Citations 3
International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data
Arber, Daniel A. , Hasserjian, Robert P. , Borowitz, Michael J., Kvasnicka, Hans Michael , Wang, Sa A. , Bagg, Adam , Barbui, Tiziano , Branford, Susan , Bueso‐Ramos, Carlos E. , Cortes, Jörge E. , Cin, Paola Dal , Dombret, Hervé , Duncavage, Eric J., Ebert, Benjamin L. , Estey, Elihu H. , Foucar, Kathryn , Gangat, Naseema , Gökbuget, Nicola , Hellström‐Lindberg, Eva , Beau, Michelle M. Le , Löwenberg, Bob , Malcovati, Luca , Odenike, Olatoyosi , Papaemmanuil, Elli , Porkka, Kimmo , Radich, Jerald P. , Reiter, Andreas , Rudelius, Martina , Schiffer, Charles A. , Sierra, Jorge , Stone, Richard M. , Tallman, Martin S. , Thiele, Jürgen, Tzankov, Alexandar , Wei, Andrew H. , Weinberg, Olga K. , Wierzbowska, Agnieszka , Cazzola, Mario , Tefferi, Ayalew , Hasserjian, Robert P , Kvasnicka, Hans-Michael , Barbui, Tiziano , Branford, Susan , Cortes, Jorge , DiNardo, Courtney , Ebert, Benjamin L , Gangat, Naseema , Gianelli, Umberto , Hobbs, Gabriela S , Larson, Richard A , Löwenberg, Bob , Macintyre, Elizabeth , Malcovati, Luca , Mullighan, Charles G , Niemeyer, Charlotte Marie , Ogawa, Seishi , Passamonti, Francesco , Porkka, Kimmo , Savona, Michael R , Schmitt-Graeff, Annette , Shimamura, Akiko , Vannucchi, Alessandro M , Vyas, Paresh , Wei, Andrew H , Wierzbowska, Agnieszka , Cazzola, Mario , Döhner, Hartmut , Tzankov, Alexandar , Arber, Daniel A , Orazi, Attilio , Calvo, Katherine R. , DiNardo, Courtney D. , Facchetti, Fabio , Gianelli, Umberto , Godley, Lucy A. , Gotlib, Jason , Hobbs, Gabriela , Hoffman, Ronald , Jabbour, Elias , Kiladjian, Jean‐Jacques , Larson, Richard A. , Loh, Mignon L. , Macintyre, Elizabeth , Mullighan, Charles G. , Órfão, Alberto , Passamonti, Francesco , Pui, Ching-Hon , Rozman, Marı́a , Savona, Michael R. , Stock, Wendy , Tien, Hwei‐Fang , Vannucchi, Alessandro M.
Blood | June 29, 2022 | Volume: 140 | Issue: 11 | Pages: 1200-1228
Abstract The classification of myeloid neoplasms and acute leukemias was last updated in 2016 within a collaboration between the World Health Organization (WHO), the Society for Hematopathology, and the European Association for Haematopathology. This collaboration was primarily based on input from a clinical advisory committees (CACs) composed of pathologists, hematologists, oncologists, geneticists, and bioinformaticians from around the world. The recent advances in our understanding of the biology of hematologic malignancies, the experience with the use of the 2016 WHO classification in clinical practice, and the results of clinical trials have indicated the need for further revising and updating the classification. As a continuation of this CAC-based process, the authors, a group with expertise in the clinical, pathologic, and genetic aspects of these disorders, developed the International Consensus Classification (ICC) of myeloid neoplasms and acute leukemias. Using a multiparameter approach, the main objective of the consensus process was the definition of real disease entities, including the introduction of new entities and refined criteria for existing diagnostic categories, based on accumulated data. The ICC is aimed at facilitating diagnosis and prognostication of these neoplasms, improving treatment of affected patients, and allowing the design of innovative clinical trials.
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
Lichtenstein, Daniel A. , Crispin, Andrew, Sendamarai, Anoop K. , Campagna, Dean R. , Schmitz‐Abe, Klaus , Sousa, Cristovão M. , Kafina, Martin D. , Schmidt, Paul J. , May, Alison, Patnaik, Mrinal M. , Kimmelman, Alec C. , Bottomley, Sylvia S. , Markianos, Kyriacos , Fleming, Mark D. , Niemeyer, Charlotte Marie , Porter, John B. , Heeney, Matthew M. , Paw, Barry H. , Lichtenstein, Dan
Blood | August 4, 2016 | Volume: 128 | Issue: 15 | Pages: 1913-1917
Key Points A recurring mutation in NDUFB11 causes congenital sideroblastic anemia. The NDUFB11 p.93del mutation impairs erythroid proliferation, but not differentiation.
An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults
Savona, Michael R. , Malcovati, Luca , Komrokji, Rami S. , Tiu, Ramón V., Mughal, Tariq I. , Orazi, Attilio , Kiladjian, Jean‐Jacques , Padron, Eric , Solary, Éric , Tibes, Raoul , Itzykson, Raphaël , Cazzola, Mario , Maciejewski, Jaroslaw P. , Fenaux, Pierre , Garcia‐Manero, Guillermo , Gerds, Aaron T. , Sanz, Guillermo , Cervantes, Francisco , Germing, Ulrich, Cross, Nicholas C.P. , List, Alan F. , Mesa, Ruben, Mesa, Ruben A. , Niemeyer, Charlotte Marie , Germing, Ulrich , Gerds, Aaron T , Savona, Michael R , Komrokji, Rami S , Solary, Eric , Kiladjian, Jean-Jacques , Itzykson, Raphael , Malcovati, Luca , Cazzola, Mario , Sanz, Guillermo F , Orazi, Attilio , Cross, Nicholas C P
Blood | January 26, 2015 | Volume: 125 | Issue: 12 | Pages: 1857-1865
Abstract Myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) are hematologically diverse stem cell malignancies sharing phenotypic features of both myelodysplastic syndromes and myeloproliferative neoplasms. There are currently no standard treatment recommendations for most adult patients with MDS/MPN. To optimize efforts to improve the management and disease outcomes, it is essential to identify meaningful clinical and biologic end points and standardized response criteria for clinical trials. The dual dysplastic and proliferative features in these stem cell malignancies define their uniqueness and challenges. We propose response assessment guidelines to harmonize future clinical trials with the principal objective of establishing suitable treatment algorithms. An international panel comprising laboratory and clinical experts in MDS/MPN was established involving 3 independent academic MDS/MPN workshops (March 2013, December 2013, and June 2014). These recommendations are the result of this collaborative project sponsored by the MDS Foundation.