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2 results on '"Symeonidis, Argiri"'

1. Cytomorphology review of 100 newly diagnosed lower-risk MDS patients in the European LeukemiaNet MDS (EUMDS) registry reveals a high inter-observer concordance

Author

de Swart, Louise, Smith, Alex, Mackenzie, Mariu, Symeonidis, Argiri, Neukirchen, Judith, Mikulenková, Dana, Vallespí, Teresa, Zini Tanzi, Gina, Paszkowska-Kowalewska, Malgorzata, Kruger, Anton, Saft, Leonie, Fenaux, Pierre, Bowen, David, Hellström-Lindberg, Eva, Čermák, Jaroslav, Stauder, Reinhard, Tatic, Aurelia, Holm, Mette Skov, Malcovati, Luca, Mądry, Krzysztof, Droste, Jackie, Blijlevens, Nicole, de Witte, Theo, Germing, Ulrich, Zini, Gina (ORCID:0000-0002-8208-066X), de Swart, Louise, Smith, Alex, Mackenzie, Mariu, Symeonidis, Argiri, Neukirchen, Judith, Mikulenková, Dana, Vallespí, Teresa, Zini Tanzi, Gina, Paszkowska-Kowalewska, Malgorzata, Kruger, Anton, Saft, Leonie, Fenaux, Pierre, Bowen, David, Hellström-Lindberg, Eva, Čermák, Jaroslav, Stauder, Reinhard, Tatic, Aurelia, Holm, Mette Skov, Malcovati, Luca, Mądry, Krzysztof, Droste, Jackie, Blijlevens, Nicole, de Witte, Theo, Germing, Ulrich, and Zini, Gina (ORCID:0000-0002-8208-066X)

Abstract

The European LeukemiaNet MDS (EUMDS) registry is collecting data of myelodysplastic syndrome (MDS) patients belonging to the IPSS low or intermediate-1 category, newly diagnosed by local cytologists. The diagnosis of MDS can be challenging, and some data report inter-observer variability with regard to the assessment of the MDS subtype. In order to ensure that correct diagnoses were made by the participating centres, blood and bone marrow slides of 10% of the first 1000 patients were reviewed by an 11-person panel of cytomorphologists. All slides were rated by at least 3 panel members (median 8 panel members; range 3–9). Marrow slides from 98 out of 105 patients were of good quality and therefore could be rated properly according to the WHO 2001 classification, including assessment of dysplastic lineages. The agreement between the reviewers whether the diagnosis was MDS or non-MDS was strong with an intra-class correlation coefficient (ICC) of 0.85. Six cases were detected not to fit the entry criteria of the registry, because they were diagnosed uniformly as CMML or AML by the panel members. The agreement by WHO 2001 classification was strong as well (ICC = 0.83). The concordance of the assessment of dysplastic lineages was substantial for megakaryopoiesis and myelopoiesis and moderate for erythropoiesis. Our data show that in general, the inter-observer agreement was high and a very low percentage of misdiagnosed cases had been entered into the EUMDS registry. Further studies including histomorphology are warranted.

Published
2017

2. Recurrent ETNK1 mutations in atypical chronic myeloid leukemia

Author

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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