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Page 1
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
Penkert J, Strüwe FJ, Dutzmann CM, Doergeloh BB, Montellier E, Freycon C, Keymling M, Schlemmer HP, Sänger B, Hoffmann B, Gerasimov T, Blattmann C, Fetscher S, Frühwald M, Hettmer S, Kordes U, Ridola V, Kroiss Benninger S, Mastronuzzi A, Schott S, Nees J, Prokop A, Redlich A, Seidel MG, Zimmermann S, Pajtler KW, Pfister SM, Hainaut P, Kratz CP. Penkert J, et al. Among authors: mastronuzzi a. J Hematol Oncol. 2022 Aug 16;15(1):107. doi: 10.1186/s13045-022-01332-1. J Hematol Oncol. 2022. PMID: 35974385 Free PMC article.
Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker.
Korshunov A, Okonechnikov K, Sahm F, Ryzhova M, Stichel D, Schrimpf D, Ghasemi DR, Pajtler KW, Antonelli M, Donofrio V, Mastronuzzi A, Rossi S, Camassei FD, Buccoliero AM, Haberler C, Slavc I, Dahiya S, Casalini B, Sievers P, Meyer J, Kumirova E, Zheludkova O, Golanov A, Jones DTW, Pfister SM, Kool M, von Deimling A. Korshunov A, et al. Among authors: mastronuzzi a. Acta Neuropathol. 2020 Mar;139(3):583-596. doi: 10.1007/s00401-019-02102-z. Epub 2019 Nov 28. Acta Neuropathol. 2020. PMID: 31781912
Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes.
Clarke M, Mackay A, Ismer B, Pickles JC, Tatevossian RG, Newman S, Bale TA, Stoler I, Izquierdo E, Temelso S, Carvalho DM, Molinari V, Burford A, Howell L, Virasami A, Fairchild AR, Avery A, Chalker J, Kristiansen M, Haupfear K, Dalton JD, Orisme W, Wen J, Hubank M, Kurian KM, Rowe C, Maybury M, Crosier S, Knipstein J, Schüller U, Kordes U, Kram DE, Snuderl M, Bridges L, Martin AJ, Doey LJ, Al-Sarraj S, Chandler C, Zebian B, Cairns C, Natrajan R, Boult JKR, Robinson SP, Sill M, Dunkel IJ, Gilheeney SW, Rosenblum MK, Hughes D, Proszek PZ, Macdonald TJ, Preusser M, Haberler C, Slavc I, Packer R, Ng HK, Caspi S, Popović M, Faganel Kotnik B, Wood MD, Baird L, Davare MA, Solomon DA, Olsen TK, Brandal P, Farrell M, Cryan JB, Capra M, Karremann M, Schittenhelm J, Schuhmann MU, Ebinger M, Dinjens WNM, Kerl K, Hettmer S, Pietsch T, Andreiuolo F, Driever PH, Korshunov A, Hiddingh L, Worst BC, Sturm D, Zuckermann M, Witt O, Bloom T, Mitchell C, Miele E, Colafati GS, Diomedi-Camassei F, Bailey S, Moore AS, Hassall TEG, Lowis SP, Tsoli M, Cowley MJ, Ziegler DS, Karajannis MA, Aquilina K, Hargrave DR, Carceller F, Marshall LV, von Deimling A, Kramm CM, Pfister SM, Sahm F, Baker SJ, Mastronuz… See abstract for full author list ➔ Clarke M, et al. Among authors: mastronuzzi a. Cancer Discov. 2020 Jul;10(7):942-963. doi: 10.1158/2159-8290.CD-19-1030. Epub 2020 Apr 1. Cancer Discov. 2020. PMID: 32238360 Free PMC article.
Downregulation of miR-326 and its host gene β-arrestin1 induces pro-survival activity of E2F1 and promotes medulloblastoma growth.
Miele E, Po A, Mastronuzzi A, Carai A, Besharat ZM, Pediconi N, Abballe L, Catanzaro G, Sabato C, De Smaele E, Canettieri G, Di Marcotullio L, Vacca A, Mai A, Levrero M, Pfister SM, Kool M, Giangaspero F, Locatelli F, Ferretti E. Miele E, et al. Among authors: mastronuzzi a. Mol Oncol. 2021 Feb;15(2):523-542. doi: 10.1002/1878-0261.12800. Epub 2020 Dec 31. Mol Oncol. 2021. PMID: 32920979 Free PMC article.
Second series by the Italian Association of Pediatric Hematology and Oncology of children and adolescents with intracranial ependymoma: an integrated molecular and clinical characterization with a long-term follow-up.
Massimino M, Barretta F, Modena P, Witt H, Minasi S, Pfister SM, Pajtler KW, Antonelli M, Gandola L, Luisa Garrè M, Bertin D, Mastronuzzi A, Mascarin M, Quaglietta L, Viscardi E, Sardi I, Ruggiero A, Pollo B, Buccoliero A, Boschetti L, Schiavello E, Chiapparini L, Erbetta A, Morra I, Gessi M, Donofrio V, Patriarca C, Giangaspero F, Johann P, Buttarelli FR. Massimino M, et al. Among authors: mastronuzzi a. Neuro Oncol. 2021 May 5;23(5):848-857. doi: 10.1093/neuonc/noaa257. Neuro Oncol. 2021. PMID: 33135735 Free PMC article.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. Guerrini-Rousseau L, et al. Among authors: mastronuzzi a. J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385. Online ahead of print. J Med Genet. 2022. PMID: 35768194 Free PMC article.
DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.
Caroleo AM, De Ioris MA, Boccuto L, Alessi I, Del Baldo G, Cacchione A, Agolini E, Rinelli M, Serra A, Carai A, Mastronuzzi A. Caroleo AM, et al. Among authors: mastronuzzi a. Front Oncol. 2021 Jan 21;10:614541. doi: 10.3389/fonc.2020.614541. eCollection 2020. Front Oncol. 2021. PMID: 33552988 Free PMC article. Review.
MiR-1248: a new prognostic biomarker able to identify supratentorial hemispheric pediatric low-grade gliomas patients associated with progression.
Catanzaro G, Besharat ZM, Carai A, Jäger N, Splendiani E, Colin C, Po A, Chiacchiarini M, Citarella A, Gianno F, Cacchione A, Miele E, Diomedi Camassei F, Gessi M, Massimi L, Locatelli F, Jones DTW, Figarella-Branger D, Pfister SM, Mastronuzzi A, Giangaspero F, Ferretti E. Catanzaro G, et al. Among authors: mastronuzzi a. Biomark Res. 2022 Jun 17;10(1):44. doi: 10.1186/s40364-022-00389-x. Biomark Res. 2022. PMID: 35715818 Free PMC article.
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.
Fabozzi F, Carrozzo R, Lodi M, Di Giannatale A, Cipri S, Rosignoli C, Giovannoni I, Stracuzzi A, Rizza T, Montante C, Agolini E, Di Nottia M, Galaverna F, Del Baldo G, Del Bufalo F, Mastronuzzi A, De Ioris MA. Fabozzi F, et al. Among authors: mastronuzzi a. Front Oncol. 2024 Jan 8;13:1324013. doi: 10.3389/fonc.2023.1324013. eCollection 2023. Front Oncol. 2024. PMID: 38260858 Free PMC article.
207 results