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311 results on '"Crescenzi B"'

1. Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP)

Author

Guarina, A., Farruggia, P., Mariani, E., Saracco, P., Barone, A., Onofrillo, D., Cesaro, S., Angarano, R., Barberi, W., Bonanomi, S., Corti, P., Crescenzi, B., Dell'Orso, G., De Matteo, A., Giagnuolo, G., Iori, A.P., Ladogana, S., Lucarelli, A., Lupia, M., Martire, B., Mastrodicasa, E., Massaccesi, E., Arcuri, L., Giarratana, M.C., Menna, G., Miano, M., Notarangelo, L.D., Palazzi, G., Palmisani, E., Pestarino, S., Pierri, F., Pillon, M., Ramenghi, U., Russo, G., Saettini, F., Timeus, F., Verzegnassi, F., Zecca, M., Fioredda, F., and Dufour, C.

Published
2024
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3. P739: THE EPI-GENOMIC LANDSCAPE OF MONOSOMY 7 IN ADULT MDS/AML

Author

Lema Fernandez, A. G., primary, Nardelli, C., additional, Di Battista, V., additional, Quintini, M., additional, Pellanera, F., additional, Matteucci, C., additional, Pierini, V., additional, Crescenzi, B., additional, Moretti, M., additional, Bardelli, V., additional, Gorello, P., additional, and Mecucci, C., additional

Published
2022
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4. ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine

Author

Fontana, D, Mauri, M, Renso, R, Docci, M, Crespiatico, I, Rost, L, Jang, M, Niro, A, D'Aliberti, D, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Fanelli, F, Cassina, V, Corti, R, Salerno, D, Nardo, L, Chinello, C, Mantegazza, F, Mecucci, C, Magni, F, Cavaletti, G, Bruheim, P, Rea, D, Larsen, S, Gambacorti-Passerini, C, Piazza, R, Fontana D., Mauri M., Renso R., Docci M., Crespiatico I., Rost L. M., Jang M., Niro A., D'Aliberti D., Massimino L., Bertagna M., Zambrotta G., Bossi M., Citterio S., Crescenzi B., Fanelli F., Cassina V., Corti R., Salerno D., Nardo L., Chinello C., Mantegazza F., Mecucci C., Magni F., Cavaletti G., Bruheim P., Rea D., Larsen S., Gambacorti-Passerini C., Piazza R., Fontana, D, Mauri, M, Renso, R, Docci, M, Crespiatico, I, Rost, L, Jang, M, Niro, A, D'Aliberti, D, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Fanelli, F, Cassina, V, Corti, R, Salerno, D, Nardo, L, Chinello, C, Mantegazza, F, Mecucci, C, Magni, F, Cavaletti, G, Bruheim, P, Rea, D, Larsen, S, Gambacorti-Passerini, C, Piazza, R, Fontana D., Mauri M., Renso R., Docci M., Crespiatico I., Rost L. M., Jang M., Niro A., D'Aliberti D., Massimino L., Bertagna M., Zambrotta G., Bossi M., Citterio S., Crescenzi B., Fanelli F., Cassina V., Corti R., Salerno D., Nardo L., Chinello C., Mantegazza F., Mecucci C., Magni F., Cavaletti G., Bruheim P., Rea D., Larsen S., Gambacorti-Passerini C., and Piazza R.

Abstract

Recurrent somatic mutations in ETNK1 (Ethanolamine-Kinase-1) were identified in several myeloid malignancies and are responsible for a reduced enzymatic activity. Here, we demonstrate in primary leukemic cells and in cell lines that mutated ETNK1 causes a significant increase in mitochondrial activity, ROS production, and Histone H2AX phosphorylation, ultimately driving the increased accumulation of new mutations. We also show that phosphoethanolamine, the metabolic product of ETNK1, negatively controls mitochondrial activity through a direct competition with succinate at mitochondrial complex II. Hence, reduced intracellular phosphoethanolamine causes mitochondria hyperactivation, ROS production, and DNA damage. Treatment with phosphoethanolamine is able to counteract complex II hyperactivation and to restore a normal phenotype.

Published
2020

5. ETNK1 mutations in atypical chronic myeloid leukemia induce a mutator phenotype that can be reverted with phosphoethanolamine

Author

Fontana, D, Mauri, M, Renso, R, Docci, M, Crespiatico, I, Rost, L, Jang, M, Niro, A, D'Aliberti, D, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Fanelli, F, Cassina, V, Corti, R, Salerno, D, Nardo, L, Chinello, C, Mantegazza, F, Mecucci, C, Magni, F, Cavaletti, G, Bruheim, P, Rea, D, Larsen, S, Piazza, R, Gambacorti-Passerini, C, Fontana D., Mauri M., Renso R., Docci M., Crespiatico I., Rost L. M., Jang M., Niro A., D'Aliberti D., Massimino L., Bertagna M., Zambrotta G., Bossi M., Citterio S., Crescenzi B., Fanelli F., Cassina V., Corti R., Salerno D., Nardo L., Chinello C., Mantegazza F., Mecucci C., Magni F., Cavaletti G., Bruheim P., Rea D., Larsen S., Piazza R., Gambacorti-Passerini C., Fontana, D, Mauri, M, Renso, R, Docci, M, Crespiatico, I, Rost, L, Jang, M, Niro, A, D'Aliberti, D, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Fanelli, F, Cassina, V, Corti, R, Salerno, D, Nardo, L, Chinello, C, Mantegazza, F, Mecucci, C, Magni, F, Cavaletti, G, Bruheim, P, Rea, D, Larsen, S, Piazza, R, Gambacorti-Passerini, C, Fontana D., Mauri M., Renso R., Docci M., Crespiatico I., Rost L. M., Jang M., Niro A., D'Aliberti D., Massimino L., Bertagna M., Zambrotta G., Bossi M., Citterio S., Crescenzi B., Fanelli F., Cassina V., Corti R., Salerno D., Nardo L., Chinello C., Mantegazza F., Mecucci C., Magni F., Cavaletti G., Bruheim P., Rea D., Larsen S., Piazza R., and Gambacorti-Passerini C.

Published
2020

6. Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia

Author

Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., Savoia, A., Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., and Savoia, A.

Subjects
mitochondrial defects, genomic integrity, mitochondrial defect, oxidative stre, Fanconi anemia, oxidative stress, Warsaw syndrome, OXOPHOS
Abstract

Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant. By investigating the pathogenic mechanism, we demonstrate the inability of the DDX11 p.Leu836Pro mutant to unwind forked DNA substrates, while retaining DNA binding activity. We observed the accumulation of patient-derived cells at the G2/M phase and increased chromosomal fragmentation after mitomycin C treatment. The phenotype partially overlaps with features of the Fanconi anemia cells, which shows not only genomic instability but also defective mitochondria. This prompted us to examine mitochondrial functionality in WABS cells and revealed an altered aerobic metabolism. This opens the door to the further elucidation of the molecular and cellular basis of an impaired mitochondrial phenotype and sheds light on this fundamental process in cell physiology and the pathogenesis of these diseases.

Published
2021

7. A distinct epigenetic program underlies the 1;7 translocation in myelodysplastic syndromes

Author

Fernandez, A, Crescenzi, B, Pierini, V, Di Battista, V, Barba, G, Pellanera, F, Di Giacomo, D, Roti, G, Piazza, R, Adelman, E, Figueroa, M, Mecucci, C, Fernandez A. G. L., Crescenzi B., Pierini V., Di Battista V., Barba G., Pellanera F., Di Giacomo D., Roti G., Piazza R., Adelman E. R., Figueroa M. E., Mecucci C., Fernandez, A, Crescenzi, B, Pierini, V, Di Battista, V, Barba, G, Pellanera, F, Di Giacomo, D, Roti, G, Piazza, R, Adelman, E, Figueroa, M, Mecucci, C, Fernandez A. G. L., Crescenzi B., Pierini V., Di Battista V., Barba G., Pellanera F., Di Giacomo D., Roti G., Piazza R., Adelman E. R., Figueroa M. E., and Mecucci C.

Abstract

The unbalanced translocation dic(1;7)(q10;p10) in myelodysplastic syndromes (MDS) is originated by centromeric juxtaposition resulting into 1q trisomy and 7q monosomy. More than half of cases arise after chemo/radio-therapy. To date, given the absence of genes within the centromeric regions, no specific molecular events have been identified in this cytogenetic subgroup. We performed the first comprehensive genetic and epigenetic analysis of MDS with dic(1;7)(q10;p10) compared to normal controls and therapy-related myeloid neoplasms (t-MNs). RNA-seq showed a unique downregulated signature in dic(1;7) cases, affecting more than 80% of differentially expressed genes. As revealed by pathway and gene ontology analyses, downregulation of ATP-binding cassette (ABC) transporters and lipid-related genes and upregulation of p53 signaling were the most relevant biological features of dic(1;7). Epigenetic supervised analysis revealed hypermethylation at intronic enhancers in the dicentric subgroup, in which low expression levels of enhancer putative target genes accounted for around 35% of the downregulated signature. Enrichment of Krüppel-like transcription factor binding sites emerged at enhancers. Furthermore, a specific hypermethylated pattern on 1q was found to underlie the hypo-expression of more than 50% of 1q-deregulated genes, despite trisomy. In summary, dic(1;7) in MDS establishes a specific transcriptional program driven by a unique epigenomic signature.

Published
2019

8. Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells expressing the Leu836Pro DDX11 mutation: a comparison with Fanconi anemia

Author

Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., and Savoia, A.

Subjects
genomic integrity, mitochondrial defects, Fanconi anemia, oxidative stress, Warsaw syndrome, OXOPHOS
Published
2021

15. ETNK1 mutations promote ROS production and DNA damage through increased mitochondrial activity

Author

Fontana, D, Mauri, M, Niro, A, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, CITTERIO, STEFANIA, Crescenzi, B, Signore, G, Piazza, V, Mecucci, C, Cavaletti, G, Rea, D, Gambacorti-Passerini, C, Piazza, R, Fontana, D, Mauri, M, Niro, A, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Mecucci, C, Cavaletti, G, Rea, D, Gambacorti-Passerini, C, and Piazza, R

Subjects
ETNK1, ROS
Abstract

Atypical chronic myeloid leukemia (aCML) is a clonal disorder belonging to the myelodysplastic/myeloproliferative syndromes. About 13% of aCML cases carry somatic mutations in ETNK1 gene, encoding for H243Y, N244S, and G245V substitutions. We previously showed that ETNK1 mutations cause a decreased catalytic activity of the enzyme. Despite this evidence however, their oncogenic role remained largely unexplained. Since ETNK1 activity is essential for the synthesis of phosphatidylethanolamine (PE) and given that PE is one of the most abundant phospholipids in the inner membrane of mitochondria, we focused our attention on mitochondrial activity. In order to characterize the oncogenic effect of ETNK1 variants we generated CRISPR/Cas9 clones carrying heterozygous N244S mutation and homozygous ETNK1 deletion (KO cells) on the 293 Flp-In™ cell-line. Both N244S and KO cells showed a significant increase in mitochondrial activity (1.78 and 2.13 fold increase, respectively; p= 0.0096 and p=0.0050) compared to WT, as assessed by MitoTracker™ Red. In line with this finding, electron microscopy revealed a significant modification in mitochondria morphology for N244S and KO cells, changing from an elongated, tubular shape to a round, swollen one. ATP (1.67 and 1.68 fold; p

Published
2018

16. ETNK1 mutations increase mitochondrial activity and promote DNA damage through ROS production

Author

Fontana, D, Mauri, M, Niro, A, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Fanelli, F, Mecucci, C, Cavaletti, G, Rea, D, Gambacorti Passerini, C, Piazza, R, Fontana, D, Mauri, M, Niro, A, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Fanelli, F, Mecucci, C, Cavaletti, G, Rea, D, Gambacorti Passerini, C, and Piazza, R

Subjects
atypical chronic myeloid leukemia, mitochondrial activity
Published
2018

19. Role of somatic ETNK1 mutation in the mitochondrial activity

Author

Fontana, D, Bertagna, M, Mauri, M, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Mecucci, C, Cavaletti, G, Gambacorti Passerini, C, Piazza, RG, Fontana, D, Bertagna, M, Mauri, M, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Mecucci, C, Cavaletti, G, Gambacorti Passerini, C, and Piazza, R

Subjects
atypical chronic myeloid leukemia, mitochondrial activity
Published
2017

21. Proximal aortic neck angle does not affect early and late EVAR outcomes: an AnacondaTM Italian Registry analysis

Author

Freyrie, A, Gallitto, E, Gargiulo, M, Mascoli, C, Faggioli, G, Pini, R, Pratesi, C, Stella, A, Accarino, G, Adovasio, Roberto, Ambrosino, G, Argenteri, A, Baratta, V, Bellandi, G, Bertoglio, C, Bonanco, F, Capelli, P, Cappiello, P, Caruso, S, Crescenzi, B, Farina, A, La Barbera, G, Leporelli, P, Lino, M, Michaelagnoli, S, Milite, D, Monaca, V, Nano, G, Natale, A, Nessi, F, Novali, C, Odero, A, Paroni, G, Previato Schiesari, A, Ronsisvalle, S, Salvini, M, Setacci, C, Spinelli, F, Talarico, F, Viani, M., Freyrie, A, Gallitto, E, Gargiulo, M, Mascoli, C, Faggioli, G, Pini, R, Pratesi, C, Stella, A, Accarino, G, Adovasio, Roberto, Ambrosino, G, Argenteri, A, Baratta, V, Bellandi, G, Bertoglio, C, Bonanco, F, Capelli, P, Cappiello, P, Caruso, S, Crescenzi, B, Farina, A, La Barbera, G, Leporelli, P, Lino, M, Michaelagnoli, S, Milite, D, Monaca, V, Nano, G, Natale, A, Nessi, F, Novali, C, Odero, A, Paroni, G, Previato Schiesari, A, Ronsisvalle, S, Salvini, M, Setacci, C, Spinelli, F, Talarico, F, and Viani, M.

Subjects
Male, Reoperation, Time Factors, Endoleak, Kaplan-Meier Estimate, Prosthesis Design, Disease-Free Survival, Blood Vessel Prosthesis Implantation, Foreign-Body Migration, Risk Factors, Humans, Registries, Aged, Retrospective Studies, Aged, 80 and over, abdominal-endovascular procedures, Endovascular Procedures, Thrombosis, Middle Aged, Blood Vessel Prosthesis, Treatment Outcome, Italy, minimally invasive, aortic aneurysm,abdominal-endovascular procedures,minimally invasive, Female, Stents, aortic aneurysm, Aortic Aneurysm, Abdominal
Abstract

AIM: The aim of this paper was to evaluate early and 3-year results of the endovascular repair (EVAR) for abdominal aortic aneurysm (AAA) using the AnacondaTM endograft in patients with severe proximal aortic neck angle. METHODS: A retrospective analysis of the AnacondaTM Italian Registry was carried out. Two groups of patients were identified according to the presence of a severe (Group A, GA: ≥ 60°) or an absent (Group B, GB

Published
2014

22. Modello di percorso diagnostico e terapeutico per l'arteriopatia obliterante periferica

Author

Andreozzi, G. M., Antignani, P. L., Arosio, E., Arpaia, G., Crescenzi, B., Di Salvo, M., Gossetti, Bruno, Marcucci, G., Milio, G., Andreozzi, GM, Antignani, PL, Arosio, E, Arpaia, G, Crescenzi, B, Di Salvo, MM, Gossetti, B, Marcucci, G, and Milio, G

Subjects
Arteriopatia obliterante periferica - Percorsi diagnostico terapeutici, percorsi diagnostico-terapeutici, Arteriopatia obliterante periferica, ABI, Settore MED/11 - Malattie Dell'Apparato Cardiovascolare
Published
2012

23. Modello di percorso diagnostico e terapeutico per la trombosi venosa superficiale

Author

MILIO, Glauco, Andreozzi, GM, Antignani, PL, Arosio, E, Arpaia, G, Crescenzi, B, Di Salvo, MM, Gossetti, B, Marcucci, G., Milio, G, Andreozzi, GM, Antignani, PL, Arosio, E, Arpaia, G, Crescenzi, B, Di Salvo, MM, Gossetti, B, and Marcucci, G

Subjects
Trombosi venosa superficiale - Percorsi diagnostico terapeutici, Settore MED/11 - Malattie Dell'Apparato Cardiovascolare
Published
2012

26. TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia [4]

Author

Rosati, R, La Starza, R., Gorello, P., Matteucci, C., Pierini, V., Romoli, S., Crescenzi, B., Martelli, M. F., Mecucci, C., LUCIANO, LUIGIA, ROTOLI, BRUNO, PANE, FABRIZIO, Rosati, R, La Starza, R., Luciano, Luigia, Gorello, P., Matteucci, C., Pierini, V., Romoli, S., Crescenzi, B., Rotoli, Bruno, Martelli, M. F., Pane, Fabrizio, and Mecucci, C.

Subjects
Cancer Research, DNA Primer, Chromosomes, Human, Pair 10, Molecular Sequence Data, Tropomyosin, Hematology, Receptor, Platelet-Derived Growth Factor beta, Chromosomes, Human, Pair 1, Chronic Disease, Hypereosinophilic Syndrome, Chromosomes, Human, Pair 5, RNA, Messenger, Gene Fusion, In Situ Hybridization, Fluorescence, Thyroid Neoplasm, Human
Published
2006

27. Deletions of the long arm of chromosome 5 define subgroups of T-cell acute lymphoblastic leukemia

Author

La Starza, R., primary, Barba, G., additional, Demeyer, S., additional, Pierini, V., additional, Di Giacomo, D., additional, Gianfelici, V., additional, Schwab, C., additional, Matteucci, C., additional, Vicente, C., additional, Cools, J., additional, Messina, M., additional, Crescenzi, B., additional, Chiaretti, S., additional, Foa, R., additional, Basso, G., additional, Harrison, C. J., additional, and Mecucci, C., additional

Published
2016
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29. Management of patients with infected aortic prosthesis. Analysis of 164 patients from the Italian Registry of Graft Infection (IRGI) [Modalità di trattamento nei pazienti con infezione di protesi aortica. Analisi di 164 pazienti dal R

Author

Speziale F, Rizzo L, Schioppa A, Brizzi V, Fiorani P, Cao P, Zannetti S, Parlani G, Agrifoglio G, Alagni G, Alberti D, Alò F, Bacciu P, Biglioli P, Bortolani E, Brotzu G, Caldarelli G, Canova G, Cavaliere P, Costarella S, Crescenzi B, D'Addato M, De Blasis G, De Donato G, Deriu G, Di Cintio V, Florena M, Franchi A, Mangialardi N, Moretti V, Muzj A, Odero A, Palombo D, Pedeferri G, Pistolere GR, Placida C, Ponzio E, Pratesi C, Puttini M, Rabitti C, Setacci C, Spartera C, Spigonardo F, Stancanelli V, Valitutti P, Vecchiati E, Vecchioni R., CHIESA , ROBERTO, Speziale, F, Rizzo, L, Schioppa, A, Brizzi, V, Fiorani, P, Cao, P, Zannetti, S, Parlani, G, Agrifoglio, G, Alagni, G, Alberti, D, Alò, F, Bacciu, P, Biglioli, P, Bortolani, E, Brotzu, G, Caldarelli, G, Canova, G, Cavaliere, P, Chiesa, Roberto, Costarella, S, Crescenzi, B, D'Addato, M, De Blasis, G, De Donato, G, Deriu, G, Di Cintio, V, Florena, M, Franchi, A, Mangialardi, N, Moretti, V, Muzj, A, Odero, A, Palombo, D, Pedeferri, G, Pistolere, Gr, Placida, C, Ponzio, E, Pratesi, C, Puttini, M, Rabitti, C, Setacci, C, Spartera, C, Spigonardo, F, Stancanelli, V, Valitutti, P, Vecchiati, E, and Vecchioni, R.

Published
2002

30. Modello di percorso diagnostico e terapeuticoper la trombosi venosa superficiale

Author

Milio, G., Andreo zzi, G. M., Antignani, P. L., Arosio, Enrico, Arpaia, G., Crescenzi, B., Di Salvo, M., Gossetti, B., Marcucci, G., nome del Gruppo di Lavoro SIAPAV con Metis FIMG, A., Sicve, Sidv, Simg, Siset, and DE MARCHI, Sergio

Subjects
superficial veins thrombosis, treatment, diagnosis
Published
2012

33. Chronic eosinophilic leukaemia with ETV6-NTRK3 fusion transcript in an elderly patient affected with pancreatic carcinoma

Author

Forghieri, Fabio, Morselli, M, Potenza, Leonardo, Maccaferri, Monica, Pedrazzi, Letizia, Paolini, Ambra, Bonacorsi, G, Artusi, Tullio, Giacobbi, F, Corradini, G, Barozzi, Patrizia, Zucchini, Patrizia, Marasca, Roberto, Narni, Franco, Crescenzi, B, Mecucci, C, Falini, B, Torelli, Giuseppe, and Luppi, Mario

Subjects
Chronic eosinophilic leukaemia, ETV6-NTRK3 fusion transcript
Published
2011

43. Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

Author

Maserati, Emanuela, Minelli, A, Pressato, Barbara, Valli, Roberto, Crescenzi, B, Stefanelli, M, Menna, G, Sainati, L, Poli, F, Panarello, C, Zecca, M, LO CURTO, Francesco, Mecucci, C, Danesino, C, and Pasquali, Francesco

Subjects
Adult, Chromosome Aberrations, Male, Shwachman syndrome, Adolescent, DNA Mutational Analysis, Chromosomes, Human, Pair 20, Proteins, Chromosome Breakage, Syndrome, Translocation, Genetic, Myelodysplastic Syndromes, chromosome 20, chromosome 7, Case-Control Studies, Humans, Abnormalities, Multiple, Female, Child, Chromosomes, Human, Pair 7, In Situ Hybridization, Fluorescence
Abstract

An investigation of 14 patients with Shwachman syndrome (SS), using standard and molecular cytogenetic methods and molecular genetic techniques, showed that (1) the i(7)(q10) is not, or not always, an isochromosome but may arise from a more complex mechanism, retaining part of the short arm; (2) the i(7)(q10) has no preferential parental origin; (3) clonal chromosome changes, such as chromosome 7 anomalies and del(20)(q11), may be present in the bone marrow (BM) for a long time without progressing to myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML); (4) the del(20)(q11) involves the minimal region of deletion typical of MDS/AML; (5) the rate of chromosome breaks is not significantly higher than in controls, from which it is concluded that SS should not be considered a breakage syndrome; (6) a specific kind of karyotype instability is present in SS, with chromosome changes possibly found in single cells or small clones, often affecting chromosomes 7 and 20, in the BM. Hence, we have confirmed our previous hypothesis that the SS mutation itself implies a mutator effect that is responsible for MDS/AML through these specific chromosome anomalies. This conclusion supports the practice of including cytogenetic monitoring in the follow-up of SS patients.

Published
2006

47. Linking genomic lesions with minimal residual disease improves prognostic stratification in children with T-cell acute lymphoblastic leukaemia

Author

La Starza, R, Lettieri, A, Pierini, V, Nofrini, V, Gorello, P, Songia, S, Crescenzi, B, Te Kronnie, G, Giordan, M, Leszl, A, Valsecchi, M, Aversa, F, Basso, G, Biondi, A, Conter, V, Cazzaniga, G, Mecucci, C, LETTIERI, ANTONELLA, VALSECCHI, MARIA GRAZIA, BIONDI, ANDREA, CAZZANIGA, GIOVANNI ITALO, Mecucci, C., La Starza, R, Lettieri, A, Pierini, V, Nofrini, V, Gorello, P, Songia, S, Crescenzi, B, Te Kronnie, G, Giordan, M, Leszl, A, Valsecchi, M, Aversa, F, Basso, G, Biondi, A, Conter, V, Cazzaniga, G, Mecucci, C, LETTIERI, ANTONELLA, VALSECCHI, MARIA GRAZIA, BIONDI, ANDREA, CAZZANIGA, GIOVANNI ITALO, and Mecucci, C.

Abstract

Multiple lesions in genes that are involved in cell cycle control, proliferation, survival and differentiation underlie T-cell acute lymphoblastic leukaemia (T-ALL). We translated these biological insights into clinical practice to improve diagnostic work-ups and patient management. Combined interphase fluorescence in situ hybridization (CI-FISH), single nucleotide polymorphism (SNP), and gene expression profiles (GEP) were applied in 51 children with T-ALL who were stratified according to minimal residual disease (MRD) risk categories (AIEOP-BFM ALL2000). CI-FISH identified type A abnormalities in 90% of patients. Distribution of each was in line with the estimated incidence in childhood T-ALL: 37.5% TAL/LMO, 22.5% HOXA, 20% TLX3, 7.5% TLX1, and 2.5% NKX2-1. GEP predictions concurred. SNP detected type B abnormalities in all cases, thus linking type A and B lesions. This approach provided an accurate, comprehensive genomic diagnosis and a complementary GEP-based classification of T-ALL in children. Dissecting primary and secondary lesions within MRD categories could improve prognostic criteria for the majority of patients and be a step towards personalized diagnosis.

Published
2013

49. Colonne litostratigrafiche (PA; PAA; PB; PC; PD; PE; PE; PF; PG; PH; PJ; PL; PM; PN; PO; PP; PQ; PS; PT; PU; PW; PX; PY; PZ) relative ai settori 5, 12, 13, illustrate nella Tav. 4 in DAMIANI A.V., CHIOCCHINI R., MARIOTTI G., PAROTTO M., PASSERI L., PRATURLON A. - Elementi litostratigrafici per una sintesi delle facies carbonatiche meso-cenozoiche dell'Appennino centrale

Author

CORRADO, Sveva, CRESCENZI B, GIOIA C., TOZZI M, CAVINATO GP, PAROTTO M, Corrado, Sveva, Crescenzi, B, and Gioia, C.

Published
1992

50. Modalità di trattamento nei pazienti con infezione di protesi aortica. Analisi di 164 pazienti dal Registro Italiano delle Infezioni Protesiche (IRGI)

Author

Speziale, F., Rizzo, L., Schioppa, A., Brizzi, V., Fiorani, P., Cao, P., Zannetti, S., Parlani, G., Agrifoglio, G., Alagni, G., Alberti, D., Alò, F., Bacciu, P., Biglioli, P., Bortolani, E., Brotzu, G., Caldarelli, G., Canova, G., Cavaliere, P., Chiesa, R., Costarella, S., Crescenzi, B., D'Addato, M., De Blasis, G., De Donato, G., Deriu, G., Di Cintio, V., Florena, M., Franchi, A., Mangialardi, N., Moretti, V., Muzj, A., Odero, A., Palombo, Domenico, Pedeferri, G., Pistolere, G. R., Placida, C., Ponzio, E., Pratesi, C., Puttini, M., Rabitti, C., Setacci, C., Spartera, C., Spigonardo, F., Stancanelli, V., Valitutti, P., Vecchiati, E., and Vecchioni, R.

Subjects
Postoperative complications, Prosthesis related infections, diagnosis, Aortic diseases, diagnosis, Intestinal fistula, diagnosis, Prosthesis related infections, diagnosis, Cardiology and Cardiovascular Medicine, Aortic diseases, Intestinal fistula
Published
2002

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