M, Hussein AB, Menuel B, Tsaturyan A.

Sensors (Basel). 2023 Jun 29;23(13):6032. doi: 10.3390/s23136032.

PMID: 37447880

KRAS p.G12C Mutation in Metastatic Colorectal Cancer: Prognostic Implications and Advancements in Targeted Therapies.

Ottaiano A, Sabbatino F, Perri F, Cascella M, Sirica R, Patrone R, Capuozzo M, Savarese G, Ianniello M, Petrillo N, Circelli L, Granata V, Berretta M, Santorsola M, Nasti G.

Cancers (Basel). 2023 Jul 12;15(14):3579. doi: 10.3390/cancers15143579.

Application of CytoMatrix for the diagnosis of melanoma metastases on FNA cytology samples: Performance of a novel cell block method.

Montella M, Cozzolino I, Zito Marino F, Clery E, Carraturo E, Brancaccio G, Argenziano G, Troiani T, Savarese G, Berretta M, Franco R, Ronchi A.

Cancer Cytopathol. 2023 Aug;131(8):516-525. doi: 10.1002/cncy.22707. Epub 2023 May 17.

PMID: 37195098

Analysis of microsatellite instability (MSI) in pediatric gonadal and extra-gonadal germ cell tumors.

Montella M, Errico ME, Ronchi A, Zannini G, Donofrio V, Savarese G, Sirica R, Esposito F, Martino M, Papparella A, Franco R, Chieffi P, Marino FZ.

Intractable Rare Dis Res. 2023 Aug;12(3):191-197. doi: 10.5582/irdr.2023.01039.

PMID: 37662626

From Chaos to Opportunity: Decoding Cancer Heterogeneity for Enhanced Treatment Strategies.

Ottaiano A, Ianniello M, Santorsola M, Ruggiero R, Sirica R, Sabbatino F, Perri F, Cascella M, Di Marzo M, Berretta M, Caraglia M, Nasti G, Savarese G.

Biology (Basel). 2023 Aug 29;12(9):1183. doi: 10.3390/biology12091183.

PMID: 37759584

BRAF p.V600E mutation as a molecular boundary between genuine oligo-repeated and poly-metastatic disease in colorectal cancer.

Ottaiano A, Santorsola M, Circelli L, Ianniello M, Casillo M, Petrillo N, Sabbatino F, Cascella M, Perri F, Capuozzo M, Albino V, Granata V, Izzo F, Di Mauro A, Berretta M, Ruggiero R, Gualillo O, Sirica R, Nasti G, Savarese G.

Neoplasia. 2023 Oct;44:100930. doi: 10.1016/j.neo.2023.100930. Epub 2023 Aug 25.

PMID: 37634281

Oligo-Metastatic Disease in Oncology: Exploring the Limits and the Potential of Genetic Assessment.

Ottaiano A, Santorsola M, Circelli L, Ianniello M, Casillo M, Petrillo N, Sabbatino F, Cascella M, Perri F, Capuozzo M, Albino V, Granata V, Izzo F, Di Mauro A, Berretta M, Ruggiero R, Gualillo O, Sirica R, Nasti G, Savarese G.

Neoplasia. 2023 Oct;44:100930. doi: 10.1016/j.neo.2023.100930. Epub 2023 Aug 25.

PMID: 37634281

Emerging treatment approaches for triple-negative breast cancer.

Ottaiano A, Santorsola M, Circelli L, Ianniello M, Casillo M, Petrillo N, Sabbatino F, Cascella M, Perri F, Capuozzo M, Albino V, Granata V, Izzo F, Di Mauro A, Berretta M, Ruggiero R, Gualillo O, Sirica R, Nasti G, Savarese G.

Neoplasia. 2023 Oct;44:100930. doi: 10.1016/j.neo.2023.100930. Epub 2023 Aug 25.

PMID: 37634281

Pulmonary leiomyosarcoma arising in pulmonary hamartoma: an exceptional occurrence in a rare tumor.

Lucà S, Montella M, Monti R, Accardo M, Savarese G, Sirica R, Fiorelli A, Morgillo F, Franco R.

Pathologica. 2023 Dec;115(6):325-332. doi: 10.32074/1591-951X-941.

PMID: 38180140

• 2017 Genome-wide cfDNA screening: AMES laboratory experience with 10,500 pregnant women L. De Falco,G. Savarese, R. Ruggiero, R. D’ Angelo,P. Savarese, L. D’ Amore, C. Vicedomini, T. Suero, C. Ramiro, A. Di Carlo, E. Evangelista, L. Circelli, G. Furino, A. De Rosa, A. Fico
• 2018 Diagnosis for 17β-hydroxysteroid dehydrogenase type 3 deficiency in a Italian family by non invasive prenatal testing (NIPT) and exome sequencing (ES) L. De Falco, G. Savarese, C. Piscopo, R. Ruggiero, P. Savarese, E. Evangelista, L. D’ Amore, L. Circelli, R. D’ Angelo, T. Suero, C. Ramiro, A. Di Carlo, G. Furino, I. Pisano, C. Vicedomini, A. Fico
• 2018 Exome sequencing reveals a novel PLP1 deletion in a Italian proband with connatal Pelizaeus-Merzbacher disease: a case report L. De Falco, G. Savarese, F.F. Operto, A. Ciriello, R. Ruggiero, R. Mazza, F. Piscopo, A. Verrotti, G. Coppola, A. Frolli
• 2018 Non-Invasive Prenatal Testing: Laboratory Clinical Experience: 18880 Clinical Samples L.De Falco, G.Savarese, R.Ruggiero, P.Savarese, E.Evangelista,L.D’Amore, R.D’Angelo, T.Suero, C.Ramiro, A.Di Carlo, L.Circelli, G.Furino, C.Vicedomini, A.Fico
• 2019 Non-Invasive Prenatal Testing: Laboratory Clinical Experience: 20000 Clinical Samples G. Savarese, L. De Falco, P. Savarese, R. Ruggiero, L. D’Amore, T. Suero, L. Circelli, R. D’Angelo, C. Ramiro, I. Pisano, A. Di Carlo, E. Evangelista, G. Furino, M. Bruno, C. Vicedomini, A. Fico

• 2015
  • Congresso Nazionale FederBiologi Il laboratorio clinico oggi e in futuro
  • Corso di formazione per biologi Percorsi diagnostico terapeutici nelle malattie endocrino metaboliche nell’ASL NA1 centro 
• 2017
  • Congresso regionale AOGOI calabria Le età della donna dalla adolescenza alla senscenza
  • SIGO Pannello Trombofilico: dalla consulenza genetica ai protocolli terapeutici
  • Novità terapeutiche in Ostetricia e Ginecologia DNA NIPT: Utilità e limiti del test sul DNA fetale
• 2018
  • Università di Napoli “Parthenope” Trattamento dei tumori metastatici: è migliorata la prognosi?
  • Congresso Highlights in ginecologia e ostetricia NIPT: nuova frontiera della diagnosi prenatale
• 2019
  • Congresso SIEOG regione Toscana C’è piattaforma e piattaforma
  • Corso SIEOG Screening del primo trimestre, Bitest, translucenza nucale o NIPT?