MEETING REPORT. Attendance of MPN&MPNr-EuroNet meetings since its ceration in November 2009

Transcription

1 MPN&MPNr-EuroNet Twelfth Meeting May th, 2017, Göteborg, Sweden MEETING REPORT GENERAL REPORT Forty-nine participants from 16 countries (BA, BE, CH, CZ, DE, DK, ES, FR, HR, MK, NO, PL, PT, RS, SE, UK) attended the 12 th meeting of MPN&MPNr-EuroNet in Göteborg, Sweden. The meeting was organized by Drs. Julia Asp, Fredrik Endlund and Lars Palmqvist, from Göteborg, with the support of the the MPN&MPNr-EuroNet Fund, ThermoFisher, Illumina, Novartis and QIAGEN-Marseille. The scientific programme, presented in pages 2-4, included presentations on the detection and quantification of different MPN mutations, with special emphasis on next-generation sequencing (NGS), including the on-going NGS international quality control (IQC), WHO JAK2V617F reference panel, congenital erythrocytosis and hereditary thrombocytosis, HIF inhibitors, a new H2020 project (UNITE) of which MPN&MPNr-EuroNet is a partner, triple-negative MPNs, inflammation cytokine in subtypes of MPNs, and single cell studies of malignant hematopoietic stem cells. All talks were followed by questions and discussions. Younger colleagues with poster presentations were given the opportunity to explain their work to the all via 5 min-oral presentations. The working group (WG) business sessions (see reports pages 4-5), coffee-breaks, lunch and the gala dinner, provided more opportunities for discussions and networking. Overall the 12 th meeting of MPN&MPNr-EuroNet was characterized by presentations of high scientific level. Based on the evaluation forms, the participants were satisfied with all sessions and with the conference arrangements in general. Coming Events The 13 th meeting of MPN&MPNr-EuroNet will take place in Krakow, in Poland, on April 25-27, The 14 th meeting of MPN&MPNr-EuroNet may take place in Belgrade, in Serbia, in Remark: MPN&MPNr-EuroNet meeting attendance is stable (see below). Attendance of MPN&MPNr-EuroNet meetings since its ceration in November 2009 This confirms the need for biologists for small international meetings, in addition to the large annual meetings organized by international haematology societies. MPN&MPNr-EuroNet meetings are designed to facilitate discussion of the latest technological, scientific, and medical advances, as well as the organisation of IQC and other independent collaborative studies, notably of rare diseases. 1

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4 WG Business Meeting Reports WG1 Business Session: MUTATION DETECTION BY NGS AND VALIDATION Beatriz Bellosillo-Paricio (ES) and Elisabeth Oppliger-Leitbundgut (CH) We have been working in WG1 during the last year has been to set a quality control for NGS platforms. Previously tested DNA from Bern and Barcelona from 7 samples was distributed among 7 labs. Elisabeth Oppliger presented the first analysis on detection rates and VAFs reported by the independent labs in WG1 session. Discussion included: - The number of labs participating we expected more. We missed some labs that initially seemed interested (Nantes, Nimes, Danish groups.) We may them to see if they are still interested - We discuss with Omnomics the possibility of reanalyzing data and setting quality thresholds - We discussed that some labs will be involved in the early Access myeloid panel of Thermo. It would be interesting to include this analysis too. We will analyze the 7 samples with this platform as part of this first quality round. - We will meet at ASH or potentially via skype to share these results and plan to send communication to next EHA meeting. - We also commented on the possibility of doing a second round of samples. FLT3 ITD and CALR mutations are proposed to be included. Sylvie Hermouet proposed a second project for analyzing cytokine levels in MPN patients in serum/plasma samples. WG2: MUTATION QUANTIFICATION Julia Asp (SE) At the WG2 business meeting, the following issues were discussed: 1) Quality assurance (QA) testing for JAK2 V617F in collaboration with the Swedish EQA company Equalis was discussed. A QA should be based on qpcr or digital PCR for quantitative values and preferably calibrated against the new WHO reference material prepared by NIBSC. A suggestion for such a QA will be discussed further by Julia Asp (SE), Sara Ekvall (Equalis) and Jennifer Boyle (NIBSC). 2) It was discussed if MPN&MPNr-EuroNet could extend collaboration to standardization efforts planned within the European Leukemia Net (ELN). Sylvie Hermouet (FR) will bring this issue to the next ELN meeting. WG3: CONGENITAL ERYTHROCYTOSIS AND HEREDITARY THROMBOCYTOSIS Mary-Frances Mc Mullin (UK) The WG3 group had the above session in the meeting on 11 th May. This was highly rated and very interesting for all. At the group meeting the following issues were discussed. - Dr Girodon discussed the UNITE grant proposal for a network to investigate and collate cases of erythrocytosis. A decision about funding is expected in September Dr Hermouet discussed the progression of her study of MPL and the preparation of a paper. It was decided that this should progress and Dr Ana Teresa Simoes could perhaps be drafted to help. 4

5 - Dr MF McMullin raised the issue of pulmonary hypertension in these patients and collating information with perhaps guidance on management. Prof P Maxwell who was in attendance and had seen some of these patients thought this would be useful. MF McMullin is to prepare a sheet and circulate to gather information. - The book written by WG3 was discussed. There are still 200 copies in Coimbra and these are available for distribution. WG3 Publications - HFE mutations in idiopathic erythrocytosis. Biagetti G, Catherwood M, Robson N, Bertozzi I, Cosi E, McMullin MF, Randi ML. Br J Haematol Feb 7. doi: /bjh PMID: Primary and familial polycythemia. Bento C, McMullin MF, Percy M, Cario H.In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle; Nov 10.PMID: Gene sequencing improves the diagnostic workup of patients with idiopathic erythrocytosis and identifies new mutations.camps C, Petousi N, Bento C, Cario H, Copley RR, McMullin MF, van Wijk R, Ratcliffe PJ, Robbins PA, Taylor JC; WGS500 Consortium. Haematologica Nov;101(11): Epub 2016 Sep 20.PMID: LNK mutations and myeloproliferative disorders. McMullin MF, Cario H. Am J Hematol Feb;91(2): PMID: Sylvie Hermouet Chair of MPN&MPNr-EuroNet June 2 nd,