5 results on '"Parmiani, Andrea"'
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2. Evidence of ETNK1 Somatic Variants in Atypical Chronic Myeloid Leukemia
- Author
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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
- Full Text
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3. Recurrent ETNK1mutations in atypical chronic myeloid leukemia
- Author
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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
- Full Text
- View/download PDF
4. Evidence of ETNK1Somatic Variants in Atypical Chronic Myeloid Leukemia
- Author
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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
- Full Text
- View/download PDF
5. Recurrent ETNK1 mutations in atypical chronic myeloid leukemia
- Author
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Roberta Spinelli, Vera Magistroni, Giuseppe Gaipa, Elena Maria Elli, Emilio Usala, Cristina Panuzzo, Matteo Carrabba, Carla Donadoni, Vincenzo Piazza, Peter J. Campbell, Luca Malcovati, Diletta Fontana, Dong-Wook Kim, Nora Viniou, Elli Papaemmanuil, Leonardo Campiotti, Giuseppe Saglio, Mario Cazzola, Graham R. Bignell, Andrea Parmiani, Heiko Becker, Marco Peronaci, Argiris Symeonidis, Rocco Piazza, Delphine Rea, Alessandra Pirola, Konstantinos Zervakis, Carlo Gambacorti-Passerini, Jacqueline Boultwood, Giovanni Signore, Sara Redaelli, Alessandro Morotti, GAMBACORTI PASSERINI, C, Donadoni, C, Parmiani, A, Pirola, A, Redaelli, S, Signore, G, Piazza, V, Malcovati, L, Fontana, D, Spinelli, R, Magistroni, V, Gaipa, G, Peronaci, M, Morotti, A, Panuzzo, C, Saglio, G, Usala, E, Kim, D, Rea, D, Zervakis, K, Viniou, N, Symeonidis, A, Becker, H, Boultwood, J, Campiotti, L, Carrabba, M, Elli, E, Bignell, G, Papaemmanuil, E, Campbell, P, Cazzola, M, Piazza, R, 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, Konstantino, Viniou, Nora, Symeonidis, Argiri, Becker, Heiko, Boultwood, Jacqueline, Campiotti, Leonardo, Carrabba, Matteo, Elli, Elena, Bignell, Graham R., Papaemmanuil, Elli, Campbell, Peter J., Cazzola, Mario, and Piazza, Rocco
- Subjects
Myeloid ,Molecular Sequence Data ,Immunology ,Sequence Homology ,Chronic myelomonocytic leukemia ,Biology ,medicine.disease_cause ,Biochemistry ,chemistry.chemical_compound ,Germline mutation ,Amino Acid Sequence ,Case-Control Studies ,Follow-Up Studies ,Humans ,Leukemia, Myelogenous, Chronic, BCR-ABL Positive ,Leukemia, Myelomonocytic, Chronic ,Mutation ,Phosphotransferases (Alcohol Group Acceptor) ,Prognosis ,Sequence Homology, Amino Acid ,Hematology ,Cell Biology ,MED/15 - MALATTIE DEL SANGUE ,medicine ,Chronic ,Phosphocholine ,Whole-exome sequencing, ETNK1, aCML, Myelodysplastic/myeloproliferative neoplasm, SETBP1 ,Leukemia ,Myelodysplastic/Myeloproliferative Neoplasm ,Myelomonocytic ,medicine.disease ,Molecular biology ,Amino Acid ,medicine.anatomical_structure ,chemistry ,Atypical chronic myeloid leukemia ,BCR-ABL Positive ,Myelogenous - Abstract
Despite the recent identification of recurrent SETBP1 mutations 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 ETNK1 gene. Targeted resequencing on 515 hematological clonal disorders revealed the presence of ETNK1 variants 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 ETNK1 mutations may inhibit the catalytic activity of the enzyme. In summary, our study shows for the first time the evidence of recurrent somatic ETNK1 mutations in the context of myeloproliferative/myelodysplastic disorders.
- Published
- 2015
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