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4 results on '"Piazza, Vincenzo"'

1. Recurrent ETNK1 mutations in atypical chronic myeloid leukemia

Author

Gambacorti-Passerini, Carlo B., Donadoni, Carla, Parmiani, Andrea, Pirola, Alessandra, Redaelli, Sara, Signore, Giovanni, Piazza, Vincenzo, Malcovati, Luca, Fontana, Diletta, Spinelli, Roberta, Magistroni, Vera, Gaipa, Giuseppe, Peronaci, Marco, Morotti, Alessandro, Panuzzo, Cristina, Saglio, Giuseppe, Usala, Emilio, Kim, Dong-Wook, Rea, Delphine, Zervakis, Konstantinos, Viniou, Nora, Symeonidis, Argiris, Becker, Heiko, Boultwood, Jacqueline, Campiotti, Leonardo, Carrabba, Matteo, Elli, Elena, Bignell, Graham R., Papaemmanuil, Elli, Campbell, Peter J., Cazzola, Mario, and Piazza, Rocco

Published
2015
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2. Evidence of ETNK1 Somatic Variants in Atypical Chronic Myeloid Leukemia

Author

Donadoni, Carla, primary, Piazza, Rocco, additional, Fontana, Diletta, additional, Parmiani, Andrea, additional, Pirola, Alessandra, additional, Redaelli, Sara, additional, Signore, Giovanni, additional, Piazza, Vincenzo, additional, Malcovati, Luca, additional, Spinelli, Roberta, additional, Magistroni, Vera, additional, Gaipa, Giuseppe, additional, Peronaci, Marco, additional, Morotti, Alessandro, additional, Panuzzo, Cristina, additional, Saglio, Giuseppe, additional, Elli, Elena Maria, additional, Usala, Emilio, additional, Kim, Dong-Wook, additional, Rea, Delphine, additional, Zervakis, Konstantinos, additional, Viniou, Nora-Athina, additional, Symeonidis, Argiris, additional, Becker, Heiko, additional, Boultwood, Jacqueline, additional, Campiotti, Leonardo, additional, Carrabba, Matteo G, additional, Bignell, Graham R, additional, Papaemmanuil, Elli, additional, Campbell, Peter J, additional, Cazzola, Mario, additional, and Gambacorti-Passerini, Carlo, additional

Published
2014
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3. Recurrent ETNK1mutations in atypical chronic myeloid leukemia

Author

Gambacorti-Passerini, Carlo B., Donadoni, Carla, Parmiani, Andrea, Pirola, Alessandra, Redaelli, Sara, Signore, Giovanni, Piazza, Vincenzo, Malcovati, Luca, Fontana, Diletta, Spinelli, Roberta, Magistroni, Vera, Gaipa, Giuseppe, Peronaci, Marco, Morotti, Alessandro, Panuzzo, Cristina, Saglio, Giuseppe, Usala, Emilio, Kim, Dong-Wook, Rea, Delphine, Zervakis, Konstantinos, Viniou, Nora, Symeonidis, Argiris, Becker, Heiko, Boultwood, Jacqueline, Campiotti, Leonardo, Carrabba, Matteo, Elli, Elena, Bignell, Graham R., Papaemmanuil, Elli, Campbell, Peter J., Cazzola, Mario, and Piazza, Rocco

Abstract

Despite the recent identification of recurrent SETBP1mutations in atypical chronic myeloid leukemia (aCML), a complete description of the somatic lesions responsible for the onset of this disorder is still lacking. To find additional somatic abnormalities in aCML, we performed whole-exome sequencing on 15 aCML cases. In 2 cases (13.3%), we identified somatic missense mutations in the ETNK1gene. Targeted resequencing on 515 hematological clonal disorders revealed the presence of ETNK1variants in 6 (8.8%) of 68 aCML and 2 (2.6%) of 77 chronic myelomonocytic leukemia samples. These mutations clustered in a small region of the kinase domain, encoding for H243Y and N244S (1/8 H243Y; 7/8 N244S). They were all heterozygous and present in the dominant clone. The intracellular phosphoethanolamine/phosphocholine ratio was, on average, 5.2-fold lower in ETNK1-mutated samples (P< .05). Similar results were obtained using myeloid TF1 cells transduced with ETNK1 wild type, ETNK1-N244S, and ETNK1-H243Y, where the intracellular phosphoethanolamine/phosphocholine ratio was significantly lower in ETNK1-N244S (0.76 ± 0.07) and ETNK1-H243Y (0.37 ± 0.02) than in ETNK1-WT (1.37 ± 0.32; P= .01 and P= .0008, respectively), suggesting that ETNK1mutations may inhibit the catalytic activity of the enzyme. In summary, our study shows for the first time the evidence of recurrent somatic ETNK1mutations in the context of myeloproliferative/myelodysplastic disorders.

Published
2015
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4. Evidence of ETNK1Somatic Variants in Atypical Chronic Myeloid Leukemia

Author

Donadoni, Carla, Piazza, Rocco, Fontana, Diletta, Parmiani, Andrea, Pirola, Alessandra, Redaelli, Sara, Signore, Giovanni, Piazza, Vincenzo, Malcovati, Luca, Spinelli, Roberta, Magistroni, Vera, Gaipa, Giuseppe, Peronaci, Marco, Morotti, Alessandro, Panuzzo, Cristina, Saglio, Giuseppe, Elli, Elena Maria, Usala, Emilio, Kim, Dong-Wook, Rea, Delphine, Zervakis, Konstantinos, Viniou, Nora-Athina, Symeonidis, Argiris, Becker, Heiko, Boultwood, Jacqueline, Campiotti, Leonardo, Carrabba, Matteo G, Bignell, Graham R, Papaemmanuil, Elli, Campbell, Peter J, Cazzola, Mario, and Gambacorti-Passerini, Carlo

Abstract

Atypical Chronic Myeloid Leukemia (aCML) is a clonal disorder belonging to the Myeloproliferative/Myelodysplastic (MPN/MDS) group. The molecular lesions responsible for the onset of aCML remained unknown until 2013 when recurrent somatic mutations of SETBP1were identified. However, the frequency of SETBP1mutations in aCML does not exceed 25-30%, which suggests that other lesions may play a role in the remaining cases.

Published
2014
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