Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)

Autor: Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Elena Sala, Francesca Crosti, Valentina Parisi, Anna Maria Nardone, Gianluca Di Giacomo, Antonella Pettinari, Giada Tortora, Annamaria Montaldi, Annapaola Calò, Donatella Saccilotto, Sara Zanchetti, Paola Celli, Silvana Guerneri, Rosamaria Silipigni, Laura Cardarelli, Elisabetta Lippi, Simona Cavani, Michela Malacarne, Rita Genesio, Nicola Beltrami, Maria Carla Pittalis, Laura Desiderio, Mattia Gentile, Romina Ficarella, Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Lorena Miele, Cecilia Corti, Sara Ghezzo, Veronica Bertini, Francesca Cambi, Angelo Valetto, Barbara Facchinetti, Laura Bernardini, Anna Capalbo, Federica Balducci, Elisabetta Pelo, Barbara Minuti, Chiara Pescucci, Costanza Giuliani, Alessandra Renieri, Ilaria Longo, Rossella Tita, Giuseppe Castello, Rosario Casalone, Rossana Righi, Barbara Raso, Alessandro Civolani, Maria Cristina Muzi, Manuela di Natale, Luigia Varriale, Daniela Gasperini, Maria Cristina Nuzzi, Angelo Cellamare, Paola Casieri, Rosa Busuito, Caterina Ceccarini, Carla Cesarano, Orsola Privitera, Daniela Melani, Cristina Menozzi, Cristina Falcinelli, Olga Calabrese, Paola Battaglia, Antonella Tanzariello, Tamara Stampalija, Carmela Ardisia, Paolo Gasparini, Peter Benn, Antonio Novelli

Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by Italian laboratories betwee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deddef97ee50604835da23b5f9aa9edb
https://hdl.handle.net/11368/3035240

MYEOV gene overexpression in primary plasma cell leukemia with t(11;14)(q13;q32)

Autor: Cosimo Cumbo, Paola Orsini, Crescenzio Francesco Minervini, Elisa Parciante, Giorgina Specchia, Angelo Cellamare, Claudia Brunetti, Antonella Zagaria, Anna Mestice, Luciana Impera, Luisa Anelli, Angela Minervini, Giuseppina Tota, Nicoletta Coccaro, Francesco Albano, Paola Casieri

Primary plasma cell leukemia (pPCL) is an uncommon form of plasma cell dyscrasia, and the most aggressive of the human monoclonal gammopathies. The t(11;14)(q13;q32) rearrangement is the most common alteration in pPCL, promoting cyclin D1 (CCND1) gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b300abe7216c4c3a2f2b5300a31af1
https://europepmc.org/articles/PMC4950221/

BCL6 corepressor gene dysregulation due to chromosomal translocation in acute myeloid leukemia: a new mechanism based on long non-coding RNA dislocation?

Autor: Luisa Anelli, Crescenzio Francesco Minervini, Giorgina Specchia, Antonella Zagaria, Francesco Albano, Claudia Brunetti, Paola Orsini, Giuseppina Tota, Paola Casieri, Nicoletta Coccaro, Luciana Impera, Angela Minervini, Angelo Cellamare

Publikováno v: Leukemia & Lymphoma. 55:2199-2201

Acute myeloid leukemia (AML) is a hematologic disease with heterogeneous clinical and biological features. Although 40 – 50% of patients with AML carry an apparently normal karyotype (NK-AML), several molecular lesions have been found to be associa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6f0663c28e66b8316ce774658bd99acf
https://doi.org/10.3109/10428194.2013.874009

Evolutionary Formation of New Centromeres in Macaque

Autor: Mariano Rocchi, Maria Francesca Cardone, Angelo Cellamare, Francesca Antonacci, Mario Ventura, Roscoe Stanyon, Evan E. Eichler, Pietro D'Addabbo, Nicoletta Archidiacono, L. James Sprague

Publikováno v: Science. 316:243-246

A systematic fluorescence in situ hybridization comparison of macaque and human synteny organization disclosed five additional macaque evolutionary new centromeres (ENCs) for a total of nine ENCs. To understand the dynamics of ENC formation and progr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baccaa92607dc75c2137361738f14521
https://doi.org/10.1126/science.1140615

5′RUNX1-3′USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications

Autor: Crescenzio Francesco Minervini, Angela Minervini, Giuseppina Tota, Claudia Brunetti, Nicoletta Coccaro, Giorgina Specchia, Angelo Cellamare, Francesco Albano, Cosimo Cumbo, Paola Casieri, Antonella Zagaria, Luisa Anelli

Publikováno v: Molecular Cytogenetics

Background: The runt-related transcription factor 1 (RUNX1) gene is a transcription factor that acts as a master regulator of hematopoiesis and represents one of the most frequent targets of chromosomal rearrangements in human leukemias. The t(7;21)(

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e6f36d99eb29c7ef305f30d91aa229
http://europepmc.org/articles/PMC4189616