Distinct mutational pattern of Myelodysplastic syndromes with and without 5q- treated with lenalidomide. Adema V, Palomo L, Toma A, Kosmider O, Fuster-Tormo F, Benito R, Salgado R, Such E, Larrayoz MJ, Xicoy B, Hernandez-Sanchez JM, Maietta P, Neef A, Fontenay M, Ibañez M, Diez Campelo M, Alvarez A, Maciejewski JP, Fenaux P, Sole F. Br J Haematol. 2020 May;189(4):e133-e1.

Co-occurrence of cohesin complex and Ras signaling mutations during progression from myelodysplastic syndromes to secondary acute myeloid leukemia. Marta Martín-Izquierdo 1, María Abáigar 1, Jesús M Hernández-Sánchez 1, David Tamborero 2, Félix López-Cadenas 3, Fernando Ramos 4, Eva Lumbreras 1, Andrés Madinaveitia-Ochoa 5, Marta Megido 6, Jorge Labrador 7, Javier Sánchez-Real 4, Carmen Olivier 8, Julio Dávila 9, Carlos Aguilar 10, Juan N Rodríguez 11, Guillermo Martín-Nuñez 12, Sandra Santos-Mínguez 1, Cristina Miguel-García 1, Rocío Benito 1, María Díez-Campelo 13, Jesús M Hernández-Rivas 14..Haematologica. 2020 Jul 16;haematol.2020.248807. doi: 10.3324/haematol.2020.248807. Online ahead of print.

The implication of ‘unknown significance’ variants in next?generation sequencing in diagnosis and donor selection for allogenic haematopoietic stem cell transplantation. Report of a case of myelodysplastic syndrome with a polymorphism in the tyrosine kinase 2 (TYK2) gene. Bernardo López?Andrade Leyre Bento Maria Diez Campelo Félix López Cadenas Teresa González Martín Laura Lo Riso Andres Novo Jorge Martinez?Serra Carmen Ballester Antonia Sampol Maria Antonia Duran.British Journal of Haematology, 2020, 189, e119–e187

Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes. Bernard E, Nannya Y, Hasserjian RP, Devlin SM, Tuechler H, Medina-Martinez JS, Yoshizato T, Shiozawa Y, Saiki R, Malcovati L, Levine MF, Arango JE, Zhou Y, Solé F, Cargo CA, Haase D, Creignou M, Germing U, Zhang Y, Gundem G, Sarian A, van de Loosdrecht AA, Jädersten M, Tobiasson M, Kosmider O, Follo MY, Thol F, Pinheiro RF, Santini V, Kotsianidis I, Boultwood J, Santos FPS, Schanz J, Kasahara S, Ishikawa T, Tsurumi H, Takaori-Kondo A, Kiguchi T, Polprasert C, Bennett JM, Klimek VM, Savona MR, Belickova M, Ganster C, Palomo L, Sanz G, Ades L, Della Porta MG, Smith AG, Werner Y, Patel M, Viale A, Vanness K, Neuberg DS, Stevenson KE, Menghrajani K, Bolton KL, Fenaux P, Pellagatti A, Platzbecker U, Heuser M, Valent P, Chiba S, Miyazaki Y, Finelli C, Voso MT, Shih LY, Fontenay M, Jansen JH, Cervera J, Atsuta Y, Gattermann N, Ebert BL, Bejar R, Greenberg PL, Cazzola M, Hellström-Lindberg E, Ogawa S, Papaemmanuil E. Nat Med. 2020 Aug 3. doi: 10.1038/s41591-020-1008-z. Epub ahead of print. PMID: 32747829

Therapy-related myelodysplastic syndromes deserve specific diagnostic sub-classification and risk-stratification-an approach to classification of patients with t-MDS. Kuendgen A, Nomdedeu M, Tuechler H, Garcia-Manero G, Komrokji RS, Sekeres MA, Della Porta MG, Cazzola M, DeZern AE, Roboz GJ, Steensma DP, Van de Loosdrecht AA, Schlenk RF, Grau J, Calvo X, Blum S, Pereira A, Valent P, Costa D, Giagounidis A, Xicoy B, Döhner H, Platzbecker U, Pedro C, Lübbert M, Oiartzabal I, Díez-Campelo M, Cedena MT, Machherndl-Spandl S, López-Pavía M, Baldus CD, Martinez-de-Sola M, Stauder R, Merchan B, List A, Ganster C, Schroeder T, Voso MT, Pfeilstöcker M, Sill H, Hildebrandt B, Esteve J, Nomdedeu B, Cobo F, Haas R, Sole F, Germing U, Greenberg PL, Haase D, Sanz G.Leukemia. 2020 Jun 29. doi: 10.1038/s41375-020-0917-7. Epub ahead of print. PMID: 32595214.

Impact of somatic mutations in myelodysplastic patients with isolated partial or total loss of chromosome 7. Elena Crisà 1 2 3, Austin G Kulasekararaj 4, Vera Adema 5 6, Esperanza Such 7 8, Julie Schanz 9, Detlef Haase 9, Katayoon Shirneshan 9, Steven Best 10, Syed A Mian 4 11, Aytug Kizilors 10, José Cervera 12, Nicholas Lea 10, Dario Ferrero 13 14, Ulrich Germing 15, Barbara Hildebrandt 16, Ana Belén Valencia Martínez 17, Valeria Santini 13 17, Guillermo F Sanz 7 8 18, Francesc Solé 5, Ghulam J Mufti 4. Leukemia. 2020 Sep;34(9):2441-2450.

Cancer Testis Antigens in Myelodysplastic Syndromes Revisited: a Targeted RNA-seq Approach. Ana María Hurtado López, Tzu Hua Chen-Liang, María Zurdo, Salvador Carrillo-Tornel, Joaquín Panadero, Eduardo José Salido, Victor Beltrán, Begoña Muiña, MariLuz Amigo, Noelia Navarro-Villamor, Rosa Cifuentes, Inés Calabria, Ana Isabel Antón, Raúl Teruel, Manuel Muro, Vicente Vicente, Andrés Jerez. OncoImmunology, in press, Accepted_10/09/2020

Host immune genetic variations influence the risk of developing acute myeloid leukaemia: Results from the NuCLEAR consortium.

José Manuel Sánchez-Maldonado, Daniele Campa, Jan Springer, Jon Badiola, Yasmeen Niazi, Ana Moñiz-Díez, Francisca Hernández-Mohedo, Pedro González-Sierra, Rob ter Horst, Angelica Macauda, Stefanie Brezina, Cristina Cunha, Michaela Lackner, Miguel López-Nevot, Luana Fianchi, Livio pagano, Elisa López-Fernández, Leonardo Potenza, Mario Luppi, Lucía Moratalla, Juan José Rodríguez-Sevilla, Joao Fonseca, Mar Tormo Diaz, Carlos Solano, Esther Clavero, Antonio Romero, Yang Li, Cornelia Lass-Flörl, Hermann Einsele, Lourdes Vazquez, Jurgen Loeffler, Kari Hemminki, Agostinho Carvalho, Mihai Netea, Andrea Gsur, Charles Dumontet, Federico Canzian, Asta Försti, Manuel Jurado, Juan Sainz.

Longer genetically determined telomeres are associated with increased risk of developing myeloproliferative neoplasms.

Matteo Giaccherini, Angelica Macauda, Nicola Sgherza, Juan Sainz, Federica Gemignani, José Maldonado, Manuel Jurado, Francesca Tavano, Grzegorz Mazur, Andrés Jerez, Joanna Góra-Tybor, Aleksandra Go?os, Francisca Hernández-Mohedo, Joaquin Martinez-Lopez, Judit Várkonyi, Raffaele Spadano, Aleksandra Butrym, Daniele Campa, Federico Canzian.

Do myeloproliferative neoplasms and multiple myeloma share the same genetic susceptibility loci?

Angelica Macauda, Matteo Giaccherini, Juan Sainz, Federica Gemignani, Nicola Sgherza, José Manuel Sánchez-Maldonado, Joanna Gora-Tybor, Joaquin Martinez-Lopez, Gonzalo Carreño-Tarragona, Andrés Jerez, Raffaele Spadano, Aleksandra Go?os, Manuel Jurado, Francisca Hernández-Mohedo, Grzegorz Mazur, Francesca Tavano, Aleksandra Butrym, Judit Várkonyi, Federico Canzian, Daniele Campa.