Gastrointestinal stromal tumours: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up

Gastrointestinal stromal tumours (GISTs) are malignant mesenchymal tumours with a variable clinical behaviour, marked by differentiation towards the interstitial cells of Cajal. GISTs belong to the family of soft tissue sarcomas (STSs) but are treated separately due to their peculiar histogenesis, clinical behaviour and specific therapy. This European Society for Medical Oncology (ESMO)–European Reference Network for Rare Adult Solid Cancers (EURACAN)–European Reference Network for Genetic Tumour Risk Syndromes (GENTURIS) Clinical Practice Guideline (CPG) will cover GISTs while other STSs are covered in the ESMO–EURACAN–European Reference Network for Paediatric Oncology (ERN PaedCan)–GENTURIS STS CPG

Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up

Soft tissue sarcomas (STSs) comprise ∼80 entities defined by the World Health Organization (WHO) classification based on a combination of distinctive morphological, immunohistochemical and molecular features.1 These ESMO–EURACAN–GENTURIS (European Society for Medical Oncology; European Reference Network for Rare Adult Solid Cancers; European Reference Network for Genetic Tumour Risk Syndromes) Clinical Practice Guidelines (CPGs) will cover STSs, with the exception of gastrointestinal stromal tumours (GISTs) that are covered in the ESMO–EURACAN–GENTURIS GIST CPGs.2 EURACAN and GENTURIS are the European Reference Networks connecting European institutions, appointed by their governments, to cover rare adult solid cancers and genetic cancer risk syndromes, respectively. Extraskeletal Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusion and sarcomas with CIC rearrangements and BCOR genetic alterations are covered by the ESMO–EURACAN–GENTURIS–ERN PaedCan (European Reference Network for Paediatric Oncology) bone sarcomas CPG.3 Kaposi's sarcoma, embryonal and alveolar rhabdomyosarcoma are not discussed in this manuscript, while pleomorphic rhabdomyosarcoma is viewed as a high-grade, adult-type STS. Finally, extraskeletal osteosarcoma is also a considered a high-grade STS, whose clinical resemblance with osteosarcoma of bone is doubtful. The methodology followed during the consensus meeting is specified at the end of the manuscript in a dedicated paragraph

Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up

This Clinical Practice Guideline provides key recommendations on the management of bone sarcomas. // Recommendations have been agreed following a consensus meeting of representatives from ESMO, EURACAN, GENTURIS and ERNPaedCan. // Authorship includes a multidisciplinary group of experts from different institutions and countries worldwide

DNA markers linked to the R (2) rust resistance gene in sunflower (Helianthus annuus L.) facilitate anticipatory breeding for this disease variant

Pre-emptive breeding for host disease resistance is an effective strategy for combating and managing devastating incursions of plant pathogens. Comprehensive, long-term studies have revealed that virulence to the R sunflower (Helianthus annuus L.) rust resistance gene in the line MC29 does not exist in the Australian rust (Puccinia helianthi) population. We report in this study the identification of molecular markers linked to this gene. The three simple sequence repeat (SSR) markers ORS795, ORS882, and ORS938 were linked in coupling to the gene, while the SSR marker ORS333 was linked in repulsion. Reliable selection for homozygous-resistant individuals was efficient when the three markers, ORS795, ORS882, and ORS333, were used in combination. Phenotyping for this resistance gene is not possible in Australia without introducing a quarantinable race of the pathogen. Therefore, the availability of reliable and heritable DNA-based markers will enable the efficient deployment of this gene, permitting a more effective strategy for generating sustainable commercial cultivars containing this rust resistance gene

Mapping the human genetic architecture of COVID-19

The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease

Bone sarcomas: ESMO–EURACAN–GENTURIS–ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up ☆

none81noA. Kawai43, K. Kopeckova44, D. A. Krakorova45, A. Le Cesne46, F. Le Grange1, E. Legius47, A. Leithner48, A. Lopez Pousa49, J. Martin-Broto36, O. Merimsky50, C. Messiou51, A. B. Miah52, O. Mir53, M. Montemurro54, B. Morland55, C. Morosi56, E. Palmerini57, M. A. Pantaleo58, R. Piana59, S. Piperno-Neumann60, P. Reichardt61, P. Rutkowski62, A. A. Safwat63, C. Sangalli64, M. Sbaraglia19, S. Scheipl48, P. Schoffski65, S. Sleijfer66, D. Strauss67, K. Sundby Hall13, A. Trama68, M. Unk69, M. A. J. van de Sande70, W. T. A. van der Graaf66,71, W. J. van Houdt72, T. Frebourg73x, R. Ladenstein41z, P. G. Casali2,74z &noneStrauss S.J.; Frezza A.M.; Abecassis N.; Bajpai J.; Bauer S.; Biagini R.; Bielack S.; Blay J.Y.; Bolle S.; Bonvalot S.; Boukovinas I.; Bovee J.V.M.G.; Boye K.; Brennan B.; Brodowicz T.; Buonadonna A.; de Alava E.; Dei Tos A.P.; Garcia del Muro X.; Dufresne A.; Eriksson M.; Fagioli F.; Fedenko A.; Ferraresi V.; Ferrari A.; Gaspar N.; Gasperoni S.; Gelderblom H.; Gouin F.; Grignani G.; Gronchi A.; Haas R.; Hassan A.B.; Hecker-Nolting S.; Hindi N.; Hohenberger P.; Joensuu H.; Jones R.L.; Jungels C.; Jutte P.; Kager L.; Kasper B.; Kawai A.; Kopeckova K.; Krakorova D.A.; Le Cesne A.; Le Grange F.; Legius E.; Leithner A.; Lopez Pousa A.; Martin-Broto J.; Merimsky O.; Messiou C.; Miah A.B.; Mir O.; Montemurro M.; Morland B.; Morosi C.; Palmerini E.; Pantaleo M.A.; Piana R.; Piperno-Neumann S.; Reichardt P.; Rutkowski P.; Safwat A.A.; Sangalli C.; Sbaraglia M.; Scheipl S.; Schoffski P.; Sleijfer S.; Strauss D.; Sundby Hall K.; Trama A.; Unk M.; van de Sande M.A.J.; van der Graaf W.T.A.; van Houdt W.J.; Frebourg T.; Ladenstein R.; Casali P.G.; Stacchiotti S.Strauss S.J.; Frezza A.M.; Abecassis N.; Bajpai J.; Bauer S.; Biagini R.; Bielack S.; Blay J.Y.; Bolle S.; Bonvalot S.; Boukovinas I.; Bovee J.V.M.G.; Boye K.; Brennan B.; Brodowicz T.; Buonadonna A.; de Alava E.; Dei Tos A.P.; Garcia del Muro X.; Dufresne A.; Eriksson M.; Fagioli F.; Fedenko A.; Ferraresi V.; Ferrari A.; Gaspar N.; Gasperoni S.; Gelderblom H.; Gouin F.; Grignani G.; Gronchi A.; Haas R.; Hassan A.B.; Hecker-Nolting S.; Hindi N.; Hohenberger P.; Joensuu H.; Jones R.L.; Jungels C.; Jutte P.; Kager L.; Kasper B.; Kawai A.; Kopeckova K.; Krakorova D.A.; Le Cesne A.; Le Grange F.; Legius E.; Leithner A.; Lopez Pousa A.; Martin-Broto J.; Merimsky O.; Messiou C.; Miah A.B.; Mir O.; Montemurro M.; Morland B.; Morosi C.; Palmerini E.; Pantaleo M.A.; Piana R.; Piperno-Neumann S.; Reichardt P.; Rutkowski P.; Safwat A.A.; Sangalli C.; Sbaraglia M.; Scheipl S.; Schoffski P.; Sleijfer S.; Strauss D.; Sundby Hall K.; Trama A.; Unk M.; van de Sande M.A.J.; van der Graaf W.T.A.; van Houdt W.J.; Frebourg T.; Ladenstein R.; Casali P.G.; Stacchiotti S